#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
AARS2	57505	genome.wustl.edu	37	6	44279178	44279178	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:44279178T>G	ENST00000244571.4	-	3	532	c.530A>C	c.(529-531)aAg>aCg	p.K177T	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCCCTGCCTTGGGGTCACC	0.567																																																	0													85.0	80.0	81.0					6																	44279178		2203	4300	6503	SO:0001583	missense	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.530A>C	6.37:g.44279178T>G	ENSP00000244571:p.Lys177Thr			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.K177T	ENST00000244571.4	37	c.530	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	T	11.00	1.508952	0.27036	.	.	ENSG00000124608	ENST00000244571	D	0.82893	-1.66	5.22	2.74	0.32292	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.395361	0.27654	N	0.018408	T	0.60287	0.2257	L	0.39898	1.24	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.55315	-0.8160	10	0.36615	T	0.2	-15.6365	11.8507	0.52410	0.0:0.0:0.5491:0.4509	.	177	Q5JTZ9	SYAM_HUMAN	T	177	ENSP00000244571:K177T	ENSP00000244571:K177T	K	-	2	0	AARS2	44387156	0.993000	0.37304	0.034000	0.17996	0.898000	0.52572	3.270000	0.51600	0.969000	0.38237	0.460000	0.39030	AAG	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.567	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2	-	0.00	74	0	T	NM_020745		44279178	-1	tier1	-	no_errors	ENST00000244571	ensembl	human	known	74_37	missense	18.31	58	13	SNP	0.033	G
AASDH	132949	genome.wustl.edu	37	4	57248651	57248652	+	Frame_Shift_Ins	INS	-	-	T	rs376463919		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:57248651_57248652insT	ENST00000205214.6	-	3	522_523	c.342_343insA	c.(340-345)aaacaafs	p.Q115fs	AASDH_ENST00000602986.1_Intron|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000502617.1_Frame_Shift_Ins_p.Q115fs|AASDH_ENST00000451613.1_Frame_Shift_Ins_p.Q115fs|AASDH_ENST00000513376.1_Frame_Shift_Ins_p.Q15fs|AASDH_ENST00000434343.2_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	115					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACATTAATTTGTTTTTTTTCAA	0.337																																																	0										10,4256		0,10,2123						5.9	0.9			42	17,8237		0,17,4110	no	frameshift	AASDH	NM_181806.2		0,27,6233	A1A1,A1R,RR		0.206,0.2344,0.2157				27,12493				SO:0001589	frameshift_variant	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.343dupA	4.37:g.57248659_57248659dupT	ENSP00000205214:p.Gln115fs		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Frame_Shift_Ins	INS	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.Q114fs	ENST00000205214.6	37	c.343_342	CCDS3504.1	4																																																																																			AASDH	-	pfam_AMP-dep_Synth/Lig	ENSG00000157426		0.337	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1		0.00	36	0	-	NM_181806		57248652	-1	tier1		no_errors	ENST00000205214	ensembl	human	known	74_37	frame_shift_ins	36.21	37	21	INS	0.961:0.960	T
ABCA10	10349	genome.wustl.edu	37	17	67170425	67170425	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:67170425delA	ENST00000269081.4	-	26	4068	c.3159delT	c.(3157-3159)tttfs	p.F1053fs	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1053					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TACTTACAATAAAAAAGCCAA	0.289																																																	0													58.0	59.0	59.0					17																	67170425		2202	4299	6501	SO:0001589	frameshift_variant	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3159delT	17.37:g.67170425delA	ENSP00000269081:p.Phe1053fs		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F1053fs	ENST00000269081.4	37	c.3159	CCDS11684.1	17																																																																																			ABCA10	-	NULL	ENSG00000154263		0.289	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4		0.00	64	0	A	NM_080282		67170425	-1	tier1		no_errors	ENST00000269081	ensembl	human	known	74_37	frame_shift_del	51.47	33	35	DEL	0.047	-
ZNF721	170960	genome.wustl.edu	37	4	419621	419621	+	IGR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:419621C>T	ENST00000506646.1	-	0	935				ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CATTTCCCAGCGCCTGCTCTT	0.413																																																	0																																										SO:0001628	intergenic_variant	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20			4.37:g.419621C>T			Q69YG7	RNA	SNP	-	NULL	ENST00000506646.1	37	NULL		4																																																																																			ABCA11P	-	-	ENSG00000251595		0.413	ZNF721-003	PUTATIVE	basic	protein_coding	ABCA11P	HGNC	protein_coding	OTTHUMT00000357869.2	-	0.00	76	0	C	NM_133474		419621	-1	tier1	-	no_errors	ENST00000451020	ensembl	human	known	74_37	rna	13.51	64	10	SNP	0.029	T
ABCA13	154664	genome.wustl.edu	37	7	48392078	48392078	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:48392078G>A	ENST00000435803.1	+	31	10706	c.10682G>A	c.(10681-10683)aGc>aAc	p.S3561N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3561					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCCATACCAGCGACCTGTGA	0.537																																																	0													15.0	18.0	17.0					7																	48392078		1895	4127	6022	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10682G>A	7.37:g.48392078G>A	ENSP00000411096:p.Ser3561Asn		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S3561N	ENST00000435803.1	37	c.10682	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951395	0.53186	.	.	ENSG00000179869	ENST00000435803	D	0.87029	-2.2	5.06	4.18	0.49190	.	0.221230	0.31648	N	0.007296	D	0.89118	0.6624	L	0.49640	1.575	0.80722	D	1	P;D	0.63046	0.612;0.992	B;P	0.60415	0.242;0.874	D	0.88677	0.3199	10	0.59425	D	0.04	.	10.5517	0.45092	0.0893:0.0:0.9107:0.0	.	1263;3561	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	N	3561	ENSP00000411096:S3561N	ENSP00000411096:S3561N	S	+	2	0	ABCA13	48362624	0.997000	0.39634	0.964000	0.40570	0.432000	0.31715	2.628000	0.46477	1.105000	0.41606	0.462000	0.41574	AGC	ABCA13	-	NULL	ENSG00000179869		0.537	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0.00	50	0	G	NM_152701		48392078	+1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.993	A
ABCA3	21	genome.wustl.edu	37	16	2374411	2374411	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2374411C>T	ENST00000301732.5	-	6	1141	c.441G>A	c.(439-441)ccG>ccA	p.P147P	ABCA3_ENST00000567910.1_Silent_p.P147P|ABCA3_ENST00000382381.3_Silent_p.P147P	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	147					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TCACCGCCAGCGGCAGGGGCT	0.617																																																	0													19.0	18.0	19.0					16																	2374411		2193	4292	6485	SO:0001819	synonymous_variant	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.441G>A	16.37:g.2374411C>T			B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P147	ENST00000301732.5	37	c.441	CCDS10466.1	16																																																																																			ABCA3	-	NULL	ENSG00000167972		0.617	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	-	0.00	29	0	C	NM_001089		2374411	-1	tier1	-	no_errors	ENST00000301732	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.612	T
ABCB10	23456	genome.wustl.edu	37	1	229683352	229683352	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:229683352A>G	ENST00000344517.4	-	3	857	c.815T>C	c.(814-816)aTt>aCt	p.I272T	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	272	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.I272N(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGGCGGTTAATCAATTCTCC	0.537																																																	1	Substitution - Missense(1)	endometrium(1)											58.0	64.0	62.0					1																	229683352		2203	4300	6503	SO:0001583	missense	0			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.815T>C	1.37:g.229683352A>G	ENSP00000355637:p.Ile272Thr		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.I272T	ENST00000344517.4	37	c.815	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532763	0.85812	.	.	ENSG00000135776	ENST00000344517	D	0.88124	-2.34	5.37	5.37	0.77165	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.096992	0.64402	D	0.000001	D	0.88280	0.6394	L	0.47078	1.49	0.80722	D	1	P	0.36974	0.576	P	0.47705	0.555	D	0.87955	0.2726	10	0.46703	T	0.11	-8.3315	15.6601	0.77178	1.0:0.0:0.0:0.0	.	272	Q9NRK6	ABCBA_HUMAN	T	272	ENSP00000355637:I272T	ENSP00000355637:I272T	I	-	2	0	ABCB10	227749975	1.000000	0.71417	0.635000	0.29338	0.992000	0.81027	8.930000	0.92872	2.161000	0.67846	0.459000	0.35465	ATT	ABCB10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000135776		0.537	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1		0.00	73	0	A	NM_012089		229683352	-1			no_errors	ENST00000344517	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.998	G
ABCB4	5244	genome.wustl.edu	37	7	87074282	87074282	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:87074282delA	ENST00000265723.4	-	10	1126	c.1015delT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000358400.3_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000545634.1_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000453593.1_Frame_Shift_Del_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATTAGGATTGAAAAAAAAACC	0.348																																																	1	Deletion - Frameshift(1)	lung(1)	GRCh37	CD034702	ABCB4	D							56.0	53.0	54.0					7																	87074282		2203	4300	6503	SO:0001589	frameshift_variant	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1015delT	7.37:g.87074282delA	ENSP00000265723:p.Ser339fs		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Del	DEL	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S339fs	ENST00000265723.4	37	c.1015	CCDS5606.1	7																																																																																			ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000005471		0.348	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1		0.00	48	0	A	NM_000443		87074282	-1	tier1		no_errors	ENST00000265723	ensembl	human	known	74_37	frame_shift_del	22.73	34	10	DEL	1.000	-
ABCC11	85320	genome.wustl.edu	37	16	48264360	48264360	+	Missense_Mutation	SNP	C	C	T	rs148400454	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:48264360C>T	ENST00000394747.1	-	2	573	c.224G>A	c.(223-225)cGt>cAt	p.R75H	ABCC11_ENST00000353782.5_Missense_Mutation_p.R75H|ABCC11_ENST00000537808.1_Missense_Mutation_p.R75H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R75H|ABCC11_ENST00000394748.1_Missense_Mutation_p.R75H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	75					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CGGCTTGGGACGGAAGGGAAT	0.587																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG	3,4397	6.2+/-15.9	0,3,2197	91.0	83.0	86.0		224,224,224	3.9	0.9	16	dbSNP_134	86	0,8600		0,0,4300	yes	missense,missense,missense	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	29,29,29	0,3,6497	TT,TC,CC		0.0,0.0682,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	75/1383,75/1383,75/1345	48264360	3,12997	2200	4300	6500	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.224G>A	16.37:g.48264360C>T	ENSP00000378230:p.Arg75His		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R75H	ENST00000394747.1	37	c.224	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787908	0.70337	6.82E-4	0.0	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.93133	-2.98;-2.88;-2.88;-2.88;-3.17	4.84	3.88	0.44766	.	0.061285	0.64402	D	0.000003	D	0.94245	0.8152	M	0.71581	2.175	0.37605	D	0.920704	B;D	0.76494	0.357;0.999	B;P	0.59056	0.072;0.851	D	0.93097	0.6505	10	0.27082	T	0.32	-12.2421	9.661	0.39954	0.0:0.9009:0.0:0.0991	.	75;75	Q96J66-2;Q96J66	.;ABCCB_HUMAN	H	75	ENSP00000311326:R75H;ENSP00000349017:R75H;ENSP00000378231:R75H;ENSP00000378230:R75H;ENSP00000438530:R75H	ENSP00000311326:R75H	R	-	2	0	ABCC11	46821861	0.073000	0.21202	0.942000	0.38095	0.605000	0.37080	0.012000	0.13287	2.231000	0.72958	0.591000	0.81541	CGT	ABCC11	-	NULL	ENSG00000121270		0.587	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0.00	76	0	C	NM_032583		48264360	-1	tier1	rs148400454	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	29.85	47	20	SNP	0.941	T
ABCC4	10257	genome.wustl.edu	37	13	95696013	95696013	+	Missense_Mutation	SNP	G	G	A	rs200017194		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:95696013G>A	ENST00000376887.4	-	29	3772	c.3658C>T	c.(3658-3660)Cgg>Tgg	p.R1220W	ABCC4_ENST00000412704.1_Missense_Mutation_p.R1173W	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1220	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AATTTCTCCCGGATTTTTTTT	0.373																																																	0								G	TRP/ARG	0,4406		0,0,2203	109.0	107.0	108.0		3658	4.9	1.0	13		108	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABCC4	NM_005845.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1220/1326	95696013	1,13005	2203	4300	6503	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3658C>T	13.37:g.95696013G>A	ENSP00000366084:p.Arg1220Trp		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM	p.R1220W	ENST00000376887.4	37	c.3658	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754501	0.89843	0.0	1.16E-4	ENSG00000125257	ENST00000412704;ENST00000376887	T;T	0.80304	-1.36;-1.36	5.8	4.94	0.65067	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92165	0.5739	10	0.87932	D	0	.	16.059	0.80826	0.0:0.0:0.8647:0.1352	.	1173;1220	O15439-2;O15439	.;MRP4_HUMAN	W	1173;1220	ENSP00000388657:R1173W;ENSP00000366084:R1220W	ENSP00000366084:R1220W	R	-	1	2	ABCC4	94494014	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	1.405000	0.46838	0.650000	0.86243	CGG	ABCC4	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000125257		0.373	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	-	0.00	63	0	G	NM_005845		95696013	-1	tier1	rs200017194	no_errors	ENST00000376887	ensembl	human	known	74_37	missense	37.70	38	23	SNP	1.000	A
ABCC5	10057	genome.wustl.edu	37	3	183665256	183665257	+	Frame_Shift_Ins	INS	-	-	A	rs374387850		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:183665256_183665257insA	ENST00000334444.6	-	23	3509_3510	c.3269_3270insT	c.(3268-3270)ttgfs	p.L1090fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.L1047fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1090	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CACACGTAAACAAAAAAAAAGG	0.53																																																	0																																										SO:0001589	frameshift_variant	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3270dupT	3.37:g.183665265_183665265dupA	ENSP00000333926:p.Leu1090fs		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L1090fs	ENST00000334444.6	37	c.3270_3269	CCDS43176.1	3																																																																																			ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000114770		0.530	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1		0.00	31	0	-	NM_005688		183665257	-1	tier1		no_errors	ENST00000334444	ensembl	human	known	74_37	frame_shift_ins	22.22	21	6	INS	1.000:1.000	A
ABCD1	215	genome.wustl.edu	37	X	153009046	153009046	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:153009046C>T	ENST00000218104.3	+	10	2494	c.2095C>T	c.(2095-2097)Ctg>Ttg	p.L699L	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	699	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCAGCGGCTGGAGCAGCA	0.662																																																	0													8.0	9.0	9.0					X																	153009046		2173	4263	6436	SO:0001819	synonymous_variant	0			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.2095C>T	X.37:g.153009046C>T			Q6GTZ2	Silent	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter	p.L699	ENST00000218104.3	37	c.2095	CCDS14728.1	X																																																																																			ABCD1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000101986		0.662	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	-	0.00	94	0	C	NM_000033		153009046	+1	tier1	-	no_errors	ENST00000218104	ensembl	human	known	74_37	silent	8.47	54	5	SNP	1.000	T
ABCD3	5825	genome.wustl.edu	37	1	94982784	94982784	+	3'UTR	SNP	T	T	A	rs566123356	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:94982784T>A	ENST00000370214.4	+	0	2103				ABCD3_ENST00000394233.2_3'UTR|ABCD3_ENST00000454898.2_3'UTR|ABCD3_ENST00000536817.1_3'UTR|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TAGTTTTTTTTAAAAAAAAAA	0.249													t|||	2	0.000399361	0.0008	0.0014	5008	,	,		16375	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001624	3_prime_UTR_variant	0			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.*99T>A	1.37:g.94982784T>A			D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	RNA	SNP	-	NULL	ENST00000370214.4	37	NULL	CCDS749.1	1																																																																																			ABCD3	-	-	ENSG00000117528		0.249	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	-	0.00	28	0	T	NM_002858		94982784	+1	tier1	-	no_errors	ENST00000464165	ensembl	human	known	74_37	rna	18.18	27	6	SNP	0.274	A
ABCE1	6059	genome.wustl.edu	37	4	146029243	146029243	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:146029243C>T	ENST00000296577.4	+	4	781	c.266C>T	c.(265-267)gCc>gTc	p.A89V	OTUD4_ENST00000455611.2_5'Flank|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	89	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CGATATTGTGCCAATGCCTTC	0.348																																																	0													97.0	90.0	93.0					4																	146029243		2203	4300	6503	SO:0001583	missense	0			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.266C>T	4.37:g.146029243C>T	ENSP00000296577:p.Ala89Val		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.A89V	ENST00000296577.4	37	c.266	CCDS34071.1	4	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615132	0.66672	.	.	ENSG00000164163	ENST00000296577;ENST00000502586	D	0.94138	-3.36	5.58	5.58	0.84498	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.87791	0.6266	N	0.14661	0.345	0.80722	D	1	B	0.14438	0.01	B	0.18561	0.022	T	0.81850	-0.0743	10	0.20519	T	0.43	-6.7735	19.9198	0.97084	0.0:1.0:0.0:0.0	.	89	P61221	ABCE1_HUMAN	V	89	ENSP00000296577:A89V	ENSP00000296577:A89V	A	+	2	0	ABCE1	146248693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.707000	0.84623	2.787000	0.95880	0.585000	0.79938	GCC	ABCE1	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like,prints_ABC_E	ENSG00000164163		0.348	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	HGNC	protein_coding	OTTHUMT00000365104.1	-	0.00	50	0	C	NM_002940		146029243	+1	tier1	-	no_errors	ENST00000296577	ensembl	human	known	74_37	missense	36.49	47	27	SNP	1.000	T
ABCG8	64241	genome.wustl.edu	37	2	44101062	44101062	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:44101062G>A	ENST00000272286.2	+	9	1438	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	450	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GGATACAGCCGCCCTCTTGTT	0.552																																																	0													255.0	243.0	247.0					2																	44101062		2203	4300	6503	SO:0001583	missense	0			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1348G>A	2.37:g.44101062G>A	ENSP00000272286:p.Ala450Thr		Q53QN8	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	p.A450T	ENST00000272286.2	37	c.1348	CCDS1815.1	2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788610	0.70337	.	.	ENSG00000143921	ENST00000272286	T	0.72394	-0.65	5.4	4.46	0.54185	ABC-2 type transporter (1);	0.147761	0.64402	D	0.000010	T	0.81814	0.4902	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68039	0.925;0.955	D	0.83939	0.0310	10	0.72032	D	0.01	.	14.9112	0.70758	0.0:0.0:0.8563:0.1437	.	449;450	Q9H221-2;Q9H221	.;ABCG8_HUMAN	T	450	ENSP00000272286:A450T	ENSP00000272286:A450T	A	+	1	0	ABCG8	43954566	1.000000	0.71417	0.952000	0.39060	0.328000	0.28507	4.849000	0.62882	2.536000	0.85505	0.561000	0.74099	GCC	ABCG8	-	pfam_ABC_2_trans	ENSG00000143921		0.552	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	-	0.00	45	0	G	NM_022437		44101062	+1	tier1	-	no_errors	ENST00000272286	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.997	A
ABI3	51225	genome.wustl.edu	37	17	47293972	47293972	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:47293972G>A	ENST00000225941.1	+	2	695	c.197G>A	c.(196-198)gGc>gAc	p.G66D	ABI3_ENST00000419580.2_Missense_Mutation_p.G66D	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	66					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TACCAGGTGGGCAACCTGGCC	0.667										HNSCC(55;0.14)																																							0													30.0	27.0	28.0					17																	47293972		2203	4300	6503	SO:0001583	missense	0			AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.197G>A	17.37:g.47293972G>A	ENSP00000225941:p.Gly66Asp		C9IZN8|Q9H0P6	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.G66D	ENST00000225941.1	37	c.197	CCDS11546.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144479	0.77888	.	.	ENSG00000108798	ENST00000225941;ENST00000419580	D;D	0.92099	-2.97;-2.97	5.35	3.34	0.38264	.	0.065025	0.56097	D	0.000021	D	0.86920	0.6049	N	0.22421	0.69	0.41815	D	0.98999	P;P	0.42296	0.775;0.666	B;B	0.43916	0.436;0.252	D	0.87140	0.2202	10	0.72032	D	0.01	-27.7142	10.3382	0.43862	0.1572:0.0:0.8428:0.0	.	66;66	Q9P2A4-2;Q9P2A4	.;ABI3_HUMAN	D	66	ENSP00000225941:G66D;ENSP00000406651:G66D	ENSP00000225941:G66D	G	+	2	0	ABI3	44648971	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.117000	0.57877	1.247000	0.43917	0.563000	0.77884	GGC	ABI3	-	NULL	ENSG00000108798		0.667	ABI3-001	KNOWN	basic|CCDS	protein_coding	ABI3	HGNC	protein_coding	OTTHUMT00000364475.1	-	0.00	34	0	G	NM_016428		47293972	+1	tier1	-	no_errors	ENST00000225941	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A
ACAA2	10449	genome.wustl.edu	37	18	47329181	47329182	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:47329181_47329182insA	ENST00000285093.10	-	2	533_534	c.58_59insT	c.(58-60)tacfs	p.Y20fs	ACAA2_ENST00000587994.1_Frame_Shift_Ins_p.Y17fs|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_5'UTR	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	20					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						AAGGCCTCCGTAAGCTCCAAAG	0.455																																																	0																																										SO:0001589	frameshift_variant	0			D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.59dupT	18.37:g.47329183_47329183dupA	ENSP00000285093:p.Tyr20fs		Q9BUT6	Frame_Shift_Ins	INS	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.Y20fs	ENST00000285093.10	37	c.59_58	CCDS11939.1	18																																																																																			ACAA2	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000167315		0.455	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACAA2	HGNC	protein_coding	OTTHUMT00000255921.2		0.00	51	0	-	NM_006111		47329182	-1	tier1		no_errors	ENST00000285093	ensembl	human	known	74_37	frame_shift_ins	30.00	21	9	INS	0.687:0.766	A
ACACB	32	genome.wustl.edu	37	12	109634881	109634881	+	Silent	SNP	C	C	T	rs138898549	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:109634881C>T	ENST00000338432.7	+	17	2669	c.2550C>T	c.(2548-2550)caC>caT	p.H850H	ACACB_ENST00000377848.3_Silent_p.H850H|ACACB_ENST00000377854.5_Silent_p.H850H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	850					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TTGATGCCCACCGGCTGAATG	0.592																																																	0								C		0,4406		0,0,2203	69.0	59.0	62.0		2550	3.4	1.0	12	dbSNP_134	62	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	ACACB	NM_001093.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		850/2459	109634881	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2550C>T	12.37:g.109634881C>T			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.H850	ENST00000338432.7	37	c.2550	CCDS31898.1	12																																																																																			ACACB	-	NULL	ENSG00000076555		0.592	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0.00	35	0	C	NM_001093		109634881	+1	tier1	rs138898549	no_errors	ENST00000338432	ensembl	human	known	74_37	silent	12.77	41	6	SNP	1.000	T
ACAD11	84129	genome.wustl.edu	37	3	132363673	132363674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:132363673_132363674insT	ENST00000264990.6	-	2	1187_1188	c.216_217insA	c.(214-219)aaaccafs	p.P73fs	ACAD11_ENST00000481970.2_Frame_Shift_Ins_p.P73fs|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Frame_Shift_Ins_p.P73fs	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	73					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GAACCTGGTGGTTTTTTCCTGA	0.337																																																	0																																										SO:0001589	frameshift_variant	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.217dupA	3.37:g.132363679_132363679dupT	ENSP00000264990:p.Pro73fs		Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Frame_Shift_Ins	INS	pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.P72fs	ENST00000264990.6	37	c.217_216	CCDS3074.1	3																																																																																			ACAD11	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	ENSG00000240303		0.337	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2		0.00	118	0	0	NM_032169		132363674	-1			no_errors	ENST00000264990	ensembl	human	known	74_37	frame_shift_ins	9.32	107	11	INS	1.000:0.997	T
ACAP3	116983	genome.wustl.edu	37	1	1229556	1229556	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1229556G>C	ENST00000354700.5	-	22	2365	c.2163C>G	c.(2161-2163)ttC>ttG	p.F721L	ACAP3_ENST00000353662.3_Missense_Mutation_p.F646L|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	721					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TTTGCAGCAGGAACTCACAGA	0.706																																																	0													20.0	24.0	23.0					1																	1229556		2175	4273	6448	SO:0001583	missense	0			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.2163C>G	1.37:g.1229556G>C	ENSP00000346733:p.Phe721Leu		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.F646L	ENST00000354700.5	37	c.1938	CCDS19.2	1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123716	0.56613	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.60548	0.18;0.18	4.71	2.82	0.32997	Ankyrin repeat-containing domain (4);	0.119241	0.64402	N	0.000020	T	0.36826	0.0981	N	0.00507	-1.42	0.40358	D	0.979215	D;P	0.76494	0.999;0.935	D;P	0.83275	0.996;0.884	T	0.39820	-0.9595	10	0.06757	T	0.87	.	9.8295	0.40932	0.1693:0.0:0.8307:0.0	.	721;646	Q96P50;Q96P50-1	ACAP3_HUMAN;.	L	721;646	ENSP00000346733:F721L;ENSP00000321139:F646L	ENSP00000321139:F646L	F	-	3	2	ACAP3	1219419	1.000000	0.71417	0.990000	0.47175	0.037000	0.13140	1.329000	0.33770	0.514000	0.28300	0.549000	0.68633	TTC	ACAP3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000131584		0.706	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAP3	HGNC	protein_coding	OTTHUMT00000006366.2	-	0.00	25	0	G	NM_030649		1229556	-1	tier1	-	no_errors	ENST00000353662	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	C
ACR	49	genome.wustl.edu	37	22	51183225	51183225	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:51183225G>A	ENST00000216139.5	+	5	896	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	286	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GAACTGGATCGCCTCCAAGAT	0.622																																																	0													18.0	18.0	18.0					22																	51183225		2195	4271	6466	SO:0001583	missense	0			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.856G>A	22.37:g.51183225G>A	ENSP00000216139:p.Ala286Thr		Q6ICK2	Missense_Mutation	SNP	pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.A286T	ENST00000216139.5	37	c.856	CCDS14101.1	22	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659600	0.47467	.	.	ENSG00000100312	ENST00000216139	T	0.59083	0.29	3.88	2.78	0.32641	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.183072	0.26711	N	0.022891	T	0.46870	0.1415	N	0.05592	-0.015	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.40021	-0.9585	10	0.13108	T	0.6	-4.4611	5.62	0.17451	0.1577:0.0:0.8423:0.0	.	286	P10323	ACRO_HUMAN	T	286	ENSP00000216139:A286T	ENSP00000216139:A286T	A	+	1	0	ACR	49530091	0.133000	0.22466	1.000000	0.80357	0.412000	0.31113	1.275000	0.33144	1.997000	0.58415	0.305000	0.20034	GCC	ACR	-	pirsf_Pept_S1A_acrosin,superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1	ENSG00000100312		0.622	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2	-	0.00	84	0	G	NM_001097		51183225	+1	tier1	-	no_errors	ENST00000216139	ensembl	human	known	74_37	missense	13.24	59	9	SNP	0.996	A
ACR	49	genome.wustl.edu	37	22	51183254	51183255	+	Frame_Shift_Del	DEL	TA	TA	-	rs5771002	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:51183254_51183255delTA	ENST00000216139.5	+	5	925_926	c.885_886delTA	c.(883-888)cgtatgfs	p.M296fs	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	296				M -> V (in Ref. 6; CAG30252). {ECO:0000305}.	acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ACGCTTTGCGTATGATTCAATC	0.604																																																	0																																										SO:0001589	frameshift_variant	0			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.885_886delTA	22.37:g.51183254_51183255delTA	ENSP00000216139:p.Met296fs		Q6ICK2	Frame_Shift_Del	DEL	pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.M296fs	ENST00000216139.5	37	c.885_886	CCDS14101.1	22																																																																																			ACR	-	pirsf_Pept_S1A_acrosin	ENSG00000100312		0.604	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2		0.00	76	0	TA	NM_001097		51183255	+1	tier1		no_errors	ENST00000216139	ensembl	human	known	74_37	frame_shift_del	18.92	60	14	DEL	0.000:0.001	-
ACSBG2	81616	genome.wustl.edu	37	19	6147615	6147615	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6147615delA	ENST00000586696.1	+	3	502	c.226delA	c.(226-228)aaafs	p.K77fs	ACSBG2_ENST00000588304.1_Frame_Shift_Del_p.K27fs|ACSBG2_ENST00000591403.1_Frame_Shift_Del_p.K77fs|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Frame_Shift_Del_p.K77fs			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	77					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAGAATGGCAAAAAGTGGGA	0.448																																																	0													159.0	163.0	161.0					19																	6147615		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.226delA	19.37:g.6147615delA	ENSP00000465589:p.Lys77fs		B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Frame_Shift_Del	DEL	pfam_AMP-dep_Synth/Lig	p.K77fs	ENST00000586696.1	37	c.226	CCDS12159.1	19																																																																																			ACSBG2	-	NULL	ENSG00000130377		0.448	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1		0.00	74	0	A	NM_030924		6147615	+1	tier1		no_errors	ENST00000252669	ensembl	human	known	74_37	frame_shift_del	12.33	64	9	DEL	0.000	-
ACSL6	23305	genome.wustl.edu	37	5	131321105	131321105	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:131321105G>A	ENST00000379240.1	-	9	989	c.836C>T	c.(835-837)aCg>aTg	p.T279M	ACSL6_ENST00000379264.2_Missense_Mutation_p.T304M|ACSL6_ENST00000379255.1_Missense_Mutation_p.T244M|ACSL6_ENST00000379249.3_Missense_Mutation_p.T279M|ACSL6_ENST00000431707.1_Missense_Mutation_p.T259M|ACSL6_ENST00000379244.1_Missense_Mutation_p.T279M|ACSL6_ENST00000379246.1_Missense_Mutation_p.T290M|ACSL6_ENST00000296869.4_Missense_Mutation_p.T304M|ACSL6_ENST00000543479.1_Missense_Mutation_p.T279M|ACSL6_ENST00000544770.1_Missense_Mutation_p.T188M|ACSL6_ENST00000357096.1_Missense_Mutation_p.T244M|ACSL6_ENST00000379272.2_Missense_Mutation_p.T294M			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	279					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.T304M(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTACCTGTCGTGCCGCTTGT	0.597																																																	2	Substitution - Missense(2)	endometrium(2)											137.0	105.0	115.0					5																	131321105		2203	4300	6503	SO:0001583	missense	0			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.836C>T	5.37:g.131321105G>A	ENSP00000368542:p.Thr279Met		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T304M	ENST00000379240.1	37	c.911		5	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850367	0.91277	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.29	5.29	0.74685	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.090765	0.85682	D	0.000000	T	0.73001	0.3531	H	0.99726	4.73	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.998;0.998;0.998;0.994;0.994;0.998	D	0.86577	0.1851	10	0.87932	D	0	.	18.9516	0.92643	0.0:0.0:1.0:0.0	.	279;294;269;279;244;304;304	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	M	279;304;294;244;244;304;290;279;188;279;259;279;244	ENSP00000368551:T279M;ENSP00000368566:T304M;ENSP00000368574:T294M;ENSP00000349608:T244M;ENSP00000368557:T244M;ENSP00000296869:T304M;ENSP00000368548:T290M;ENSP00000368546:T279M;ENSP00000445154:T188M;ENSP00000368542:T279M;ENSP00000413329:T259M;ENSP00000442124:T279M;ENSP00000397507:T244M	ENSP00000296869:T304M	T	-	2	0	ACSL6	131349004	1.000000	0.71417	0.905000	0.35620	0.859000	0.49053	9.805000	0.99149	2.486000	0.83907	0.563000	0.77884	ACG	ACSL6	-	pfam_AMP-dep_Synth/Lig	ENSG00000164398		0.597	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	HGNC	protein_coding	OTTHUMT00000132622.1	-	0.00	33	0	G	NM_015256		131321105	-1	tier1	-	no_errors	ENST00000296869	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	A
ACSS1	84532	genome.wustl.edu	37	20	25038639	25038639	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:25038639G>A	ENST00000323482.4	-	1	179	c.100C>T	c.(100-102)Ccg>Tcg	p.P34S	ACSS1_ENST00000376726.3_Missense_Mutation_p.P34S|ACSS1_ENST00000432802.2_Missense_Mutation_p.P34S	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	34					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCCTGCGCGGCGCGCTCACC	0.786																																																	0													2.0	2.0	2.0					20																	25038639		1567	3178	4745	SO:0001583	missense	0				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.100C>T	20.37:g.25038639G>A	ENSP00000316924:p.Pro34Ser		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	p.P34S	ENST00000323482.4	37	c.100	CCDS13167.1	20	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265730	0.40095	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000432802;ENST00000376726	T;T;T	0.21031	2.03;2.03;2.03	3.09	-0.809	0.10864	.	9.114850	0.00166	N	0.000010	T	0.09992	0.0245	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.17684	-1.0361	10	0.19590	T	0.45	-1.8308	3.0261	0.06091	0.156:0.0:0.3833:0.4607	.	34;34;34	E9PC79;Q9NUB1-2;Q9NUB1	.;.;ACS2L_HUMAN	S	34	ENSP00000316924:P34S;ENSP00000388793:P34S;ENSP00000365916:P34S	ENSP00000316924:P34S	P	-	1	0	ACSS1	24986639	0.001000	0.12720	0.000000	0.03702	0.359000	0.29487	0.718000	0.25866	0.102000	0.17638	0.313000	0.20887	CCG	ACSS1	-	NULL	ENSG00000154930		0.786	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	-	0.00	23	0	G	NM_032501		25038639	-1	tier1	-	no_errors	ENST00000323482	ensembl	human	known	74_37	missense	37.50	5	3	SNP	0.000	A
ACTA2	59	genome.wustl.edu	37	10	90701031	90701031	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:90701031G>T	ENST00000458208.1	-	6	1045	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.L191I|ACTA2_ENST00000480297.1_5'UTR|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000596007.1_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	191					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ATCTTCATGAGGTAGTCAGTG	0.542																																																	0													140.0	109.0	120.0					10																	90701031		2203	4300	6503	SO:0001583	missense	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.571C>A	10.37:g.90701031G>T	ENSP00000402373:p.Leu191Ile		B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.L191I	ENST00000458208.1	37	c.571	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681317	0.68042	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.95690	-3.78;-3.78	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.88241	2.94	0.54753	D	0.999982	B	0.24533	0.105	P	0.51101	0.659	D	0.97105	0.9800	10	0.87932	D	0	.	18.7419	0.91777	0.0:0.0:1.0:0.0	.	191	P62736	ACTA_HUMAN	I	191;191;146	ENSP00000224784:L191I;ENSP00000402373:L191I	ENSP00000224784:L191I	L	-	1	0	ACTA2	90691011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.862000	0.87013	2.762000	0.94881	0.655000	0.94253	CTC	ACTA2	-	pfam_Actin-related,smart_Actin-related	ENSG00000107796		0.542	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1	-	0.00	61	0	G	NM_001613		90701031	-1	tier1	-	no_errors	ENST00000224784	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
ACTL8	81569	genome.wustl.edu	37	1	18152879	18152879	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:18152879C>A	ENST00000375406.1	+	3	1182	c.966C>A	c.(964-966)tcC>tcA	p.S322S		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	322					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ACGTCTCCTCCACCAAGGCCA	0.587											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													74.0	80.0	78.0					1																	18152879		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.966C>A	1.37:g.18152879C>A		723	Q13104|Q96M75	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.S322	ENST00000375406.1	37	c.966	CCDS183.1	1																																																																																			ACTL8	-	pfam_Actin-related,smart_Actin-related	ENSG00000117148		0.587	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL8	HGNC	protein_coding	OTTHUMT00000007143.1	-	0.00	62	0	C	NM_030812		18152879	+1	tier1	-	no_errors	ENST00000375406	ensembl	human	known	74_37	silent	21.43	66	18	SNP	0.000	A
C1orf146	388649	genome.wustl.edu	37	1	92694219	92694219	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:92694219G>T	ENST00000370375.3	+	2	109				ACTBP12_ENST00000594933.1_RNA|C1orf146_ENST00000370373.2_Intron|AL451010.1_ENST00000581900.1_RNA	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GCACAGATCGGAGACTGCTGG	0.507																																																	0																																										SO:0001627	intron_variant	0				CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.-39-2720G>T	1.37:g.92694219G>T			Q5VVC4	RNA	SNP	-	NULL	ENST00000370375.3	37	NULL	CCDS30772.1	1																																																																																			ACTBP12	-	-	ENSG00000233125		0.507	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBP12	HGNC	protein_coding	OTTHUMT00000028364.1	-	0.00	28	0	G	NM_001012425		92694219	-1	tier1	-	no_errors	ENST00000594933	ensembl	human	known	74_37	rna	15.15	28	5	SNP	0.590	T
ZDHHC24	254359	genome.wustl.edu	37	11	66314452	66314452	+	5'Flank	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66314452G>A	ENST00000310442.3	-	0	0				ZDHHC24_ENST00000526986.1_5'Flank|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|ZDHHC24_ENST00000525925.1_5'Flank	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24							integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GCCGGGGAGGGGCGCTTTgcg	0.716																																																	0													7.0	10.0	9.0					11																	66314452		2141	4239	6380	SO:0001631	upstream_gene_variant	0			BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98			11.37:g.66314452G>A	Exception_encountered		Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	NULL	p.G15E	ENST00000310442.3	37	c.44	CCDS8143.1	11																																																																																			ACTN3	-	NULL	ENSG00000248746		0.716	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN3	HGNC	protein_coding	OTTHUMT00000393089.1	-	0.00	108	0	G	NM_207340		66314452	+1	tier1	-	no_errors	ENST00000511191	ensembl	human	known	74_37	missense	13.33	91	14	SNP	0.911	A
ACTN4	81	genome.wustl.edu	37	19	39208640	39208640	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:39208640G>A	ENST00000252699.2	+	11	1293	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Missense_Mutation_p.R187H	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	406					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AATGAGATCCGCAGGCTGGAG	0.647																																					Colon(168;199 1940 10254 46213 46384)												0													47.0	33.0	38.0					19																	39208640		2203	4299	6502	SO:0001583	missense	0			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1217G>A	19.37:g.39208640G>A	ENSP00000252699:p.Arg406His		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R406H	ENST00000252699.2	37	c.1217	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008747	0.93346	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000390009	T;T	0.70399	-0.48;-0.48	3.84	3.84	0.44239	.	0.000000	0.64402	D	0.000001	T	0.81206	0.4774	M	0.84219	2.685	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.56648	0.803;0.793	D	0.84257	0.0481	10	0.51188	T	0.08	.	15.055	0.71908	0.0:0.0:1.0:0.0	.	406;406	E7EV83;O43707	.;ACTN4_HUMAN	H	406;406;187	ENSP00000252699:R406H;ENSP00000439497:R187H	ENSP00000252699:R406H	R	+	2	0	ACTN4	43900480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.618000	0.98365	2.155000	0.67459	0.655000	0.94253	CGC	ACTN4	-	NULL	ENSG00000130402		0.647	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	-	0.00	55	0	G			39208640	+1	tier1	-	no_errors	ENST00000252699	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	A
ACTR3B	57180	genome.wustl.edu	37	7	152549324	152549324	+	Silent	SNP	C	C	T	rs144915052	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:152549324C>T	ENST00000256001.8	+	10	1199	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	ACTR3B_ENST00000537264.1_Silent_p.G267G|ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000397282.2_Silent_p.G267G	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	355						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		AGCTCAGCGGCGGGAGGATCA	0.632													C|||	7	0.00139776	0.0023	0.0043	5008	,	,		15197	0.0		0.0	False		,,,				2504	0.001																0								C	,	10,4396	17.9+/-39.9	0,10,2193	76.0	74.0	75.0		,1065	-9.3	0.1	7	dbSNP_134	75	0,8600		0,0,4300	no	intron,coding-synonymous	ACTR3B	NM_001040135.1,NM_020445.4	,	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	,	,355/419	152549324	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.1065C>T	7.37:g.152549324C>T			A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	pfam_Actin-related,smart_Actin-related	p.G355	ENST00000256001.8	37	c.1065	CCDS5934.1	7																																																																																			ACTR3B	-	pfam_Actin-related,smart_Actin-related	ENSG00000133627		0.632	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	-	0.00	50	0	C	NM_020445		152549324	+1	tier1	rs144915052	no_errors	ENST00000256001	ensembl	human	known	74_37	silent	22.45	38	11	SNP	0.114	T
ACTR3B	57180	genome.wustl.edu	37	7	152550626	152550626	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:152550626C>T	ENST00000256001.8	+	11	1259	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	ACTR3B_ENST00000537264.1_Silent_p.Y287Y|ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000397282.2_Silent_p.Y287Y	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	375						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		TGCAGCGCTACGCCGTGTGGT	0.567																																																	0													185.0	108.0	134.0					7																	152550626		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.1125C>T	7.37:g.152550626C>T			A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	pfam_Actin-related,smart_Actin-related	p.Y375	ENST00000256001.8	37	c.1125	CCDS5934.1	7																																																																																			ACTR3B	-	pfam_Actin-related,smart_Actin-related	ENSG00000133627		0.567	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	-	0.00	27	0	C	NM_020445		152550626	+1	tier1	-	no_errors	ENST00000256001	ensembl	human	known	74_37	silent	23.08	20	6	SNP	0.930	T
ACTRT2	140625	genome.wustl.edu	37	1	2939156	2939156	+	Frame_Shift_Del	DEL	G	G	-	rs539561070		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:2939156delG	ENST00000378404.2	+	1	1111	c.906delG	c.(904-906)tcgfs	p.S302fs		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	302						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TTGTGCTGTCGGGGGGCACTA	0.612																																																	0													54.0	63.0	60.0					1																	2939156		2203	4300	6503	SO:0001589	frameshift_variant	0			AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.906delG	1.37:g.2939156delG	ENSP00000367658:p.Ser302fs		B1AN52|Q8NHS6|Q8TDG1	Frame_Shift_Del	DEL	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.G304fs	ENST00000378404.2	37	c.906	CCDS45.1	1																																																																																			ACTRT2	-	pfam_Actin-related,smart_Actin-related	ENSG00000169717		0.612	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT2	HGNC	protein_coding	OTTHUMT00000001331.1		0.00	75	0	G	NM_080431		2939156	+1	tier1		no_errors	ENST00000378404	ensembl	human	known	74_37	frame_shift_del	10.39	69	8	DEL	0.003	-
ACY1	95	genome.wustl.edu	37	3	52022810	52022810	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:52022810C>T	ENST00000404366.2	+	14	1176	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	ACY1_ENST00000476351.1_Missense_Mutation_p.P309S|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.P445S|ACY1_ENST00000476854.1_Missense_Mutation_p.P279S|ACY1_ENST00000458031.2_Missense_Mutation_p.P434S|ACY1_ENST00000494103.1_Missense_Mutation_p.P272S	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	344					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	TGAGATCATGCCTGCTGCCAC	0.557																																																	0													159.0	172.0	168.0					3																	52022810		2203	4300	6503	SO:0001583	missense	0			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.1030C>T	3.37:g.52022810C>T	ENSP00000384296:p.Pro344Ser		C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	p.P434S	ENST00000404366.2	37	c.1300	CCDS2844.1	3	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644575	0.47258	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366	D;D;D;D;T;D	0.82433	-1.61;-1.61;-1.61;-1.61;0.78;-1.61	5.69	3.73	0.42828	.	0.052306	0.85682	N	0.000000	D	0.86973	0.6062	M	0.76170	2.325	0.80722	D	1	P;B	0.40534	0.72;0.345	P;B	0.50934	0.654;0.367	D	0.86241	0.1643	10	0.62326	D	0.03	-14.4207	11.9042	0.52701	0.0:0.847:0.0:0.153	.	434;344	B4DNW0;Q03154	.;ACY1_HUMAN	S	434;445;344;279;309;272;344	ENSP00000390557:P434S;ENSP00000420487:P445S;ENSP00000419262:P279S;ENSP00000417056:P309S;ENSP00000417618:P272S;ENSP00000384296:P344S	ENSP00000384296:P344S	P	+	1	0	ACY1;RP11-155D18.11	51997850	1.000000	0.71417	0.995000	0.50966	0.048000	0.14542	3.355000	0.52262	0.628000	0.30357	0.655000	0.94253	CCT	ACY1	-	pfam_Peptidase_M20,tigrfam_N-acyl_aa_amidohydrolase	ENSG00000243989		0.557	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY1	HGNC	protein_coding	OTTHUMT00000349657.1	-	0.00	50	0	C	NM_000666		52022810	+1	tier1	-	no_errors	ENST00000458031	ensembl	human	known	74_37	missense	12.50	27	4	SNP	1.000	T
ADAD2	161931	genome.wustl.edu	37	16	84228780	84228780	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:84228780C>T	ENST00000315906.5	+	4	765	c.713C>T	c.(712-714)gCt>gTt	p.A238V	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.A310V	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	238					RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GGGACTGTGGCTGGAGTCATC	0.682																																																	0													26.0	28.0	27.0					16																	84228780		2200	4299	6499	SO:0001583	missense	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.713C>T	16.37:g.84228780C>T	ENSP00000325153:p.Ala238Val		B2RCL6|Q8NA94	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.A310V	ENST00000315906.5	37	c.929	CCDS45536.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988525	0.74589	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.29142	1.58;2.03	4.9	4.9	0.64082	.	0.084048	0.44285	D	0.000476	T	0.49270	0.1547	L	0.49126	1.545	0.43263	D	0.9952	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.49688	-0.8913	10	0.87932	D	0	-17.2307	13.9453	0.64080	0.0:1.0:0.0:0.0	.	238;310	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	V	238;310	ENSP00000325153:A238V;ENSP00000268624:A310V	ENSP00000268624:A310V	A	+	2	0	ADAD2	82786281	0.995000	0.38212	0.855000	0.33649	0.464000	0.32679	4.273000	0.58914	2.419000	0.82065	0.650000	0.86243	GCT	ADAD2	-	smart_A_deamin	ENSG00000140955		0.682	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1	-	0.00	122	0	C	NM_139174		84228780	+1	tier1	-	no_errors	ENST00000268624	ensembl	human	known	74_37	missense	7.50	111	9	SNP	0.970	T
ADAM2	2515	genome.wustl.edu	37	8	39603995	39603995	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:39603995C>T	ENST00000265708.4	-	19	2273	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	ADAM2_ENST00000521880.1_Missense_Mutation_p.D661N|ADAM2_ENST00000347580.4_Missense_Mutation_p.D705N|ADAM2_ENST00000379853.2_Missense_Mutation_p.D568N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	724					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATATACTCATCGCTTGAATAG	0.269																																																	0													91.0	95.0	94.0					8																	39603995		2203	4296	6499	SO:0001583	missense	0			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.2170G>A	8.37:g.39603995C>T	ENSP00000265708:p.Asp724Asn		P78326|Q9UQQ8	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D724N	ENST00000265708.4	37	c.2170	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	C	8.302	0.820132	0.16678	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02472	4.96;4.28;5.2;5.07	3.85	2.04	0.26737	.	.	.	.	.	T	0.04318	0.0119	L	0.49126	1.545	0.22835	N	0.998672	D;P;D;D	0.61080	0.981;0.946;0.989;0.981	B;B;P;B	0.46718	0.326;0.326;0.525;0.326	T	0.42361	-0.9456	9	0.42905	T	0.14	.	5.8717	0.18807	0.0:0.7603:0.0:0.2397	.	661;568;705;724	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	N	705;568;724;661	ENSP00000343854:D705N;ENSP00000369182:D568N;ENSP00000265708:D724N;ENSP00000429352:D661N	ENSP00000265708:D724N	D	-	1	0	ADAM2	39723152	0.952000	0.32445	0.984000	0.44739	0.384000	0.30261	0.694000	0.25512	0.589000	0.29677	0.585000	0.79938	GAT	ADAM2	-	NULL	ENSG00000104755		0.269	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1	-	0.00	69	0	C	NM_001464		39603995	-1	tier1	-	no_errors	ENST00000265708	ensembl	human	known	74_37	missense	14.78	98	17	SNP	0.987	T
ADAM30	11085	genome.wustl.edu	37	1	120437822	120437823	+	Frame_Shift_Ins	INS	-	-	A	rs139123456		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:120437822_120437823insA	ENST00000369400.1	-	1	1295_1296	c.1137_1138insT	c.(1135-1140)tttaaafs	p.K380fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	380	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GAGATATGTTTAAAAAAAGAGA	0.401																																																	0																																										SO:0001589	frameshift_variant	0			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1138dupT	1.37:g.120437829_120437829dupA	ENSP00000358407:p.Lys380fs		A8K8W8|Q5T3X6|Q9UKF1	Frame_Shift_Ins	INS	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.K379fs	ENST00000369400.1	37	c.1138_1137	CCDS907.1	1																																																																																			ADAM30	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134249		0.401	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1		0.00	54	0	0	NM_021794		120437823	-1			no_errors	ENST00000369400	ensembl	human	known	74_37	frame_shift_ins	10.17	53	6	INS	0.000:0.000	A
ADAM3A	1587	genome.wustl.edu	37	8	39313017	39313018	+	RNA	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:39313017_39313018insT	ENST00000490268.2	-	0	2298_2299					NR_073423.1				ADAM metallopeptidase domain 3A (pseudogene)																		CAAGGGTACACTTTTTTCTGAA	0.302																																																	0																																												0			X89657		8p11.22	2012-06-11	2012-06-11		ENSG00000197475	ENSG00000197475		"""ADAM metallopeptidase domain containing"""	209	pseudogene	pseudogene			"""cyritestin 1"", ""a disintegrin and metalloproteinase domain 3a (cyritestin 1)"", ""ADAM metallopeptidase domain 3A, pseudogene"", ""ADAM metallopeptidase domain 3A"""	CYRN1		9502432, 11439107	Standard	NR_024107		Approved	ADAM3, tMDCI	uc003xnf.4		OTTHUMG00000154991		8.37:g.39313023_39313023dupT				RNA	INS	-	NULL	ENST00000490268.2	37	NULL		8																																																																																			ADAM3A	-	-	ENSG00000197475		0.302	ADAM3A-005	KNOWN	basic	processed_transcript	ADAM3A	HGNC	pseudogene	OTTHUMT00000337953.1		0.00	36	0	-	NR_001569		39313018	-1	tier1		no_errors	ENST00000460383	ensembl	human	known	74_37	rna	29.63	19	8	INS	0.000:0.001	T
ADAMTS2	9509	genome.wustl.edu	37	5	178699931	178699931	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:178699931delC	ENST00000251582.7	-	3	770	c.669delG	c.(667-669)gggfs	p.G223fs	ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.G223fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	223					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGCCTGTGGCCCCCCGAGAG	0.677																																																	0													46.0	51.0	49.0					5																	178699931		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.669delG	5.37:g.178699931delC	ENSP00000251582:p.Gly223fs			Frame_Shift_Del	DEL	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.P224fs	ENST00000251582.7	37	c.669	CCDS4444.1	5																																																																																			ADAMTS2	-	prints_Pept_M12B_ADAM-TS2	ENSG00000087116		0.677	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1		0.00	96	0	C	NM_014244		178699931	-1	tier1		no_errors	ENST00000251582	ensembl	human	known	74_37	frame_shift_del	11.83	82	11	DEL	0.001	-
ADAMTS20	80070	genome.wustl.edu	37	12	43817528	43817528	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:43817528delC	ENST00000553158.1	-	29	4483	c.4484delG	c.(4483-4485)ggafs	p.G1495fs	ADAMTS20_ENST00000395541.2_Frame_Shift_Del_p.G613fs|ADAMTS20_ENST00000389420.3_Intron			P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	0	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTCAAAtctccccaagtaaa	0.333																																																	0													2.0	2.0	2.0					12																	43817528		566	1324	1890	SO:0001589	frameshift_variant	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000553158.1:c.4484delG	12.37:g.43817528delC	ENSP00000448341:p.Gly1495fs		A6NNC9|J3QT00	Frame_Shift_Del	DEL	pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G1495fs	ENST00000553158.1	37	c.4484		12																																																																																			ADAMTS20	-	NULL	ENSG00000173157		0.333	ADAMTS20-002	KNOWN	basic	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403645.1		0.00	61	0	C	NM_025003		43817528	-1	tier1		no_errors	ENST00000553158	ensembl	human	known	74_37	frame_shift_del	19.57	37	9	DEL	0.000	-
ADAMTS9	56999	genome.wustl.edu	37	3	64582642	64582642	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:64582642G>T	ENST00000498707.1	-	27	4385	c.4043C>A	c.(4042-4044)tCc>tAc	p.S1348Y	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S1320Y	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1348	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACGCCGCTGGGATCCGCCAGC	0.493																																																	0													101.0	95.0	97.0					3																	64582642		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4043C>A	3.37:g.64582642G>T	ENSP00000418735:p.Ser1348Tyr		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S1348Y	ENST00000498707.1	37	c.4043	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.437947|2.437947	0.43326|0.43326	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.56103	.|0.48;0.48	5.4|5.4	3.45|3.45	0.39498|0.39498	.|.	.|0.299200	.|0.33691	.|N	.|0.004659	T|T	0.25306|0.25306	0.0615|0.0615	N|N	0.12471|0.12471	0.22|0.22	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.32573	.|0.095;0.376;0.095	.|B;B;B	.|0.36845	.|0.158;0.234;0.158	T|T	0.30475|0.30475	-0.9977|-0.9977	5|10	.|0.02654	.|T	.|1	.|.	2.3641|2.3641	0.04315|0.04315	0.2211:0.0:0.4939:0.285|0.2211:0.0:0.4939:0.285	.|.	.|1320;1348;1348	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	T|Y	404|1320;1348	.|ENSP00000295903:S1320Y;ENSP00000418735:S1348Y	.|ENSP00000295903:S1320Y	P|S	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64557682|64557682	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.972000|0.972000	0.66771|0.66771	5.880000|5.880000	0.69698|0.69698	1.501000|1.501000	0.48654|0.48654	-0.282000|-0.282000	0.10007|0.10007	CCC|TCC	ADAMTS9	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.493	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0.00	31	0	G			64582642	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	T
AZIN2	113451	genome.wustl.edu	37	1	33549639	33549639	+	Missense_Mutation	SNP	C	C	T	rs148628180		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:33549639C>T	ENST00000294517.6	+	5	777	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ADC_ENST00000373440.1_Missense_Mutation_p.R64W|ADC_ENST00000398167.1_Missense_Mutation_p.R64W|ADC_ENST00000373441.1_Missense_Mutation_p.R64W|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Missense_Mutation_p.R64W|ADC_ENST00000358680.3_Missense_Mutation_p.R64W	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		64					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	GCCACGAGTCCGGCCCTTTTA	0.567																																																	0								C	TRP/ARG	0,4406		0,0,2203	94.0	81.0	85.0		190	2.7	1.0	1	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADC	NM_052998.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	64/461	33549639	1,13005	2203	4300	6503	SO:0001583	missense	0																														ENST00000294517.6:c.190C>T	1.37:g.33549639C>T	ENSP00000294517:p.Arg64Trp		B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.R64W	ENST00000294517.6	37	c.190	CCDS375.1	1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.913808	0.72983	0.0	1.16E-4	ENSG00000142920	ENST00000294517;ENST00000341637;ENST00000358680;ENST00000373443;ENST00000398167;ENST00000373440;ENST00000373441	T;T;T;T;T;T	0.49432	0.79;0.81;0.79;0.78;0.81;0.78	4.84	2.65	0.31530	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.901887	0.09349	N	0.814331	T	0.63640	0.2528	M	0.76574	2.34	0.35078	D	0.763116	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	P;D;P;P	0.67382	0.862;0.951;0.736;0.828	T	0.66337	-0.5949	10	0.62326	D	0.03	-5.1056	5.9032	0.18978	0.3941:0.5037:0.0:0.1022	.	64;64;64;64	Q96A70-2;Q96A70-5;Q96A70-3;Q96A70	.;.;.;ADC_HUMAN	W	64	ENSP00000294517:R64W;ENSP00000351508:R64W;ENSP00000362542:R64W;ENSP00000381233:R64W;ENSP00000362539:R64W;ENSP00000362540:R64W	ENSP00000294517:R64W	R	+	1	2	ADC	33322226	0.970000	0.33590	1.000000	0.80357	0.944000	0.59088	5.400000	0.66320	1.172000	0.42781	0.557000	0.71058	CGG	ADC	-	pfam_De-COase2_N	ENSG00000142920		0.567	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	-	0.00	37	0	C			33549639	+1	tier1	rs148628180	no_errors	ENST00000373441	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.999	T
ADCK5	203054	genome.wustl.edu	37	8	145616338	145616338	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145616338A>G	ENST00000308860.6	+	6	592	c.548A>G	c.(547-549)gAt>gGt	p.D183G	CPSF1_ENST00000531727.1_5'Flank|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	183	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TTCCAGGTGGATGAGTTGTTC	0.637																																																	0													52.0	52.0	52.0					8																	145616338		2203	4300	6503	SO:0001583	missense	0			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.548A>G	8.37:g.145616338A>G	ENSP00000310547:p.Asp183Gly		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.D183G	ENST00000308860.6	37	c.548	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440147	0.43326	.	.	ENSG00000173137	ENST00000308860	T	0.75477	-0.94	5.04	5.04	0.67666	Protein kinase-like domain (1);	0.128820	0.49305	D	0.000143	T	0.67239	0.2872	L	0.58428	1.81	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.61212	-0.7108	10	0.14252	T	0.57	-15.7589	11.1574	0.48495	1.0:0.0:0.0:0.0	.	183	Q3MIX3	ADCK5_HUMAN	G	183	ENSP00000310547:D183G	ENSP00000310547:D183G	D	+	2	0	ADCK5	145587146	1.000000	0.71417	0.967000	0.41034	0.803000	0.45373	5.453000	0.66645	1.893000	0.54813	0.379000	0.24179	GAT	ADCK5	-	superfamily_Kinase-like_dom	ENSG00000173137		0.637	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	-	0.00	44	0	A	NM_174922		145616338	+1	tier1	-	no_errors	ENST00000308860	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.999	G
ADCY2	108	genome.wustl.edu	37	5	7782358	7782358	+	Intron	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:7782358A>G	ENST00000338316.4	+	19	2473				ADCY2_ENST00000537121.1_Intron	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATTCCTCAGGAAGACTCAAGA	0.522																																																	0																																										SO:0001627	intron_variant	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2385-2120A>G	5.37:g.7782358A>G			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	RNA	SNP	-	NULL	ENST00000338316.4	37	NULL	CCDS3872.2	5																																																																																			ADCY2	-	-	ENSG00000078295		0.522	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	-	0.00	78	0	A	NM_020546		7782358	+1	tier1	-	no_errors	ENST00000382531	ensembl	human	known	74_37	rna	17.33	62	13	SNP	0.000	G
ADCY4	196883	genome.wustl.edu	37	14	24795358	24795358	+	Frame_Shift_Del	DEL	G	G	-	rs201057600		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:24795358delG	ENST00000310677.4	-	13	1695	c.1582delC	c.(1582-1584)cggfs	p.R528fs	ADCY4_ENST00000554068.2_Frame_Shift_Del_p.R528fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.R528fs|ADCY4_ENST00000396747.3_Frame_Shift_Del_p.R221fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	528					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCTAGTCCCCGGGGGGTACGG	0.602																																																	0													63.0	61.0	61.0					14																	24795358		2203	4300	6503	SO:0001589	frameshift_variant	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1582delC	14.37:g.24795358delG	ENSP00000312126:p.Arg528fs		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Frame_Shift_Del	DEL	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R528fs	ENST00000310677.4	37	c.1582	CCDS9627.1	14																																																																																			ADCY4	-	pfam_Adenylate_cyclase-like	ENSG00000129467		0.602	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4		0.00	31	0	G			24795358	-1	tier1		no_errors	ENST00000310677	ensembl	human	known	74_37	frame_shift_del	29.63	19	8	DEL	0.554	-
ADCY8	114	genome.wustl.edu	37	8	132051742	132051742	+	Missense_Mutation	SNP	C	C	T	rs377243453		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:132051742C>T	ENST00000286355.5	-	1	2930	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	ADCY8_ENST00000377928.3_Missense_Mutation_p.A280T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	280					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGTAGGTGGCGAAGAGCGTG	0.667										HNSCC(32;0.087)																																							0								C	THR/ALA	0,4406		0,0,2203	46.0	46.0	46.0		838	5.5	1.0	8		46	1,8597	1.2+/-3.3	0,1,4298	no	missense	ADCY8	NM_001115.2	58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	280/1252	132051742	1,13003	2203	4299	6502	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.838G>A	8.37:g.132051742C>T	ENSP00000286355:p.Ala280Thr			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A280T	ENST00000286355.5	37	c.838	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735729	0.69189	0.0	1.16E-4	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.47869	0.83;0.83	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	L	0.35341	1.055	0.54753	D	0.999986	D;D	0.76494	0.999;0.981	D;B	0.72625	0.978;0.299	T	0.52170	-0.8611	10	0.28530	T	0.3	.	18.2863	0.90115	0.0:1.0:0.0:0.0	.	280;280	E7EVL1;P40145	.;ADCY8_HUMAN	T	280	ENSP00000286355:A280T;ENSP00000367161:A280T	ENSP00000286355:A280T	A	-	1	0	ADCY8	132120924	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.463000	0.80869	2.580000	0.87095	0.455000	0.32223	GCC	ADCY8	-	NULL	ENSG00000155897		0.667	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1		0.00	36	0	C			132051742	-1			no_errors	ENST00000286355	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T
ADCY8	114	genome.wustl.edu	37	8	132052482	132052482	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:132052482G>A	ENST00000286355.5	-	1	2190	c.98C>T	c.(97-99)cCg>cTg	p.P33L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P33L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	33					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGCCGCTGCGGCCGGGAGGC	0.716										HNSCC(32;0.087)																																							0													3.0	4.0	3.0					8																	132052482		1742	3580	5322	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.98C>T	8.37:g.132052482G>A	ENSP00000286355:p.Pro33Leu			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P33L	ENST00000286355.5	37	c.98	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702775	0.68501	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.63913	-0.07;-0.07	4.55	4.55	0.56014	.	0.167503	0.39146	N	0.001459	T	0.71039	0.3293	L	0.36672	1.1	0.58432	D	0.999997	D;P	0.89917	1.0;0.764	D;B	0.81914	0.995;0.141	T	0.74297	-0.3711	10	0.66056	D	0.02	.	16.0405	0.80679	0.0:0.0:1.0:0.0	.	33;33	E7EVL1;P40145	.;ADCY8_HUMAN	L	33	ENSP00000286355:P33L;ENSP00000367161:P33L	ENSP00000286355:P33L	P	-	2	0	ADCY8	132121664	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.496000	0.73670	2.383000	0.81215	0.462000	0.41574	CCG	ADCY8	-	NULL	ENSG00000155897		0.716	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0.00	20	0	G			132052482	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	A
ADCY9	115	genome.wustl.edu	37	16	4029160	4029160	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:4029160G>T	ENST00000294016.3	-	8	3174	c.2636C>A	c.(2635-2637)gCc>gAc	p.A879D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	879					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGAGTAGACGGCCAGTGCGGG	0.577																																																	0													130.0	125.0	126.0					16																	4029160		2197	4300	6497	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2636C>A	16.37:g.4029160G>T	ENSP00000294016:p.Ala879Asp		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A879D	ENST00000294016.3	37	c.2636	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693929	0.48202	.	.	ENSG00000162104	ENST00000294016	D	0.85088	-1.94	5.59	5.59	0.84812	.	0.110180	0.64402	D	0.000009	D	0.83170	0.5196	L	0.50333	1.59	0.46356	D	0.999009	P	0.50272	0.933	P	0.44860	0.462	D	0.84932	0.0860	10	0.66056	D	0.02	.	12.8792	0.58008	0.0743:0.0:0.9257:0.0	.	879	O60503	ADCY9_HUMAN	D	879	ENSP00000294016:A879D	ENSP00000294016:A879D	A	-	2	0	ADCY9	3969161	0.992000	0.36948	0.130000	0.21974	0.013000	0.08279	6.426000	0.73374	2.617000	0.88574	0.655000	0.94253	GCC	ADCY9	-	NULL	ENSG00000162104		0.577	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	-	0.00	61	0	G			4029160	-1	tier1	-	no_errors	ENST00000294016	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.934	T
ADD3	120	genome.wustl.edu	37	10	111884031	111884031	+	Splice_Site	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:111884031C>T	ENST00000356080.4	+	10	1767	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	ADD3_ENST00000360162.3_Splice_Site_p.T467M|ADD3_ENST00000277900.8_Splice_Site_p.T467M	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	467						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACCAAAATCACGGTATGCCAG	0.358																																																	0													80.0	79.0	79.0					10																	111884031		2203	4300	6503	SO:0001630	splice_region_variant	0			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1401+1C>T	10.37:g.111884031C>T			D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.T467M	ENST00000356080.4	37	c.1400	CCDS7561.1	10	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715728	0.68844	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.18810	2.19;2.19;2.19	6.03	6.03	0.97812	.	0.219529	0.46758	D	0.000280	T	0.25121	0.0610	N	0.20845	0.615	0.80722	D	1	P;D	0.59357	0.809;0.985	B;P	0.50082	0.11;0.63	T	0.00731	-1.1590	10	0.51188	T	0.08	-14.457	20.5568	0.99304	0.0:1.0:0.0:0.0	.	467;467	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	M	467	ENSP00000353286:T467M;ENSP00000348381:T467M;ENSP00000277900:T467M	ENSP00000277900:T467M	T	+	2	0	ADD3	111874021	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	2.678000	0.46900	2.861000	0.98227	0.655000	0.94253	ACG	ADD3	-	NULL	ENSG00000148700		0.358	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	-	0.00	39	0	C	NM_019903	Missense_Mutation	111884031	+1	tier1	-	no_errors	ENST00000356080	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	T
ADD3	120	genome.wustl.edu	37	10	111893350	111893350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:111893350delA	ENST00000356080.4	+	15	2462	c.2095delA	c.(2095-2097)aaafs	p.K701fs	ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs|ADD3_ENST00000277900.8_Frame_Shift_Del_p.K669fs	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	701	Interaction with calmodulin. {ECO:0000255}.					cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAAAAGAACAAAAAAAAGGA	0.333																																																	0													51.0	59.0	56.0					10																	111893350		2198	4295	6493	SO:0001589	frameshift_variant	0			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.2095delA	10.37:g.111893350delA	ENSP00000348381:p.Lys701fs		D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Frame_Shift_Del	DEL	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.K701fs	ENST00000356080.4	37	c.2095	CCDS7561.1	10																																																																																			ADD3	-	NULL	ENSG00000148700		0.333	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1		0.00	37	0	A	NM_019903		111893350	+1	tier1		no_errors	ENST00000356080	ensembl	human	known	74_37	frame_shift_del	55.88	15	19	DEL	1.000	-
ADH6	130	genome.wustl.edu	37	4	100131401	100131401	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:100131401T>C	ENST00000237653.7	-	5	789	c.405A>G	c.(403-405)ggA>ggG	p.G135G	ADH6_ENST00000394899.2_Silent_p.G135G|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Silent_p.G135G|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	135					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ATATTGATTTTCCCTTGCAGG	0.368																																																	0													97.0	95.0	96.0					4																	100131401		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.405A>G	4.37:g.100131401T>C			B3KS45|Q58F53	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.G135	ENST00000237653.7	37	c.405	CCDS3647.1	4																																																																																			ADH6	-	pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	ENSG00000172955		0.368	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	HGNC	protein_coding	OTTHUMT00000253665.1	-	0.00	78	0	T	NM_000672		100131401	-1	tier1	-	no_errors	ENST00000394899	ensembl	human	known	74_37	silent	6.06	61	4	SNP	0.802	C
ADORA1	134	genome.wustl.edu	37	1	203134456	203134456	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:203134456G>A	ENST00000367236.4	+	3	1330	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	ADORA1_ENST00000337894.4_Missense_Mutation_p.V137M|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.V137M	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	137					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CCTCTCCTTCGTGGTGGGACT	0.647																																																	0													71.0	74.0	73.0					1																	203134456		2203	4300	6503	SO:0001583	missense	0			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.409G>A	1.37:g.203134456G>A	ENSP00000356205:p.Val137Met		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt	p.V137M	ENST00000367236.4	37	c.409	CCDS1434.1	1	.	.	.	.	.	.	.	.	.	.	G	8.924	0.961752	0.18583	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.39997	1.05;1.05;1.05	5.05	2.93	0.34026	GPCR, rhodopsin-like superfamily (1);	0.321514	0.33650	N	0.004695	T	0.46483	0.1395	L	0.41906	1.305	0.34923	D	0.748608	D;D;B	0.56968	0.967;0.978;0.027	P;P;B	0.54100	0.563;0.742;0.042	T	0.63594	-0.6602	10	0.72032	D	0.01	-15.449	13.9409	0.64054	0.0:0.594:0.406:0.0	.	170;69;137	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	M	137	ENSP00000308549:V137M;ENSP00000356205:V137M;ENSP00000338435:V137M	ENSP00000308549:V137M	V	+	1	0	ADORA1	201401079	0.627000	0.27129	0.897000	0.35233	0.249000	0.25844	1.171000	0.31896	1.226000	0.43582	0.462000	0.41574	GTG	ADORA1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000163485		0.647	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	-	0.00	60	0	G	NM_000674		203134456	+1	tier1	-	no_errors	ENST00000309502	ensembl	human	known	74_37	missense	29.73	52	22	SNP	0.991	A
ADRA2A	150	genome.wustl.edu	37	10	112837856	112837856	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:112837856delG	ENST00000280155.2	+	1	1067	c.102delG	c.(100-102)ccgfs	p.P34fs		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	19					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.G22fs*>430(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCGAggcgccggggggcggcg	0.726																																					Esophageal Squamous(173;605 2658 7278 49362)												1	Insertion - Frameshift(1)	large_intestine(1)								15,4101		0,15,2043	8.0	9.0	9.0			3.7	1.0	10		8	36,7974		1,34,3970	no	frameshift	ADRA2A	NM_000681.3		1,49,6013	A1A1,A1R,RR		0.4494,0.3644,0.4206			112837856	51,12075	2149	4208	6357	SO:0001589	frameshift_variant	0			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.102delG	10.37:g.112837856delG	ENSP00000280155:p.Pro34fs		B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt	p.G36fs	ENST00000280155.2	37	c.102	CCDS7569.2	10																																																																																			ADRA2A	-	prints_ADRA2A_rcpt	ENSG00000150594		0.726	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2		0.00	27	0	G	NM_000681		112837856	+1	tier1		no_errors	ENST00000280155	ensembl	human	known	74_37	frame_shift_del	34.78	15	8	DEL	0.354	-
ADRBK1	156	genome.wustl.edu	37	11	67051717	67051717	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:67051717delC	ENST00000308595.5	+	18	1817	c.1527delC	c.(1525-1527)ttcfs	p.F509fs	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	509	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACCGCAACTTCCCCCTCACCA	0.587																																																	0													109.0	92.0	98.0					11																	67051717		2200	4295	6495	SO:0001589	frameshift_variant	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1527delC	11.37:g.67051717delC	ENSP00000312262:p.Phe509fs		B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.L511fs	ENST00000308595.5	37	c.1527	CCDS8156.1	11																																																																																			ADRBK1	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase	ENSG00000173020		0.587	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1		0.00	44	0	C	NM_001619		67051717	+1	tier1		no_errors	ENST00000308595	ensembl	human	known	74_37	frame_shift_del	25.00	36	12	DEL	1.000	-
ADTRP	84830	genome.wustl.edu	37	6	11778984	11778984	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:11778984C>A	ENST00000414691.3	-	1	419	c.9G>T	c.(7-9)aaG>aaT	p.K3N	ADTRP_ENST00000229583.5_Missense_Mutation_p.K3N|ADTRP_ENST00000379413.2_Missense_Mutation_p.K3N	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											ATGTAGAAGTCTTCGTCATGG	0.488																																																	0													149.0	134.0	139.0					6																	11778984		2203	4300	6503	SO:0001583	missense	0			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.9G>T	6.37:g.11778984C>A	ENSP00000404416:p.Lys3Asn		B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	pfam_Far-17a_AIG1	p.K3N	ENST00000414691.3	37	c.9	CCDS4521.1	6	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566929	0.45694	.	.	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000379413;ENST00000379415;ENST00000506810	T;T;T;T;T	0.51071	1.32;1.17;1.25;0.72;0.73	5.83	0.589	0.17452	.	1.079470	0.06925	N	0.810032	T	0.17534	0.0421	L	0.47716	1.5	0.09310	N	1	P;P	0.38767	0.646;0.454	B;B	0.41571	0.36;0.15	T	0.16778	-1.0391	10	0.17832	T	0.49	-9.2979	0.8081	0.01088	0.1608:0.355:0.1561:0.3282	.	3;3	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	N	3	ENSP00000404416:K3N;ENSP00000229583:K3N;ENSP00000368723:K3N;ENSP00000368726:K3N;ENSP00000422927:K3N	ENSP00000229583:K3N	K	-	3	2	C6orf105	11886970	0.000000	0.05858	0.009000	0.14445	0.261000	0.26267	0.188000	0.17018	0.794000	0.33899	0.491000	0.48974	AAG	ADTRP	-	NULL	ENSG00000111863		0.488	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADTRP	HGNC	protein_coding	OTTHUMT00000039864.3	-	0.00	27	0	C	NM_032744		11778984	-1	tier1	-	no_errors	ENST00000379413	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.000	A
AFAP1	60312	genome.wustl.edu	37	4	7776485	7776485	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:7776485C>T	ENST00000360265.4	-	13	2025	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A	AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_Silent_p.A597A|AFAP1_ENST00000420658.1_Silent_p.A681A|AFAP1_ENST00000382543.3_Silent_p.A681A			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	597	Interaction with F-actin. {ECO:0000250}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTTCAATAGCCGCTCGAAGGT	0.542																																																	0													63.0	64.0	63.0					4																	7776485		2203	4300	6503	SO:0001819	synonymous_variant	0			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1791G>A	4.37:g.7776485C>T			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A681	ENST00000360265.4	37	c.2043	CCDS3397.1	4																																																																																			AFAP1	-	NULL	ENSG00000196526		0.542	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	-	0.00	79	0	C	NM_021638		7776485	-1	tier1	-	no_errors	ENST00000420658	ensembl	human	known	74_37	silent	8.22	67	6	SNP	0.000	T
AFAP1L1	134265	genome.wustl.edu	37	5	148712387	148712387	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:148712387C>T	ENST00000296721.4	+	17	2203	c.2105C>T	c.(2104-2106)gCa>gTa	p.A702V	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.A702V	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	702						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCCCTGGCAGGAGGGCCA	0.652																																																	0													22.0	23.0	22.0					5																	148712387		2203	4299	6502	SO:0001583	missense	0			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.2105C>T	5.37:g.148712387C>T	ENSP00000296721:p.Ala702Val		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A702V	ENST00000296721.4	37	c.2105	CCDS34274.1	5	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360390	0.82353	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.21932	2.19;1.98	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.75484	0.986;0.985	T	0.49925	-0.8887	10	0.87932	D	0	-14.6007	19.3681	0.94473	0.0:1.0:0.0:0.0	.	702;702	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	V	702	ENSP00000296721:A702V;ENSP00000424427:A702V	ENSP00000296721:A702V	A	+	2	0	AFAP1L1	148692580	1.000000	0.71417	0.963000	0.40424	0.310000	0.27922	6.695000	0.74593	2.677000	0.91161	0.655000	0.94253	GCA	AFAP1L1	-	NULL	ENSG00000157510		0.652	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1	-	0.00	37	0	C	NM_152406		148712387	+1	tier1	-	no_errors	ENST00000296721	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.999	T
AFAP1L2	84632	genome.wustl.edu	37	10	116054776	116054779	+	3'UTR	DEL	AAAA	AAAA	-	rs550504274	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:116054776_116054779delAAAA	ENST00000304129.4	-	0	3508_3511				AFAP1L2_ENST00000369271.3_3'UTR|AFAP1L2_ENST00000491814.1_5'UTR			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2						inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AACCTGTGttaaaaaaaaaaaaaa	0.382																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.*1025TTTT>-	10.37:g.116054784_116054787delAAAA			A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	RNA	DEL	-	NULL	ENST00000304129.4	37	NULL	CCDS31286.1	10																																																																																			AFAP1L2	-	-	ENSG00000169129		0.382	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1		0.00	101	0	AAAA	NM_032550		116054779	-1	tier1		no_errors	ENST00000491814	ensembl	human	known	74_37	rna	5.33	71	4	DEL	0.000:0.000:0.000:0.008	-
AFF2	2334	genome.wustl.edu	37	X	148069012	148069012	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:148069012G>A	ENST00000370460.2	+	20	4218	c.3739G>A	c.(3739-3741)Gtc>Atc	p.V1247I	AFF2_ENST00000342251.3_Missense_Mutation_p.V1214I|AFF2_ENST00000370457.5_Missense_Mutation_p.V1212I|AFF2_ENST00000286437.5_Missense_Mutation_p.V888I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1247					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGCCACGTCAACATCAC	0.498																																																	0													206.0	160.0	175.0					X																	148069012		2203	4300	6503	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3739G>A	X.37:g.148069012G>A	ENSP00000359489:p.Val1247Ile		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.V1247I	ENST00000370460.2	37	c.3739	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876190	0.91664	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	D	0.87881	0.6289	M	0.85859	2.78	0.54753	D	0.99998	P;D;D;D;D;D	0.76494	0.776;0.991;0.99;0.999;0.999;0.999	P;D;D;D;D;D	0.74348	0.613;0.983;0.937;0.924;0.924;0.954	D	0.88319	0.2961	10	0.49607	T	0.09	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	888;1212;1212;1208;1237;1247	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	I	1247;1212;1214;888	ENSP00000359489:V1247I;ENSP00000359486:V1212I;ENSP00000345459:V1214I;ENSP00000286437:V888I	ENSP00000286437:V888I	V	+	1	0	AFF2	147876718	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	6.533000	0.73829	2.423000	0.82170	0.600000	0.82982	GTC	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.498	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0.00	47	0	G	NM_002025		148069012	+1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	A
AFF3	3899	genome.wustl.edu	37	2	100209760	100209760	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:100209760A>G	ENST00000409236.2	-	13	2475	c.2363T>C	c.(2362-2364)gTa>gCa	p.V788A	AFF3_ENST00000356421.2_Missense_Mutation_p.V813A|AFF3_ENST00000317233.4_Missense_Mutation_p.V788A|AFF3_ENST00000409579.1_Missense_Mutation_p.V813A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	788					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGCGCTCAATACCCCTGGCTC	0.582																																																	0													60.0	62.0	61.0					2																	100209760		2203	4300	6503	SO:0001583	missense	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2363T>C	2.37:g.100209760A>G	ENSP00000387207:p.Val788Ala		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.V813A	ENST00000409236.2	37	c.2438	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	A	0.061	-1.224760	0.01530	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.5	2.79	0.32731	.	0.658159	0.13874	N	0.356784	T	0.39384	0.1076	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12630	0.001;0.006;0.0	B;B;B	0.18871	0.005;0.023;0.0	T	0.19128	-1.0315	10	0.07644	T	0.81	.	9.5444	0.39271	0.782:0.0:0.218:0.0	.	941;788;813	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	A	788;813;813;788;788;941	ENSP00000317421:V788A;ENSP00000348793:V813A;ENSP00000386834:V813A;ENSP00000387207:V788A	ENSP00000317421:V788A	V	-	2	0	AFF3	99576192	0.052000	0.20516	0.033000	0.17914	0.346000	0.29079	2.302000	0.43637	0.930000	0.37217	0.459000	0.35465	GTA	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.582	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0.00	55	0	A	NM_002285		100209760	-1			no_errors	ENST00000356421	ensembl	human	known	74_37	missense	6.45	57	4	SNP	0.000	G
AFG3L2	10939	genome.wustl.edu	37	18	12329672	12329672	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:12329672G>A	ENST00000269143.3	-	17	2517	c.2286C>T	c.(2284-2286)ggC>ggT	p.G762G	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_3'UTR	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	762					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCTGCCAGTGCCTTCCACAA	0.458																																																	0													96.0	98.0	98.0					18																	12329672		2203	4300	6503	SO:0001819	synonymous_variant	0			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.2286C>T	18.37:g.12329672G>A			Q6P1L0	Silent	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.G762	ENST00000269143.3	37	c.2286	CCDS11859.1	18																																																																																			AFG3L2	-	NULL	ENSG00000141385		0.458	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	-	0.00	58	0	G	NM_006796		12329672	-1	tier1	-	no_errors	ENST00000269143	ensembl	human	known	74_37	silent	8.47	54	5	SNP	1.000	A
AGA	175	genome.wustl.edu	37	4	178355571	178355571	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:178355571A>G	ENST00000264595.2	-	7	898	c.771T>C	c.(769-771)acT>acC	p.T257T	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	257	Substrate binding.		T -> I (in AGU). {ECO:0000269|PubMed:11309371}.		protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CACCATTCCCAGTGGCTGCGG	0.448																																																	0													117.0	115.0	116.0					4																	178355571		2203	4300	6503	SO:0001819	synonymous_variant	0			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.771T>C	4.37:g.178355571A>G			B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Silent	SNP	pfam_Peptidase_T2	p.T257	ENST00000264595.2	37	c.771	CCDS3829.1	4																																																																																			AGA	-	pfam_Peptidase_T2	ENSG00000038002		0.448	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGA	HGNC	protein_coding	OTTHUMT00000361916.1	-	0.00	42	0	A	NM_000027		178355571	-1	tier1	-	no_errors	ENST00000264595	ensembl	human	known	74_37	silent	25.76	49	17	SNP	0.248	G
AGBL3	340351	genome.wustl.edu	37	7	134678279	134678280	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:134678279_134678280delAC	ENST00000436302.2	+	4	413_414	c.160_161delAC	c.(160-162)acafs	p.T54fs	AGBL3_ENST00000359383.3_Frame_Shift_Del_p.T54fs|AGBL3_ENST00000494702.2_3'UTR|AGBL3_ENST00000458078.1_Frame_Shift_Del_p.T28fs|AGBL3_ENST00000435976.2_Frame_Shift_Del_p.T54fs	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	54						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						CCCCCGGACTACACAGATACTA	0.426																																																	0																																										SO:0001589	frameshift_variant	0			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.160_161delAC	7.37:g.134678281_134678282delAC	ENSP00000388275:p.Thr54fs		B7Z827|Q9H965	Frame_Shift_Del	DEL	pfam_Peptidase_M14	p.Q29fs	ENST00000436302.2	37	c.82_83	CCDS47718.1	7																																																																																			AGBL3	-	NULL	ENSG00000146856		0.426	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1		0.00	65	0	AC	NM_178563		134678280	+1	tier1		no_errors	ENST00000458078	ensembl	human	known	74_37	frame_shift_del	13.85	56	9	DEL	0.991:0.999	-
AGXT	189	genome.wustl.edu	37	2	241817492	241817492	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:241817492G>T	ENST00000307503.3	+	10	1383	c.996G>T	c.(994-996)tgG>tgT	p.W332C		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	332					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GCTATGACTGGAGAGACATCG	0.637																																																	0													51.0	46.0	48.0					2																	241817492		2203	4300	6503	SO:0001583	missense	0			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.996G>T	2.37:g.241817492G>T	ENSP00000302620:p.Trp332Cys		Q53QU6	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	p.W332C	ENST00000307503.3	37	c.996	CCDS2543.1	2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494153	0.44352	.	.	ENSG00000172482	ENST00000307503	D	0.93133	-3.17	4.23	4.23	0.50019	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.96411	0.8829	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96428	0.9317	10	0.49607	T	0.09	-18.6489	15.1794	0.72941	0.0:0.0:1.0:0.0	.	210;332	Q9UJX1;P21549	.;SPYA_HUMAN	C	332	ENSP00000302620:W332C	ENSP00000302620:W332C	W	+	3	0	AGXT	241466165	1.000000	0.71417	0.993000	0.49108	0.083000	0.17756	6.907000	0.75724	2.061000	0.61500	0.563000	0.77884	TGG	AGXT	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	ENSG00000172482		0.637	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT	HGNC	protein_coding	OTTHUMT00000257186.1	-	0.00	74	0	G	NM_000030		241817492	+1	tier1	-	no_errors	ENST00000307503	ensembl	human	known	74_37	missense	17.86	46	10	SNP	1.000	T
AHCTF1	25909	genome.wustl.edu	37	1	247002901	247002901	+	3'UTR	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:247002901T>G	ENST00000391829.2	-	0	8131				AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_3'UTR|AHCTF1_ENST00000366508.1_3'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1						cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCACCAATTTCTCATTATCT	0.388																																					Colon(145;197 1800 4745 15099 26333)												0																																										SO:0001624	3_prime_UTR_variant	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.*1207A>C	1.37:g.247002901T>G			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	RNA	SNP	-	NULL	ENST00000391829.2	37	NULL		1																																																																																			AHCTF1	-	-	ENSG00000153207		0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	0.00	26	0	T	NM_015446		247002901	-1	tier1	-	no_errors	ENST00000470300	ensembl	human	known	74_37	rna	13.33	26	4	SNP	0.005	G
AHNAK2	113146	genome.wustl.edu	37	14	105420232	105420232	+	Missense_Mutation	SNP	G	G	A	rs370578594		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105420232G>A	ENST00000333244.5	-	7	1675	c.1556C>T	c.(1555-1557)gCg>gTg	p.A519V	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	519						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTTGAGGACGCATCCTGTCT	0.537																																																	0								G	VAL/ALA	1,3975		0,1,1987	93.0	98.0	96.0		1556	-5.6	0.0	14		96	0,8284		0,0,4142	no	missense	AHNAK2	NM_138420.2	64	0,1,6129	AA,AG,GG		0.0,0.0252,0.0082	benign	519/5796	105420232	1,12259	1988	4142	6130	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1556C>T	14.37:g.105420232G>A	ENSP00000353114:p.Ala519Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A519V	ENST00000333244.5	37	c.1556	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	g	10.03	1.240107	0.22711	2.52E-4	0.0	ENSG00000185567	ENST00000333244	T	0.02552	4.25	3.1	-5.55	0.02536	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.47394	-0.9121	9	0.31617	T	0.26	.	1.1087	0.01700	0.2732:0.1501:0.3591:0.2175	.	519	Q8IVF2	AHNK2_HUMAN	V	519	ENSP00000353114:A519V	ENSP00000353114:A519V	A	-	2	0	AHNAK2	104491277	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.123000	0.00290	-0.797000	0.04450	-0.340000	0.08031	GCG	AHNAK2	-	NULL	ENSG00000185567		0.537	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0.00	82	0	G	NM_138420		105420232	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.000	A
AICDA	57379	genome.wustl.edu	37	12	8756903	8756903	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:8756903C>T	ENST00000229335.6	-	5	677	c.574G>A	c.(574-576)Gca>Aca	p.A192T	AICDA_ENST00000537228.1_Missense_Mutation_p.A182T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	192	Nuclear export signal.				B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTACGAAATGCGTCTCGTAAG	0.463																																					GBM(62;896 1067 5527 26594 30137)												0													96.0	92.0	93.0					12																	8756903		1898	4112	6010	SO:0001583	missense	0			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.574G>A	12.37:g.8756903C>T	ENSP00000229335:p.Ala192Thr		Q6QJ81|Q8NFC1	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.A192T	ENST00000229335.6	37	c.574	CCDS41747.1	12	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740782	0.69304	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.66815	-0.06;-0.23	5.11	5.11	0.69529	.	0.107204	0.64402	D	0.000006	T	0.52613	0.1745	L	0.38531	1.155	0.49299	D	0.999773	P;P	0.44659	0.84;0.672	B;B	0.31390	0.129;0.091	T	0.61667	-0.7016	10	0.56958	D	0.05	-10.5451	15.2812	0.73787	0.0:1.0:0.0:0.0	.	192;182	Q9GZX7;Q6QJ81	AICDA_HUMAN;.	T	192;182	ENSP00000229335:A192T;ENSP00000445691:A182T	ENSP00000229335:A192T	A	-	1	0	AICDA	8648170	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.876000	0.63079	2.386000	0.81285	0.650000	0.86243	GCA	AICDA	-	NULL	ENSG00000111732		0.463	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AICDA	HGNC	protein_coding	OTTHUMT00000400575.1	-	0.00	33	0	C	NM_020661		8756903	-1	tier1	-	no_errors	ENST00000229335	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	T
AICDA	57379	genome.wustl.edu	37	12	8757882	8757882	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:8757882C>T	ENST00000229335.6	-	3	459	c.356G>A	c.(355-357)cGc>cAc	p.R119H	AICDA_ENST00000537228.1_Missense_Mutation_p.R119H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	119				R -> H (in Ref. 3; AAM95406). {ECO:0000305}.	B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CTCAGCCTTGCGGTCCTCACA	0.647																																					GBM(62;896 1067 5527 26594 30137)												0													26.0	28.0	27.0					12																	8757882		1921	4121	6042	SO:0001583	missense	0			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.356G>A	12.37:g.8757882C>T	ENSP00000229335:p.Arg119His		Q6QJ81|Q8NFC1	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R119H	ENST00000229335.6	37	c.356	CCDS41747.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.14|11.14	1.550683|1.550683	0.27739|0.27739	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000543081;ENST00000545512|ENST00000229335;ENST00000537228	.|T;T	.|0.67865	.|-0.29;-0.29	5.29|5.29	-3.27|-3.27	0.05048|0.05048	.|Cytidine deaminase-like (1);	.|0.729010	.|0.14471	.|N	.|0.317600	T|T	0.48150|0.48150	0.1484|0.1484	L|L	0.60067|0.60067	1.865|1.865	0.26348|0.26348	N|N	0.97725|0.97725	.|B;P;B	.|0.40282	.|0.404;0.711;0.404	.|B;B;B	.|0.31442	.|0.082;0.13;0.082	T|T	0.41466|0.41466	-0.9507|-0.9507	5|10	.|0.25106	.|T	.|0.35	0.0026|0.0026	5.5388|5.5388	0.17026|0.17026	0.2081:0.4383:0.0:0.3536|0.2081:0.4383:0.0:0.3536	.|.	.|119;119;119	.|Q9GZX7;Q6QJ80;Q6QJ81	.|AICDA_HUMAN;.;.	T|H	118|119	.|ENSP00000229335:R119H;ENSP00000445691:R119H	.|ENSP00000229335:R119H	A|R	-|-	1|2	0|0	AICDA|AICDA	8649149|8649149	0.950000|0.950000	0.32346|0.32346	0.080000|0.080000	0.20451|0.20451	0.831000|0.831000	0.47069|0.47069	0.601000|0.601000	0.24119|0.24119	-0.554000|-0.554000	0.06150|0.06150	0.561000|0.561000	0.74099|0.74099	GCA|CGC	AICDA	-	superfamily_Cytidine_deaminase-like	ENSG00000111732		0.647	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AICDA	HGNC	protein_coding	OTTHUMT00000400575.1	-	0.00	41	0	C	NM_020661		8757882	-1	tier1	-	no_errors	ENST00000229335	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.082	T
AIFM2	84883	genome.wustl.edu	37	10	71880273	71880273	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:71880273G>A	ENST00000307864.1	-	5	710	c.497C>T	c.(496-498)cCt>cTt	p.P166L	AIFM2_ENST00000482166.1_5'Flank|AIFM2_ENST00000373248.1_Missense_Mutation_p.P166L	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	166					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CTCTTTCTCAGGATATTCTGT	0.517																																																	0													205.0	196.0	199.0					10																	71880273		2203	4300	6503	SO:0001583	missense	0			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.497C>T	10.37:g.71880273G>A	ENSP00000312370:p.Pro166Leu		B3KXI0|Q63Z39	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like	p.P166L	ENST00000307864.1	37	c.497	CCDS7297.1	10	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891839	0.72524	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.45668	0.89;0.89	5.05	4.15	0.48705	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.105878	0.64402	D	0.000003	T	0.64494	0.2603	M	0.82923	2.615	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	T	0.68383	-0.5423	10	0.46703	T	0.11	-18.5295	13.3568	0.60633	0.0769:0.0:0.9231:0.0	.	166	Q9BRQ8	AIFM2_HUMAN	L	166;166;126	ENSP00000362345:P166L;ENSP00000312370:P166L	ENSP00000312370:P166L	P	-	2	0	AIFM2	71550279	1.000000	0.71417	0.139000	0.22197	0.991000	0.79684	6.942000	0.75928	1.371000	0.46172	0.655000	0.94253	CCT	AIFM2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom	ENSG00000042286		0.517	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM2	HGNC	protein_coding	OTTHUMT00000048487.1	-	0.00	43	0	G	NM_032797		71880273	-1	tier1	-	no_errors	ENST00000307864	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.988	A
AIM2	9447	genome.wustl.edu	37	1	159032487	159032487	+	Frame_Shift_Del	DEL	T	T	-	rs531843702	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:159032487delT	ENST00000368130.4	-	6	1315	c.1027delA	c.(1027-1029)acafs	p.T343fs		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	343					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTCTCTATGTTTTTTTTTTG	0.398														28	0.00559105	0.0076	0.0043	5008	,	,		19188	0.002		0.003	False		,,,				2504	0.0102																0										77,102,4087		0,0,77,0,102,1954	174.0	138.0	150.0			-1.5	0.0	1		158	80,228,7946		0,0,80,0,228,3819	no	codingComplex	AIM2	NM_004833.1		0,0,157,0,330,5773	A1A1,A1A2,A1R,A2A2,A2R,RR		3.7315,4.196,3.8898			159032487	157,330,12033	2203	4300	6503	SO:0001589	frameshift_variant	0			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.1027delA	1.37:g.159032487delT	ENSP00000357112:p.Thr343fs		A8K7M7|Q5T3V9|Q96FG9	Frame_Shift_Del	DEL	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x	p.T343fs	ENST00000368130.4	37	c.1027	CCDS1181.1	1																																																																																			AIM2	-	NULL	ENSG00000163568		0.398	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM2	HGNC	protein_coding	OTTHUMT00000090341.1		0.00	58	0	T	NM_004833		159032487	-1	tier1		no_errors	ENST00000368130	ensembl	human	known	74_37	frame_shift_del	54.17	22	26	DEL	0.001	-
AK9	221264	genome.wustl.edu	37	6	109830572	109830572	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:109830572delT	ENST00000424296.2	-	33	4367	c.4291delA	c.(4291-4293)attfs	p.I1431fs	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1431	Adenylate kinase 3.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TCACTTGTAATTTTTTTGGCA	0.328																																																	0													91.0	74.0	79.0					6																	109830572		692	1591	2283	SO:0001589	frameshift_variant	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.4291delA	6.37:g.109830572delT	ENSP00000410186:p.Ile1431fs		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I1431fs	ENST00000424296.2	37	c.4291	CCDS55048.1	6																																																																																			AK9	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000155085		0.328	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding			0.00	37	0	T	NM_001145128		109830572	-1	tier1		no_errors	ENST00000424296	ensembl	human	known	74_37	frame_shift_del	25.00	21	7	DEL	0.005	-
AK9	221264	genome.wustl.edu	37	6	109906340	109906343	+	Frame_Shift_Del	DEL	TTCT	TTCT	-	rs200236581|rs55642342|rs78047280		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTCT	TTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:109906340_109906343delTTCT	ENST00000424296.2	-	19	2173_2176	c.2097_2100delAGAA	c.(2095-2100)aaagaafs	p.KE699fs	AK9_ENST00000368948.2_Frame_Shift_Del_p.KE699fs|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	699					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CTTCTTCTTCTTCTTTTTTTTTCT	0.24																																																	0																																										SO:0001589	frameshift_variant	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.2097_2100delAGAA	6.37:g.109906340_109906343delTTCT	ENSP00000410186:p.Lys699fs		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E700fs	ENST00000424296.2	37	c.2100_2097	CCDS55048.1	6																																																																																			AK9	-	superfamily_P-loop_NTPase	ENSG00000155085		0.240	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding			0.00	88	0	TTCT	NM_001145128		109906343	-1	tier1		no_errors	ENST00000424296	ensembl	human	known	74_37	frame_shift_del	12.50	63	9	DEL	0.824:0.825:0.777:0.437	-
AKAP13	11214	genome.wustl.edu	37	15	86122542	86122542	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:86122542C>A	ENST00000394518.2	+	7	1338	c.1243C>A	c.(1243-1245)Ctt>Att	p.L415I	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.L415I	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	415					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CACGGAAGGCCTTTCGTCCTG	0.507																																					Melanoma(94;603 1453 3280 32295 32951)												0													73.0	79.0	77.0					15																	86122542		2202	4299	6501	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1243C>A	15.37:g.86122542C>A	ENSP00000378026:p.Leu415Ile		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.L415I	ENST00000394518.2	37	c.1243	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	9.747	1.166436	0.21621	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.14516	2.53;2.5	5.45	0.0569	0.14321	.	.	.	.	.	T	0.08670	0.0215	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.21147	0.031;0.052	B;B	0.18871	0.01;0.023	T	0.31641	-0.9936	9	0.54805	T	0.06	.	6.3404	0.21319	0.0:0.5072:0.2463:0.2464	.	415;415	Q12802;Q12802-2	AKP13_HUMAN;.	I	415;415;414;414	ENSP00000354718:L415I;ENSP00000378026:L415I	ENSP00000354718:L415I	L	+	1	0	AKAP13	83923546	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.111000	0.10807	-0.425000	0.07371	-1.886000	0.00541	CTT	AKAP13	-	NULL	ENSG00000170776		0.507	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0.00	30	0	C	NM_007200		86122542	+1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	23.26	33	10	SNP	0.000	A
AKAP13	11214	genome.wustl.edu	37	15	86278265	86278265	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:86278265C>T	ENST00000394518.2	+	31	7420	c.7325C>T	c.(7324-7326)aCa>aTa	p.T2442I	AKAP13_ENST00000394510.2_Missense_Mutation_p.T687I|AKAP13_ENST00000361243.2_Missense_Mutation_p.T2446I|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2442	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTGGGAGGCACACTTGGGCCG	0.517																																					Melanoma(94;603 1453 3280 32295 32951)												0													231.0	238.0	235.0					15																	86278265		2202	4299	6501	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7325C>T	15.37:g.86278265C>T	ENSP00000378026:p.Thr2442Ile		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.T2446I	ENST00000394518.2	37	c.7337	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836565	0.32421	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.27256	2.74;2.75;1.68	5.77	3.89	0.44902	.	.	.	.	.	T	0.26593	0.0650	L	0.55481	1.735	0.09310	N	1	P;P	0.41848	0.651;0.763	B;B	0.42422	0.216;0.387	T	0.14531	-1.0469	9	0.54805	T	0.06	.	6.8865	0.24206	0.0:0.7022:0.1452:0.1526	.	2442;2446	Q12802;Q12802-2	AKP13_HUMAN;.	I	2446;2442;2445;2421;687	ENSP00000354718:T2446I;ENSP00000378026:T2442I;ENSP00000378018:T687I	ENSP00000354718:T2446I	T	+	2	0	AKAP13	84079269	0.000000	0.05858	0.041000	0.18516	0.656000	0.38851	0.390000	0.20768	1.439000	0.47511	0.467000	0.42956	ACA	AKAP13	-	NULL	ENSG00000170776		0.517	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0.00	38	0	C	NM_007200		86278265	+1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.000	T
AKAP13	11214	genome.wustl.edu	37	15	86284337	86284337	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:86284337G>A	ENST00000394518.2	+	35	7764	c.7669G>A	c.(7669-7671)Gcg>Acg	p.A2557T	AKAP13_ENST00000394510.2_Missense_Mutation_p.A802T|AKAP13_ENST00000361243.2_Missense_Mutation_p.A2561T|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2557	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGCGAGAGGGCGCTCACTCG	0.637																																					Melanoma(94;603 1453 3280 32295 32951)												0													47.0	47.0	47.0					15																	86284337		2202	4299	6501	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7669G>A	15.37:g.86284337G>A	ENSP00000378026:p.Ala2557Thr		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.A2561T	ENST00000394518.2	37	c.7681	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283733	0.23392	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.21932	1.98;1.98;2.99	5.19	2.26	0.28386	.	.	.	.	.	T	0.14356	0.0347	L	0.27053	0.805	0.29474	N	0.856809	B;B	0.15141	0.007;0.012	B;B	0.16722	0.007;0.016	T	0.17592	-1.0364	9	0.44086	T	0.13	.	7.5831	0.27976	0.1526:0.1472:0.7002:0.0	.	2557;2561	Q12802;Q12802-2	AKP13_HUMAN;.	T	2561;2557;2560;2536;802	ENSP00000354718:A2561T;ENSP00000378026:A2557T;ENSP00000378018:A802T	ENSP00000354718:A2561T	A	+	1	0	AKAP13	84085341	0.992000	0.36948	0.001000	0.08648	0.101000	0.19017	1.914000	0.39966	0.193000	0.20303	-0.136000	0.14681	GCG	AKAP13	-	NULL	ENSG00000170776		0.637	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1		0.00	69	0	G	NM_007200		86284337	+1			no_errors	ENST00000361243	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.824	A
AKAP6	9472	genome.wustl.edu	37	14	33293133	33293133	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:33293133T>C	ENST00000280979.4	+	13	6284	c.6114T>C	c.(6112-6114)tgT>tgC	p.C2038C	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2038					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACATTTCCTGTTGCAACTGTG	0.428																																					Melanoma(49;821 1200 7288 13647 42351)												0													83.0	79.0	80.0					14																	33293133		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6114T>C	14.37:g.33293133T>C			A7E242|A7E2D4|O15028	Silent	SNP	smart_Spectrin/alpha-actinin	p.C2038	ENST00000280979.4	37	c.6114	CCDS9644.1	14																																																																																			AKAP6	-	NULL	ENSG00000151320		0.428	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	-	0.00	25	0	T	NM_004274		33293133	+1	tier1	-	no_errors	ENST00000280979	ensembl	human	known	74_37	silent	17.86	23	5	SNP	1.000	C
AKAP7	9465	genome.wustl.edu	37	6	131481276	131481276	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:131481276delA	ENST00000431975.2	+	3	327	c.229delA	c.(229-231)aaafs	p.K79fs	AKAP7_ENST00000368123.4_Frame_Shift_Del_p.K57fs|AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Frame_Shift_Del_p.K78fs	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	79						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AAAGAAGAGGAAAAAAAAGAG	0.308																																																	0													51.0	51.0	51.0					6																	131481276		2203	4293	6496	SO:0001589	frameshift_variant	0			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.229delA	6.37:g.131481276delA	ENSP00000405252:p.Lys79fs		B4DUC3|Q9HCZ8	Frame_Shift_Del	DEL	pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase	p.K57fs	ENST00000431975.2	37	c.163	CCDS5142.2	6																																																																																			AKAP7	-	pfam_Kinase-A_anchor_nucl_local_sig	ENSG00000118507		0.308	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AKAP7	HGNC	protein_coding	OTTHUMT00000042209.2		0.00	50	0	A	NM_004842		131481276	+1	tier1		no_errors	ENST00000368123	ensembl	human	known	74_37	frame_shift_del	20.00	32	8	DEL	0.449	-
AKAP9	10142	genome.wustl.edu	37	7	91603085	91603085	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:91603085delA	ENST00000359028.2	+	3	370	c.145delA	c.(145-147)aaafs	p.K51fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.K39fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.K51fs|AKAP9_ENST00000394564.1_Frame_Shift_Del_p.K39fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	51					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.K39fs*17(1)|p.K51fs*17(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAAGAAGCAGAAAAAAAAGAG	0.353			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Deletion - Frameshift(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.145delA	7.37:g.91603085delA	ENSP00000351922:p.Lys51fs		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.K51fs	ENST00000359028.2	37	c.145		7																																																																																			AKAP9	-	NULL	ENSG00000127914		0.353	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding			0.00	34	0	A	NM_005751		91603085	+1	tier1		no_errors	ENST00000359028	ensembl	human	known	74_37	frame_shift_del	20.69	23	6	DEL	1.000	-
AKIRIN2	55122	genome.wustl.edu	37	6	88411208	88411208	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:88411208C>A	ENST00000257787.5	-	1	719	c.195G>T	c.(193-195)gaG>gaT	p.E65D	AKIRIN2_ENST00000420494.2_5'UTR	NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	65					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)			large_intestine(4)	4						AGGGGGATGGCTCCATTCGGA	0.741																																																	0													5.0	5.0	5.0					6																	88411208		1678	3119	4797	SO:0001583	missense	0			BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"""chromosome 6 open reading frame 166"""	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.195G>T	6.37:g.88411208C>A	ENSP00000257787:p.Glu65Asp		Q9BQB1	Missense_Mutation	SNP	NULL	p.E65D	ENST00000257787.5	37	c.195	CCDS5013.1	6	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739609	0.69304	.	.	ENSG00000135334	ENST00000257787	T	0.50277	0.75	4.66	3.79	0.43588	.	0.486793	0.22294	N	0.061959	T	0.48642	0.1511	L	0.57536	1.79	0.58432	D	0.999998	D	0.67145	0.996	D	0.76071	0.987	T	0.44205	-0.9343	10	0.19147	T	0.46	-6.0519	12.6419	0.56714	0.0:0.9175:0.0:0.0825	.	65	Q53H80	AKIR2_HUMAN	D	65	ENSP00000257787:E65D	ENSP00000257787:E65D	E	-	3	2	AKIRIN2	88467927	1.000000	0.71417	0.990000	0.47175	0.869000	0.49853	1.524000	0.35942	0.952000	0.37798	-0.671000	0.03813	GAG	AKIRIN2	-	NULL	ENSG00000135334		0.741	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKIRIN2	HGNC	protein_coding	OTTHUMT00000041455.1	-	0.00	12	0	C	NM_018064		88411208	-1	tier1	-	no_errors	ENST00000257787	ensembl	human	known	74_37	missense	40.00	9	6	SNP	1.000	A
ALCAM	214	genome.wustl.edu	37	3	105250904	105250904	+	Frame_Shift_Del	DEL	A	A	-	rs371767685		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:105250904delA	ENST00000306107.5	+	4	953	c.453delA	c.(451-453)ctafs	p.L151fs	ALCAM_ENST00000486979.2_Frame_Shift_Del_p.L100fs|ALCAM_ENST00000389927.4_5'Flank|ALCAM_ENST00000472644.2_Frame_Shift_Del_p.L151fs|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	151	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.L151L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CAGAGCAGCTAAAAAAGGTAA	0.343																																																	1	Substitution - coding silent(1)	lung(1)											125.0	133.0	130.0					3																	105250904		2203	4300	6503	SO:0001589	frameshift_variant	0			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.453delA	3.37:g.105250904delA	ENSP00000305988:p.Leu151fs		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Frame_Shift_Del	DEL	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.K153fs	ENST00000306107.5	37	c.453	CCDS33810.1	3																																																																																			ALCAM	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000170017		0.343	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1		0.00	43	0	A	NM_001627		105250904	+1	tier1		no_errors	ENST00000306107	ensembl	human	known	74_37	frame_shift_del	27.27	24	9	DEL	0.891	-
ALDH16A1	126133	genome.wustl.edu	37	19	49964929	49964929	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49964929G>A	ENST00000293350.4	+	6	794	c.631G>A	c.(631-633)Gcc>Acc	p.A211T	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.A46T|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.A48T|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.A211T	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	211						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCTCCTCCTGGCCCAGCTGGC	0.731																																																	0													8.0	10.0	9.0					19																	49964929		2173	4245	6418	SO:0001583	missense	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.631G>A	19.37:g.49964929G>A	ENSP00000293350:p.Ala211Thr		B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.A211T	ENST00000293350.4	37	c.631	CCDS12766.1	19	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717392	0.68844	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.61	4.61	0.57282	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.102451	0.64402	D	0.000003	D	0.89901	0.6849	M	0.84948	2.725	0.43657	D	0.99607	D;P;D	0.89917	1.0;0.892;1.0	D;P;D	0.91635	0.999;0.724;0.999	D	0.91227	0.5011	10	0.87932	D	0	-17.891	13.7123	0.62675	0.0:0.0:1.0:0.0	.	48;211;211	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	T	211;211;48;46	ENSP00000293350:A211T;ENSP00000410142:A211T;ENSP00000445088:A48T;ENSP00000398675:A46T	ENSP00000293350:A211T	A	+	1	0	ALDH16A1	54656741	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	1.744000	0.38268	2.521000	0.84997	0.585000	0.79938	GCC	ALDH16A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	ENSG00000161618		0.731	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	HGNC	protein_coding	OTTHUMT00000465358.1	-	0.00	68	0	G	NM_153329		49964929	+1	tier1	-	no_errors	ENST00000293350	ensembl	human	known	74_37	missense	8.00	69	6	SNP	1.000	A
ALDH1B1	219	genome.wustl.edu	37	9	38396185	38396185	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:38396185G>A	ENST00000377698.3	+	2	593	c.440G>A	c.(439-441)cGg>cAg	p.R147Q		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	147					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AAGGTGTATCGGTACTTTGCT	0.557																																																	0													115.0	116.0	116.0					9																	38396185		2203	4300	6503	SO:0001583	missense	0			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.440G>A	9.37:g.38396185G>A	ENSP00000366927:p.Arg147Gln		B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.R147Q	ENST00000377698.3	37	c.440	CCDS6615.1	9	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984445	0.74474	.	.	ENSG00000137124	ENST00000377698	T	0.78595	-1.19	5.5	4.61	0.57282	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.56097	D	0.000030	D	0.82751	0.5105	M	0.75447	2.3	0.49798	D	0.999821	D	0.61697	0.99	P	0.53102	0.718	D	0.84677	0.0715	10	0.72032	D	0.01	.	12.1353	0.53968	0.0834:0.0:0.9166:0.0	.	147	P30837	AL1B1_HUMAN	Q	147	ENSP00000366927:R147Q	ENSP00000366927:R147Q	R	+	2	0	ALDH1B1	38386185	1.000000	0.71417	0.988000	0.46212	0.892000	0.51952	7.237000	0.78164	1.340000	0.45581	0.655000	0.94253	CGG	ALDH1B1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000137124		0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1B1	HGNC	protein_coding	OTTHUMT00000052492.1	-	0.00	27	0	G			38396185	+1	tier1	-	no_errors	ENST00000377698	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A
ALDH2	217	genome.wustl.edu	37	12	112229927	112229927	+	Frame_Shift_Del	DEL	G	G	-	rs554937672		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:112229927delG	ENST00000261733.2	+	8	919	c.858delG	c.(856-858)ctgfs	p.L286fs	ALDH2_ENST00000416293.3_Frame_Shift_Del_p.L239fs	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	286					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CCTTGGAGCTGGGGGGGAAGA	0.572			T	HMGA2	leiomyoma																																			Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	2	Insertion - Frameshift(2)	ovary(2)																																								SO:0001589	frameshift_variant	0			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.858delG	12.37:g.112229927delG	ENSP00000261733:p.Leu286fs		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Frame_Shift_Del	DEL	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.K289fs	ENST00000261733.2	37	c.858	CCDS9155.1	12																																																																																			ALDH2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000111275		0.572	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH2	HGNC	protein_coding	OTTHUMT00000405008.1		0.00	68	0	G	NM_000690		112229927	+1	tier1		no_errors	ENST00000261733	ensembl	human	known	74_37	frame_shift_del	15.69	43	8	DEL	0.991	-
ALG11	440138	genome.wustl.edu	37	13	52593151	52593152	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:52593151_52593152insA	ENST00000521508.1	+	2	152_153	c.147_148insA	c.(148-150)aaafs	p.K50fs	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	50					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TACAGAGAAAGAAAAAATTAGT	0.371																																																	0																																										SO:0001589	frameshift_variant	0			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.153dupA	13.37:g.52593157_52593157dupA	ENSP00000430236:p.Lys50fs		A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Frame_Shift_Ins	INS	pfam_Glyco_trans_1	p.L51fs	ENST00000521508.1	37	c.147_148	CCDS31977.1	13																																																																																			ALG11	-	NULL	ENSG00000253710		0.371	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG11	HGNC	protein_coding	OTTHUMT00000045050.1		0.00	74	0	-	NM_001004127		52593152	+1	tier1		no_errors	ENST00000521508	ensembl	human	known	74_37	frame_shift_ins	12.16	65	9	INS	1.000:1.000	A
ALG12	79087	genome.wustl.edu	37	22	50297990	50297991	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:50297990_50297991insG	ENST00000330817.6	-	8	1429_1430	c.1156_1157insC	c.(1156-1158)cagfs	p.Q386fs	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	386					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACCTGTCTGGGGGGGCACC	0.644																																																	0																																										SO:0001589	frameshift_variant	0			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1157dupC	22.37:g.50297997_50297997dupG	ENSP00000333813:p.Gln386fs		A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Frame_Shift_Ins	INS	pfam_GPI_mannosylTrfase	p.Q386fs	ENST00000330817.6	37	c.1157_1156	CCDS14081.1	22																																																																																			ALG12	-	NULL	ENSG00000182858		0.644	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG12	HGNC	protein_coding	OTTHUMT00000317405.2		0.00	84	0	-	NM_024105		50297991	-1	tier1		no_errors	ENST00000330817	ensembl	human	known	74_37	frame_shift_ins	32.39	48	23	INS	0.074:0.002	G
ALK	238	genome.wustl.edu	37	2	29445225	29445225	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:29445225T>G	ENST00000389048.3	-	22	4406	c.3500A>C	c.(3499-3501)gAa>gCa	p.E1167A	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GATCAGGGCTTCCATGAGGAA	0.557			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													85.0	91.0	89.0					2																	29445225		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3500A>C	2.37:g.29445225T>G	ENSP00000373700:p.Glu1167Ala		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1167A	ENST00000389048.3	37	c.3500	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692222	0.88735	.	.	ENSG00000171094	ENST00000389048;ENST00000453137	D;D	0.96587	-4.06;-4.06	5.39	5.39	0.77823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000144	D	0.98720	0.9570	H	0.96239	3.79	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.99744	1.1016	9	.	.	.	.	15.4295	0.75081	0.0:0.0:0.0:1.0	.	1167	Q9UM73	ALK_HUMAN	A	1167;65	ENSP00000373700:E1167A;ENSP00000387488:E65A	.	E	-	2	0	ALK	29298729	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.031000	0.88826	2.049000	0.60858	0.454000	0.30748	GAA	ALK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000171094		0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	-	0.00	42	0	T	NM_004304		29445225	-1	tier1	-	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	21.95	32	9	SNP	1.000	G
ALMS1	7840	genome.wustl.edu	37	2	73677340	73677340	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:73677340C>T	ENST00000264448.6	+	8	3794	c.3683C>T	c.(3682-3684)aCt>aTt	p.T1228I	ALMS1_ENST00000377715.1_Missense_Mutation_p.T1228I|ALMS1_ENST00000409009.1_Missense_Mutation_p.T1186I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1228	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACCAGAAGACTGGGACACCA	0.468																																																	0													96.0	98.0	97.0					2																	73677340		1888	4107	5995	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3683C>T	2.37:g.73677340C>T	ENSP00000264448:p.Thr1228Ile		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.T1228I	ENST00000264448.6	37	c.3683	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907890	0.52333	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14766	3.37;3.37;2.48	4.41	1.5	0.22942	.	1.646820	0.03100	N	0.161010	T	0.28764	0.0713	L	0.46157	1.445	0.09310	N	1	D;D;P	0.89917	0.999;1.0;0.886	D;D;P	0.77004	0.973;0.989;0.612	T	0.06844	-1.0804	10	0.44086	T	0.13	.	4.5175	0.11943	0.0:0.6141:0.1838:0.2021	.	1228;1186;1228	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	1186;1228;1228	ENSP00000386627:T1186I;ENSP00000264448:T1228I;ENSP00000366944:T1228I	ENSP00000264448:T1228I	T	+	2	0	ALMS1	73530848	0.010000	0.17322	0.001000	0.08648	0.571000	0.35966	-0.023000	0.12456	0.324000	0.23333	0.655000	0.94253	ACT	ALMS1	-	NULL	ENSG00000116127		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0.00	36	0	C	NM_015120		73677340	+1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	39.58	29	19	SNP	0.001	T
ALPL	249	genome.wustl.edu	37	1	21894731	21894731	+	Silent	SNP	G	G	A	rs537483743		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:21894731G>A	ENST00000374840.3	+	7	1033	c.783G>A	c.(781-783)ccG>ccA	p.P261P	ALPL_ENST00000539907.1_Silent_p.P184P|ALPL_ENST00000540617.1_Silent_p.P206P|ALPL_ENST00000425315.2_Silent_p.P261P|ALPL_ENST00000374830.1_5'Flank|ALPL_ENST00000374832.1_Silent_p.P261P	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	261					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GCTTCAAACCGAGATACAAGG	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18560	0.0		0.0	False		,,,				2504	0.0																0													74.0	67.0	69.0					1																	21894731		2203	4300	6503	SO:0001819	synonymous_variant	0			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.783G>A	1.37:g.21894731G>A			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Silent	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.P261	ENST00000374840.3	37	c.783	CCDS217.1	1																																																																																			ALPL	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000162551		0.562	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	HGNC	protein_coding	OTTHUMT00000008202.1	-	0.00	52	0	G	NM_000478		21894731	+1	tier1	-	no_errors	ENST00000374832	ensembl	human	known	74_37	silent	24.62	49	16	SNP	0.003	A
ALX4	60529	genome.wustl.edu	37	11	44331253	44331253	+	Silent	SNP	C	C	T	rs199971294	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:44331253C>T	ENST00000329255.3	-	1	463	c.360G>A	c.(358-360)ccG>ccA	p.P120P		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	120					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AGTAAAGATGCGGTTGCGCGG	0.711																																																	0													4.0	5.0	4.0					11																	44331253		1816	3819	5635	SO:0001819	synonymous_variant	0			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.360G>A	11.37:g.44331253C>T			Q96JN7|Q9H198|Q9HAY9	Silent	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.P120	ENST00000329255.3	37	c.360	CCDS31468.1	11																																																																																			ALX4	-	NULL	ENSG00000052850		0.711	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX4	HGNC	protein_coding	OTTHUMT00000390399.1	-	0.00	62	0	C			44331253	-1	tier1	-	no_errors	ENST00000329255	ensembl	human	known	74_37	silent	19.57	37	9	SNP	1.000	T
AMBRA1	55626	genome.wustl.edu	37	11	46564329	46564329	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:46564329C>A	ENST00000458649.2	-	7	1656	c.1238G>T	c.(1237-1239)gGg>gTg	p.G413V	AMBRA1_ENST00000426438.1_Missense_Mutation_p.G413V|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G413V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G413V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G323V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.G323V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G413V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	413					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCCTGTCAACCCAGGAGCTAT	0.602																																																	0													68.0	73.0	71.0					11																	46564329		2201	4299	6500	SO:0001583	missense	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1238G>T	11.37:g.46564329C>A	ENSP00000415327:p.Gly413Val		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G413V	ENST00000458649.2	37	c.1238		11	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936721	0.34189	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.70986	-0.39;-0.53;-0.14;-0.26;-0.14;-0.27;-0.26	5.85	4.92	0.64577	.	0.193133	0.45361	D	0.000367	T	0.60196	0.2250	N	0.24115	0.695	0.80722	D	1	D;B;B;B;B;B	0.56035	0.974;0.069;0.069;0.069;0.328;0.069	P;B;B;B;B;B	0.45913	0.497;0.069;0.069;0.069;0.232;0.069	T	0.64997	-0.6275	10	0.87932	D	0	.	10.1699	0.42904	0.0:0.7918:0.1377:0.0705	.	413;413;413;323;323;323	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	V	323;323;413;413;413;323;413;413	ENSP00000318313:G323V;ENSP00000433372:G323V;ENSP00000431926:G413V;ENSP00000410899:G413V;ENSP00000298834:G413V;ENSP00000415327:G413V;ENSP00000433945:G413V	ENSP00000298834:G413V	G	-	2	0	AMBRA1	46520905	0.998000	0.40836	0.986000	0.45419	0.862000	0.49288	1.558000	0.36309	1.437000	0.47472	0.563000	0.77884	GGG	AMBRA1	-	NULL	ENSG00000110497		0.602	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	-	0.00	20	0	C	NM_017749		46564329	-1	tier1	-	no_errors	ENST00000458649	ensembl	human	known	74_37	missense	34.62	17	9	SNP	1.000	A
AMELX	265	genome.wustl.edu	37	X	11316886	11316886	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:11316886G>A	ENST00000380714.3	+	5	431	c.363G>A	c.(361-363)ccG>ccA	p.P121P	AMELX_ENST00000348912.4_Silent_p.P105P|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000380712.3_Silent_p.P135P|ARHGAP6_ENST00000413512.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	121					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						ACCTCCCTCCGCCCGCCCAGC	0.662																																																	0													90.0	78.0	82.0					X																	11316886		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.363G>A	X.37:g.11316886G>A			Q96NW6|Q9UCA7	Silent	SNP	pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin	p.P135	ENST00000380714.3	37	c.405	CCDS14144.1	X																																																																																			AMELX	-	pfam_Amelogenin,smart_Amelogenin	ENSG00000125363		0.662	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMELX	HGNC	protein_coding	OTTHUMT00000055746.1	-	0.00	208	0	G	NM_001142		11316886	+1	tier1	-	no_errors	ENST00000380712	ensembl	human	known	74_37	silent	20.39	80	21	SNP	0.521	A
AMOTL1	154810	genome.wustl.edu	37	11	94528221	94528221	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:94528221C>A	ENST00000433060.2	+	2	235	c.94C>A	c.(94-96)Cta>Ata	p.L32I	AMOTL1_ENST00000317837.9_Missense_Mutation_p.L32I|AMOTL1_ENST00000317829.8_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	32					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGTCCAGGTTCTAGAAGACTC	0.502																																																	0													136.0	131.0	133.0					11																	94528221		1871	4101	5972	SO:0001583	missense	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.94C>A	11.37:g.94528221C>A	ENSP00000387739:p.Leu32Ile		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.L32I	ENST00000433060.2	37	c.94	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622582	0.28889	.	.	ENSG00000166025	ENST00000299004;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.46451	0.87;0.87;0.87	5.65	4.72	0.59763	.	0.124724	0.35407	N	0.003230	T	0.40040	0.1101	L	0.54323	1.7	0.33830	D	0.630109	B	0.29378	0.243	B	0.23716	0.048	T	0.56269	-0.8007	10	0.87932	D	0	-1.3653	14.9166	0.70801	0.0:0.8573:0.1426:0.0	.	32	Q8IY63	AMOL1_HUMAN	I	61;38;32;32	ENSP00000299004:L61I;ENSP00000323474:L32I;ENSP00000387739:L32I	ENSP00000299004:L61I	L	+	1	2	AMOTL1	94167869	1.000000	0.71417	0.956000	0.39512	0.042000	0.13812	2.143000	0.42187	1.364000	0.46038	0.555000	0.69702	CTA	AMOTL1	-	NULL	ENSG00000166025		0.502	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	-	0.00	66	0	C	NM_130847		94528221	+1	tier1	-	no_errors	ENST00000433060	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	A
AMOTL1	154810	genome.wustl.edu	37	11	94533455	94533455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:94533455delC	ENST00000433060.2	+	3	1240	c.1099delC	c.(1099-1101)cccfs	p.P368fs	AMOTL1_ENST00000317837.9_Frame_Shift_Del_p.P368fs|AMOTL1_ENST00000317829.8_Frame_Shift_Del_p.P318fs	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	368					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GTACCAGCCACCCCCTGAGTA	0.502																																																	0													85.0	85.0	85.0					11																	94533455		1956	4140	6096	SO:0001589	frameshift_variant	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1099delC	11.37:g.94533455delC	ENSP00000387739:p.Pro368fs		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Frame_Shift_Del	DEL	pfam_Angiomotin_C,prints_Angiomotin	p.P368fs	ENST00000433060.2	37	c.1099	CCDS44712.1	11																																																																																			AMOTL1	-	NULL	ENSG00000166025		0.502	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3		0.00	40	0	C	NM_130847		94533455	+1	tier1		no_errors	ENST00000433060	ensembl	human	known	74_37	frame_shift_del	20.51	31	8	DEL	1.000	-
AMY1C	278	genome.wustl.edu	37	1	104297163	104297163	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:104297163G>A	ENST00000370079.3	+	6	985	c.921G>A	c.(919-921)gcG>gcA	p.A307A		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	307					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CTGACAGAGCGCTTGTCTTTG	0.423																																																	0													120.0	115.0	117.0					1																	104297163		2163	4183	6346	SO:0001819	synonymous_variant	0				CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"""amylase, alpha 1C; salivary"""	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.921G>A	1.37:g.104297163G>A			A6NJS5|A8K8H6|Q13763|Q5T083	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.A307	ENST00000370079.3	37	c.921	CCDS30784.1	1																																																																																			AMY1C	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase	ENSG00000187733		0.423	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	HGNC	protein_coding	OTTHUMT00000030375.1	-	0.00	94	0	G	NM_001008219		104297163	+1	tier1	-	no_errors	ENST00000370079	ensembl	human	known	74_37	silent	21.95	64	18	SNP	0.939	A
AMY1C	278	genome.wustl.edu	37	1	104297407	104297407	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:104297407C>T	ENST00000370079.3	+	7	1136	c.1072C>T	c.(1072-1074)Cgt>Tgt	p.R358C		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	358					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		GTCAAGCTACCGTTGGCCAAG	0.323																																																	0													45.0	48.0	47.0					1																	104297407		2159	4187	6346	SO:0001583	missense	0				CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"""amylase, alpha 1C; salivary"""	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.1072C>T	1.37:g.104297407C>T	ENSP00000359096:p.Arg358Cys		A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R358C	ENST00000370079.3	37	c.1072	CCDS30784.1	1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604774	0.28623	.	.	ENSG00000187733	ENST00000370079	.	.	.	2.23	-0.171	0.13331	.	0.055619	0.64402	D	0.000002	T	0.62551	0.2437	M	0.88377	2.95	0.58432	D	0.999999	.	.	.	.	.	.	T	0.63386	-0.6649	7	0.46703	T	0.11	.	6.0118	0.19580	0.1841:0.699:0.0:0.1168	.	.	.	.	C	358	.	ENSP00000359096:R358C	R	+	1	0	AMY1C	104098930	0.699000	0.27786	0.638000	0.29380	0.477000	0.33069	1.535000	0.36061	0.261000	0.21753	0.184000	0.17185	CGT	AMY1C	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000187733		0.323	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	HGNC	protein_coding	OTTHUMT00000030375.1	-	0.00	35	0	C	NM_001008219		104297407	+1	tier1	-	no_errors	ENST00000370079	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.999	T
ANAPC1	64682	genome.wustl.edu	37	2	112614258	112614259	+	Splice_Site	INS	-	-	A	rs4067742		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:112614258_112614259insA	ENST00000341068.3	-	13	2222		c.e13-2			NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTCTATTTTCTAAAAAAACAAA	0.356																																																	0																																										SO:0001630	splice_region_variant	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1450-2->T	2.37:g.112614265_112614265dupA			Q2M3H8|Q9BSE6|Q9H8D0	Splice_Site	INS	-	e12-2	ENST00000341068.3	37	c.1450-3_1450-2	CCDS2093.1	2																																																																																			ANAPC1	-	-	ENSG00000153107		0.356	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2		0.00	177	0	-	NM_022662	Intron	112614259	-1	tier1		no_errors	ENST00000341068	ensembl	human	known	74_37	splice_site_ins	14.55	188	32	INS	0.992:0.087	A
ANAPC1	64682	genome.wustl.edu	37	2	112614257	112614258	+	Splice_Site	INS	-	-	T	rs4067742		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:112614257_112614258insT	ENST00000341068.3	-	13	2222		c.e13-1			NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361																																																	0																																										SO:0001630	splice_region_variant	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1450-1->A	2.37:g.112614258_112614258dupT			Q2M3H8|Q9BSE6|Q9H8D0	Splice_Site	INS	-	e12-1	ENST00000341068.3	37	c.1450-2_1450-1	CCDS2093.1	2																																																																																			ANAPC1	-	-	ENSG00000153107		0.361	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2		0.00	175	0	0	NM_022662	Intron	112614258	-1			no_errors	ENST00000341068	ensembl	human	known	74_37	splice_site_ins	7.62	206	17	INS	0.994:0.992	T
ANGPTL2	23452	genome.wustl.edu	37	9	129870796	129870796	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:129870796T>C	ENST00000373425.3	-	2	832	c.215A>G	c.(214-216)aAc>aGc	p.N72S	RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	72					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTCCTTGGAGTTGACGCAGAT	0.572																																																	0													70.0	58.0	62.0					9																	129870796		2203	4300	6503	SO:0001583	missense	0			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.215A>G	9.37:g.129870796T>C	ENSP00000362524:p.Asn72Ser		Q5JT58|Q8NCH7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.N72S	ENST00000373425.3	37	c.215	CCDS6868.1	9	.	.	.	.	.	.	.	.	.	.	T	6.677	0.493577	0.12702	.	.	ENSG00000136859	ENST00000373425	T	0.37235	1.21	4.78	4.78	0.61160	.	0.096465	0.64402	D	0.000001	T	0.27663	0.0680	L	0.33245	0.995	0.80722	D	1	B	0.22480	0.07	B	0.17722	0.019	T	0.05649	-1.0872	10	0.20046	T	0.44	.	14.3201	0.66479	0.0:0.0:0.0:1.0	.	72	Q9UKU9	ANGL2_HUMAN	S	72	ENSP00000362524:N72S	ENSP00000362524:N72S	N	-	2	0	ANGPTL2	128910617	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.260000	0.72502	1.796000	0.52611	0.482000	0.46254	AAC	ANGPTL2	-	NULL	ENSG00000136859		0.572	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	HGNC	protein_coding	OTTHUMT00000054129.1	-	0.00	31	0	T	NM_012098		129870796	-1	tier1	-	no_errors	ENST00000373425	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C
ANGPTL4	51129	genome.wustl.edu	37	19	8431167	8431167	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:8431167C>T	ENST00000301455.2	+	3	682	c.511C>T	c.(511-513)Cca>Tca	p.P171S	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.P4S|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.P171S	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	171					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GATGGCCCAGCCAGTTGACCC	0.637																																																	0													71.0	76.0	74.0					19																	8431167		2203	4300	6503	SO:0001583	missense	0			AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.511C>T	19.37:g.8431167C>T	ENSP00000301455:p.Pro171Ser		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.P171S	ENST00000301455.2	37	c.511	CCDS12200.1	19	.	.	.	.	.	.	.	.	.	.	C	3.150	-0.174462	0.06421	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.55413	0.69;0.52;0.72	4.19	1.97	0.26223	.	1.450140	0.04789	U	0.431281	T	0.31827	0.0809	N	0.19112	0.55	0.09310	N	1	B;B	0.32160	0.003;0.358	B;B	0.26517	0.006;0.07	T	0.15321	-1.0441	10	0.08381	T	0.77	.	5.6421	0.17569	0.0:0.6892:0.2009:0.1099	.	171;171	A8MY84;Q9BY76	.;ANGL4_HUMAN	S	171;171;4	ENSP00000301455:P171S;ENSP00000377534:P171S;ENSP00000439833:P4S	ENSP00000301455:P171S	P	+	1	0	ANGPTL4	8337167	0.000000	0.05858	0.001000	0.08648	0.083000	0.17756	0.093000	0.15086	0.489000	0.27749	0.655000	0.94253	CCA	ANGPTL4	-	NULL	ENSG00000167772		0.637	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL4	HGNC	protein_coding	OTTHUMT00000460322.1	-	0.00	35	0	C	NM_139314		8431167	+1	tier1	-	no_errors	ENST00000301455	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.001	T
ANK1	286	genome.wustl.edu	37	8	41553959	41553959	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:41553959G>A	ENST00000347528.4	-	26	2965	c.2882C>T	c.(2881-2883)aCg>aTg	p.T961M	ANK1_ENST00000289734.7_Missense_Mutation_p.T961M|ANK1_ENST00000379758.2_Missense_Mutation_p.T961M|ANK1_ENST00000265709.8_Missense_Mutation_p.T1002M|ANK1_ENST00000396942.1_Missense_Mutation_p.T961M|ANK1_ENST00000396945.1_Missense_Mutation_p.T961M|ANK1_ENST00000352337.4_Missense_Mutation_p.T961M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	961	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGGGGCGGCGTGCTGAGCTT	0.711																																																	0													37.0	39.0	38.0					8																	41553959		2203	4298	6501	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2882C>T	8.37:g.41553959G>A	ENSP00000339620:p.Thr961Met		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.T961M	ENST00000347528.4	37	c.2882	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646892	0.87958	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.53	5.53	0.82687	ZU5 (3);	0.224017	0.44285	D	0.000477	T	0.62804	0.2458	L	0.56769	1.78	0.58432	D	0.99999	D;D;P;P;D;D	0.89917	0.994;0.998;0.511;0.508;0.994;1.0	P;P;B;B;P;D	0.72338	0.801;0.778;0.105;0.058;0.706;0.977	T	0.61608	-0.7028	10	0.51188	T	0.08	.	19.4479	0.94855	0.0:0.0:1.0:0.0	.	1002;961;961;961;961;277	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	M	961;961;961;961;961;961;1002;961	ENSP00000339620:T961M;ENSP00000289734:T961M;ENSP00000369082:T961M;ENSP00000380149:T961M;ENSP00000380147:T961M;ENSP00000309131:T961M;ENSP00000265709:T1002M	ENSP00000265709:T1002M	T	-	2	0	ANK1	41673116	1.000000	0.71417	0.991000	0.47740	0.891000	0.51852	5.401000	0.66326	2.599000	0.87857	0.561000	0.74099	ACG	ANK1	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000029534		0.711	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	-	0.00	99	0	G	NM_020475		41553959	-1	tier1	-	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	21.80	104	29	SNP	1.000	A
ANK2	287	genome.wustl.edu	37	4	114294594	114294594	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:114294594G>A	ENST00000357077.4	+	45	11901	c.11848G>A	c.(11848-11850)Gag>Aag	p.E3950K	ANK2_ENST00000394537.3_Missense_Mutation_p.E1865K|ANK2_ENST00000509550.1_Missense_Mutation_p.E1041K|ANK2_ENST00000510275.2_Missense_Mutation_p.E548K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1856K|ANK2_ENST00000264366.6_Missense_Mutation_p.E3917K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3950					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGTGACACCGAGCAGTCAGA	0.418																																																	0													103.0	98.0	99.0					4																	114294594		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11848G>A	4.37:g.114294594G>A	ENSP00000349588:p.Glu3950Lys		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.E3950K	ENST00000357077.4	37	c.11848	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.16|10.16	1.273188|1.273188	0.23221|0.23221	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960;ENST00000506344;ENST00000514167	T;T;T;T;T;D;D|.	0.96300|.	-0.31;-0.28;-0.35;-0.36;-1.06;-2.04;-3.97|.	5.76|5.76	-1.61|-1.61	0.08399|0.08399	.|.	1.467820|.	0.04745|.	N|.	0.423564|.	T|T	0.40347|0.40347	0.1113|0.1113	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;B;B;P;B;P;B;B|.	0.46020|.	0.031;0.324;0.117;0.519;0.226;0.871;0.005;0.037|.	B;B;B;B;B;B;B;B|.	0.29598|.	0.015;0.035;0.035;0.057;0.017;0.104;0.003;0.021|.	T|T	0.38845|0.38845	-0.9642|-0.9642	10|5	0.32370|.	T|.	0.25|.	.|.	6.7665|6.7665	0.23571|0.23571	0.2498:0.3305:0.4197:0.0|0.2498:0.3305:0.4197:0.0	.|.	1041;27;28;931;897;1865;3950;1856|.	E9PCH6;A5XEJ9;E9PB80;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.;.;.|.	K|Q	1856;931;1865;3950;3917;1856;1041;548;960|897;41;27	ENSP00000421067:E1856K;ENSP00000378044:E1865K;ENSP00000349588:E3950K;ENSP00000264366:E3917K;ENSP00000426944:E1041K;ENSP00000421023:E548K;ENSP00000422498:E960K|.	ENSP00000264366:E3917K|.	E|R	+|+	1|2	0|0	ANK2|ANK2	114514043|114514043	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.331000|0.331000	0.28603|0.28603	0.746000|0.746000	0.26275|0.26275	-0.765000|-0.765000	0.04645|0.04645	-0.137000|-0.137000	0.14449|0.14449	GAG|CGA	ANK2	-	NULL	ENSG00000145362		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0.00	47	0	G	NM_001148		114294594	+1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.000	A
ANK3	288	genome.wustl.edu	37	10	61819734	61819734	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:61819734G>A	ENST00000280772.2	-	41	12787				RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000355288.2_Missense_Mutation_p.T730I|ANK3_ENST00000373827.2_Missense_Mutation_p.T1590I|ANK3_ENST00000503366.1_Missense_Mutation_p.T1597I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCCTGTGGGGGTTTCCAGTTC	0.418																																																	0													55.0	55.0	55.0					10																	61819734		2203	4300	6503	SO:0001627	intron_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12596-546C>T	10.37:g.61819734G>A			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5	p.T730I	ENST00000280772.2	37	c.2189	CCDS7258.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.32|19.32	3.805138|3.805138	0.70682|0.70682	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000514197|ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817	.|T;T;T;T	.|0.57107	.|0.42;0.42;0.42;0.42	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|.	.|.	.|.	.|.	T|T	0.67711|0.67711	0.2922|0.2922	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B;P;B;B;D;D	.|0.67145	.|0.08;0.86;0.002;0.095;0.996;0.995	.|B;B;B;B;D;D	.|0.66716	.|0.027;0.304;0.01;0.03;0.946;0.942	T|T	0.66524|0.66524	-0.5902|-0.5902	5|9	.|0.54805	.|T	.|0.06	.|.	19.9961|19.9961	0.97386|0.97386	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1597;730;1590;831;730;129	.|E9PE32;A8KA62;Q5CZH9;F5GXK0;B1AQT2;B1AQT0	.|.;.;.;.;.;.	S|I	112|1590;188;730;730;1597;1576;831	.|ENSP00000362933:T1590I;ENSP00000362926:T188I;ENSP00000347436:T730I;ENSP00000425236:T1597I	.|ENSP00000347436:T730I	P|T	-|-	1|2	0|0	ANK3|ANK3	61489740|61489740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.008000|7.008000	0.76341|0.76341	2.744000|2.744000	0.94065|0.94065	0.561000|0.561000	0.74099|0.74099	CCC|ACC	ANK3	-	NULL	ENSG00000151150		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0.00	63	0	G	NM_020987		61819734	-1	tier1	-	no_errors	ENST00000355288	ensembl	human	known	74_37	missense	21.43	33	9	SNP	1.000	A
ANK3	288	genome.wustl.edu	37	10	61835822	61835822	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:61835822G>A	ENST00000280772.2	-	37	5008	c.4817C>T	c.(4816-4818)aCg>aTg	p.T1606M	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1606	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGTAGCTTCCGTGACTGCTGG	0.483																																																	0													124.0	119.0	121.0					10																	61835822		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4817C>T	10.37:g.61835822G>A	ENSP00000280772:p.Thr1606Met		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.T1606M	ENST00000280772.2	37	c.4817	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692828	0.48202	.	.	ENSG00000151150	ENST00000280772	T	0.67171	-0.25	5.79	4.89	0.63831	.	0.170348	0.27710	N	0.018165	T	0.59018	0.2163	L	0.50333	1.59	0.80722	D	1	B	0.31752	0.338	B	0.16289	0.015	T	0.61187	-0.7113	10	0.59425	D	0.04	.	15.0995	0.72262	0.0682:0.0:0.9318:0.0	.	1606	Q12955	ANK3_HUMAN	M	1606	ENSP00000280772:T1606M	ENSP00000280772:T1606M	T	-	2	0	ANK3	61505828	1.000000	0.71417	0.906000	0.35671	0.882000	0.50991	4.060000	0.57477	1.469000	0.48083	-0.186000	0.12905	ACG	ANK3	-	NULL	ENSG00000151150		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0.00	50	0	G	NM_020987		61835822	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	10.42	43	5	SNP	0.949	A
ANKMY1	51281	genome.wustl.edu	37	2	241465733	241465733	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:241465733G>A	ENST00000272972.3	-	5	1030	c.816C>T	c.(814-816)caC>caT	p.H272H	ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.H361H|ANKMY1_ENST00000391987.1_Silent_p.H272H|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	272							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AAATCCATTCGTGGTTCCCTT	0.567																																																	0													170.0	147.0	155.0					2																	241465733		2203	4300	6503	SO:0001819	synonymous_variant	0			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.816C>T	2.37:g.241465733G>A			B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.H272	ENST00000272972.3	37	c.816	CCDS2536.1	2																																																																																			ANKMY1	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000144504		0.567	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding	OTTHUMT00000257187.2	-	0.00	61	0	G	NM_017844		241465733	-1	tier1	-	no_errors	ENST00000272972	ensembl	human	known	74_37	silent	28.57	45	18	SNP	0.001	A
ANKRD10	55608	genome.wustl.edu	37	13	111553046	111553046	+	Intron	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:111553046A>G	ENST00000267339.2	-	3	590				ANKRD10_ENST00000489973.2_Intron|ANKRD10_ENST00000310847.4_Intron|ANKRD10-IT1_ENST00000426991.1_RNA|ANKRD10_ENST00000375758.5_Intron	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10											central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			ACGTAGCTGTAAAACATTGAC	0.368																																																	0													136.0	137.0	137.0					13																	111553046		876	1991	2867	SO:0001627	intron_variant	0			AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.455+5333T>C	13.37:g.111553046A>G			Q5VW12|Q9BV12	RNA	SNP	-	NULL	ENST00000267339.2	37	NULL	CCDS9520.1	13																																																																																			ANKRD10	-	-	ENSG00000088448		0.368	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD10	HGNC	protein_coding	OTTHUMT00000045783.1	-	0.00	33	0	A			111553046	-1	tier1	-	no_errors	ENST00000475809	ensembl	human	known	74_37	rna	16.67	25	5	SNP	1.000	G
ANKRD17	26057	genome.wustl.edu	37	4	73957694	73957694	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:73957694G>A	ENST00000358602.4	-	29	5767	c.5651C>T	c.(5650-5652)gCa>gTa	p.A1884V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1771V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1633V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1884					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGAGGATATGCTAATGGAAG	0.473																																																	0													157.0	159.0	158.0					4																	73957694		2203	4300	6503	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5651C>T	4.37:g.73957694G>A	ENSP00000351416:p.Ala1884Val		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.A1884V	ENST00000358602.4	37	c.5651	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995818	0.74703	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.71698	-0.57;-0.56;-0.59	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000006	D	0.82273	0.5001	L	0.54323	1.7	0.52099	D	0.999942	D;D;D;D	0.67145	0.996;0.996;0.993;0.993	D;D;D;D	0.77557	0.99;0.99;0.978;0.978	T	0.83349	-0.0004	10	0.87932	D	0	.	19.4978	0.95081	0.0:0.0:1.0:0.0	.	1883;1633;1884;1771	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	1884;1291;1633;1771;268	ENSP00000351416:A1884V;ENSP00000332265:A1633V;ENSP00000427151:A1771V	ENSP00000332265:A1633V	A	-	2	0	ANKRD17	74176558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.617000	0.88574	0.467000	0.42956	GCA	ANKRD17	-	NULL	ENSG00000132466		0.473	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	-	0.00	55	0	G	NM_032217		73957694	-1	tier1	-	no_errors	ENST00000358602	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	A
ANKRD19P	138649	genome.wustl.edu	37	9	95588877	95588877	+	RNA	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:95588877T>G	ENST00000473204.1	+	0	1139							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											CATTTGAGTGTTTCTACTCTT	0.393																																																	0																																												0			BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95588877T>G			A8K853|Q17RD3	RNA	SNP	-	NULL	ENST00000473204.1	37	NULL		9																																																																																			ANKRD19P	-	-	ENSG00000187984		0.393	ANKRD19P-004	KNOWN	basic	processed_transcript	ANKRD19P	HGNC	pseudogene	OTTHUMT00000053116.3	-	0.00	21	0	T	NR_026868		95588877	+1	tier1	-	no_errors	ENST00000460854	ensembl	human	known	74_37	rna	19.35	25	6	SNP	0.026	G
ANKRD20A8P	729171	genome.wustl.edu	37	2	95483038	95483038	+	RNA	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:95483038delA	ENST00000432432.2	-	0	1489					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATTCTTCTCTATTTTTTTTGT	0.279																																																	0																																												0					2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95483038delA			A6NC18	RNA	DEL	-	NULL	ENST00000432432.2	37	NULL		2																																																																																			ANKRD20A8P	-	-	ENSG00000229089		0.279	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	ANKRD20A8P	HGNC	pseudogene	OTTHUMT00000451404.1		0.00	85	0	A			95483038	-1			no_errors	ENST00000432432	ensembl	human	known	74_37	rna	11.76	90	12	DEL	0.185	0
ANKRD28	23243	genome.wustl.edu	37	3	15717503	15717503	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:15717503G>A	ENST00000399451.2	-	27	3151				ANKRD28_ENST00000497037.1_Intron|ANKRD28_ENST00000383777.1_Intron	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AGGTCTAGGGGAAAAAacatg	0.438																																																	0													88.0	82.0	84.0					3																	15717503		1921	4127	6048	SO:0001627	intron_variant	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2784-7C>T	3.37:g.15717503G>A			B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	RNA	SNP	-	NULL	ENST00000399451.2	37	NULL	CCDS46769.1	3																																																																																			ANKRD28	-	-	ENSG00000206560		0.438	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	-	0.00	31	0	G	NM_015199		15717503	-1	tier1	-	no_errors	ENST00000498713	ensembl	human	known	74_37	rna	19.44	29	7	SNP	0.000	A
ANKRD29	147463	genome.wustl.edu	37	18	21218906	21218906	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:21218906A>G	ENST00000592179.1	-	4	391	c.237T>C	c.(235-237)ggT>ggC	p.G79G	ANKRD29_ENST00000322980.9_Silent_p.G79G|ANKRD29_ENST00000284207.7_Silent_p.G79G	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	79										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGGCAGTTGTACCTGACTGGG	0.403																																																	0													101.0	97.0	98.0					18																	21218906		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.237T>C	18.37:g.21218906A>G			B2R972|Q6ZWE8|Q96LU9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G79	ENST00000592179.1	37	c.237	CCDS11879.1	18																																																																																			ANKRD29	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000154065		0.403	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD29	HGNC	protein_coding	OTTHUMT00000254825.1	-	0.00	61	0	A	NM_173505		21218906	-1	tier1	-	no_errors	ENST00000592179	ensembl	human	known	74_37	silent	12.68	62	9	SNP	0.999	G
ANKRD33B	651746	genome.wustl.edu	37	5	10618519	10618519	+	Silent	SNP	C	C	T	rs568552373		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:10618519C>T	ENST00000296657.5	+	2	441	c.441C>T	c.(439-441)gaC>gaT	p.D147D		NM_001164440.1	NP_001157912.1	A6NCL7	AN33B_HUMAN	ankyrin repeat domain 33B	147																	CCCACGTTGACGTCAACTGGC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18280	0.0		0.0	False		,,,				2504	0.0																0													93.0	79.0	83.0					5																	10618519		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS47191.1	5p15.2	2013-01-10			ENSG00000164236	ENSG00000164236		"""Ankyrin repeat domain containing"""	35240	protein-coding gene	gene with protein product							Standard	NM_001164440		Approved		uc021xwp.1	A6NCL7	OTTHUMG00000162050	ENST00000296657.5:c.441C>T	5.37:g.10618519C>T				Silent	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.D147	ENST00000296657.5	37	c.441	CCDS47191.1	5																																																																																			ANKRD33B	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000164236		0.592	ANKRD33B-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf|CCDS	protein_coding	ANKRD33B	HGNC	protein_coding	OTTHUMT00000367037.3	-	0.00	88	0	C	XM_001130634		10618519	+1	tier1	-	no_errors	ENST00000504806	ensembl	human	known	74_37	silent	35.00	39	21	SNP	0.995	T
ANKRD34B	340120	genome.wustl.edu	37	5	79855769	79855769	+	Missense_Mutation	SNP	G	G	A	rs201133010	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:79855769G>A	ENST00000338682.3	-	5	742	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	24						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTTGTGAGGCGAAGCCGGCTC	0.453																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	61.0	60.0		70	5.9	1.0	5		60	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ANKRD34B	NM_001004441.2	180	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	probably-damaging	24/515	79855769	8,12998	2203	4300	6503	SO:0001583	missense	0				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.70C>T	5.37:g.79855769G>A	ENSP00000339802:p.Arg24Cys		B2RPH1|Q68D79	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R24C	ENST00000338682.3	37	c.70	CCDS34194.1	5	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176055	0.78564	2.27E-4	8.14E-4	ENSG00000189127	ENST00000338682	T	0.34667	1.35	5.92	5.92	0.95590	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.55417	0.1919	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53961	-0.8364	10	0.87932	D	0	-14.3196	18.8987	0.92433	0.0:0.0:1.0:0.0	.	24	A5PLL1	AN34B_HUMAN	C	24	ENSP00000339802:R24C	ENSP00000339802:R24C	R	-	1	0	ANKRD34B	79891525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.664000	0.61540	2.813000	0.96785	0.561000	0.74099	CGC	ANKRD34B	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000189127		0.453	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34B	HGNC	protein_coding	OTTHUMT00000369475.1	-	0.00	47	0	G	NM_001004441		79855769	-1	tier1	rs201133010	no_errors	ENST00000338682	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	A
ANKRD36C	400986	genome.wustl.edu	37	2	96578015	96578015	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:96578015delT	ENST00000456556.1	-	42	2714	c.2630delA	c.(2629-2631)aagfs	p.K877fs	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000295246.5_Frame_Shift_Del_p.K26fs			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	877							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTCCATCCTTTTTTTCTCT	0.348																																																	0																																										SO:0001589	frameshift_variant	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.2630delA	2.37:g.96578015delT	ENSP00000403302:p.Lys877fs		C9JZ08|Q15694|Q53S06|Q658V2	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K877fs	ENST00000456556.1	37	c.2630		2																																																																																			ANKRD36C	-	NULL	ENSG00000174501		0.348	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2		0.00	266	0	T	NM_001010914		96578015	-1	tier1		no_errors	ENST00000456556	ensembl	human	known	74_37	frame_shift_del	14.91	234	41	DEL	0.057	-
ANKRD49	54851	genome.wustl.edu	37	11	94232497	94232498	+	3'UTR	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:94232497_94232498insT	ENST00000544612.1	+	0	2016_2017				ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_3'UTR|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49						positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATCCTACTGATTTGGGCACTG	0.401																																					Melanoma(113;823 1621 4352 9582 22033)												0																																										SO:0001624	3_prime_UTR_variant	0			AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.*800->T	11.37:g.94232500_94232500dupT			Q8NDF2|Q96JE5|Q9NXK7	RNA	INS	-	NULL	ENST00000544612.1	37	NULL	CCDS8300.1	11																																																																																			ANKRD49	-	-	ENSG00000168876		0.401	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD49	HGNC	protein_coding	OTTHUMT00000396314.2		0.00	12	0	-	NM_017704		94232498	+1	tier1		no_errors	ENST00000538535	ensembl	human	known	74_37	rna	16.67	15	3	INS	0.000:0.000	T
ANKRD6	22881	genome.wustl.edu	37	6	90333705	90333705	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:90333705delC	ENST00000522441.1	+	12	1788	c.1147delC	c.(1147-1149)cccfs	p.P385fs	ANKRD6_ENST00000339746.4_Frame_Shift_Del_p.P385fs|ANKRD6_ENST00000520793.1_Frame_Shift_Del_p.P326fs|ANKRD6_ENST00000369408.5_Frame_Shift_Del_p.P350fs|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Frame_Shift_Del_p.P385fs	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	385	Poly-Pro.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TTCATCCCCACCCCCACCCCA	0.557																																																	0													71.0	77.0	75.0					6																	90333705		2074	4202	6276	SO:0001589	frameshift_variant	0			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1147delC	6.37:g.90333705delC	ENSP00000430985:p.Pro385fs		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P384fs	ENST00000522441.1	37	c.1147	CCDS56441.1	6																																																																																			ANKRD6	-	NULL	ENSG00000135299		0.557	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1		0.00	59	0	C			90333705	+1	tier1		no_errors	ENST00000339746	ensembl	human	known	74_37	frame_shift_del	31.67	41	19	DEL	0.966	-
ANKRD60	140731	genome.wustl.edu	37	20	56796522	56796522	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:56796522C>T	ENST00000457363.1	-	3	598	c.599G>A	c.(598-600)cGa>cAa	p.R200Q				Q9BZ19	ANR60_HUMAN	ankyrin repeat domain 60	200										kidney(1)	1						ATTTGCGGTTCGGTAGAAGGA	0.493																																																	0													126.0	107.0	113.0					20																	56796522		692	1591	2283	SO:0001583	missense	0			AL354776		20q13.32	2013-01-10	2008-03-25	2008-03-25	ENSG00000124227	ENSG00000124227		"""Ankyrin repeat domain containing"""	16217	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 86"""	C20orf86			Standard	XM_006710087		Approved	bA196N14.3		Q9BZ19	OTTHUMG00000032837	ENST00000457363.1:c.599G>A	20.37:g.56796522C>T	ENSP00000396747:p.Arg200Gln		Q4VXE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin_supergroup	p.R200Q	ENST00000457363.1	37	c.599		20	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956533	0.34565	.	.	ENSG00000124227	ENST00000457363	T	0.68025	-0.3	5.14	1.1	0.20463	.	1.222560	0.06261	N	0.693900	T	0.49150	0.1540	N	0.17764	0.52	0.09310	N	1	.	.	.	.	.	.	T	0.39121	-0.9629	8	0.31617	T	0.26	-1.9818	4.1965	0.10445	0.0:0.471:0.1649:0.3641	.	.	.	.	Q	200	ENSP00000396747:R200Q	ENSP00000396747:R200Q	R	-	2	0	ANKRD60	56229928	0.000000	0.05858	0.011000	0.14972	0.031000	0.12232	-0.582000	0.05814	0.213000	0.20722	0.555000	0.69702	CGA	ANKRD60	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000124227		0.493	ANKRD60-201	KNOWN	basic|appris_principal	protein_coding	ANKRD60	HGNC	protein_coding		-	0.00	54	0	C	XM_001134442		56796522	-1	tier1	-	no_errors	ENST00000457363	ensembl	human	known	74_37	missense	18.37	40	9	SNP	0.003	T
Unknown	0	genome.wustl.edu	37	22	17140438	17140438	+	IGR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:17140438delT								TPTEP1 (5739 upstream) : ANKRD62P1-PARP4P3 (14012 downstream)																							CACTATTCCCTTTTTTTCCAC	0.368																																																	0																																										SO:0001628	intergenic_variant	0																															22.37:g.17140438delT				RNA	DEL	-	NULL		37	NULL		22																																																																																			ANKRD62P1-PARP4P3	-	-	ENSG00000189295	0	0.368					ANKRD62P1-PARP4P3	HGNC				0.00	33	0	T			17140438	-1	tier1		no_errors	ENST00000456726	ensembl	human	known	74_37	rna	26.32	14	5	DEL	0.042	-
ANKS6	203286	genome.wustl.edu	37	9	101552504	101552504	+	Silent	SNP	G	G	A	rs36024734		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:101552504G>A	ENST00000353234.4	-	2	791	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ANKS6_ENST00000375018.1_Silent_p.G248G|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Silent_p.G53G			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	248						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGGGTTGGCGCCCTTCTCCA	0.667																																																	0													58.0	63.0	62.0					9																	101552504		2111	4232	6343	SO:0001819	synonymous_variant	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.744C>T	9.37:g.101552504G>A			A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.G248	ENST00000353234.4	37	c.744	CCDS43856.1	9																																																																																			ANKS6	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000165138		0.667	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	-	0.00	36	0	G	NM_173551		101552504	-1	tier1	-	no_errors	ENST00000375018	ensembl	human	known	74_37	silent	25.00	15	5	SNP	1.000	A
ANLN	54443	genome.wustl.edu	37	7	36445892	36445892	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:36445892G>A	ENST00000265748.2	+	4	811	c.590G>A	c.(589-591)gGc>gAc	p.G197D	ANLN_ENST00000396068.2_Missense_Mutation_p.G197D	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	197	Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ACTCCAGTTGGCAGAAGGGGC	0.488																																																	0													76.0	76.0	76.0					7																	36445892		2203	4300	6503	SO:0001583	missense	0			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.590G>A	7.37:g.36445892G>A	ENSP00000265748:p.Gly197Asp		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G197D	ENST00000265748.2	37	c.590	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256668	0.59321	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.03553	3.89;3.89	5.95	5.95	0.96441	.	0.142363	0.64402	D	0.000005	T	0.18299	0.0439	M	0.74258	2.255	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.986;0.994;0.997;0.994	T	0.00003	-1.2575	10	0.87932	D	0	-14.2276	15.1548	0.72733	0.0:0.0:0.8589:0.1411	.	74;197;197;197	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	D	197	ENSP00000265748:G197D;ENSP00000379380:G197D	ENSP00000265748:G197D	G	+	2	0	ANLN	36412417	1.000000	0.71417	0.997000	0.53966	0.059000	0.15707	6.430000	0.73391	2.827000	0.97445	0.650000	0.86243	GGC	ANLN	-	NULL	ENSG00000011426		0.488	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	-	0.00	55	0	G	NM_018685		36445892	+1	tier1	-	no_errors	ENST00000265748	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	A
ANO4	121601	genome.wustl.edu	37	12	101488063	101488063	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:101488063G>A	ENST00000392977.3	+	18	1941	c.1731G>A	c.(1729-1731)acG>acA	p.T577T	ANO4_ENST00000550015.1_Silent_p.T97T|ANO4_ENST00000299222.9_Silent_p.T97T|ANO4_ENST00000392979.3_Silent_p.T542T			Q32M45	ANO4_HUMAN	anoctamin 4	577					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGCTTCTGACGAATTTAGGTG	0.328										HNSCC(74;0.22)																																							0													99.0	100.0	100.0					12																	101488063		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1731G>A	12.37:g.101488063G>A			Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	pfam_Anoctamin	p.T577	ENST00000392977.3	37	c.1731		12																																																																																			ANO4	-	pfam_Anoctamin	ENSG00000151572		0.328	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	-	0.00	90	0	G	NM_178826		101488063	+1	tier1	-	no_errors	ENST00000392977	ensembl	human	known	74_37	silent	38.03	44	27	SNP	0.813	A
ANO8	57719	genome.wustl.edu	37	19	17443959	17443961	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:17443959_17443961delTCC	ENST00000159087.4	-	4	596_598	c.438_440delGGA	c.(436-441)gaggac>gac	p.E146del	GTPBP3_ENST00000361619.5_5'Flank	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	146					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ATAGATAAAGTCCTCCTCGCAGG	0.626																																																	0																																										SO:0001651	inframe_deletion	0			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.438_440delGGA	19.37:g.17443962_17443964delTCC	ENSP00000159087:p.Glu146del		A6NIJ0	In_Frame_Del	DEL	pfam_Anoctamin	p.E146in_frame_del	ENST00000159087.4	37	c.440_438	CCDS32949.1	19																																																																																			ANO8	-	NULL	ENSG00000074855		0.626	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1		0.00	43	0	TCC	XM_050644		17443961	-1	tier1		no_errors	ENST00000159087	ensembl	human	known	74_37	in_frame_del	20.45	35	9	DEL	1.000:1.000:1.000	-
ANXA7	310	genome.wustl.edu	37	10	75135834	75135835	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:75135834_75135835delAA	ENST00000372921.5	-	0	1475_1476					NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7						autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ttttttcattaaaaaaaaaaaa	0.406																																																	0																																										SO:0001624	3_prime_UTR_variant	0			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.*19TT>-	10.37:g.75135844_75135845delAA			Q5F2H3|Q5T0M6|Q5T0M7	RNA	DEL	-	NULL	ENST00000372921.5	37	NULL	CCDS7325.1	10																																																																																			ANXA7	-	-	ENSG00000138279		0.406	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA7	HGNC	protein_coding	OTTHUMT00000048646.2		0.00	42	0	AA	NM_001156		75135835	-1	tier1		no_errors	ENST00000463788	ensembl	human	known	74_37	rna	16.67	30	6	DEL	0.003:0.004	-
ANXA11	311	genome.wustl.edu	37	10	81923157	81923157	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:81923157T>G	ENST00000438331.1	-	12	1516	c.1034A>C	c.(1033-1035)aAc>aCc	p.N345T	ANXA11_ENST00000360615.4_Missense_Mutation_p.N345T|ANXA11_ENST00000537102.1_Missense_Mutation_p.N312T|ANXA11_ENST00000372231.3_Missense_Mutation_p.N345T|ANXA11_ENST00000265447.4_Missense_Mutation_p.N345T|ANXA11_ENST00000422982.3_Missense_Mutation_p.N345T|ANXA11_ENST00000535999.1_Missense_Mutation_p.N345T	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	345					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTCATCACGGTTTCCCTGAAA	0.527																																																	0													132.0	91.0	105.0					10																	81923157		2203	4300	6503	SO:0001583	missense	0			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1034A>C	10.37:g.81923157T>G	ENSP00000398610:p.Asn345Thr		B4DVE7	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII	p.N345T	ENST00000438331.1	37	c.1034	CCDS7364.1	10	.	.	.	.	.	.	.	.	.	.	.	21.1	4.093310	0.76756	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102	T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55	5.43	5.43	0.79202	.	0.089648	0.85682	D	0.000000	T	0.14227	0.0344	L	0.49455	1.56	0.58432	D	0.999996	P;D;D	0.59357	0.875;0.985;0.985	P;P;P	0.61874	0.632;0.895;0.895	T	0.00589	-1.1656	10	0.46703	T	0.11	.	13.7305	0.62785	0.0:0.0:0.0:1.0	.	445;345;345	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	T	345;345;345;345;345;345;345;252;312	ENSP00000361305:N345T;ENSP00000404412:N345T;ENSP00000398610:N345T;ENSP00000353827:N345T;ENSP00000265447:N345T;ENSP00000441748:N345T;ENSP00000441400:N312T	ENSP00000265447:N345T	N	-	2	0	ANXA11	81913137	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.798000	0.62510	2.199000	0.70637	0.533000	0.62120	AAC	ANXA11	-	NULL	ENSG00000122359		0.527	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANXA11	HGNC	protein_coding	OTTHUMT00000049044.1	-	0.00	59	0	T	NM_145869		81923157	-1	tier1	-	no_errors	ENST00000265447	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	G
AP1B1	162	genome.wustl.edu	37	22	29737580	29737580	+	Missense_Mutation	SNP	G	G	A	rs368232828		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:29737580G>A	ENST00000405198.1	-	12	1737	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	AP1B1_ENST00000415447.1_Missense_Mutation_p.T569M|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000402502.1_Missense_Mutation_p.T569M|AP1B1_ENST00000432560.2_Missense_Mutation_p.T569M|AP1B1_ENST00000317368.7_Missense_Mutation_p.T569M|AP1B1_ENST00000357586.2_Missense_Mutation_p.T569M|AP1B1_ENST00000356015.2_Missense_Mutation_p.T569M			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	569					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGAAGCCAGCGTGCCGATGTA	0.607																																																	0								G	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	129.0	100.0	110.0		1706,1706,1706	5.7	1.0	22		110	0,8600		0,0,4300	no	missense,missense,missense	AP1B1	NM_001127.3,NM_001166019.1,NM_145730.2	81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	569/950,569/920,569/940	29737580	1,13005	2203	4300	6503	SO:0001583	missense	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1706C>T	22.37:g.29737580G>A	ENSP00000384194:p.Thr569Met		C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.T569M	ENST00000405198.1	37	c.1706	CCDS13855.1	22	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710244	0.89018	2.27E-4	0.0	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	M	0.73217	2.22	0.80722	D	1	D;P;P;D;D	0.89917	0.996;0.932;0.932;1.0;0.999	P;P;P;D;D	0.73708	0.7;0.574;0.574;0.958;0.981	T	0.13845	-1.0494	10	0.48119	T	0.1	-19.8342	19.3511	0.94387	0.0:0.0:1.0:0.0	.	122;569;569;569;569	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	M	569	ENSP00000350199:T569M;ENSP00000348297:T569M;ENSP00000400065:T569M;ENSP00000384194:T569M;ENSP00000319361:T569M;ENSP00000386071:T569M;ENSP00000387612:T569M;ENSP00000400022:T569M	ENSP00000319361:T569M	T	-	2	0	AP1B1	28067580	1.000000	0.71417	0.960000	0.40013	0.742000	0.42306	9.869000	0.99810	2.665000	0.90641	0.655000	0.94253	ACG	AP1B1	-	superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4	ENSG00000100280		0.607	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	-	0.00	52	0	G	NM_001127		29737580	-1	tier1	-	no_errors	ENST00000357586	ensembl	human	known	74_37	missense	38.10	39	24	SNP	1.000	A
AP1G1	164	genome.wustl.edu	37	16	71803440	71803440	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:71803440delA	ENST00000299980.4	-	6	1084				AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000423132.2_Splice_Site	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCTTGCTTTCAAAAAAAAATA	0.378																																																	0																																										SO:0001627	intron_variant	0			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.642+85T>-	16.37:g.71803440delA			O75709|O75842|Q9UG09|Q9Y3U4	Splice_Site	DEL	-	e6-1	ENST00000299980.4	37	c.643-1	CCDS32480.1	16																																																																																			AP1G1	-	-	ENSG00000166747		0.378	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G1	HGNC	protein_coding	OTTHUMT00000434147.1		0.00	43	0	A			71803440	-1	tier1		no_errors	ENST00000423132	ensembl	human	known	74_37	splice_site_del	23.53	26	8	DEL	0.996	-
AP2A2	161	genome.wustl.edu	37	11	992535	992535	+	Silent	SNP	C	C	T	rs372353121		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:992535C>T	ENST00000448903.2	+	11	1443	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	AP2A2_ENST00000332231.5_Silent_p.Y435Y|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	434					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGAGAAGTACGCGGTGGACT	0.557																																																	0								C	,	0,4122		0,0,2061	84.0	79.0	81.0		1305,1302	-1.5	1.0	11		81	1,8377		0,1,4188	no	coding-synonymous,coding-synonymous	AP2A2	NM_001242837.1,NM_012305.3	,	0,1,6249	TT,TC,CC		0.0119,0.0,0.0080	,	435/941,434/940	992535	1,12499	2061	4189	6250	SO:0001819	synonymous_variant	0			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1302C>T	11.37:g.992535C>T			O75403|Q53ET1|Q96SI8	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.Y435	ENST00000448903.2	37	c.1305	CCDS44512.1	11																																																																																			AP2A2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu	ENSG00000183020		0.557	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2		0.00	34	0	C	NM_012305		992535	+1			no_errors	ENST00000332231	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.991	T
APBA1	320	genome.wustl.edu	37	9	72131557	72131557	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:72131557G>A	ENST00000265381.4	-	2	792	c.570C>T	c.(568-570)taC>taT	p.Y190Y		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	190					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGAGGCCGCCGTAGTCGGCAT	0.677																																																	0													29.0	29.0	29.0					9																	72131557		2202	4298	6500	SO:0001819	synonymous_variant	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.570C>T	9.37:g.72131557G>A			O14914|O60570|Q5VYR8	Silent	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.Y190	ENST00000265381.4	37	c.570	CCDS6630.1	9																																																																																			APBA1	-	NULL	ENSG00000107282		0.677	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	-	0.00	50	0	G	NM_001163		72131557	-1	tier1	-	no_errors	ENST00000265381	ensembl	human	known	74_37	silent	19.57	37	9	SNP	0.984	A
APBB1	322	genome.wustl.edu	37	11	6423942	6423942	+	Missense_Mutation	SNP	C	C	T	rs375733189		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6423942C>T	ENST00000609360.1	-	7	1217	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	APBB1_ENST00000389906.2_Missense_Mutation_p.R373H|APBB1_ENST00000608704.1_Missense_Mutation_p.R114H|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.R373H|APBB1_ENST00000608655.1_Missense_Mutation_p.R153H|APBB1_ENST00000609331.1_Missense_Mutation_p.R138H|APBB1_ENST00000608645.1_Missense_Mutation_p.R114H|APBB1_ENST00000530885.1_Missense_Mutation_p.R153H|APBB1_ENST00000608394.1_Missense_Mutation_p.R114H|APBB1_ENST00000311051.3_Missense_Mutation_p.R373H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	373	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCTAGGGAGCGCACGGCGAA	0.572																																					GBM(147;1810 2556 5672 39622)												0								C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	71.0	70.0	70.0		1118,1118	5.0	1.0	11		70	3,8589	3.0+/-9.4	0,3,4293	no	missense,missense	APBB1	NM_001164.2,NM_145689.1	29,29	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	373/711,373/709	6423942	3,12991	2201	4296	6497	SO:0001583	missense	0			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1118G>A	11.37:g.6423942C>T	ENSP00000477213:p.Arg373His		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.R373H	ENST00000609360.1	37	c.1118		11	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524851	0.64747	0.0	3.49E-4	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.17238	0.0414	L	0.42581	1.335	0.80722	D	1	B;P;P;B	0.39535	0.009;0.677;0.474;0.365	B;B;B;B	0.26310	0.003;0.059;0.068;0.053	T	0.03017	-1.1082	10	0.45353	T	0.12	-12.9436	9.784	0.40664	0.0:0.9049:0.0:0.0951	.	222;138;153;373	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	H	373;373;373;222;114;138;153;114	ENSP00000299402:R373H;ENSP00000311912:R373H;ENSP00000374556:R373H;ENSP00000433338:R153H;ENSP00000437114:R114H	ENSP00000299402:R373H	R	-	2	0	APBB1	6380518	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.957000	0.70323	2.497000	0.84241	0.591000	0.81541	CGC	APBB1	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000166313		0.572	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1		0.00	37	0	C	NM_001164		6423942	-1			no_errors	ENST00000389906	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	T
APOA1	335	genome.wustl.edu	37	11	116706756	116706756	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:116706756C>T	ENST00000236850.4	-	4	937	c.572G>A	c.(571-573)aGc>aAc	p.S191N	APOA1_ENST00000375320.1_Missense_Mutation_p.S191N|APOA1_ENST00000375329.2_Missense_Mutation_p.S169N|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375323.1_Missense_Mutation_p.S191N|APOA1_ENST00000359492.2_Missense_Mutation_p.S191N	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	191	10 X approximate tandem repeats.				adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CAGCTCGTCGCTGTAGGGGGC	0.701																																																	0													16.0	18.0	17.0					11																	116706756		2194	4273	6467	SO:0001583	missense	0			X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"""Apolipoproteins"""	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.572G>A	11.37:g.116706756C>T	ENSP00000236850:p.Ser191Asn		A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Missense_Mutation	SNP	pfam_ApoA1_A4_E	p.S191N	ENST00000236850.4	37	c.572	CCDS8378.1	11	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575877	0.28092	.	.	ENSG00000118137	ENST00000375320;ENST00000359492;ENST00000375329;ENST00000375323;ENST00000236850	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.05	1.67	0.24075	.	0.320380	0.24449	U	0.038428	T	0.79811	0.4510	M	0.85197	2.74	0.37866	D	0.929879	P	0.42248	0.774	P	0.49799	0.622	T	0.79827	-0.1639	10	0.48119	T	0.1	-19.9836	8.3785	0.32457	0.0:0.6011:0.2409:0.158	.	191	P02647	APOA1_HUMAN	N	191;191;169;191;191	ENSP00000364469:S191N;ENSP00000352471:S191N;ENSP00000364478:S169N;ENSP00000364472:S191N;ENSP00000236850:S191N	ENSP00000236850:S191N	S	-	2	0	APOA1	116211966	0.983000	0.35010	0.946000	0.38457	0.016000	0.09150	0.200000	0.17257	0.532000	0.28657	-0.371000	0.07208	AGC	APOA1	-	pfam_ApoA1_A4_E	ENSG00000118137		0.701	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA1	HGNC	protein_coding	OTTHUMT00000106281.2		0.00	41	0	C	NM_000039		116706756	-1			no_errors	ENST00000236850	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.980	T
APOC1	341	genome.wustl.edu	37	19	45419666	45419666	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:45419666delA	ENST00000588750.1	+	4	519				APOC1_ENST00000588802.1_Intron|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000586638.1_Intron|APOC1_ENST00000252491.4_Intron|APOC1_ENST00000592885.1_Frame_Shift_Del_p.E93fs			P02654	APOC1_HUMAN	apolipoprotein C-I						cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GAACAGATTGAAAAAAAAACA	0.522																																																	0																																										SO:0001627	intron_variant	0			X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"""Apolipoproteins"""	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.194+84A>-	19.37:g.45419666delA			B2R526|Q6IB97	Frame_Shift_Del	DEL	pfam_ApoC-I	p.T96fs	ENST00000588750.1	37	c.278	CCDS12648.1	19																																																																																			APOC1	-	NULL	ENSG00000130208		0.522	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOC1	HGNC	protein_coding	OTTHUMT00000453245.1		0.00	22	0	A			45419666	+1	tier1		no_errors	ENST00000592885	ensembl	human	novel	74_37	frame_shift_del	12.50	28	4	DEL	0.005	-
APP	351	genome.wustl.edu	37	21	27264106	27264106	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:27264106C>T	ENST00000346798.3	-	17	2172	c.2139G>A	c.(2137-2139)gcG>gcA	p.A713A	APP_ENST00000440126.3_Silent_p.A689A|APP_ENST00000439274.2_Silent_p.A657A|APP_ENST00000348990.5_Silent_p.A638A|APP_ENST00000358918.3_Silent_p.A695A|APP_ENST00000448388.2_Silent_p.A603A|APP_ENST00000354192.3_Silent_p.A582A|APP_ENST00000359726.3_Silent_p.A657A|APP_ENST00000357903.3_Silent_p.A694A	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	713		Cleavage; by gamma-secretase; site 2.	A -> T (in AD1). {ECO:0000269|PubMed:1303275, ECO:0000269|PubMed:15365148}.|A -> V (in one chronic schizophrenia patient; unknown pathological significance; dbSNP:rs1800557). {ECO:0000269|PubMed:1307241}.		adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CGATCACTGTCGCTATGACAA	0.423																																																	0													161.0	126.0	138.0					21																	27264106		2203	4300	6503	SO:0001819	synonymous_variant	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.2139G>A	21.37:g.27264106C>T			B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Silent	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.A713	ENST00000346798.3	37	c.2139	CCDS13576.1	21																																																																																			APP	-	pfam_Amyloid_glyco_Abeta,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta	ENSG00000142192		0.423	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	-	0.00	62	0	C	NM_000484		27264106	-1	tier1	-	no_errors	ENST00000346798	ensembl	human	known	74_37	silent	30.65	43	19	SNP	0.996	T
APP	351	genome.wustl.edu	37	21	27269931	27269931	+	Missense_Mutation	SNP	G	G	A	rs193922916		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:27269931G>A	ENST00000346798.3	-	16	2051	c.2018C>T	c.(2017-2019)gCa>gTa	p.A673V	APP_ENST00000440126.3_Missense_Mutation_p.A649V|APP_ENST00000439274.2_Missense_Mutation_p.A617V|APP_ENST00000348990.5_Missense_Mutation_p.A598V|APP_ENST00000358918.3_Missense_Mutation_p.A655V|APP_ENST00000448388.2_Missense_Mutation_p.A563V|APP_ENST00000354192.3_Missense_Mutation_p.A542V|APP_ENST00000359726.3_Missense_Mutation_p.A617V|APP_ENST00000357903.3_Missense_Mutation_p.A654V	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	673		Cleavage; by caspase-6; when associated with variant 670-N-L-671.			adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCGGAATTCTGCATCCATCTT	0.363																																																	0													194.0	184.0	187.0					21																	27269931		2203	4300	6503	SO:0001583	missense	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.2018C>T	21.37:g.27269931G>A	ENSP00000284981:p.Ala673Val		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.A673V	ENST00000346798.3	37	c.2018	CCDS13576.1	21	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300452	0.60195	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	D;D;D;D;D;D;D;D;D;D	0.96136	-1.97;-3.92;-3.92;-1.98;-1.8;-3.92;-3.92;-1.98;-1.97;-2.97	5.5	5.5	0.81552	Amyloidogenic glycoprotein, amyloid-beta peptide (1);	0.159480	0.56097	D	0.000025	D	0.91815	0.7410	L	0.29908	0.895	0.47009	D	0.999281	P;P;P;P;P;P;P	0.42357	0.777;0.485;0.608;0.749;0.728;0.59;0.656	B;B;B;B;B;B;B	0.42555	0.297;0.256;0.055;0.341;0.117;0.117;0.391	D	0.89448	0.3728	10	0.05833	T	0.94	-19.7995	19.1816	0.93625	0.0:0.0:1.0:0.0	.	563;617;649;542;598;654;673	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	V	673;542;598;654;655;617;563;649;617;242	ENSP00000284981:A673V;ENSP00000346129:A542V;ENSP00000345463:A598V;ENSP00000350578:A654V;ENSP00000351796:A655V;ENSP00000352760:A617V;ENSP00000388538:A563V;ENSP00000387483:A649V;ENSP00000398879:A617V;ENSP00000397795:A242V	ENSP00000284981:A673V	A	-	2	0	APP	26191802	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	6.456000	0.73501	2.864000	0.98301	0.551000	0.68910	GCA	APP	-	NULL	ENSG00000142192		0.363	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	-	0.00	72	0	G	NM_000484		27269931	-1	tier1	rs193922916	no_errors	ENST00000346798	ensembl	human	known	74_37	missense	10.00	54	6	SNP	0.997	A
APPBP2	10513	genome.wustl.edu	37	17	58539518	58539518	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:58539518delA	ENST00000083182.3	-	7	1050				APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2						intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AGTTAATAAGAAAAAAAACCC	0.284																																																	0																																										SO:0001627	intron_variant	0			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.763-96T>-	17.37:g.58539518delA			A8K862|O95095|Q8WVC9	RNA	DEL	-	NULL	ENST00000083182.3	37	NULL	CCDS32699.1	17																																																																																			APPBP2	-	-	ENSG00000062725		0.284	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPBP2	HGNC	protein_coding	OTTHUMT00000449465.1		0.00	43	0	A	NM_006380		58539518	-1	tier1		no_errors	ENST00000592995	ensembl	human	known	74_37	rna	41.46	24	17	DEL	0.694	-
AQP3	360	genome.wustl.edu	37	9	33442212	33442212	+	Intron	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:33442212delG	ENST00000297991.4	-	6	791				AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)						excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGCCGGTCCTGGGGGGACAGA	0.642																																																	0													19.0	22.0	21.0					9																	33442212		2190	4280	6470	SO:0001627	intron_variant	0				CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.711-3C>-	9.37:g.33442212delG			A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	RNA	DEL	-	NULL	ENST00000297991.4	37	NULL	CCDS6542.1	9																																																																																			AQP3	-	-	ENSG00000165272		0.642	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	AQP3	HGNC	protein_coding	OTTHUMT00000052055.1		0.00	18	0	G	NM_004925		33442212	-1	tier1		no_errors	ENST00000493581	ensembl	human	known	74_37	rna	38.46	8	5	DEL	0.996	-
ARAP1	116985	genome.wustl.edu	37	11	72425237	72425238	+	Frame_Shift_Ins	INS	-	-	GG	rs377222092		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:72425237_72425238insGG	ENST00000393609.3	-	4	840_841	c.638_639insCC	c.(637-639)ccgfs	p.P213fs	ARAP1_ENST00000334211.8_5'UTR|ARAP1_ENST00000455638.2_Frame_Shift_Ins_p.P213fs|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000359373.5_Frame_Shift_Ins_p.P213fs|ARAP1_ENST00000393605.3_5'Flank	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	213					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GAGGTATCTCCGGGGGGCAGGG	0.653																																					Ovarian(102;1198 1520 13195 17913 37529)												0																																										SO:0001589	frameshift_variant	0			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.637_638dupCC	11.37:g.72425242_72425243dupGG	ENSP00000377233:p.Pro213fs		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.E214fs	ENST00000393609.3	37	c.639_638	CCDS41687.1	11																																																																																			ARAP1	-	NULL	ENSG00000186635		0.653	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1		0.00	50	0	-	NM_001040118		72425238	-1	tier1		no_errors	ENST00000393609	ensembl	human	known	74_37	frame_shift_ins	12.28	50	7	INS	0.020:0.300	GG
ARAP2	116984	genome.wustl.edu	37	4	36212182	36212182	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:36212182delT	ENST00000303965.4	-	6	1806	c.1317delA	c.(1315-1317)aaafs	p.K439fs		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	439					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAATCAAGGCTTTTTGAGTCC	0.383																																																	0													141.0	143.0	142.0					4																	36212182		2203	4300	6503	SO:0001589	frameshift_variant	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1317delA	4.37:g.36212182delT	ENSP00000302895:p.Lys439fs		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.A440fs	ENST00000303965.4	37	c.1317	CCDS3441.1	4																																																																																			ARAP2	-	NULL	ENSG00000047365		0.383	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2		0.00	64	0	T	NM_015230		36212182	-1	tier1		no_errors	ENST00000303965	ensembl	human	known	74_37	frame_shift_del	17.95	64	14	DEL	0.982	-
ARFGEF2	10564	genome.wustl.edu	37	20	47602031	47602031	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:47602031A>T	ENST00000371917.4	+	16	2157	c.2157A>T	c.(2155-2157)gaA>gaT	p.E719D		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	719	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACTTCTGTGAAAAAGAATTTG	0.468																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													128.0	112.0	117.0					20																	47602031		2203	4300	6503	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2157A>T	20.37:g.47602031A>T	ENSP00000360985:p.Glu719Asp		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.E719D	ENST00000371917.4	37	c.2157	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153811	0.38021	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.74842	-0.88	6.03	-4.23	0.03789	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.099808	0.64402	D	0.000002	T	0.39600	0.1084	N	0.02120	-0.675	0.33643	D	0.607539	B	0.02656	0.0	B	0.01281	0.0	T	0.42068	-0.9473	10	0.08599	T	0.76	.	13.053	0.58964	0.3467:0.0977:0.5556:0.0	.	719	Q9Y6D5	BIG2_HUMAN	D	719	ENSP00000360985:E719D	ENSP00000360985:E719D	E	+	3	2	ARFGEF2	47035438	0.723000	0.28027	0.977000	0.42913	0.993000	0.82548	-0.046000	0.11983	-0.573000	0.05998	0.533000	0.62120	GAA	ARFGEF2	-	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000124198		0.468	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	-	0.00	73	0	A	NM_006420		47602031	+1	tier1	-	no_errors	ENST00000371917	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.780	T
ARHGAP11B	89839	genome.wustl.edu	37	15	30926445	30926445	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:30926445delT	ENST00000428041.2	+	4	515	c.370delT	c.(370-372)tttfs	p.F125fs		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	125	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTTAAGCAGTTTTTTAGGGA	0.393																																																	0													26.0	27.0	26.0					15																	30926445		2196	4275	6471	SO:0001589	frameshift_variant	0			BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"""Rho GTPase activating proteins"""	15782	protein-coding gene	gene with protein product	"""GAP (1-8)"""		"""family with sequence similarity 7, member B1"""	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.370delT	15.37:g.30926445delT	ENSP00000392760:p.Phe125fs			Frame_Shift_Del	DEL	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.F125fs	ENST00000428041.2	37	c.370	CCDS32185.1	15																																																																																			ARHGAP11B	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000187951		0.393	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11B	HGNC	protein_coding	OTTHUMT00000430729.1		0.00	48	0	T	NM_001039841		30926445	+1			no_errors	ENST00000428041	ensembl	human	known	74_37	frame_shift_del	33.33	18	9	DEL	1.000	0
ARHGAP12	94134	genome.wustl.edu	37	10	32096255	32096255	+	3'UTR	DEL	A	A	-	rs538066580	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:32096255delA	ENST00000344936.2	-	0	3106				ARHGAP12_ENST00000396144.4_3'UTR|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000311380.4_3'UTR|ARHGAP12_ENST00000375250.5_3'UTR|ARHGAP12_ENST00000375245.4_3'UTR	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12						morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AATTTCAGGGAAAAAAAATAC	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.*331T>-	10.37:g.32096255delA			B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	RNA	DEL	-	NULL	ENST00000344936.2	37	NULL	CCDS7170.1	10																																																																																			ARHGAP12	-	-	ENSG00000165322		0.289	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	ARHGAP12	HGNC	protein_coding	OTTHUMT00000047465.1		0.00	42	0	A			32096255	-1	tier1		no_errors	ENST00000492028	ensembl	human	known	74_37	rna	22.00	39	11	DEL	0.000	-
ARHGAP17	55114	genome.wustl.edu	37	16	24960750	24960750	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:24960750G>A	ENST00000289968.6	-	13	1171	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P368S	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	368	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTTTGTGGTGGCAACTTCTGA	0.353																																																	0													117.0	105.0	109.0					16																	24960750		2196	4300	6496	SO:0001583	missense	0			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1102C>T	16.37:g.24960750G>A	ENSP00000289968:p.Pro368Ser		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.P368S	ENST00000289968.6	37	c.1102	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.111675	0.94339	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.27557	1.66;1.66	6.06	6.06	0.98353	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.42053	D	0.000780	T	0.66906	0.2837	M	0.92649	3.33	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.73777	-0.3876	10	0.87932	D	0	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	368;368;368	C9IZD3;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	S	368	ENSP00000289968:P368S;ENSP00000303130:P368S	ENSP00000289968:P368S	P	-	1	0	ARHGAP17	24868251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.733000	0.91539	2.882000	0.98803	0.655000	0.94253	CCA	ARHGAP17	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000140750		0.353	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	-	0.00	56	0	G	NM_018054		24960750	-1	tier1	-	no_errors	ENST00000289968	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	A
ARHGAP21	57584	genome.wustl.edu	37	10	24889664	24889664	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:24889664C>T	ENST00000396432.2	-	14	3529	c.3043G>A	c.(3043-3045)Gac>Aac	p.D1015N	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D802N|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1014	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CATTCACAGTCGGACGTGGTG	0.478																																																	0													118.0	112.0	114.0					10																	24889664		2203	4298	6501	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3043G>A	10.37:g.24889664C>T	ENSP00000379709:p.Asp1015Asn		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.D1015N	ENST00000396432.2	37	c.3043	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427131	0.83667	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	6.02	6.02	0.97574	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86961	0.6059	L	0.39467	1.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.86018	0.1505	10	0.52906	T	0.07	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1005;1014	F8W9U9;Q5T5U3	.;RHG21_HUMAN	N	1015;802;1005;1015;850	ENSP00000379709:D1015N;ENSP00000365604:D802N;ENSP00000365592:D1005N;ENSP00000405018:D1015N	ENSP00000365604:D802N	D	-	1	0	ARHGAP21	24929670	1.000000	0.71417	0.892000	0.35008	0.258000	0.26162	7.767000	0.85331	2.865000	0.98341	0.655000	0.94253	GAC	ARHGAP21	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000107863		0.478	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0.00	61	0	C	NM_020824		24889664	-1	tier1	-	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
ARHGAP21	57584	genome.wustl.edu	37	10	24889717	24889717	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:24889717T>A	ENST00000396432.2	-	14	3476	c.2990A>T	c.(2989-2991)gAc>gTc	p.D997V	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D784V|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	996	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTAAGAGATGTCTATCAAGCA	0.463																																																	0													96.0	93.0	94.0					10																	24889717		2202	4281	6483	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2990A>T	10.37:g.24889717T>A	ENSP00000379709:p.Asp997Val		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.D997V	ENST00000396432.2	37	c.2990	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657207	0.88154	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86381	0.5919	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.998;1.0	D	0.88139	0.2843	10	0.87932	D	0	.	15.907	0.79439	0.0:0.0:0.0:1.0	.	987;996	F8W9U9;Q5T5U3	.;RHG21_HUMAN	V	997;784;987;997;832	ENSP00000379709:D997V;ENSP00000365604:D784V;ENSP00000365592:D987V;ENSP00000405018:D997V	ENSP00000365604:D784V	D	-	2	0	ARHGAP21	24929723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.984000	0.88150	2.164000	0.68074	0.533000	0.62120	GAC	ARHGAP21	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000107863		0.463	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0.00	60	0	T	NM_020824		24889717	-1	tier1	-	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	21.33	58	16	SNP	1.000	A
ARHGAP23	57636	genome.wustl.edu	37	17	36622835	36622835	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:36622835G>T	ENST00000431231.2	+	7	979	c.911G>T	c.(910-912)cGg>cTg	p.R304L	ARHGAP23_ENST00000437668.3_Missense_Mutation_p.R304L|ARHGAP23_ENST00000443378.1_Missense_Mutation_p.R210L	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	304					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						GGGGAGAGACGGTGCCCAGCC	0.736																																																	0													3.0	4.0	4.0					17																	36622835		575	1425	2000	SO:0001583	missense	0			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.911G>T	17.37:g.36622835G>T	ENSP00000393539:p.Arg304Leu			Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R304L	ENST00000431231.2	37	c.911	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077373	0.55753	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.22336	1.96;2.35;2.37	4.09	4.09	0.47781	.	.	.	.	.	T	0.23014	0.0556	N	0.22421	0.69	0.28472	N	0.915387	P;D	0.56035	0.956;0.974	P;P	0.49999	0.526;0.628	T	0.06215	-1.0839	9	0.48119	T	0.1	.	15.2211	0.73310	0.0:0.0:1.0:0.0	.	304;304	Q9P227;Q9P227-2	RHG23_HUMAN;.	L	304;304;210	ENSP00000394153:R304L;ENSP00000393539:R304L;ENSP00000407333:R210L	ENSP00000393539:R304L	R	+	2	0	ARHGAP23	33876361	0.509000	0.26163	1.000000	0.80357	0.995000	0.86356	1.502000	0.35704	2.130000	0.65690	0.555000	0.69702	CGG	ARHGAP23	-	NULL	ENSG00000225485		0.736	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	-	0.00	11	0	G	XM_290799		36622835	+1	tier1	-	no_errors	ENST00000431231	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	T
ARHGAP23	57636	genome.wustl.edu	37	17	36634129	36634129	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:36634129G>A	ENST00000431231.2	+	12	2496	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	ARHGAP23_ENST00000437668.3_Missense_Mutation_p.E810K|ARHGAP23_ENST00000443378.1_Missense_Mutation_p.E716K	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	810					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						CAGCAGGGCCGAGGGCGAGGT	0.672																																																	0													1.0	2.0	1.0					17																	36634129		272	835	1107	SO:0001583	missense	0			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.2428G>A	17.37:g.36634129G>A	ENSP00000393539:p.Glu810Lys			Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.E810K	ENST00000431231.2	37	c.2428	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	g	19.11	3.764242	0.69878	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.78924	-1.22;-1.22;-1.22	3.59	3.59	0.41128	Pleckstrin homology domain (1);	0.359553	0.27060	N	0.021135	T	0.74275	0.3695	L	0.43152	1.355	0.40543	D	0.981047	D;D	0.67145	0.996;0.995	P;P	0.48654	0.512;0.585	T	0.74237	-0.3730	10	0.30078	T	0.28	.	14.1088	0.65109	0.0:0.0:1.0:0.0	.	810;810	Q9P227;Q9P227-2	RHG23_HUMAN;.	K	810;810;716	ENSP00000394153:E810K;ENSP00000393539:E810K;ENSP00000407333:E716K	ENSP00000393539:E810K	E	+	1	0	ARHGAP23	33887655	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.144000	0.94629	1.854000	0.53819	0.401000	0.26515	GAG	ARHGAP23	-	smart_Pleckstrin_homology	ENSG00000225485		0.672	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	-	0.00	72	0	G	XM_290799		36634129	+1	tier1	-	no_errors	ENST00000431231	ensembl	human	known	74_37	missense	14.29	54	9	SNP	1.000	A
ARHGAP28	79822	genome.wustl.edu	37	18	6873435	6873435	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:6873435G>T	ENST00000383472.4	+	8	1086	c.982G>T	c.(982-984)Ggc>Tgc	p.G328C	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.G151C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.G276C|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.G164C|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.G169C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.G169C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.G328C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.G169C			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	328					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AACCAGATTTGGCTTAACTGA	0.363																																																	0													117.0	117.0	117.0					18																	6873435		2203	4300	6503	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.982G>T	18.37:g.6873435G>T	ENSP00000372964:p.Gly328Cys		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G328C	ENST00000383472.4	37	c.982		18	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148372	0.78001	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.18174	2.5;2.47;2.27;2.41;2.27;2.23	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.78456	2.415	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.41627	-0.9498	10	0.54805	T	0.06	.	19.224	0.93810	0.0:0.0:1.0:0.0	.	328;160;169;276	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	C	328;276;169;164;169;169;160;151	ENSP00000382963:G328C;ENSP00000262227:G276C;ENSP00000392660:G169C;ENSP00000437262:G164C;ENSP00000313506:G169C;ENSP00000406907:G169C	ENSP00000262227:G276C	G	+	1	0	ARHGAP28	6863435	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	7.103000	0.77014	2.614000	0.88457	0.650000	0.86243	GGC	ARHGAP28	-	NULL	ENSG00000088756		0.363	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0.00	55	0	G	XM_371108		6873435	+1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	missense	20.00	44	11	SNP	1.000	T
ARHGAP33	115703	genome.wustl.edu	37	19	36278975	36278975	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36278975G>A	ENST00000007510.4	+	21	3652	c.3508G>A	c.(3508-3510)Gtc>Atc	p.V1170I	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.V1009I|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.V1006I|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1170					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCCCCTCTACGTCAACCTAGC	0.682																																																	0													33.0	35.0	34.0					19																	36278975		2200	4296	6496	SO:0001583	missense	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3508G>A	19.37:g.36278975G>A	ENSP00000007510:p.Val1170Ile		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.V1170I	ENST00000007510.4	37	c.3508		19	.	.	.	.	.	.	.	.	.	.	g	15.91	2.971889	0.53614	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.19250	2.76;2.16;2.5	4.78	3.65	0.41850	.	0.000000	0.41396	D	0.000894	T	0.16041	0.0386	N	0.19112	0.55	0.27682	N	0.946408	P;P	0.51653	0.947;0.947	P;B	0.44811	0.461;0.362	T	0.06862	-1.0803	10	0.39692	T	0.17	.	13.6405	0.62249	0.0:0.1567:0.8432:0.0	.	1006;1009	O14559-10;O14559-11	.;.	I	1170;1009;1006	ENSP00000007510:V1170I;ENSP00000320038:V1009I;ENSP00000368227:V1006I	ENSP00000007510:V1170I	V	+	1	0	ARHGAP33	40970815	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	3.929000	0.56514	2.382000	0.81193	0.401000	0.26515	GTC	ARHGAP33	-	NULL	ENSG00000004777		0.682	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		-	0.00	21	0	G	NM_052948		36278975	+1	tier1	-	no_errors	ENST00000007510	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	A
ARHGAP35	2909	genome.wustl.edu	37	19	47424426	47424426	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:47424426C>T	ENST00000404338.3	+	1	2494	c.2494C>T	c.(2494-2496)Cgg>Tgg	p.R832W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	832					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GCACAAGAAGCGGATTGAACT	0.423																																																	0													171.0	160.0	164.0					19																	47424426		1914	4122	6036	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2494C>T	19.37:g.47424426C>T	ENSP00000385720:p.Arg832Trp		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R832W	ENST00000404338.3	37	c.2494	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501574	0.64298	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.48836	0.8	5.49	5.49	0.81192	.	0.207880	0.50627	D	0.000116	T	0.67183	0.2866	M	0.62723	1.935	0.54753	D	0.999983	D	0.89917	1.0	D	0.71870	0.975	T	0.68796	-0.5314	10	0.87932	D	0	-22.015	18.5057	0.90896	0.0:1.0:0.0:0.0	.	832	Q9NRY4-2	.	W	832	ENSP00000385720:R832W	ENSP00000324820:R832W	R	+	1	2	ARHGAP35	52116266	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.930000	0.56522	2.743000	0.94032	0.655000	0.94253	CGG	ARHGAP35	-	NULL	ENSG00000160007		0.423	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	-	0.00	89	0	C	NM_004491		47424426	+1	tier1	-	no_errors	ENST00000404338	ensembl	human	known	74_37	missense	30.14	51	22	SNP	1.000	T
ARHGAP36	158763	genome.wustl.edu	37	X	130217937	130217937	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:130217937G>A	ENST00000276211.5	+	4	894	c.549G>A	c.(547-549)ggG>ggA	p.G183G	ARHGAP36_ENST00000370921.1_Silent_p.G47G|ARHGAP36_ENST00000370922.1_Silent_p.G171G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	183	Arg-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTCGCCGTGGGCGTCGAGTGA	0.627																																																	0													21.0	22.0	22.0					X																	130217937		2202	4296	6498	SO:0001819	synonymous_variant	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.549G>A	X.37:g.130217937G>A			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G183	ENST00000276211.5	37	c.549	CCDS14628.1	X																																																																																			ARHGAP36	-	NULL	ENSG00000147256		0.627	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	-	0.00	61	0	G	NM_144967		130217937	+1	tier1	-	no_errors	ENST00000276211	ensembl	human	known	74_37	silent	23.91	35	11	SNP	0.498	A
ARHGEF15	22899	genome.wustl.edu	37	17	8222397	8222397	+	Silent	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:8222397T>G	ENST00000361926.3	+	13	2216	c.2106T>G	c.(2104-2106)tcT>tcG	p.S702S	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Silent_p.S702S|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	702					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CGGATCCATCTGGACCCCCTA	0.617																																																	0													82.0	87.0	85.0					17																	8222397		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2106T>G	17.37:g.8222397T>G			A8K6G1|Q8N449|Q9H8B4	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.S702	ENST00000361926.3	37	c.2106	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL	ENSG00000198844		0.617	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2		0.00	32	0	T	NM_173728		8222397	+1			no_errors	ENST00000361926	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.998	G
ARHGEF26	26084	genome.wustl.edu	37	3	153840548	153840548	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:153840548C>T	ENST00000356448.4	+	2	1051	c.767C>T	c.(766-768)gCc>gTc	p.A256V	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A256V|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.A256V|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	256					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						AAGAGTCTGGCCTCGGAAATT	0.532																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)												0													16.0	19.0	18.0					3																	153840548		1854	4096	5950	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.767C>T	3.37:g.153840548C>T	ENSP00000348828:p.Ala256Val		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.A256V	ENST00000356448.4	37	c.767	CCDS46938.1	3	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579173	0.86645	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.75154	-0.91;-0.91;0.52	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.83622	0.5294	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.85154	0.0988	10	0.72032	D	0.01	-18.6306	18.3168	0.90224	0.0:1.0:0.0:0.0	.	256;256	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	V	256	ENSP00000348828:A256V;ENSP00000423418:A256V;ENSP00000423295:A256V	ENSP00000348828:A256V	A	+	2	0	ARHGEF26	155323238	1.000000	0.71417	0.998000	0.56505	0.568000	0.35870	3.896000	0.56266	2.403000	0.81681	0.655000	0.94253	GCC	ARHGEF26	-	NULL	ENSG00000114790		0.532	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3	-	0.00	96	0	C	NM_015595		153840548	+1	tier1	-	no_errors	ENST00000356448	ensembl	human	known	74_37	missense	26.51	61	22	SNP	1.000	T
ARHGEF26	26084	genome.wustl.edu	37	3	153935686	153935686	+	Missense_Mutation	SNP	G	G	A	rs374617836		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:153935686G>A	ENST00000356448.4	+	10	2158	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.R625Q|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	625					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						GAGGGCGCCCGGAAGATGGAA	0.428																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)												0								G	GLN/ARG	1,3717		0,1,1858	94.0	89.0	91.0		1874	5.1	1.0	3		91	2,8206		0,2,4102	no	missense	ARHGEF26	NM_015595.3	43	0,3,5960	AA,AG,GG		0.0244,0.0269,0.0252	probably-damaging	625/872	153935686	3,11923	1859	4104	5963	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.1874G>A	3.37:g.153935686G>A	ENSP00000348828:p.Arg625Gln		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.R625Q	ENST00000356448.4	37	c.1874	CCDS46938.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.341361	0.95783	2.69E-4	2.44E-4	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.34859	1.34;1.34	5.05	5.05	0.67936	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	L	0.46741	1.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	T	0.38802	-0.9644	10	0.21540	T	0.41	-22.7406	18.7816	0.91934	0.0:0.0:1.0:0.0	.	625;625	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	Q	625	ENSP00000348828:R625Q;ENSP00000423418:R625Q	ENSP00000348828:R625Q	R	+	2	0	ARHGEF26	155418376	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.218000	0.77991	2.504000	0.84457	0.655000	0.94253	CGG	ARHGEF26	-	superfamily_DH-domain	ENSG00000114790		0.428	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3	-	0.00	104	0	G	NM_015595		153935686	+1	tier1	-	no_errors	ENST00000356448	ensembl	human	known	74_37	missense	14.53	100	17	SNP	1.000	A
ARHGEF28	64283	genome.wustl.edu	37	5	73181702	73181702	+	Missense_Mutation	SNP	G	G	A	rs199636589		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:73181702G>A	ENST00000426542.2	+	24	3103	c.3083G>A	c.(3082-3084)cGc>cAc	p.R1028H	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R1028H|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.R1028H|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R1028H|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R715H|ARHGEF28_ENST00000512883.1_5'Flank|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R1028H|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R1028H			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1028	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										AAAGACTTACGCAAAGCGCTT	0.318																																																	0								G	HIS/ARG,HIS/ARG	1,3629		0,1,1814	49.0	47.0	48.0		3083,3083	4.9	1.0	5		48	3,8159		0,3,4078	yes	missense,missense	RGNEF	NM_001080479.2,NM_001177693.1	29,29	0,4,5892	AA,AG,GG		0.0368,0.0275,0.0339	benign,benign	1028/1732,1028/1706	73181702	4,11788	1815	4081	5896	SO:0001583	missense	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3083G>A	5.37:g.73181702G>A	ENSP00000412175:p.Arg1028His		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R1028H	ENST00000426542.2	37	c.3083	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517728	0.44763	2.75E-4	3.68E-4	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.74	4.86	0.63082	Dbl homology (DH) domain (5);	.	.	.	.	T	0.46132	0.1377	N	0.14661	0.345	0.25095	N	0.990826	B;B;B;B	0.10296	0.001;0.001;0.002;0.003	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.31668	-0.9935	9	0.46703	T	0.11	.	12.4145	0.55486	0.1322:0.0:0.8678:0.0	.	715;1028;1028;1028	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	H	1028;1028;1028;1028;1028;1028;715	ENSP00000296794:R1028H;ENSP00000441913:R1028H;ENSP00000441436:R1028H;ENSP00000287898:R1028H;ENSP00000411459:R1028H;ENSP00000412175:R1028H;ENSP00000296799:R715H	ENSP00000287898:R1028H	R	+	2	0	RP11-428C6.1	73217458	0.999000	0.42202	0.994000	0.49952	0.658000	0.38924	3.015000	0.49599	2.702000	0.92279	0.655000	0.94253	CGC	ARHGEF28	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000214944		0.318	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1		0.00	22	0	G			73181702	+1			no_errors	ENST00000545377	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.998	A
ARHGEF33	100271715	genome.wustl.edu	37	2	39164523	39164523	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:39164523C>A	ENST00000536934.1	+	7	698	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	RN7SL96P_ENST00000582641.1_RNA|ARHGEF33_ENST00000409978.1_Missense_Mutation_p.L205I|ARHGEF33_ENST00000398800.4_Missense_Mutation_p.L205I			A8MVX0	ARG33_HUMAN	Rho guanine nucleotide exchange factor (GEF) 33	205							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|pancreas(1)|prostate(1)	5						CAAGTCTTGCCTCTCGGCTGA	0.512																																																	0													55.0	47.0	49.0					2																	39164523		692	1591	2283	SO:0001583	missense	0				CCDS46263.1, CCDS46263.2	2p22.1	2012-07-24			ENSG00000214694	ENSG00000214694		"""Rho guanine nucleotide exchange factors"""	37252	protein-coding gene	gene with protein product							Standard	NM_001145451		Approved		uc021vgd.1	A8MVX0	OTTHUMG00000153540	ENST00000536934.1:c.613C>A	2.37:g.39164523C>A	ENSP00000445586:p.Leu205Ile		J3KPX2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_Prefoldin,smart_DH-domain,pfscan_DH-domain	p.L205I	ENST00000536934.1	37	c.613		2	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908991	0.33721	.	.	ENSG00000214694	ENST00000409978;ENST00000398800;ENST00000536934	T;T;T	0.46819	0.87;0.87;0.86	5.32	1.93	0.25924	.	0.120895	0.31233	U	0.008011	T	0.29093	0.0723	L	0.27053	0.805	0.20563	N	0.99989	B	0.14438	0.01	B	0.09377	0.004	T	0.14448	-1.0472	10	0.46703	T	0.11	-45.1648	5.2685	0.15613	0.4587:0.412:0.0:0.1293	.	205	A8MVX0	ARG33_HUMAN	I	205	ENSP00000387020:L205I;ENSP00000381780:L205I;ENSP00000445586:L205I	ENSP00000381780:L205I	L	+	1	0	ARHGEF33	39018027	0.030000	0.19436	0.997000	0.53966	0.912000	0.54170	-0.092000	0.11129	0.560000	0.29169	0.655000	0.94253	CTC	ARHGEF33	-	NULL	ENSG00000214694		0.512	ARHGEF33-202	KNOWN	basic	protein_coding	ARHGEF33	HGNC	protein_coding		-	0.00	26	0	C	NM_001145451		39164523	+1	tier1	-	no_errors	ENST00000398800	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.700	A
ARHGEF35	445328	genome.wustl.edu	37	7	143884145	143884145	+	Silent	SNP	C	C	T	rs568698658	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:143884145C>T	ENST00000378115.2	-	2	1461	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L	ARHGEF35_ENST00000543357.1_Silent_p.L444L	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	444										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTGCGGGGGACAGTTCCTCAG	0.562													-|||	3	0.000599042	0.0023	0.0	5008	,	,		14096	0.0		0.0	False		,,,				2504	0.0																0													25.0	26.0	26.0					7																	143884145		2126	4128	6254	SO:0001819	synonymous_variant	0			AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1332G>A	7.37:g.143884145C>T			Q6ZUI2	Silent	SNP	NULL	p.L444	ENST00000378115.2	37	c.1332	CCDS34770.1	7																																																																																			ARHGEF35	-	NULL	ENSG00000213214		0.562	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF35	HGNC	protein_coding	OTTHUMT00000349997.1		0.00	66	0	C	NM_001003702		143884145	-1			no_errors	ENST00000378115	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.045	T
ARHGEF40	55701	genome.wustl.edu	37	14	21542955	21542956	+	In_Frame_Ins	INS	-	-	GAG	rs545146973|rs377320500	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:21542955_21542956insGAG	ENST00000298694.4	+	3	1193_1194	c.1066_1067insGAG	c.(1066-1068)aga>aGAGga	p.362_363insG	ARHGEF40_ENST00000298693.3_In_Frame_Ins_p.362_363insG			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	362	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGGGGAGCTTAGAGGAGGAGGA	0.629																																																	0																																										SO:0001652	inframe_insertion	0				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1082_1084dupGAG	14.37:g.21542962_21542964dupGAG	ENSP00000298694:p.Gly363_Gly364dup		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	In_Frame_Ins	INS	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.360in_frame_insG	ENST00000298694.4	37	c.1066_1067	CCDS32041.1	14																																																																																			ARHGEF40	-	NULL	ENSG00000165801		0.629	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	HGNC	protein_coding	OTTHUMT00000413122.1		0.00	41	0	-			21542956	+1	tier1		no_errors	ENST00000298694	ensembl	human	known	74_37	in_frame_ins	18.60	35	8	INS	0.761:0.797	GAG
ARID1B	57492	genome.wustl.edu	37	6	157527517	157527517	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:157527517G>A	ENST00000350026.5	+	19	5204	c.5203G>A	c.(5203-5205)Gag>Aag	p.E1735K	ARID1B_ENST00000275248.4_Missense_Mutation_p.E1730K|ARID1B_ENST00000367148.1_Missense_Mutation_p.E1788K|ARID1B_ENST00000346085.5_Missense_Mutation_p.E1748K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1735					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGAGGAGGATGAGGAGGAAGA	0.552																																																	0													112.0	112.0	112.0					6																	157527517		2203	4296	6499	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5203G>A	6.37:g.157527517G>A	ENSP00000055163:p.Glu1735Lys		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E1788K	ENST00000350026.5	37	c.5362	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987381	0.35036	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02280	4.7;4.69;4.73;4.74;4.36	5.16	5.16	0.70880	Armadillo-like helical (1);	0.570303	0.19615	N	0.110022	T	0.01156	0.0038	L	0.39020	1.185	0.54753	D	0.999985	B;P;P	0.35272	0.361;0.493;0.493	B;B;B	0.31101	0.058;0.124;0.124	T	0.66056	-0.6018	10	0.20046	T	0.44	.	18.6564	0.91455	0.0:0.0:1.0:0.0	.	1735;1748;1730	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	1748;1735;1788;1730;1257	ENSP00000344546:E1748K;ENSP00000055163:E1735K;ENSP00000356116:E1788K;ENSP00000275248:E1730K;ENSP00000412835:E1257K	ENSP00000275248:E1730K	E	+	1	0	ARID1B	157569209	1.000000	0.71417	0.094000	0.20943	0.370000	0.29829	6.726000	0.74758	2.394000	0.81467	0.467000	0.42956	GAG	ARID1B	-	NULL	ENSG00000049618		0.552	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0.00	42	0	G	NM_020732		157527517	+1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.987	A
ARID3B	10620	genome.wustl.edu	37	15	74883534	74883534	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:74883534C>T	ENST00000346246.5	+	6	1155	c.924C>T	c.(922-924)gcC>gcT	p.A308A		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	308	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						AGAAGAAAGCCTTGAGTTCCC	0.557																																																	0													110.0	122.0	118.0					15																	74883534		2197	4293	6490	SO:0001819	synonymous_variant	0				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.924C>T	15.37:g.74883534C>T			O95443|Q59HC9|Q6P9C9	Silent	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.A308	ENST00000346246.5	37	c.924	CCDS10264.1	15																																																																																			ARID3B	-	superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd	ENSG00000179361		0.557	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	HGNC	protein_coding	OTTHUMT00000280688.2	-	0.00	82	0	C	NM_006465		74883534	+1	tier1	-	no_errors	ENST00000346246	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.975	T
ARID4B	51742	genome.wustl.edu	37	1	235345232	235345233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:235345232_235345233insT	ENST00000264183.3	-	20	3498_3499	c.3001_3002insA	c.(3001-3003)acafs	p.T1001fs	ARID4B_ENST00000366603.2_Frame_Shift_Ins_p.T1001fs|ARID4B_ENST00000349213.3_Frame_Shift_Ins_p.T915fs|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1001				T -> Q (in Ref. 3; AAF23433). {ECO:0000305}.	histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GACCTCTACTGTTTTTTCTTCA	0.436																																																	0																																										SO:0001589	frameshift_variant	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3002dupA	1.37:g.235345238_235345238dupT	ENSP00000264183:p.Thr1001fs		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Ins	INS	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T1001fs	ENST00000264183.3	37	c.3002_3001	CCDS31061.1	1																																																																																			ARID4B	-	NULL	ENSG00000054267		0.436	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3		0.00	101	0	-	NM_016374		235345233	-1	tier1		no_errors	ENST00000264183	ensembl	human	known	74_37	frame_shift_ins	28.87	69	28	INS	0.001:0.000	T
ARL10	285598	genome.wustl.edu	37	5	175795902	175795902	+	Missense_Mutation	SNP	C	C	T	rs140105577		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:175795902C>T	ENST00000310389.5	+	3	574	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	160					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGACCGACTGCGGCTGCCCTG	0.627																																																	0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	73.0	73.0	73.0		478	4.3	0.6	5	dbSNP_134	73	0,8600		0,0,4300	no	missense	ARL10	NM_173664.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	160/245	175795902	1,13005	2203	4300	6503	SO:0001583	missense	0			BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.478C>T	5.37:g.175795902C>T	ENSP00000308496:p.Arg160Trp			Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR	p.R160W	ENST00000310389.5	37	c.478	CCDS4400.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.56|17.56	3.421099|3.421099	0.62622|0.62622	2.27E-4|2.27E-4	0.0|0.0	ENSG00000175414|ENSG00000175414	ENST00000514533|ENST00000310389	.|T	.|0.79554	.|-1.28	5.16|5.16	4.27|4.27	0.50696|0.50696	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91981|0.91981	0.7460|0.7460	H|H	0.94925|0.94925	3.6|3.6	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|0.962;1.0	.|B;D	.|0.97110	.|0.387;1.0	D|D	0.93817|0.93817	0.7115|0.7115	5|10	.|0.87932	.|D	.|0	-40.0923|-40.0923	13.6289|13.6289	0.62183|0.62183	0.1614:0.8386:0.0:0.0|0.1614:0.8386:0.0:0.0	.|.	.|160;160	.|Q8N8L6;Q6PCE2	.|ARL10_HUMAN;.	V|W	17|160	.|ENSP00000308496:R160W	.|ENSP00000308496:R160W	A|R	+|+	2|1	0|2	ARL10|ARL10	175728508|175728508	0.941000|0.941000	0.31946|0.31946	0.585000|0.585000	0.28666|0.28666	0.154000|0.154000	0.21943|0.21943	2.105000|2.105000	0.41825|0.41825	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	GCG|CGG	ARL10	-	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR	ENSG00000175414		0.627	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL10	HGNC	protein_coding	OTTHUMT00000253145.2	-	0.00	103	0	C	NM_173664		175795902	+1	tier1	rs140105577	no_errors	ENST00000310389	ensembl	human	known	74_37	missense	17.54	94	20	SNP	0.996	T
ARL13B	200894	genome.wustl.edu	37	3	93768343	93768343	+	Missense_Mutation	SNP	C	C	T	rs369850890		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:93768343C>T	ENST00000394222.3	+	8	1393	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000303097.7_Missense_Mutation_p.T266M|ARL13B_ENST00000539730.1_Missense_Mutation_p.T94M|ARL13B_ENST00000471138.1_Missense_Mutation_p.T373M|ARL13B_ENST00000535334.1_Missense_Mutation_p.T270M	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	373	Pro-rich.				cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GAGAGTCCAACGCCACCCCCA	0.373																																																	0								C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	80.0	81.0	81.0		1118,809,797,1118	4.2	0.9	3		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ARL13B	NM_001174150.1,NM_001174151.1,NM_144996.3,NM_182896.2	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	373/429,270/326,266/322,373/429	93768343	1,13005	2203	4300	6503	SO:0001583	missense	0			AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1118C>T	3.37:g.93768343C>T	ENSP00000377769:p.Thr373Met		D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.T373M	ENST00000394222.3	37	c.1118	CCDS2925.1	3	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113657	0.56398	0.0	1.16E-4	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138;ENST00000539730	T;T;T;T;T	0.67171	1.56;-0.25;-0.0;-0.0;0.75	5.12	4.2	0.49525	.	0.185256	0.45867	D	0.000328	T	0.77558	0.4148	M	0.66939	2.045	0.80722	D	1	D;P;D;D	0.76494	0.995;0.598;0.999;0.962	P;B;P;P	0.61397	0.8;0.057;0.888;0.558	T	0.80797	-0.1222	10	0.72032	D	0.01	-22.0859	15.2234	0.73330	0.0:0.859:0.141:0.0	.	270;373;266;373	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	M	270;266;373;373;94	ENSP00000445145:T270M;ENSP00000306225:T266M;ENSP00000377769:T373M;ENSP00000420780:T373M;ENSP00000437977:T94M	ENSP00000306225:T266M	T	+	2	0	ARL13B	95251033	0.123000	0.22298	0.869000	0.34112	0.474000	0.32979	1.925000	0.40074	2.387000	0.81309	0.591000	0.81541	ACG	ARL13B	-	NULL	ENSG00000169379		0.373	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ARL13B	HGNC	protein_coding	OTTHUMT00000352904.1	-	0.00	80	0	C	NM_182896		93768343	+1	tier1	-	no_errors	ENST00000394222	ensembl	human	known	74_37	missense	30.19	37	16	SNP	0.956	T
ARPC1A	10552	genome.wustl.edu	37	7	98963741	98963742	+	3'UTR	INS	-	-	T	rs535574156|rs555234841	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:98963741_98963742insT	ENST00000262942.5	+	0	1426_1427				ARPC1A_ENST00000432884.2_Intron	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa						actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTTTGTTTGTTTTTTTGCGA	0.327																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.*190->T	7.37:g.98963748_98963748dupT			A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	RNA	INS	-	NULL	ENST00000262942.5	37	NULL	CCDS5660.1	7																																																																																			ARPC1A	-	-	ENSG00000241685		0.327	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC1A	HGNC	protein_coding	OTTHUMT00000335908.1		0.00	69	0	-	NM_006409		98963742	+1	tier1		no_errors	ENST00000463009	ensembl	human	known	74_37	rna	31.48	37	17	INS	0.031:0.995	T
ARPC5	10092	genome.wustl.edu	37	1	183595641	183595641	+	3'UTR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:183595641delT	ENST00000359856.6	-	0	1548				ARPC5_ENST00000367534.1_Intron|ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000294742.6_3'UTR	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa						actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						TGGCAGTTTCTTTTTTTAGAA	0.338																																					Melanoma(136;1596 1789 3041 4830 41075)												0																																										SO:0001624	3_prime_UTR_variant	0			AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.*1026A>-	1.37:g.183595641delT			A6NEC4|Q6PG42	RNA	DEL	-	NULL	ENST00000359856.6	37	NULL	CCDS1357.1	1																																																																																			ARPC5	-	-	ENSG00000162704		0.338	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARPC5	HGNC	protein_coding	OTTHUMT00000085477.1		0.00	34	0	T	NM_005717		183595641	-1	tier1		no_errors	ENST00000462965	ensembl	human	known	74_37	rna	12.90	27	4	DEL	0.000	-
ARSJ	79642	genome.wustl.edu	37	4	114823494	114823494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:114823494delT	ENST00000315366.7	-	2	2602	c.1736delA	c.(1735-1737)aagfs	p.K582fs	ARSJ_ENST00000541197.1_Frame_Shift_Del_p.K582fs	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	582					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.K579fs*>21(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		tttcttcttcttttttttgct	0.388																																																	1	Deletion - Frameshift(1)	large_intestine(1)											66.0	60.0	61.0					4																	114823494		1854	4092	5946	SO:0001589	frameshift_variant	0				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1736delA	4.37:g.114823494delT	ENSP00000320219:p.Lys582fs		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Frame_Shift_Del	DEL	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.K579fs	ENST00000315366.7	37	c.1736	CCDS43264.1	4																																																																																			ARSJ	-	NULL	ENSG00000180801		0.388	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1		0.00	29	0	T	NM_024590		114823494	-1	tier1		no_errors	ENST00000315366	ensembl	human	known	74_37	frame_shift_del	17.39	19	4	DEL	0.628	-
ARV1	64801	genome.wustl.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:231131567delA	ENST00000310256.2	+	4	567	c.510delA	c.(508-510)gcafs	p.A170fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383																																																	0													81.0	79.0	80.0					1																	231131567		2203	4300	6503	SO:0001589	frameshift_variant	0			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.510delA	1.37:g.231131567delA	ENSP00000312458:p.Ala170fs		A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Frame_Shift_Del	DEL	pfam_Arv1	p.K173fs	ENST00000310256.2	37	c.510	CCDS1589.1	1																																																																																			ARV1	-	pfam_Arv1	ENSG00000173409		0.383	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARV1	HGNC	protein_coding	OTTHUMT00000092362.2		0.00	56	0	A	NM_022786		231131567	+1	tier1		no_errors	ENST00000310256	ensembl	human	known	74_37	frame_shift_del	24.49	37	12	DEL	0.000	-
ASCC2	84164	genome.wustl.edu	37	22	30221678	30221678	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:30221678C>T	ENST00000397771.2	-	4	350	c.173G>A	c.(172-174)cGc>cAc	p.R58H	ASCC2_ENST00000542393.1_Intron|ASCC2_ENST00000307790.3_Missense_Mutation_p.R58H			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	58					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GAAGGTGGCGCGTTCCAGGTA	0.512																																																	0													133.0	118.0	123.0					22																	30221678		2203	4300	6503	SO:0001583	missense	0			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.173G>A	22.37:g.30221678C>T	ENSP00000380877:p.Arg58His		B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.R58H	ENST00000397771.2	37	c.173	CCDS13869.1	22	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751896	0.49362	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000431535;ENST00000412689	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.98	5.98	0.97165	.	0.109078	0.64402	D	0.000006	T	0.22742	0.0549	N	0.12471	0.22	0.80722	D	1	B	0.32188	0.359	B	0.26202	0.067	T	0.06899	-1.0801	10	0.17832	T	0.49	-6.81	19.4315	0.94772	0.0:1.0:0.0:0.0	.	58	Q9H1I8	ASCC2_HUMAN	H	58	ENSP00000305502:R58H;ENSP00000380877:R58H;ENSP00000412382:R58H;ENSP00000417032:R58H	ENSP00000305502:R58H	R	-	2	0	ASCC2	28551678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.233000	0.58651	2.838000	0.97847	0.655000	0.94253	CGC	ASCC2	-	NULL	ENSG00000100325		0.512	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	-	0.00	73	0	C	NM_032204		30221678	-1	tier1	-	no_errors	ENST00000307790	ensembl	human	known	74_37	missense	10.00	62	7	SNP	1.000	T
ASCC3	10973	genome.wustl.edu	37	6	101296336	101296336	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:101296336delA	ENST00000369162.2	-	4	833	c.489delT	c.(487-489)tttfs	p.F163fs	ASCC3_ENST00000522650.1_Frame_Shift_Del_p.F163fs	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	163					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATTTTTACCAAAAAAAACCC	0.333																																																	0													59.0	54.0	56.0					6																	101296336		2203	4299	6502	SO:0001589	frameshift_variant	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.489delT	6.37:g.101296336delA	ENSP00000358159:p.Phe163fs		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Frame_Shift_Del	DEL	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F163fs	ENST00000369162.2	37	c.489	CCDS5046.1	6																																																																																			ASCC3	-	NULL	ENSG00000112249		0.333	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2		0.00	26	0	A	NM_006828		101296336	-1	tier1		no_errors	ENST00000369162	ensembl	human	known	74_37	frame_shift_del	23.53	13	4	DEL	1.000	-
ASGR1	432	genome.wustl.edu	37	17	7080615	7080615	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7080615C>T	ENST00000269299.3	-	3	500	c.101G>A	c.(100-102)cGt>cAt	p.R34H	ASGR1_ENST00000572879.1_5'UTR|ASGR1_ENST00000574388.1_Intron|ASGR1_ENST00000380920.4_5'UTR	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	34					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GGAGCAGAGACGCTGCAGGAG	0.667											OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													51.0	58.0	56.0					17																	7080615		2202	4300	6502	SO:0001583	missense	0				CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.101G>A	17.37:g.7080615C>T	ENSP00000269299:p.Arg34His	639	I3L1X1	Missense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.R34H	ENST00000269299.3	37	c.101	CCDS11089.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197582	0.79015	.	.	ENSG00000141505	ENST00000269299	T	0.34859	1.34	4.92	4.92	0.64577	Hepatic lectin, N-terminal (1);	0.000000	0.48767	D	0.000174	T	0.41373	0.1156	M	0.78456	2.415	0.80722	D	1	B	0.21753	0.06	B	0.18871	0.023	T	0.41070	-0.9529	10	0.59425	D	0.04	.	13.486	0.61366	0.0:1.0:0.0:0.0	.	34	P07306	ASGR1_HUMAN	H	34	ENSP00000269299:R34H	ENSP00000269299:R34H	R	-	2	0	ASGR1	7021339	0.366000	0.25014	0.215000	0.23724	0.877000	0.50540	3.347000	0.52200	2.544000	0.85801	0.561000	0.74099	CGT	ASGR1	-	pfam_Lectin_N	ENSG00000141505		0.667	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASGR1	HGNC	protein_coding	OTTHUMT00000220004.3	-	0.00	63	0	C	NM_001671		7080615	-1	tier1	-	no_errors	ENST00000269299	ensembl	human	known	74_37	missense	18.18	54	12	SNP	0.603	T
ASIC2	40	genome.wustl.edu	37	17	31618963	31618963	+	Intron	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:31618963delC	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Frame_Shift_Del_p.G57fs	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GCGATGGCCGCCCCCTGCGGG	0.806																																																	0													5.0	6.0	6.0					17																	31618963		1945	3817	5762	SO:0001627	intron_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179878G>-	17.37:g.31618963delC			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Del	DEL	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.R58fs	ENST00000359872.6	37	c.171	CCDS42296.1	17																																																																																			ASIC2	-	NULL	ENSG00000108684		0.806	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1		0.00	35	0	C	NM_183377, NM_001094		31618963	-1	tier1		no_errors	ENST00000225823	ensembl	human	known	74_37	frame_shift_del	9.38	29	3	DEL	0.990	-
ASMT	438	genome.wustl.edu	37	X	1761874	1761874	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:1761874A>G	ENST00000381229.4	+	8	1041	c.1005A>G	c.(1003-1005)ggA>ggG	p.G335G	ASMT_ENST00000381233.3_Silent_p.G288G|ASMT_ENST00000381241.3_Silent_p.G363G			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	335					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	AGAAAACAGGAGCCATTTATG	0.458																																																	0													175.0	164.0	168.0					X																	1761874		2203	4296	6499	SO:0001819	synonymous_variant	0			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.1005A>G	X.37:g.1761874A>G			B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	pfam_O_MeTrfase_2,pirsf_COMT	p.G363	ENST00000381229.4	37	c.1089		X																																																																																			ASMT	-	pirsf_COMT	ENSG00000196433		0.458	ASMT-002	KNOWN	basic|appris_principal	protein_coding	ASMT	HGNC	protein_coding	OTTHUMT00000055612.1	-	0.00	150	0	A	NM_004043		1761874	+1	tier1	-	no_errors	ENST00000381241	ensembl	human	known	74_37	silent	7.41	100	8	SNP	0.762	G
ASPDH	554235	genome.wustl.edu	37	19	51015803	51015803	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:51015803C>T	ENST00000389208.4	-	5	528	c.467G>A	c.(466-468)gGc>gAc	p.G156D	JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.G51D|ASPDH_ENST00000597030.1_5'UTR|JOSD2_ENST00000595669.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	156					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						AAGCCGGAAGCCATCGGGGTG	0.672																																																	0													16.0	22.0	20.0					19																	51015803		2201	4298	6499	SO:0001583	missense	0				CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.467G>A	19.37:g.51015803C>T	ENSP00000373860:p.Gly156Asp		Q6NZ37	Missense_Mutation	SNP	pfam_Asp_DH,pfam_Asp/hSer_DH_NAD-bd	p.G156D	ENST00000389208.4	37	c.467	CCDS46153.1	19	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469847	0.84533	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.45276	0.95;0.9	3.9	3.9	0.45041	.	0.077999	0.52532	D	0.000072	T	0.50565	0.1623	L	0.36672	1.1	0.43714	D	0.996186	D;D	0.76494	0.999;0.981	D;P	0.68765	0.96;0.813	T	0.50931	-0.8769	10	0.52906	T	0.07	-18.7047	11.763	0.51914	0.0:1.0:0.0:0.0	.	156;51	A6ND91;A6ND91-2	ASPD_HUMAN;.	D	51;156	ENSP00000366114:G51D;ENSP00000373860:G156D	ENSP00000366114:G51D	G	-	2	0	ASPDH	55707615	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	2.638000	0.46562	1.908000	0.55244	0.561000	0.74099	GGC	ASPDH	-	NULL	ENSG00000204653		0.672	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPDH	HGNC	protein_coding	OTTHUMT00000464861.1	-	0.00	76	0	C	NM_001024656		51015803	-1	tier1	-	no_errors	ENST00000389208	ensembl	human	known	74_37	missense	8.33	66	6	SNP	0.999	T
ASPHD1	253982	genome.wustl.edu	37	16	29912622	29912622	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:29912622C>T	ENST00000308748.5	+	1	582	c.330C>T	c.(328-330)agC>agT	p.S110S	SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank|ASPHD1_ENST00000483405.1_Intron|SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	110	Gly-rich.				peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GGGCTGGGAGCCGAGCTGGGG	0.692																																																	0													35.0	41.0	39.0					16																	29912622		2138	4244	6382	SO:0001819	synonymous_variant	0			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.330C>T	16.37:g.29912622C>T			A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.S110	ENST00000308748.5	37	c.330	CCDS10660.1	16																																																																																			ASPHD1	-	NULL	ENSG00000174939		0.692	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPHD1	HGNC	protein_coding	OTTHUMT00000255163.2	-	0.00	32	0	C	NM_181718		29912622	+1	tier1	-	no_errors	ENST00000308748	ensembl	human	known	74_37	silent	34.48	19	10	SNP	0.827	T
ASPHD2	57168	genome.wustl.edu	37	22	26830127	26830127	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:26830127C>T	ENST00000215906.5	+	2	984	c.546C>T	c.(544-546)gaC>gaT	p.D182D		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	182					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TCTCCCGGGACGCACAGAAAC	0.592																																																	0													42.0	43.0	43.0					22																	26830127		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.546C>T	22.37:g.26830127C>T			B2RCH3|Q7L0W3|Q9NSN3	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.D182	ENST00000215906.5	37	c.546	CCDS13834.2	22																																																																																			ASPHD2	-	NULL	ENSG00000128203		0.592	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	-	0.00	51	0	C	NM_020437		26830127	+1	tier1	-	no_errors	ENST00000215906	ensembl	human	known	74_37	silent	16.98	44	9	SNP	0.234	T
ASTE1	28990	genome.wustl.edu	37	3	130733047	130733048	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:130733047_130733048delTT	ENST00000264992.3	-	6	2334_2335	c.1893_1894delAA	c.(1891-1896)aaaaggfs	p.R632fs	ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000504381.1_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Del_p.R657fs|ATP2C1_ENST00000328560.8_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTCTTCTGCCTTTTTTTTTTTG	0.406																																																	2	Deletion - Frameshift(2)	ovary(2)																																								SO:0001589	frameshift_variant	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1893_1894delAA	3.37:g.130733055_130733056delTT	ENSP00000264992:p.Arg632fs		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Del	DEL	pfam_XPG_DNA_repair_N	p.R632fs	ENST00000264992.3	37	c.1894_1893	CCDS3068.1	3																																																																																			ASTE1	-	NULL	ENSG00000034533		0.406	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1		0.00	40	0	TT	NM_014065		130733048	-1	tier1		no_errors	ENST00000264992	ensembl	human	known	74_37	frame_shift_del	47.37	20	18	DEL	0.014:0.001	-
ATF6B	1388	genome.wustl.edu	37	6	32095989	32095989	+	5'UTR	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:32095989delC	ENST00000375203.3	-	0	28				ATF6B_ENST00000375201.4_5'UTR|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta						response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CGCCATCTTTCCCCCCCACCC	0.602																																																	0													42.0	41.0	41.0					6																	32095989		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.-5G>-	6.37:g.32095989delC			B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	RNA	DEL	-	NULL	ENST00000375203.3	37	NULL	CCDS4737.1	6																																																																																			ATF6B	-	-	ENSG00000213676		0.602	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2		0.00	60	0	C			32095989	-1	tier1		no_errors	ENST00000468502	ensembl	human	known	74_37	rna	16.33	41	8	DEL	0.565	-
ATG2A	23130	genome.wustl.edu	37	11	64677266	64677266	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64677266C>A	ENST00000377264.3	-	14	2106	c.1994G>T	c.(1993-1995)cGg>cTg	p.R665L	ATG2A_ENST00000421419.2_Missense_Mutation_p.R665L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	665					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CTGCTCAGCCCGCACGGCCTG	0.701																																																	0													25.0	29.0	28.0					11																	64677266		2201	4296	6497	SO:0001583	missense	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1994G>T	11.37:g.64677266C>A	ENSP00000366475:p.Arg665Leu		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R665L	ENST00000377264.3	37	c.1994	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181266	0.78677	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.14391	2.51;2.51	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.30603	0.0770	L	0.55481	1.735	0.48901	D	0.999723	D	0.89917	1.0	D	0.81914	0.995	T	0.01508	-1.1337	10	0.72032	D	0.01	.	12.4406	0.55623	0.0:1.0:0.0:0.0	.	665	Q2TAZ0	ATG2A_HUMAN	L	665	ENSP00000410522:R665L;ENSP00000366475:R665L	ENSP00000366475:R665L	R	-	2	0	ATG2A	64433842	1.000000	0.71417	0.987000	0.45799	0.896000	0.52359	6.069000	0.71209	2.386000	0.81285	0.561000	0.74099	CGG	ATG2A	-	NULL	ENSG00000110046		0.701	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	-	0.00	71	0	C	NM_015104		64677266	-1	tier1	-	no_errors	ENST00000421419	ensembl	human	known	74_37	missense	22.03	46	13	SNP	0.998	A
ATG2B	55102	genome.wustl.edu	37	14	96788614	96788614	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:96788614delA	ENST00000359933.4	-	18	3630				snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGTTCAGTGCAAAAAAAAAGG	0.353																																																	0										5,26,3501		0,0,5,0,26,1735	75.0	71.0	72.0			-2.9	0.0	14		75	23,91,7706		1,0,21,1,89,3798	no	intron	ATG2B	NM_018036.5		1,0,26,1,115,5533	A1A1,A1A2,A1R,A2A2,A2R,RR		1.4578,0.8777,1.2773			96788614	28,117,11207	1827	4079	5906	SO:0001627	intron_variant	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2737-23T>-	14.37:g.96788614delA			Q6ZRE7|Q96DQ3|Q9NW80	RNA	DEL	-	NULL	ENST00000359933.4	37	NULL	CCDS9944.2	14																																																																																			ATG2B	-	-	ENSG00000066739		0.353	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1		0.00	25	0	A	NM_018036		96788614	-1	tier1		no_errors	ENST00000488421	ensembl	human	known	74_37	rna	26.83	30	11	DEL	0.000	-
ATG7	10533	genome.wustl.edu	37	3	11468322	11468322	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:11468322G>T	ENST00000354449.3	+	18	2026	c.2001G>T	c.(1999-2001)aaG>aaT	p.K667N	ATG7_ENST00000354956.5_Missense_Mutation_p.K640N|ATG7_ENST00000446450.2_Intron	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	667					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.K667N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TCCTAGCCAAGGTGTTTAATT	0.348																																																	1	Substitution - Missense(1)	endometrium(1)											112.0	105.0	107.0					3																	11468322		2203	4300	6503	SO:0001583	missense	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.2001G>T	3.37:g.11468322G>T	ENSP00000346437:p.Lys667Asn		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7	p.K667N	ENST00000354449.3	37	c.2001	CCDS2605.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.06|15.06|15.06	2.721087|2.721087|2.721087	0.48728|0.48728|0.48728	.|.|.	.|.|.	ENSG00000197548|ENSG00000197548|ENSG00000197548	ENST00000446110|ENST00000354956;ENST00000354449;ENST00000414717|ENST00000427759	.|T;T|.	.|0.45668|.	.|0.89;1.55|.	5.97|5.97|5.97	3.86|3.86|3.86	0.44501|0.44501|0.44501	.|.|.	.|0.057686|.	.|0.64402|.	.|D|.	.|0.000003|.	T|T|T	0.57844|0.57844|0.57844	0.2081|0.2081|0.2081	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.50813|0.50813|0.50813	D|D|D	0.999899|0.999899|0.999899	.|B;B|.	.|0.32781|.	.|0.384;0.069|.	.|B;B|.	.|0.34931|.	.|0.192;0.03|.	T|T|T	0.54899|0.54899|0.54899	-0.8224|-0.8224|-0.8224	5|10|5	.|0.35671|.	.|T|.	.|0.21|.	-19.1263|-19.1263|-19.1263	11.2211|11.2211|11.2211	0.48855|0.48855|0.48855	0.2649:0.0:0.7351:0.0|0.2649:0.0:0.7351:0.0|0.2649:0.0:0.7351:0.0	.|.|.	.|640;667|.	.|O95352-2;O95352|.	.|.;ATG7_HUMAN|.	C|N|M	68|640;667;68|68	.|ENSP00000347042:K640N;ENSP00000346437:K667N|.	.|ENSP00000346437:K667N|.	G|K|R	+|+|+	1|3|2	0|2|0	ATG7|ATG7|ATG7	11443322|11443322|11443322	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	1.050000|1.050000|1.050000	0.30404|0.30404|0.30404	1.523000|1.523000|1.523000	0.49018|0.49018|0.49018	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGT|AAG|AGG	ATG7	-	tigrfam_Atg7	ENSG00000197548		0.348	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	-	0.00	77	0	G	NM_006395		11468322	+1	tier1	-	no_errors	ENST00000354449	ensembl	human	known	74_37	missense	15.38	66	12	SNP	1.000	T
ATL1	51062	genome.wustl.edu	37	14	51026987	51026987	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:51026987G>A	ENST00000358385.6	+	1	245	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	ATL1_ENST00000357032.3_Missense_Mutation_p.A2T|ATL1_ENST00000441560.2_Missense_Mutation_p.A2T|ATL1_ENST00000354525.4_Missense_Mutation_p.A2T|ATL1_ENST00000556478.2_3'UTR	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	2					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GACCACCATGGCCAAGAACCG	0.642																																																	0													72.0	62.0	66.0					14																	51026987		2203	4300	6503	SO:0001583	missense	0			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.4G>A	14.37:g.51026987G>A	ENSP00000351155:p.Ala2Thr		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C	p.A2T	ENST00000358385.6	37	c.4	CCDS9700.1	14	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166582	0.57476	.	.	ENSG00000198513	ENST00000441560;ENST00000555960;ENST00000553509;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T;T	0.78924	-1.22;0.77;-1.22;-1.22;-1.22	5.54	4.63	0.57726	.	0.405962	0.25408	N	0.030894	T	0.67040	0.2851	N	0.24115	0.695	0.37483	D	0.916087	B;B	0.23591	0.053;0.088	B;B	0.28553	0.042;0.091	T	0.68827	-0.5306	10	0.87932	D	0	-8.1916	11.6662	0.51374	0.0:0.0:0.8225:0.1775	.	2;2	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	T	2	ENSP00000413675:A2T;ENSP00000452506:A2T;ENSP00000351155:A2T;ENSP00000349534:A2T;ENSP00000346522:A2T	ENSP00000346522:A2T	A	+	1	0	ATL1	50096737	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	4.746000	0.62133	1.316000	0.45131	-0.500000	0.04577	GCC	ATL1	-	NULL	ENSG00000198513		0.642	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	HGNC	protein_coding	OTTHUMT00000276884.2	-	0.00	49	0	G			51026987	+1	tier1	-	no_errors	ENST00000357032	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	A
ATOH7	220202	genome.wustl.edu	37	10	69991281	69991281	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:69991281G>A	ENST00000373673.3	-	1	590	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	RP11-153K11.3_ENST00000444086.1_lincRNA	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	52	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|neural retina development (GO:0003407)|optic nerve development (GO:0021554)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCTGCATGCGGCGGCGCTCG	0.731																																																	0													26.0	26.0	26.0					10																	69991281		2202	4298	6500	SO:0001583	missense	0			AF418922	CCDS7276.1	10q22.2	2013-05-21			ENSG00000179774	ENSG00000179774		"""Basic helix-loop-helix proteins"""	13907	protein-coding gene	gene with protein product		609875				11889557	Standard	NM_145178		Approved	Math5, bHLHa13	uc001jnq.3	Q8N100	OTTHUMG00000018346	ENST00000373673.3:c.154C>T	10.37:g.69991281G>A	ENSP00000362777:p.Arg52Cys			Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R52C	ENST00000373673.3	37	c.154	CCDS7276.1	10	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218569	0.79464	.	.	ENSG00000179774	ENST00000373673	D	0.99722	-6.53	4.91	3.94	0.45596	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96559	0.9414	9	.	.	.	-9.6103	12.0124	0.53295	0.0:0.0:0.6966:0.3034	.	52	Q8N100	ATOH7_HUMAN	C	52	ENSP00000362777:R52C	.	R	-	1	0	ATOH7	69661287	0.998000	0.40836	1.000000	0.80357	0.754000	0.42855	2.565000	0.45939	2.280000	0.76307	0.491000	0.48974	CGC	ATOH7	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000179774		0.731	ATOH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH7	HGNC	protein_coding	OTTHUMT00000048312.1	-	0.00	40	0	G			69991281	-1	tier1	-	no_errors	ENST00000373673	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.999	A
ATP13A2	23400	genome.wustl.edu	37	1	17316221	17316221	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:17316221C>A	ENST00000326735.8	-	23	2607	c.2574G>T	c.(2572-2574)caG>caT	p.Q858H	ATP13A2_ENST00000452699.1_Missense_Mutation_p.Q853H|ATP13A2_ENST00000341676.5_Missense_Mutation_p.Q814H|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	858				APEQ -> IPRA (in Ref. 8; CAA08912). {ECO:0000305}.	cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCTCTGTCTTCTGCTCAGGGG	0.642																																																	0													54.0	54.0	54.0					1																	17316221		2203	4300	6503	SO:0001583	missense	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2574G>T	1.37:g.17316221C>A	ENSP00000327214:p.Gln858His		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.Q858H	ENST00000326735.8	37	c.2574	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748452	0.69533	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	T;T;T;D	0.99098	-0.36;-0.36;-0.36;-5.42	4.1	4.1	0.47936	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.98776	0.9588	L	0.46157	1.445	0.49483	D	0.999791	P;D;D	0.89917	0.951;1.0;1.0	P;D;D	0.91635	0.808;0.999;0.99	D	0.99327	1.0908	10	0.56958	D	0.05	-19.407	15.0623	0.71964	0.0:1.0:0.0:0.0	.	814;853;858	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	H	858;814;853;54	ENSP00000327214:Q858H;ENSP00000341115:Q814H;ENSP00000413307:Q853H;ENSP00000423065:Q54H	ENSP00000327214:Q858H	Q	-	3	2	ATP13A2	17188808	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.206000	0.58473	2.123000	0.65237	0.561000	0.74099	CAG	ATP13A2	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000159363		0.642	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	-	0.00	91	0	C	NM_022089		17316221	-1	tier1	-	no_errors	ENST00000326735	ensembl	human	known	74_37	missense	14.63	70	12	SNP	1.000	A
ATP13A3	79572	genome.wustl.edu	37	3	194174452	194174452	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:194174452A>T	ENST00000439040.1	-	10	1612	c.821T>A	c.(820-822)gTt>gAt	p.V274D	ATP13A3_ENST00000256031.4_Missense_Mutation_p.V274D			Q9H7F0	AT133_HUMAN	ATPase type 13A3	274						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TACTCTACAAACTGAAACTCT	0.343																																																	0													104.0	94.0	98.0					3																	194174452		1863	4119	5982	SO:0001583	missense	0			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.821T>A	3.37:g.194174452A>T	ENSP00000416508:p.Val274Asp		Q8NC11|Q96KS1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.V274D	ENST00000439040.1	37	c.821	CCDS43187.1	3	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530312	0.85706	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.90261	-2.64;-2.64	5.43	5.43	0.79202	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98032	1.0377	10	0.52906	T	0.07	-16.4753	15.4922	0.75615	1.0:0.0:0.0:0.0	.	274	Q9H7F0	AT133_HUMAN	D	274;274;12	ENSP00000416508:V274D;ENSP00000256031:V274D	ENSP00000256031:V274D	V	-	2	0	ATP13A3	195655741	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.918000	0.92759	2.065000	0.61736	0.528000	0.53228	GTT	ATP13A3	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000133657		0.343	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP13A3	HGNC	protein_coding	OTTHUMT00000342799.2	-	0.00	52	0	A	NM_024524		194174452	-1	tier1	-	no_errors	ENST00000256031	ensembl	human	known	74_37	missense	29.17	34	14	SNP	1.000	T
ATP1A1	476	genome.wustl.edu	37	1	116926693	116926693	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:116926693delA	ENST00000295598.5	+	2	322	c.70delA	c.(70-72)aaafs	p.K25fs	AL136376.1_ENST00000598661.1_Frame_Shift_Del_p.L9fs|ATP1A1_ENST00000369496.4_5'UTR|ATP1A1_ENST00000537345.1_Frame_Shift_Del_p.K25fs	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	25					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TAAAAAGGGCAAAAAGGGCAA	0.393																																																	0													93.0	91.0	92.0					1																	116926693		2203	4300	6503	SO:0001589	frameshift_variant	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.70delA	1.37:g.116926693delA	ENSP00000295598:p.Lys25fs		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.K25fs	ENST00000295598.5	37	c.70	CCDS887.1	1																																																																																			ATP1A1	-	NULL	ENSG00000163399		0.393	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5		0.00	91	0	A	NM_001160233		116926693	+1	tier1		no_errors	ENST00000295598	ensembl	human	known	74_37	frame_shift_del	28.33	43	17	DEL	1.000	-
ATP2A1	487	genome.wustl.edu	37	16	28909403	28909403	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:28909403C>T	ENST00000357084.3	+	13	1769	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	ATP2A1_ENST00000395503.4_Missense_Mutation_p.A501V|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A376V	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	501					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGCTCCCCAGCCAAATCTTCC	0.532																																																	0													88.0	91.0	90.0					16																	28909403		2197	4300	6497	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1502C>T	16.37:g.28909403C>T	ENSP00000349595:p.Ala501Val		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.A501V	ENST00000357084.3	37	c.1502	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663860	0.47572	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.82526	-1.62;-1.62;-1.62	5.35	4.38	0.52667	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.105905	0.64402	D	0.000006	T	0.77370	0.4120	L	0.45352	1.415	0.52501	D	0.999958	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.71961	-0.4434	10	0.37606	T	0.19	.	14.2027	0.65714	0.1512:0.8488:0.0:0.0	.	376;501;501	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	V	501;501;538;376	ENSP00000349595:A501V;ENSP00000378879:A501V;ENSP00000443101:A376V	ENSP00000349595:A501V	A	+	2	0	ATP2A1	28816904	0.133000	0.22466	0.976000	0.42696	0.996000	0.88848	0.811000	0.27198	1.215000	0.43411	0.655000	0.94253	GCC	ATP2A1	-	superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000196296		0.532	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	-	0.00	57	0	C	NM_004320		28909403	+1	tier1	-	no_errors	ENST00000357084	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	T
ATP2A1	487	genome.wustl.edu	37	16	28912091	28912091	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:28912091G>A	ENST00000357084.3	+	15	2221	c.1954G>A	c.(1954-1956)Gcc>Acc	p.A652T	ATP2A1_ENST00000395503.4_Missense_Mutation_p.A652T|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A527T	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	652					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGCCGATCGCGCCTACACGGG	0.637																																																	0													85.0	71.0	76.0					16																	28912091		2197	4300	6497	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1954G>A	16.37:g.28912091G>A	ENSP00000349595:p.Ala652Thr		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.A652T	ENST00000357084.3	37	c.1954	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767100	0.90020	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99080	-5.4;-5.4;-5.4	5.31	4.35	0.52113	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.51477	U	0.000091	D	0.98544	0.9514	M	0.71296	2.17	0.54753	D	0.999983	D;D;P	0.56521	0.975;0.976;0.883	P;P;B	0.51742	0.531;0.678;0.306	D	0.98171	1.0452	10	0.56958	D	0.05	.	13.1141	0.59289	0.0797:0.0:0.9203:0.0	.	527;652;652	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	T	652;652;689;527	ENSP00000349595:A652T;ENSP00000378879:A652T;ENSP00000443101:A527T	ENSP00000349595:A652T	A	+	1	0	ATP2A1	28819592	1.000000	0.71417	0.810000	0.32431	0.708000	0.40852	9.783000	0.99037	1.244000	0.43870	0.485000	0.47835	GCC	ATP2A1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000196296		0.637	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2		0.00	50	0	G	NM_004320		28912091	+1			no_errors	ENST00000357084	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.998	A
ATP4A	495	genome.wustl.edu	37	19	36046453	36046454	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36046453_36046454insT	ENST00000262623.3	-	14	2073_2074	c.2045_2046insA	c.(2044-2046)aagfs	p.K682fs		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	682					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGTCCATGTCCTTCAGCTGCAT	0.639																																																	0																																										SO:0001589	frameshift_variant	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2046dupA	19.37:g.36046455_36046455dupT	ENSP00000262623:p.Lys682fs		O00738	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.D683fs	ENST00000262623.3	37	c.2046_2045	CCDS12467.1	19																																																																																			ATP4A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105675		0.639	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2		0.00	60	0	-	NM_000704		36046454	-1	tier1		no_errors	ENST00000262623	ensembl	human	known	74_37	frame_shift_ins	20.83	38	10	INS	1.000:1.000	T
ATP4A	495	genome.wustl.edu	37	19	36047856	36047856	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36047856C>T	ENST00000262623.3	-	12	1856	c.1828G>A	c.(1828-1830)Gtc>Atc	p.V610I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	610					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCATCAGGGACGGTGGCCCGG	0.597																																																	0													61.0	58.0	59.0					19																	36047856		2203	4300	6503	SO:0001583	missense	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1828G>A	19.37:g.36047856C>T	ENSP00000262623:p.Val610Ile		O00738	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.V610I	ENST00000262623.3	37	c.1828	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.086996	0.94100	.	.	ENSG00000105675	ENST00000262623	D	0.96168	-3.93	4.93	4.93	0.64822	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.56097	D	0.000027	D	0.97663	0.9234	M	0.84156	2.68	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98264	1.0500	10	0.87932	D	0	.	15.671	0.77274	0.0:1.0:0.0:0.0	.	610	P20648	ATP4A_HUMAN	I	610	ENSP00000262623:V610I	ENSP00000262623:V610I	V	-	1	0	ATP4A	40739696	1.000000	0.71417	0.811000	0.32455	0.992000	0.81027	7.625000	0.83145	2.562000	0.86427	0.591000	0.81541	GTC	ATP4A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105675		0.597	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	-	0.00	80	0	C	NM_000704		36047856	-1	tier1	-	no_errors	ENST00000262623	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.998	T
ATP6V0E2	155066	genome.wustl.edu	37	7	149572717	149572717	+	Silent	SNP	C	C	T	rs369744898		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:149572717C>T	ENST00000425642.2	+	2	158	c.135C>T	c.(133-135)gcC>gcT	p.A45A	ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000421974.2_Silent_p.A94A|ATP6V0E2_ENST00000464662.1_Silent_p.A45A|ATP6V0E2_ENST00000456496.2_Silent_p.A94A|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2_ENST00000606024.1_Silent_p.A45A|ATP6V0E2_ENST00000479613.1_Silent_p.A45A|ATP6V0E2-AS1_ENST00000461019.1_RNA			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	45					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			TCGCCACCGCCGTCTGCTGTT	0.562																																																	0								C	,	0,4364		0,0,2182	154.0	165.0	161.0		282,282	-10.1	0.2	7		161	2,8578		0,2,4288	no	coding-synonymous,coding-synonymous	ATP6V0E2	NM_001100592.1,NM_145230.2	,	0,2,6470	TT,TC,CC		0.0233,0.0,0.0155	,	94/214,94/131	149572717	2,12942	2182	4290	6472	SO:0001819	synonymous_variant	0			AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"""ATPases / V-type"""	21723	protein-coding gene	gene with protein product		611019	"""chromosome 7 open reading frame 32"", ""ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"""	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.135C>T	7.37:g.149572717C>T			A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Silent	SNP	pfam_ATPase_V0-cplx_e1/e2_su	p.A94	ENST00000425642.2	37	c.282		7																																																																																			ATP6V0E2	-	pfam_ATPase_V0-cplx_e1/e2_su	ENSG00000171130		0.562	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	ATP6V0E2	HGNC	protein_coding	OTTHUMT00000470874.1	-	0.00	31	0	C	NM_145230		149572717	+1	tier1	-	no_errors	ENST00000421974	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.033	T
ATP6V1B1	525	genome.wustl.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:71191573delC	ENST00000234396.4	+	12	1222	c.1149delC	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_ENST00000412314.1_Frame_Shift_Del_p.Y366fs|RN7SL160P_ENST00000468558.2_RNA|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTCAGATCTACCCCCCCATCA	0.547											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95.0	90.0	92.0					2																	71191573		2203	4300	6503	SO:0001589	frameshift_variant	0			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1149delC	2.37:g.71191573delC	ENSP00000234396:p.Tyr383fs	1128	Q53FY0|Q6P4H6	Frame_Shift_Del	DEL	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.I386fs	ENST00000234396.4	37	c.1149	CCDS1912.1	2																																																																																			ATP6V1B1	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu	ENSG00000116039		0.547	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B1	HGNC	protein_coding	OTTHUMT00000251920.2		0.00	35	0	C	NM_001692		71191573	+1	tier1		no_errors	ENST00000234396	ensembl	human	known	74_37	frame_shift_del	13.33	39	6	DEL	0.999	-
ATP7B	540	genome.wustl.edu	37	13	52532637	52532637	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:52532637A>C	ENST00000242839.4	-	8	2321	c.2165T>G	c.(2164-2166)cTg>cGg	p.L722R	ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.L722R|ATP7B_ENST00000400366.3_Missense_Mutation_p.L611R|ATP7B_ENST00000542656.1_Silent_p.S497S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	722					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCTGTGTCTCAGAGATTTGTA	0.522									Wilson disease																																								0													99.0	103.0	102.0					13																	52532637		2084	4203	6287	SO:0001583	missense	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2165T>G	13.37:g.52532637A>C	ENSP00000242839:p.Leu722Arg		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.L722R	ENST00000242839.4	37	c.2165	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619717	0.87460	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000418097	D;D;D	0.97710	-4.5;-4.5;-4.5	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	H	0.98005	4.125	0.80722	D	1	D;P;D	0.89917	1.0;0.567;1.0	D;B;D	0.83275	0.994;0.43;0.996	D	0.98742	1.0717	10	0.87932	D	0	-16.2064	15.3793	0.74641	1.0:0.0:0.0:0.0	.	722;611;722	F5H748;P35670-3;P35670	.;.;ATP7B_HUMAN	R	722;611;722	ENSP00000242839:L722R;ENSP00000383217:L611R;ENSP00000393343:L722R	ENSP00000242839:L722R	L	-	2	0	ATP7B	51430638	1.000000	0.71417	0.988000	0.46212	0.930000	0.56654	9.281000	0.95811	2.029000	0.59856	0.460000	0.39030	CTG	ATP7B	-	NULL	ENSG00000123191		0.522	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	-	0.00	68	0	A	NM_000053		52532637	-1	tier1	-	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	C
ATP8B3	148229	genome.wustl.edu	37	19	1795906	1795906	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:1795906delC	ENST00000310127.6	-	18	2261	c.2023delG	c.(2023-2025)gcafs	p.A675fs	ATP8B3_ENST00000525591.1_Frame_Shift_Del_p.A628fs|ATP8B3_ENST00000539485.1_Frame_Shift_Del_p.A675fs	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	675					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATTCCATTGCCCCCCTCCTG	0.582											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79.0	85.0	83.0					19																	1795906		2019	4172	6191	SO:0001589	frameshift_variant	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2023delG	19.37:g.1795906delC	ENSP00000311336:p.Ala675fs	598	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.A675fs	ENST00000310127.6	37	c.2023	CCDS45901.1	19																																																																																			ATP8B3	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000130270		0.582	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1		0.00	29	0	C	NM_138813		1795906	-1	tier1		no_errors	ENST00000539485	ensembl	human	known	74_37	frame_shift_del	15.62	27	5	DEL	0.000	-
ATP9A	10079	genome.wustl.edu	37	20	50287773	50287773	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:50287773C>T	ENST00000338821.5	-	12	1325	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D	ATP9A_ENST00000311637.5_Missense_Mutation_p.G218D|ATP9A_ENST00000402822.1_Missense_Mutation_p.G233D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	354					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CACGATCTTGCCCATGTCCAG	0.507																																																	0													88.0	75.0	79.0					20																	50287773		2203	4300	6503	SO:0001583	missense	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1061G>A	20.37:g.50287773C>T	ENSP00000342481:p.Gly354Asp		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G354D	ENST00000338821.5	37	c.1061	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806684	0.90623	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.90563	-2.48;-2.69;-2.48	5.33	5.33	0.75918	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.83223	2.63	0.80722	D	1	P;D	0.67145	0.666;0.996	B;D	0.70716	0.323;0.97	D	0.96057	0.9036	10	0.87932	D	0	-26.3671	18.985	0.92766	0.0:1.0:0.0:0.0	.	233;354	O75110-2;O75110	.;ATP9A_HUMAN	D	218;354;233	ENSP00000309086:G218D;ENSP00000342481:G354D;ENSP00000385875:G233D	ENSP00000309086:G218D	G	-	2	0	ATP9A	49721180	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.436000	0.80404	2.478000	0.83669	0.313000	0.20887	GGC	ATP9A	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000054793		0.507	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0.00	51	0	C	NM_006045		50287773	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	T
ATR	545	genome.wustl.edu	37	3	142274740	142274740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:142274740delT	ENST00000350721.4	-	10	2441	c.2320delA	c.(2320-2322)atafs	p.I774fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.I710fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	774					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I774fs*5(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGACTAGGTATTTTTTTTTTC	0.328								Other conserved DNA damage response genes																																									1	Deletion - Frameshift(1)	breast(1)											72.0	79.0	77.0					3																	142274740		2203	4300	6503	SO:0001589	frameshift_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2320delA	3.37:g.142274740delT	ENSP00000343741:p.Ile774fs		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.I774fs	ENST00000350721.4	37	c.2320	CCDS3124.1	3																																																																																			ATR	-	superfamily_ARM-type_fold	ENSG00000175054		0.328	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2		0.00	59	0	T	NM_001184		142274740	-1	tier1		no_errors	ENST00000350721	ensembl	human	known	74_37	frame_shift_del	15.07	62	11	DEL	0.000	-
ATRN	8455	genome.wustl.edu	37	20	3526487	3526487	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:3526487delT	ENST00000262919.5	+	4	755	c.687delT	c.(685-687)catfs	p.H229fs	ATRN_ENST00000446916.2_Frame_Shift_Del_p.H229fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	229	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CCTTGCTGCATTTTTTTAGTG	0.378																																																	0													202.0	181.0	188.0					20																	3526487		2203	4300	6503	SO:0001589	frameshift_variant	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.687delT	20.37:g.3526487delT	ENSP00000262919:p.His229fs		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.F231fs	ENST00000262919.5	37	c.687	CCDS13053.1	20																																																																																			ATRN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000088812		0.378	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2		0.00	72	0	T	NM_139321		3526487	+1	tier1		no_errors	ENST00000262919	ensembl	human	known	74_37	frame_shift_del	10.81	66	8	DEL	1.000	-
ATRN	8455	genome.wustl.edu	37	20	3557636	3557636	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:3557636C>T	ENST00000262919.5	+	14	2413	c.2345C>T	c.(2344-2346)gCc>gTc	p.A782V	ATRN_ENST00000446916.2_Missense_Mutation_p.A782V	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	782	PSI 2.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GAGTGCATTGCCCTGCCCGGT	0.562																																																	0													91.0	86.0	88.0					20																	3557636		2203	4300	6503	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2345C>T	20.37:g.3557636C>T	ENSP00000262919:p.Ala782Val		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A782V	ENST00000262919.5	37	c.2345	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571124	0.86542	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.06687	3.27;3.34	5.81	5.81	0.92471	.	0.251888	0.40728	N	0.001022	T	0.11537	0.0281	L	0.39898	1.24	0.43377	D	0.995477	P;P	0.41748	0.761;0.617	B;B	0.43867	0.434;0.173	T	0.01951	-1.1241	10	0.44086	T	0.13	-14.7565	15.197	0.73100	0.0:0.8595:0.1405:0.0	.	782;782	O75882;O75882-2	ATRN_HUMAN;.	V	782;782;708	ENSP00000262919:A782V;ENSP00000416587:A782V	ENSP00000262919:A782V	A	+	2	0	ATRN	3505636	0.998000	0.40836	1.000000	0.80357	0.943000	0.58893	4.788000	0.62439	2.758000	0.94735	0.561000	0.74099	GCC	ATRN	-	smart_Plexin-like_fold	ENSG00000088812		0.562	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	-	0.00	48	0	C	NM_139321		3557636	+1	tier1	-	no_errors	ENST00000262919	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	T
ATRNL1	26033	genome.wustl.edu	37	10	117486834	117486837	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AACA	AACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:117486834_117486837delAACA	ENST00000355044.3	+	27	3998_4001	c.3872_3875delAACA	c.(3871-3876)gaacaafs	p.EQ1291fs	ATRNL1_ENST00000423111.2_Frame_Shift_Del_p.EQ342fs|ATRNL1_ENST00000303745.7_Frame_Shift_Del_p.EQ84fs	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1291					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTGGGAGCTGAACAAACAGAGTTT	0.466																																																	0																																										SO:0001589	frameshift_variant	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3872_3875delAACA	10.37:g.117486838_117486841delAACA	ENSP00000347152:p.Glu1291fs		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.T1293fs	ENST00000355044.3	37	c.3872_3875	CCDS7592.1	10																																																																																			ATRNL1	-	NULL	ENSG00000107518		0.466	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3		0.00	48	0	AACA	XM_049349		117486837	+1	tier1		no_errors	ENST00000355044	ensembl	human	known	74_37	frame_shift_del	24.49	37	12	DEL	1.000:1.000:1.000:1.000	-
ATRX	546	genome.wustl.edu	37	X	76762663	76762663	+	3'UTR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:76762663delA	ENST00000373344.5	-	0	8859				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_3'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATCTAAACTAAAAAAAAAAC	0.274			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0																																										SO:0001624	3_prime_UTR_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.*1166T>-	X.37:g.76762663delA			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	DEL	-	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			ATRX	-	-	ENSG00000085224		0.274	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2		0.00	45	0	A	NM_000489		76762663	-1	tier1		no_errors	ENST00000480283	ensembl	human	known	74_37	rna	33.33	20	10	DEL	0.000	-
ATXN2	6311	genome.wustl.edu	37	12	111990213	111990213	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:111990213C>T	ENST00000377617.3	-	5	1083	c.922G>A	c.(922-924)Gca>Aca	p.A308T	ATXN2_ENST00000535949.1_Missense_Mutation_p.A19T|ATXN2_ENST00000608853.1_Missense_Mutation_p.A148T|ATXN2_ENST00000389153.4_Missense_Mutation_p.A43T|ATXN2_ENST00000542287.2_Missense_Mutation_p.A43T|ATXN2_ENST00000550104.1_Missense_Mutation_p.A308T|ATXN2_ENST00000549455.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	308					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTCATGTGCGGCATCAAGT	0.348																																																	0													78.0	78.0	78.0					12																	111990213		2203	4300	6503	SO:0001583	missense	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.922G>A	12.37:g.111990213C>T	ENSP00000366843:p.Ala308Thr		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.A308T	ENST00000377617.3	37	c.922	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.484994	0.96323	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000548492	T;T;T;T;T	0.70282	0.83;-0.41;-0.47;0.83;0.83	5.54	5.54	0.83059	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	D	0.84329	0.5448	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.85130	0.996;0.997;0.996;0.996	T	0.82161	-0.0594	10	0.36615	T	0.2	-10.8382	19.8254	0.96616	0.0:1.0:0.0:0.0	.	43;308;19;43	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	T	43;308;308;43;19;51	ENSP00000373805:A43T;ENSP00000366843:A308T;ENSP00000446576:A308T;ENSP00000445583:A43T;ENSP00000449566:A51T	ENSP00000366843:A308T	A	-	1	0	ATXN2	110474596	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.105000	0.77031	2.754000	0.94517	0.655000	0.94253	GCA	ATXN2	-	superfamily_LSM_dom	ENSG00000204842		0.348	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3		0.00	73	0	C	NM_002973		111990213	-1			no_errors	ENST00000377617	ensembl	human	known	74_37	missense	6.17	76	5	SNP	1.000	T
ATXN7L3	56970	genome.wustl.edu	37	17	42275066	42275066	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:42275066G>A	ENST00000454077.2	-	2	83	c.84C>T	c.(82-84)gtC>gtT	p.V28V	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Silent_p.V28V|CTB-175E5.7_ENST00000586560.1_RNA	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAGAATCCTCGACCAGGTCCG	0.542																																																	0													125.0	124.0	124.0					17																	42275066		1991	4170	6161	SO:0001819	synonymous_variant	0			AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.84C>T	17.37:g.42275066G>A				Silent	SNP	pfam_SAGA_su_Sgf11,pfam_SCA7_dom	p.V28	ENST00000454077.2	37	c.84	CCDS45697.1	17																																																																																			ATXN7L3	-	NULL	ENSG00000087152		0.542	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATXN7L3	HGNC	protein_coding	OTTHUMT00000457724.1	-	0.00	48	0	G			42275066	-1	tier1	-	no_errors	ENST00000454077	ensembl	human	known	74_37	silent	17.95	32	7	SNP	0.991	A
AURKAIP1	54998	genome.wustl.edu	37	1	1309775	1309775	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1309775C>A	ENST00000338370.3	-	2	503	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.G35W|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.G35W|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.G35W			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	35					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TAAAGGGGCCCGCAGACCCGG	0.711																																																	0													4.0	7.0	6.0					1																	1309775		2017	3999	6016	SO:0001583	missense	0				CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.103G>T	1.37:g.1309775C>A	ENSP00000342676:p.Gly35Trp		Q5TA36|Q8TBD3	Missense_Mutation	SNP	pfam_DUF1713_mit	p.G35W	ENST00000338370.3	37	c.103	CCDS25.1	1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.443225	0.63067	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.15	-4.52	0.03472	.	1.200520	0.05989	N	0.645670	T	0.22975	0.0555	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.32640	-0.9899	10	0.66056	D	0.02	-3.1656	1.5658	0.02604	0.2046:0.2758:0.3531:0.1664	.	35	Q9NWT8	AKIP_HUMAN	W	35	ENSP00000340656:G35W;ENSP00000342676:G35W;ENSP00000319778:G35W;ENSP00000368130:G35W	ENSP00000319778:G35W	G	-	1	0	AURKAIP1	1299638	0.000000	0.05858	0.007000	0.13788	0.014000	0.08584	-0.314000	0.08092	-0.188000	0.10499	-0.302000	0.09304	GGG	AURKAIP1	-	NULL	ENSG00000175756		0.711	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKAIP1	HGNC	protein_coding	OTTHUMT00000008273.1	-	0.00	39	0	C	NM_017900		1309775	-1	tier1	-	no_errors	ENST00000321751	ensembl	human	known	74_37	missense	40.00	18	12	SNP	0.000	A
AURKB	9212	genome.wustl.edu	37	17	8110190	8110190	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:8110190G>T	ENST00000585124.1	-	6	508	c.415C>A	c.(415-417)Cgt>Agt	p.R139S	AURKB_ENST00000535053.1_Intron|AURKB_ENST00000316199.6_Missense_Mutation_p.R140S|AURKB_ENST00000534871.1_Missense_Mutation_p.R98S|AURKB_ENST00000578549.1_Missense_Mutation_p.R107S	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						TTGTAGAGACGCAGGATGTTG	0.522																																					NSCLC(134;1161 2470 43664 51568)												0													37.0	38.0	37.0					17																	8110190		2203	4300	6503	SO:0001583	missense	0			AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.415C>A	17.37:g.8110190G>T	ENSP00000463999:p.Arg139Ser		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R139S	ENST00000585124.1	37	c.415	CCDS11134.1	17	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428445	0.43122	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.08634	3.07	6.07	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052151	0.85682	D	0.000000	T	0.16171	0.0389	L	0.47190	1.495	0.80722	D	1	D;D	0.54397	0.966;0.966	P;P	0.52554	0.702;0.702	T	0.00468	-1.1721	10	0.87932	D	0	-21.8185	14.3583	0.66752	0.0:0.0:0.8508:0.1492	.	139;139	C7G533;Q96GD4	.;AURKB_HUMAN	S	139;98	ENSP00000443869:R98S	ENSP00000313950:R139S	R	-	1	0	AURKB	8050915	1.000000	0.71417	0.993000	0.49108	0.818000	0.46254	4.644000	0.61397	1.535000	0.49220	0.655000	0.94253	CGT	AURKB	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000178999		0.522	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AURKB	HGNC	protein_coding	OTTHUMT00000226995.2		0.00	74	0	G	NM_004217		8110190	-1			no_errors	ENST00000585124	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T
AUTS2	26053	genome.wustl.edu	37	7	70239044	70239044	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:70239044C>T	ENST00000342771.4	+	12	2182	c.1861C>T	c.(1861-1863)Cct>Tct	p.P621S	AUTS2_ENST00000406775.2_Intron	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	621										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGCTGCTCGGCCTGGGACAGT	0.502																																																	0													132.0	103.0	113.0					7																	70239044		2203	4300	6503	SO:0001583	missense	0			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1861C>T	7.37:g.70239044C>T	ENSP00000344087:p.Pro621Ser		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.P621S	ENST00000342771.4	37	c.1861	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402552	0.42613	.	.	ENSG00000158321	ENST00000342771	T	0.36520	1.25	6.06	6.06	0.98353	.	0.049027	0.85682	D	0.000000	T	0.46964	0.1420	L	0.35644	1.08	0.80722	D	1	D;D	0.63046	0.992;0.98	P;P	0.56960	0.755;0.81	T	0.09100	-1.0690	9	.	.	.	-16.1792	19.609	0.95594	0.0:1.0:0.0:0.0	.	73;621	B4DLG0;Q8WXX7	.;AUTS2_HUMAN	S	621	ENSP00000344087:P621S	.	P	+	1	0	AUTS2	69876980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.645000	0.67909	2.882000	0.98803	0.655000	0.94253	CCT	AUTS2	-	NULL	ENSG00000158321		0.502	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	-	0.00	34	0	C			70239044	+1	tier1	-	no_errors	ENST00000342771	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	T
AVPR1A	552	genome.wustl.edu	37	12	63541258	63541258	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:63541258T>G	ENST00000299178.2	-	2	1243	c.1138A>C	c.(1138-1140)Agt>Cgt	p.S380R		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	380					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.S380G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CTGCTCATACTGTCAGTATCT	0.393																																																	1	Substitution - Missense(1)	central_nervous_system(1)											228.0	215.0	220.0					12																	63541258		2203	4300	6503	SO:0001583	missense	0			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.1138A>C	12.37:g.63541258T>G	ENSP00000299178:p.Ser380Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.S380R	ENST00000299178.2	37	c.1138	CCDS8965.1	12	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339780	0.60963	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.71579	-0.58;0.17	6.06	6.06	0.98353	Domain of unknown function DUF1856 (1);	0.000000	0.85682	D	0.000000	T	0.80417	0.4619	M	0.79926	2.475	0.80722	D	1	P	0.49447	0.924	P	0.52267	0.694	T	0.81562	-0.0876	9	.	.	.	-19.8949	15.7905	0.78357	0.0:0.0:0.0:1.0	.	380	P37288	V1AR_HUMAN	R	161;380	ENSP00000449822:S161R;ENSP00000299178:S380R	.	S	-	1	0	AVPR1A	61827525	1.000000	0.71417	0.999000	0.59377	0.050000	0.14768	5.763000	0.68818	2.324000	0.78689	0.533000	0.62120	AGT	AVPR1A	-	pfam_DUF1856,prints_Vprs_V1A_rcpt	ENSG00000166148		0.393	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1A	HGNC	protein_coding	OTTHUMT00000406734.1	-	0.00	59	0	T			63541258	-1	tier1	-	no_errors	ENST00000299178	ensembl	human	known	74_37	missense	13.46	45	7	SNP	1.000	G
AXIN1	8312	genome.wustl.edu	37	16	348180	348180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:348180delG	ENST00000262320.3	-	6	1697	c.1326delC	c.(1324-1326)cccfs	p.P442fs	AXIN1_ENST00000354866.3_Frame_Shift_Del_p.P442fs|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	442	Interaction with CTNNB1. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGTGCCAAGCGGGGGCGGGAG	0.667											OREG0003699	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0																																										SO:0001589	frameshift_variant	0			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1326delC	16.37:g.348180delG	ENSP00000262320:p.Pro442fs	587	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Frame_Shift_Del	DEL	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.A443fs	ENST00000262320.3	37	c.1326	CCDS10405.1	16																																																																																			AXIN1	-	NULL	ENSG00000103126		0.667	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3		0.00	97	0	G			348180	-1	tier1		no_errors	ENST00000262320	ensembl	human	known	74_37	frame_shift_del	21.79	61	17	DEL	0.000	-
AXIN1	8312	genome.wustl.edu	37	16	360055	360055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:360055delG	ENST00000262320.3	-	4	1405	c.1034delC	c.(1033-1035)ccafs	p.P345fs	AXIN1_ENST00000354866.3_Frame_Shift_Del_p.P345fs|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	345			P -> L (in HCC). {ECO:0000269|PubMed:12101426}.		activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.P345L(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GATCCTGTATGGGGGGATCCC	0.627																																																	1	Substitution - Missense(1)	liver(1)											66.0	44.0	51.0					16																	360055		2202	4300	6502	SO:0001589	frameshift_variant	0			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1034delC	16.37:g.360055delG	ENSP00000262320:p.Pro345fs		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Frame_Shift_Del	DEL	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.P345fs	ENST00000262320.3	37	c.1034	CCDS10405.1	16																																																																																			AXIN1	-	NULL	ENSG00000103126		0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3		0.00	13	0	G			360055	-1	tier1		no_errors	ENST00000262320	ensembl	human	known	74_37	frame_shift_del	21.05	15	4	DEL	1.000	-
AXIN2	8313	genome.wustl.edu	37	17	63531800	63531800	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:63531800C>T	ENST00000375702.5	-	7	2094	c.1986G>A	c.(1984-1986)tcG>tcA	p.S662S	AXIN2_ENST00000307078.5_Silent_p.S727S			Q9Y2T1	AXIN2_HUMAN	axin 2	727					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GAACAGTGGCCGAATGATTCC	0.537									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0													100.0	77.0	85.0					17																	63531800		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1986G>A	17.37:g.63531800C>T			Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.S727	ENST00000375702.5	37	c.2181		17																																																																																			AXIN2	-	NULL	ENSG00000168646		0.537	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	-	0.00	30	0	C	NM_004655		63531800	-1	tier1	-	no_errors	ENST00000307078	ensembl	human	known	74_37	silent	32.26	21	10	SNP	0.000	T
AZI2	64343	genome.wustl.edu	37	3	28382061	28382061	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:28382061delT	ENST00000479665.1	-	2	579	c.48delA	c.(46-48)aaafs	p.K16fs	AZI2_ENST00000420543.2_Frame_Shift_Del_p.K16fs|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Frame_Shift_Del_p.K16fs|AZI2_ENST00000457172.1_Frame_Shift_Del_p.K16fs	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	16	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TCTTATGGGCTTTTTCATGAT	0.348																																																	0													104.0	107.0	106.0					3																	28382061		2203	4300	6503	SO:0001589	frameshift_variant	0			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.48delA	3.37:g.28382061delT	ENSP00000419371:p.Lys16fs		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Frame_Shift_Del	DEL	NULL	p.A17fs	ENST00000479665.1	37	c.48	CCDS2647.1	3																																																																																			AZI2	-	NULL	ENSG00000163512		0.348	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000252998.2		0.00	51	0	T	NM_203326		28382061	-1	tier1		no_errors	ENST00000479665	ensembl	human	known	74_37	frame_shift_del	37.21	27	16	DEL	0.996	-
B3GAT1	27087	genome.wustl.edu	37	11	134253746	134253746	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:134253746C>T	ENST00000524765.1	-	3	4993	c.449G>A	c.(448-450)cGc>cAc	p.R150H	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R150H|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R150H|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R163H			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	150					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CTTGTAGTTGCGGGGCGTCTC	0.736																																																	0													29.0	28.0	28.0					11																	134253746		2175	4238	6413	SO:0001583	missense	0			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.449G>A	11.37:g.134253746C>T	ENSP00000433847:p.Arg150His		Q96FS7	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.R163H	ENST00000524765.1	37	c.488	CCDS8500.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.366519	0.95900	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.39	5.39	0.77823	.	0.046617	0.85682	D	0.000000	T	0.64068	0.2565	L	0.45581	1.43	0.80722	D	1	B;P	0.39391	0.02;0.671	B;B	0.43413	0.011;0.419	T	0.65084	-0.6254	10	0.49607	T	0.09	-27.3711	19.1576	0.93517	0.0:1.0:0.0:0.0	.	163;150	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	H	150;150;150;163	ENSP00000376359:R150H;ENSP00000307875:R150H;ENSP00000433847:R150H;ENSP00000445983:R163H	ENSP00000307875:R150H	R	-	2	0	B3GAT1	133758956	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.342000	0.52159	2.541000	0.85698	0.561000	0.74099	CGC	B3GAT1	-	pfam_Glyco_trans_43	ENSG00000109956		0.736	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	-	0.00	83	0	C	NM_018644		134253746	-1	tier1	-	no_errors	ENST00000537389	ensembl	human	known	74_37	missense	29.49	55	23	SNP	1.000	T
B4GALNT2	124872	genome.wustl.edu	37	17	47230172	47230172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:47230172delC	ENST00000300404.2	+	4	603	c.544delC	c.(544-546)cccfs	p.P182fs	B4GALNT2_ENST00000504681.1_Frame_Shift_Del_p.P96fs|B4GALNT2_ENST00000393354.2_Frame_Shift_Del_p.P122fs	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	182					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AGAAGGGCTGCCCCGCCCACT	0.622																																					GBM(124;244 1635 8663 18097 33175)												0													38.0	28.0	32.0					17																	47230172		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.544delC	17.37:g.47230172delC	ENSP00000300404:p.Pro182fs		B4DZE4|Q14CP1|Q86Y40	Frame_Shift_Del	DEL	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.R183fs	ENST00000300404.2	37	c.544	CCDS11544.1	17																																																																																			B4GALNT2	-	pirsf_GM2_synthase	ENSG00000167080		0.622	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1		0.00	50	0	C	NM_153446		47230172	+1	tier1		no_errors	ENST00000300404	ensembl	human	known	74_37	frame_shift_del	33.33	28	14	DEL	1.000	-
B9D2	80776	genome.wustl.edu	37	19	41860681	41860681	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:41860681G>A	ENST00000243578.3	-	4	671	c.452C>T	c.(451-453)aCa>aTa	p.T151I	CTC-435M10.3_ENST00000604424.1_Intron|TGFB1_ENST00000221930.5_5'Flank|TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	151					cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						ACCAGCAGCTGTGTGCAGGCG	0.647																																																	0													89.0	72.0	78.0					19																	41860681		2203	4300	6503	SO:0001583	missense	0			BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9		ENST00000243578.3:c.452C>T	19.37:g.41860681G>A	ENSP00000243578:p.Thr151Ile			Missense_Mutation	SNP	pfam_B9_dom	p.T151I	ENST00000243578.3	37	c.452	CCDS12579.1	19	.	.	.	.	.	.	.	.	.	.	g	25.7	4.669919	0.88348	.	.	ENSG00000123810	ENST00000243578	T	0.73681	-0.77	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90950	0.4804	10	0.87932	D	0	-11.0303	15.0943	0.72220	0.0:0.0:1.0:0.0	.	151	Q9BPU9	B9D2_HUMAN	I	151	ENSP00000243578:T151I	ENSP00000243578:T151I	T	-	2	0	B9D2	46552521	1.000000	0.71417	0.910000	0.35882	0.941000	0.58515	8.460000	0.90369	2.077000	0.62373	0.450000	0.29827	ACA	B9D2	-	pfam_B9_dom	ENSG00000123810		0.647	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B9D2	HGNC	protein_coding	OTTHUMT00000463489.1	-	0.00	79	0	G	NM_030578		41860681	-1	tier1	-	no_errors	ENST00000243578	ensembl	human	known	74_37	missense	20.00	64	16	SNP	0.998	A
BAALC	79870	genome.wustl.edu	37	8	104225196	104225196	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:104225196C>A	ENST00000297574.6	+	3	454	c.315C>A	c.(313-315)gcC>gcA	p.A105A	BAALC_ENST00000309982.5_Silent_p.A70A|RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000438105.2_Intron			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	105						cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GATCTACAGCCCCAGGTGGAA	0.567																																																	0													136.0	119.0	125.0					8																	104225196		2203	4300	6503	SO:0001819	synonymous_variant	0			AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.315C>A	8.37:g.104225196C>A			Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Silent	SNP	pfam_BAALC	p.A105	ENST00000297574.6	37	c.315		8																																																																																			BAALC	-	NULL	ENSG00000164929		0.567	BAALC-003	KNOWN	basic	protein_coding	BAALC	HGNC	protein_coding	OTTHUMT00000380257.1	-	0.00	76	0	C			104225196	+1	tier1	-	no_errors	ENST00000297574	ensembl	human	known	74_37	silent	44.05	47	37	SNP	0.483	A
BAI2	576	genome.wustl.edu	37	1	32207741	32207741	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:32207741G>A	ENST00000373658.3	-	8	1671	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	BAI2_ENST00000398538.1_Missense_Mutation_p.R432W|BAI2_ENST00000398542.1_Missense_Mutation_p.R377W|BAI2_ENST00000440175.2_Missense_Mutation_p.R86W|BAI2_ENST00000398547.1_Missense_Mutation_p.R377W|BAI2_ENST00000527361.1_Missense_Mutation_p.R444W|BAI2_ENST00000257070.4_Missense_Mutation_p.R444W|BAI2_ENST00000398556.3_Missense_Mutation_p.R392W|BAI2_ENST00000373655.2_Missense_Mutation_p.R444W	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	444	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCACTTCCGGCTGCGCTGT	0.667																																																	0													36.0	40.0	39.0					1																	32207741		2203	4300	6503	SO:0001583	missense	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1330C>T	1.37:g.32207741G>A	ENSP00000362762:p.Arg444Trp		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R444W	ENST00000373658.3	37	c.1330	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673694	0.67928	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	4.1	4.1	0.47936	.	0.233514	0.22322	N	0.061587	D	0.83385	0.5243	H	0.95079	3.62	0.46927	D	0.999258	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D	0.86910	0.2060	10	0.87932	D	0	.	10.9539	0.47345	0.0:0.0:0.8126:0.1874	.	377;444;432;86;377;444;444	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	W	392;377;444;444;377;444;444;86;432;382;423	ENSP00000381564:R392W;ENSP00000381555:R377W;ENSP00000362762:R444W;ENSP00000362759:R444W;ENSP00000381550:R377W;ENSP00000257070:R444W;ENSP00000435397:R444W;ENSP00000391071:R86W;ENSP00000381548:R432W;ENSP00000410921:R382W;ENSP00000437219:R423W	ENSP00000257070:R444W	R	-	1	2	BAI2	31980328	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	1.885000	0.39678	2.283000	0.76528	0.561000	0.74099	CGG	BAI2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000121753		0.667	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0.00	15	0	G	NM_001703		32207741	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	37.50	10	6	SNP	1.000	A
BAIAP2L1	55971	genome.wustl.edu	37	7	97937012	97937012	+	Silent	SNP	G	G	A	rs147254651		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:97937012G>A	ENST00000005260.8	-	10	1367	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D	RP4-607J23.2_ENST00000609873.1_RNA|BAIAP2L1_ENST00000462558.1_5'Flank|RP4-607J23.2_ENST00000608882.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	384	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CCTTGGACACGTCGTGTTCTC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19108	0.0		0.0	False		,,,				2504	0.001																0								G		0,4406		0,0,2203	141.0	101.0	115.0		1152	-1.4	0.0	7	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	BAIAP2L1	NM_018842.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		384/512	97937012	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1152C>T	7.37:g.97937012G>A			A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.D384	ENST00000005260.8	37	c.1152	CCDS34687.1	7																																																																																			BAIAP2L1	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000006453		0.597	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	HGNC	protein_coding	OTTHUMT00000334681.1	-	0.00	33	0	G	NM_018842		97937012	-1	tier1	rs147254651	no_errors	ENST00000005260	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.006	A
BANF2	140836	genome.wustl.edu	37	20	17705764	17705764	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:17705764G>A	ENST00000246090.5	+	3	356	c.94G>A	c.(94-96)Gcg>Acg	p.A32T	BANF2_ENST00000377805.3_Missense_Mutation_p.A32T|BANF2_ENST00000545418.2_Missense_Mutation_p.A39T	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	32						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CCATGAGCTCGCGATCAATTT	0.493																																																	0													155.0	141.0	146.0					20																	17705764		2203	4300	6503	SO:0001583	missense	0			BC054871	CCDS13129.1, CCDS54449.1	20p12.1	2007-12-17	2007-12-17	2007-12-17	ENSG00000125888	ENSG00000125888			16172	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 179"""	C20orf179			Standard	NM_178477		Approved	dJ803K15.1, BAF-L, BAFL, BAF2	uc010zrs.1	Q9H503	OTTHUMG00000031949	ENST00000246090.5:c.94G>A	20.37:g.17705764G>A	ENSP00000246090:p.Ala32Thr		D3DW25|F5H3F6|Q7Z4M6	Missense_Mutation	SNP	pfam_BAF_prot,superfamily_BAF_prot	p.A39T	ENST00000246090.5	37	c.115	CCDS13129.1	20	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782758	0.70222	.	.	ENSG00000125888	ENST00000545418;ENST00000427254;ENST00000377805;ENST00000246090	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.05	5.05	0.67936	.	0.098719	0.41396	D	0.000881	T	0.70736	0.3258	.	.	.	0.33551	D	0.59612	D;D	0.89917	1.0;0.999	D;D	0.68353	0.928;0.957	T	0.80056	-0.1542	9	0.87932	D	0	-12.7038	14.6201	0.68579	0.0:0.0:1.0:0.0	.	39;32	F5H3F6;Q9H503	.;BAFL_HUMAN	T	39;32;32;32	ENSP00000439128:A39T;ENSP00000398738:A32T;ENSP00000367036:A32T;ENSP00000246090:A32T	ENSP00000246090:A32T	A	+	1	0	BANF2	17653764	1.000000	0.71417	0.884000	0.34674	0.427000	0.31564	4.399000	0.59703	2.704000	0.92352	0.655000	0.94253	GCG	BANF2	-	pfam_BAF_prot,superfamily_BAF_prot	ENSG00000125888		0.493	BANF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BANF2	HGNC	protein_coding	OTTHUMT00000102261.2	-	0.00	37	0	G	NM_178477		17705764	+1	tier1	-	no_errors	ENST00000545418	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.903	A
BATF	10538	genome.wustl.edu	37	14	76012941	76012941	+	Missense_Mutation	SNP	C	C	T	rs559089643		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:76012941C>T	ENST00000286639.6	+	3	563	c.305C>T	c.(304-306)tCg>tTg	p.S102L	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	102					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGCACGCCCTCGCCCCCCGAG	0.647																																																	0													38.0	29.0	32.0					14																	76012941		2202	4300	6502	SO:0001583	missense	0			AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.305C>T	14.37:g.76012941C>T	ENSP00000286639:p.Ser102Leu			Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.S102L	ENST00000286639.6	37	c.305	CCDS9843.1	14	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409863	0.42715	.	.	ENSG00000156127	ENST00000286639	T	0.77620	-1.11	5.61	5.61	0.85477	.	0.284392	0.35838	N	0.002958	T	0.56156	0.1966	N	0.08118	0	0.80722	D	1	P	0.36535	0.557	B	0.17433	0.018	T	0.59968	-0.7354	10	0.26408	T	0.33	-11.0596	17.8178	0.88640	0.0:1.0:0.0:0.0	.	102	Q16520	BATF_HUMAN	L	102	ENSP00000286639:S102L	ENSP00000286639:S102L	S	+	2	0	BATF	75082694	0.775000	0.28604	0.999000	0.59377	0.149000	0.21700	6.770000	0.74990	2.636000	0.89361	0.655000	0.94253	TCG	BATF	-	NULL	ENSG00000156127		0.647	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF	HGNC	protein_coding	OTTHUMT00000413669.1	-	0.00	40	0	C	NM_006399		76012941	+1	tier1	-	no_errors	ENST00000286639	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.991	T
BATF3	55509	genome.wustl.edu	37	1	212870666	212870666	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:212870666G>T	ENST00000243440.1	-	2	313				BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3						dendritic cell differentiation (GO:0097028)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		ccttgctccaggtattacagc	0.507																																																	0																																										SO:0001627	intron_variant	0			AF255346	CCDS1508.1	1q32.3	2013-01-10			ENSG00000123685	ENSG00000123685		"""basic leucine zipper proteins"""	28915	protein-coding gene	gene with protein product	"""Jun dimerization protein 1"""	612470				10878360, 12087103	Standard	NM_018664		Approved	JUNDM1, SNFT, JDP1	uc001hjl.2	Q9NR55	OTTHUMG00000036807	ENST00000243440.1:c.91-259C>A	1.37:g.212870666G>T				RNA	SNP	-	NULL	ENST00000243440.1	37	NULL	CCDS1508.1	1																																																																																			BATF3	-	-	ENSG00000123685		0.507	BATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF3	HGNC	protein_coding	OTTHUMT00000089403.1	-	0.00	15	0	G	NM_018664		212870666	-1	tier1	-	no_errors	ENST00000478275	ensembl	human	known	74_37	rna	24.14	22	7	SNP	1.000	T
BAX	581	genome.wustl.edu	37	19	49458971	49458971	+	Frame_Shift_Del	DEL	G	G	-	rs141306106|rs398122842|rs398122841		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49458971delG	ENST00000345358.7	+	3	166	c.114delG	c.(112-114)atgfs	p.M38fs	BAX_ENST00000293288.8_Frame_Shift_Del_p.M38fs|BAX_ENST00000354470.3_Intron|BAX_ENST00000539787.1_Frame_Shift_Del_p.M38fs|BAX_ENST00000391871.3_Frame_Shift_Del_p.W21fs|BAX_ENST00000415969.2_Frame_Shift_Del_p.M38fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CAGGGCGAATGGGGGGGGAGG	0.592																																																	1	Deletion - Frameshift(1)	lung(1)											59.0	57.0	57.0					19																	49458971		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.114delG	19.37:g.49458971delG	ENSP00000263262:p.Met38fs		A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Del	DEL	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam	p.E41fs	ENST00000345358.7	37	c.114	CCDS12742.1	19																																																																																			BAX	-	NULL	ENSG00000087088		0.592	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1		0.00	53	0	G	NM_138763		49458971	+1	tier1		no_errors	ENST00000293288	ensembl	human	known	74_37	frame_shift_del	14.29	36	6	DEL	0.588	-
BAX	581	genome.wustl.edu	37	19	49459465	49459465	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49459465G>A	ENST00000345358.7	+	4	296	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	BAX_ENST00000293288.8_Missense_Mutation_p.A82T|BAX_ENST00000354470.3_Missense_Mutation_p.A33T|BAX_ENST00000539787.1_Missense_Mutation_p.A82T|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000415969.2_Missense_Mutation_p.A82T	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	82					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GATGATTGCCGCCGTGGACAC	0.567																																																	0													71.0	77.0	75.0					19																	49459465		2203	4300	6503	SO:0001583	missense	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.244G>A	19.37:g.49459465G>A	ENSP00000263262:p.Ala82Thr		A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam	p.A82T	ENST00000345358.7	37	c.244	CCDS12742.1	19	.	.	.	.	.	.	.	.	.	.	G	0.327	-0.958502	0.02267	.	.	ENSG00000087088	ENST00000539787;ENST00000345358;ENST00000415969;ENST00000354470;ENST00000293288	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	4.05	4.05	0.47172	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.354374	0.29015	N	0.013411	T	0.04770	0.0129	N	0.19112	0.55	0.28733	N	0.902377	B;P;B;P	0.42785	0.098;0.609;0.309;0.79	B;B;B;B	0.26310	0.033;0.021;0.014;0.068	T	0.31779	-0.9931	10	0.12766	T	0.61	-2.9585	12.029	0.53388	0.0:0.0:1.0:0.0	.	33;82;82;82	Q07812-4;Q07812;Q07812-8;Q07812-2	.;BAX_HUMAN;.;.	T	82;82;82;33;82	ENSP00000441413:A82T;ENSP00000263262:A82T;ENSP00000389971:A82T;ENSP00000346461:A33T;ENSP00000293288:A82T	ENSP00000293288:A82T	A	+	1	0	BAX	54151277	0.002000	0.14202	0.008000	0.14137	0.051000	0.14879	0.943000	0.29030	2.549000	0.85964	0.563000	0.77884	GCC	BAX	-	pfam_Blc2_fam,pfscan_Bcl2-like	ENSG00000087088		0.567	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1	-	0.00	63	0	G	NM_138763		49459465	+1	tier1	-	no_errors	ENST00000293288	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.006	A
BCAR3	8412	genome.wustl.edu	37	1	94041654	94041654	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:94041654C>T	ENST00000370244.1	-	10	2007	c.1719G>A	c.(1717-1719)atG>atA	p.M573I	BCAR3_ENST00000260502.6_Missense_Mutation_p.M573I|BCAR3_ENST00000370243.1_Missense_Mutation_p.M573I|BCAR3_ENST00000539242.1_Missense_Mutation_p.M249I|BCAR3_ENST00000370247.3_Missense_Mutation_p.M482I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	573	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGTTCCTCCTCATCTCTTCAG	0.507																																																	0													166.0	147.0	153.0					1																	94041654		2203	4300	6503	SO:0001583	missense	0			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1719G>A	1.37:g.94041654C>T	ENSP00000359264:p.Met573Ile		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.M573I	ENST00000370244.1	37	c.1719	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170428	0.38315	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.71	4.79	0.61399	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.428589	0.30593	N	0.009291	T	0.12944	0.0314	L	0.49350	1.555	0.31922	N	0.613262	B;B;B	0.17667	0.023;0.006;0.01	B;B;B	0.18561	0.022;0.011;0.008	T	0.07578	-1.0765	10	0.41790	T	0.15	-16.5377	14.9978	0.71446	0.0:0.9309:0.0:0.0691	.	353;573;482	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	I	482;573;573;573;249	ENSP00000359267:M482I;ENSP00000260502:M573I;ENSP00000359264:M573I;ENSP00000359263:M573I;ENSP00000441343:M249I	ENSP00000260502:M573I	M	-	3	0	BCAR3	93814242	0.971000	0.33674	0.829000	0.32907	0.457000	0.32468	0.850000	0.27737	1.391000	0.46566	0.655000	0.94253	ATG	BCAR3	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000137936		0.507	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	-	0.00	37	0	C			94041654	-1	tier1	-	no_errors	ENST00000260502	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
BCHE	590	genome.wustl.edu	37	3	165547794	165547795	+	Frame_Shift_Ins	INS	-	-	T	rs537434945		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:165547794_165547795insT	ENST00000264381.3	-	2	1193_1194	c.1027_1028insA	c.(1027-1029)accfs	p.T343fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	343					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CAAAATCTGGGTTTTTTTAAAT	0.386																																																	0			GRCh37	CI951904|CM025285	BCHE	I|M				1,4241		0,1,2120						5.6	1.0			27	2,8202		0,2,4100	no	frameshift	BCHE	NM_000055.2		0,3,6220	A1A1,A1R,RR		0.0244,0.0236,0.0241				3,12443				SO:0001589	frameshift_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1028dupA	3.37:g.165547801_165547801dupT	ENSP00000264381:p.Thr343fs		A8K7P8	Frame_Shift_Ins	INS	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.T343fs	ENST00000264381.3	37	c.1028_1027	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.386	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1		0.00	72	0	-			165547795	-1	tier1		no_errors	ENST00000264381	ensembl	human	known	74_37	frame_shift_ins	11.43	62	8	INS	0.996:0.991	T
BCKDK	10295	genome.wustl.edu	37	16	31120725	31120725	+	Missense_Mutation	SNP	G	G	A	rs73530211	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:31120725G>A	ENST00000394951.1	+	3	804	c.181G>A	c.(181-183)Gcg>Acg	p.A61T	AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Missense_Mutation_p.A61T|BCKDK_ENST00000219794.6_Missense_Mutation_p.A61T|BCKDK_ENST00000394950.3_Missense_Mutation_p.A61T			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	61					branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GGCCATCGACGCGGCAGCGGA	0.672																																																	0													26.0	27.0	27.0					16																	31120725		2197	4300	6497	SO:0001583	missense	0			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.181G>A	16.37:g.31120725G>A	ENSP00000378405:p.Ala61Thr		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C	p.A61T	ENST00000394951.1	37	c.181	CCDS10705.1	16	.	.	.	.	.	.	.	.	.	.	G	8.579	0.881856	0.17467	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.55052	0.55;0.55;0.54;0.54	5.54	4.57	0.56435	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (1);	0.564404	0.19002	N	0.125327	T	0.30696	0.0773	N	0.14661	0.345	0.25602	N	0.98659	B;B	0.15473	0.013;0.008	B;B	0.08055	0.003;0.003	T	0.16512	-1.0400	10	0.14252	T	0.57	0.0262	8.1881	0.31352	0.0799:0.0:0.7613:0.1588	.	61;61	Q96G95;O14874	.;BCKD_HUMAN	T	61	ENSP00000378405:A61T;ENSP00000219794:A61T;ENSP00000378404:A61T;ENSP00000287507:A61T	ENSP00000219794:A61T	A	+	1	0	BCKDK	31028226	0.184000	0.23200	0.985000	0.45067	0.150000	0.21749	2.200000	0.42724	1.296000	0.44742	0.655000	0.94253	GCG	BCKDK	-	NULL	ENSG00000103507		0.672	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCKDK	HGNC	protein_coding	OTTHUMT00000108514.1	-	0.00	67	0	G	NM_005881		31120725	+1	tier1	-	no_errors	ENST00000219794	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.941	A
BCL11A	53335	genome.wustl.edu	37	2	60687304	60687306	+	3'UTR	DEL	AAA	AAA	-	rs35238724|rs397872300		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:60687304_60687306delAAA	ENST00000335712.6	-	0	2968_2970				BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)						B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AACATaaaggaaaaaaaaaaaaa	0.33			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0																																										SO:0001624	3_prime_UTR_variant	0			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.*235TTT>-	2.37:g.60687313_60687315delAAA			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	RNA	DEL	-	NULL	ENST00000335712.6	37	NULL	CCDS1862.1	2																																																																																			BCL11A	-	-	ENSG00000119866		0.330	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2		0.00	26	0	AAA	NM_022893		60687306	-1	tier1		no_errors	ENST00000477659	ensembl	human	known	74_37	rna	23.81	16	5	DEL	0.436:0.471:0.209	-
BCL11A	53335	genome.wustl.edu	37	2	60687345	60687345	+	3'UTR	DEL	A	A	-	rs561054045|rs368170123	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:60687345delA	ENST00000335712.6	-	0	2929				BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)						B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			aaagaaaaagaaaaaaaaCAG	0.308			T	IGH@	B-CLL								?|AAAAAAAA|AAAAAAA|unsure	21	0.00419329	0.0151	0.0014	5008	,	,		17934	0.0		0.0	False		,,,				2504	0.0							Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0																																										SO:0001624	3_prime_UTR_variant	0			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.*194T>-	2.37:g.60687345delA			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	RNA	DEL	-	NULL	ENST00000335712.6	37	NULL	CCDS1862.1	2																																																																																			BCL11A	-	-	ENSG00000119866		0.308	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2		0.00	39	0	A	NM_022893		60687345	-1	tier1		no_errors	ENST00000477659	ensembl	human	known	74_37	rna	31.43	24	11	DEL	0.980	-
BCL2	596	genome.wustl.edu	37	18	60985684	60985684	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:60985684C>T	ENST00000398117.1	-	1	1677	c.216G>A	c.(214-216)ctG>ctA	p.L72L	BCL2_ENST00000589955.1_Silent_p.L72L|BCL2_ENST00000444484.1_Silent_p.L72L|BCL2_ENST00000333681.4_Silent_p.L72L	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	72					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)	p.L72L(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ccggggTCTGCAGCGGCGAGG	0.791			T	IGH@	"""NHL, CLL"""																																			Dom	yes		18	18q21.3	596	B-cell CLL/lymphoma 2		L	2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)											5.0	8.0	7.0					18																	60985684		1603	3485	5088	SO:0001819	synonymous_variant	0			M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	990	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 50"""	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.216G>A	18.37:g.60985684C>T			C9JHD5|P10416|Q13842|Q16197	Silent	SNP	pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_Bcl2,prints_Blc2_fam,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX	p.L72	ENST00000398117.1	37	c.216	CCDS11981.1	18																																																																																			BCL2	-	tigrfam_Bcl2/BclX	ENSG00000171791		0.791	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2	HGNC	protein_coding	OTTHUMT00000256199.1	-	0.00	25	0	C	NM_000633, NM_000657		60985684	-1	tier1	-	no_errors	ENST00000333681	ensembl	human	known	74_37	silent	43.75	9	7	SNP	0.017	T
BCL6	604	genome.wustl.edu	37	3	187440319	187440319	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:187440319G>T	ENST00000406870.2	-	10	2414	c.2048C>A	c.(2047-2049)gCc>gAc	p.A683D	BCL6_ENST00000232014.4_Missense_Mutation_p.A683D|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A627D|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	683					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTTGGTGATGGCGCCATGCTT	0.547			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													146.0	126.0	133.0					3																	187440319		2203	4300	6503	SO:0001583	missense	0				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.2048C>A	3.37:g.187440319G>T	ENSP00000384371:p.Ala683Asp		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A683D	ENST00000406870.2	37	c.2048	CCDS3289.1	3	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883007	0.72410	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08102	3.13;3.13;3.13	5.82	4.94	0.65067	.	0.096208	0.64402	D	0.000001	T	0.27454	0.0674	M	0.70275	2.135	0.80722	D	1	P;D	0.71674	0.578;0.998	B;D	0.80764	0.17;0.994	T	0.01488	-1.1342	10	0.35671	T	0.21	.	15.4107	0.74917	0.0:0.0:0.8598:0.1402	.	627;683	B8PSA7;P41182	.;BCL6_HUMAN	D	683;683;627	ENSP00000384371:A683D;ENSP00000232014:A683D;ENSP00000413122:A627D	ENSP00000232014:A683D	A	-	2	0	BCL6	188923013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	1.455000	0.47813	0.650000	0.86243	GCC	BCL6	-	NULL	ENSG00000113916		0.547	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1		0.00	55	0	G	NM_138931		187440319	-1			no_errors	ENST00000232014	ensembl	human	known	74_37	missense	6.25	44	3	SNP	1.000	T
BCL7A	605	genome.wustl.edu	37	12	122492854	122492854	+	Intron	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:122492854A>C	ENST00000261822.4	+	5	767				BCL7A_ENST00000538010.1_Silent_p.R195R	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A						negative regulation of transcription, DNA-templated (GO:0045892)			p.R195R(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GAGGTCTCAGAGGGGCAGCCA	0.557			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(17;197 467 16477 23242 44349)			Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	1	Substitution - coding silent(1)	ovary(1)											71.0	76.0	74.0					12																	122492854		2203	4300	6503	SO:0001627	intron_variant	0			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.561+22A>C	12.37:g.122492854A>C		1519	B4DJN6|B7ZB21|Q13843|Q14CT7	Silent	SNP	pfam_BCL7	p.R195	ENST00000261822.4	37	c.583	CCDS53841.1	12																																																																																			BCL7A	-	NULL	ENSG00000110987		0.557	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	BCL7A	HGNC	protein_coding	OTTHUMT00000401712.1	-	0.00	40	0	A			122492854	+1	tier1	-	no_errors	ENST00000538010	ensembl	human	known	74_37	silent	13.21	46	7	SNP	0.075	C
BCL7C	9274	genome.wustl.edu	37	16	30846161	30846161	+	3'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:30846161C>T	ENST00000380317.4	-	0	1194				BCL7C_ENST00000576194.1_5'UTR			Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C						apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			GATGTTACCGCGGTGGGTGAG	0.652																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000380317.4:c.*108G>A	16.37:g.30846161C>T			O43770|Q6PD89	RNA	SNP	-	NULL	ENST00000380317.4	37	NULL		16																																																																																			BCL7C	-	-	ENSG00000099385		0.652	BCL7C-002	KNOWN	basic	protein_coding	BCL7C	HGNC	protein_coding	OTTHUMT00000255548.2	-	0.00	52	0	C	NM_004765		30846161	-1	tier1	-	no_errors	ENST00000576194	ensembl	human	putative	74_37	rna	34.43	40	21	SNP	0.000	T
BCL9	607	genome.wustl.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0										35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs		Q5T489	Frame_Shift_Del	DEL	pfam_BCL9_beta-catenin-bd_dom	p.P516fs	ENST00000234739.3	37	c.1540	CCDS30833.1	1																																																																																			BCL9	-	NULL	ENSG00000116128		0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1		0.00	45	0	C	NM_004326		147091501	+1	tier1		no_errors	ENST00000234739	ensembl	human	known	74_37	frame_shift_del	10.53	34	4	DEL	1.000	-
BCL9L	283149	genome.wustl.edu	37	11	118770651	118770652	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:118770651_118770652insG	ENST00000334801.3	-	7	4344_4345	c.3380_3381insC	c.(3379-3381)ccafs	p.P1127fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1127	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703																																																	0										27,4235		0,27,2104						-5.2	0.6			35	32,8218		0,32,4093	no	frameshift	BCL9L	NM_182557.2		0,59,6197	A1A1,A1R,RR		0.3879,0.6335,0.4715				59,12453				SO:0001589	frameshift_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3381dupC	11.37:g.118770659_118770659dupG	ENSP00000335320:p.Pro1127fs		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	pfam_BCL9_beta-catenin-bd_dom	p.P1128fs	ENST00000334801.3	37	c.3381_3380	CCDS8403.1	11																																																																																			BCL9L	-	NULL	ENSG00000186174		0.703	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1		0.00	64	0	-	NM_182557		118770652	-1	tier1		no_errors	ENST00000334801	ensembl	human	known	74_37	frame_shift_ins	14.04	49	8	INS	0.988:0.996	G
BDNF	627	genome.wustl.edu	37	11	27679158	27679158	+	3'UTR	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:27679158T>G	ENST00000525528.1	-	0	2047				BDNF_ENST00000532997.1_3'UTR|BDNF_ENST00000525950.1_3'UTR|BDNF_ENST00000533131.1_3'UTR|BDNF_ENST00000395981.3_3'UTR|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000420794.1_3'UTR|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395983.3_3'UTR|BDNF_ENST00000395980.2_3'UTR|BDNF_ENST00000356660.4_3'UTR|BDNF_ENST00000314915.6_3'UTR|BDNF_ENST00000395986.2_3'UTR|BDNF_ENST00000533246.1_3'UTR|BDNF_ENST00000438929.1_3'UTR|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000530861.1_3'UTR|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395978.3_3'UTR|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000418212.1_3'UTR|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000439476.2_3'UTR|BDNF-AS_ENST00000499008.3_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor						axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						TAATGCAGACTTTTTAAGTTG	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.*210A>C	11.37:g.27679158T>G			A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	RNA	SNP	-	NULL	ENST00000525528.1	37	NULL	CCDS7866.1	11																																																																																			BDNF	-	-	ENSG00000176697		0.328	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BDNF	HGNC	protein_coding	OTTHUMT00000388135.1	-	0.00	38	0	T	NM_170735		27679158	-1	tier1	-	no_errors	ENST00000584049	ensembl	human	known	74_37	rna	25.00	21	7	SNP	1.000	G
BECN1	8678	genome.wustl.edu	37	17	40970681	40970681	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:40970681delA	ENST00000361523.4	-	6	501	c.369delT	c.(367-369)tttfs	p.F123fs	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Frame_Shift_Del_p.F123fs	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	123					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ACATGATGTCAAAAAGGTCCC	0.542																																																	0													79.0	71.0	74.0					17																	40970681		2203	4300	6503	SO:0001589	frameshift_variant	0			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.369delT	17.37:g.40970681delA	ENSP00000355231:p.Phe123fs		B2R6N7|O75595|Q9UNA8	Frame_Shift_Del	DEL	pfam_Beclin_fam,superfamily_Translin	p.F123fs	ENST00000361523.4	37	c.369	CCDS11441.1	17																																																																																			BECN1	-	pfam_Beclin_fam	ENSG00000126581		0.542	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BECN1	HGNC	protein_coding	OTTHUMT00000452405.1		0.00	46	0	A	NM_003766		40970681	-1	tier1		no_errors	ENST00000361523	ensembl	human	known	74_37	frame_shift_del	10.00	27	3	DEL	1.000	-
BICD1	636	genome.wustl.edu	37	12	32480649	32480649	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:32480649C>T	ENST00000281474.5	+	5	1363	c.1260C>T	c.(1258-1260)taC>taT	p.Y420Y	BICD1_ENST00000548411.1_Silent_p.Y420Y	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	420					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AATGCAAATACAGGGTGGCAG	0.463																																																	0													60.0	57.0	58.0					12																	32480649		2203	4300	6503	SO:0001819	synonymous_variant	0			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1260C>T	12.37:g.32480649C>T			A8K2C3|F8W113|O43892|O43893	Silent	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom	p.Y420	ENST00000281474.5	37	c.1260	CCDS8726.1	12																																																																																			BICD1	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000151746		0.463	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	-	0.00	30	0	C	NM_001714		32480649	+1	tier1	-	no_errors	ENST00000281474	ensembl	human	known	74_37	silent	34.15	26	14	SNP	1.000	T
BID	637	genome.wustl.edu	37	22	18222896	18222896	+	Intron	SNP	C	C	T	rs374122732		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:18222896C>T	ENST00000399774.3	-	4	393				BID_ENST00000342111.5_Silent_p.A90A|BID_ENST00000473439.1_Intron|BID_ENST00000317361.7_Intron|BID_ENST00000551952.1_Intron|BID_ENST00000399765.1_Intron|BID_ENST00000399767.1_Intron	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		CGCTCCCTGCCGCCTCCGTTT	0.577																																																	0								C	,,	0,1752		0,0,876	29.0	30.0	30.0		,,	-1.0	0.0	22		30	1,3979		0,1,1989	no	intron,intron,intron	BID	NM_001196.3,NM_197966.2,NM_197967.2	,,	0,1,2865	TT,TC,CC		0.0251,0.0,0.0174	,,	,,	18222896	1,5731	876	1990	2866	SO:0001627	intron_variant	0			AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.224-642G>A	22.37:g.18222896C>T			Q549M7|Q71T04|Q7Z4M9|Q8IY86	Silent	SNP	pfam_BID	p.A90	ENST00000399774.3	37	c.270	CCDS13748.1	22																																																																																			BID	-	NULL	ENSG00000015475		0.577	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BID	HGNC	protein_coding	OTTHUMT00000316178.1	-	0.00	75	0	C	NM_197966		18222896	-1	tier1	-	no_errors	ENST00000342111	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.000	T
BLK	640	genome.wustl.edu	37	8	11400805	11400805	+	Frame_Shift_Del	DEL	C	C	-	rs138428717	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:11400805delC	ENST00000259089.4	+	2	664	c.72delC	c.(70-72)agcfs	p.S24fs	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	24					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GCCAATGGAGCCCCCTGAAGG	0.572																																																	0													73.0	76.0	75.0					8																	11400805		2203	4300	6503	SO:0001589	frameshift_variant	0			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.72delC	8.37:g.11400805delC	ENSP00000259089:p.Ser24fs		Q16291|Q96IN1	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.L26fs	ENST00000259089.4	37	c.72	CCDS5982.1	8																																																																																			BLK	-	NULL	ENSG00000136573		0.572	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLK	HGNC	protein_coding	OTTHUMT00000207460.1		0.00	41	0	C			11400805	+1	tier1		no_errors	ENST00000259089	ensembl	human	known	74_37	frame_shift_del	8.11	34	3	DEL	0.906	-
BLNK	29760	genome.wustl.edu	37	10	97975102	97975102	+	Silent	SNP	G	G	A	rs377748729		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:97975102G>A	ENST00000224337.5	-	8	792	c.651C>T	c.(649-651)ccC>ccT	p.P217P	BLNK_ENST00000413476.2_Silent_p.P217P|BLNK_ENST00000371176.2_Intron|BLNK_ENST00000427367.2_Silent_p.P217P	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	217	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GAGGAGAGGCGGGCGTTGAGG	0.353																																																	0								G	,	0,4406		0,0,2203	120.0	110.0	113.0		,651	-6.2	0.0	10		113	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	BLNK	NM_001114094.1,NM_013314.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,217/457	97975102	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.651C>T	10.37:g.97975102G>A			O75498|O75499|Q2MD49	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.P217	ENST00000224337.5	37	c.651	CCDS7446.1	10																																																																																			BLNK	-	NULL	ENSG00000095585		0.353	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	-	0.00	135	0	G	NM_013314		97975102	-1	tier1	-	no_errors	ENST00000224337	ensembl	human	known	74_37	silent	14.02	92	15	SNP	0.000	A
BMS1P17	101101776	genome.wustl.edu	37	14	19889605	19889605	+	lincRNA	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:19889605G>A	ENST00000552602.1	-	0	293																											GCCTCGCCGCGCGCTGTCTCA	0.677																																																	0																																												0																															14.37:g.19889605G>A				RNA	SNP	-	NULL	ENST00000552602.1	37	NULL		14																																																																																			BMS1P18	-	-	ENSG00000215394		0.677	CTD-2314B22.3-003	KNOWN	basic	lincRNA	BMS1P18	HGNC	lincRNA	OTTHUMT00000409412.1	-	0.00	42	0	G			19889605	+1	tier1	-	no_errors	ENST00000551908	ensembl	human	known	74_37	rna	15.38	33	6	SNP	0.004	A
BNC2	54796	genome.wustl.edu	37	9	16436056	16436056	+	Silent	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:16436056A>T	ENST00000380672.4	-	6	2193	c.2136T>A	c.(2134-2136)acT>acA	p.T712T	BNC2_ENST00000545497.1_Silent_p.T617T|BNC2_ENST00000380666.2_Silent_p.T712T|BNC2_ENST00000380667.2_Silent_p.T645T	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGTCTTCAGAAGTCATGCTGT	0.512																																																	0													117.0	112.0	114.0					9																	16436056		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2136T>A	9.37:g.16436056A>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T712	ENST00000380672.4	37	c.2136	CCDS6482.2	9																																																																																			BNC2	-	NULL	ENSG00000173068		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	-	0.00	89	0	A	NM_017637		16436056	-1	tier1	-	no_errors	ENST00000380672	ensembl	human	known	74_37	silent	26.87	49	18	SNP	0.358	T
BNIP3	664	genome.wustl.edu	37	10	133787443	133787443	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:133787443G>T	ENST00000368636.4	-	2	175	c.51C>A	c.(49-51)tcC>tcA	p.S17S	BNIP3_ENST00000540159.1_Silent_p.S17S	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	17					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTCTACCCAGGAGCCTGATG	0.493																																																	0													48.0	53.0	51.0					10																	133787443		2203	4300	6503	SO:0001819	synonymous_variant	0			U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.51C>A	10.37:g.133787443G>T			O14620|Q96GP0	Silent	SNP	pfam_BNIP3	p.S17	ENST00000368636.4	37	c.51	CCDS7663.1	10																																																																																			BNIP3	-	pfam_BNIP3	ENSG00000176171		0.493	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3	HGNC	protein_coding	OTTHUMT00000051039.1	-	0.00	74	0	G			133787443	-1	tier1	-	no_errors	ENST00000368636	ensembl	human	known	74_37	silent	42.11	33	24	SNP	1.000	T
BOC	91653	genome.wustl.edu	37	3	112997656	112997656	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:112997656C>T	ENST00000495514.1	+	11	2517				BOC_ENST00000273395.4_Intron|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Intron			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CAGGGACGGACGCGCAGTCAG	0.607																																																	0													24.0	26.0	25.0					3																	112997656		2127	4152	6279	SO:0001627	intron_variant	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1813+26C>T	3.37:g.112997656C>T			A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	RNA	SNP	-	NULL	ENST00000495514.1	37	NULL	CCDS2971.1	3																																																																																			BOC	-	-	ENSG00000144857		0.607	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	-	0.00	75	0	C	NM_033254		112997656	+1	tier1	-	no_errors	ENST00000497495	ensembl	human	known	74_37	rna	14.81	69	12	SNP	0.000	T
BOD1L1	259282	genome.wustl.edu	37	4	13601800	13601800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:13601800G>A	ENST00000040738.5	-	10	6859	c.6724C>T	c.(6724-6726)Cga>Tga	p.R2242*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2242						nucleus (GO:0005634)	DNA binding (GO:0003677)										GTGCCAGCTCGCTCATTTTCA	0.502																																																	0													85.0	72.0	76.0					4																	13601800		2203	4300	6503	SO:0001587	stop_gained	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6724C>T	4.37:g.13601800G>A	ENSP00000040738:p.Arg2242*		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	NULL	p.R2242*	ENST00000040738.5	37	c.6724	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	45	11.430887	0.99560	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.05	3.3	0.37823	.	1.670650	0.03954	N	0.288916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.0326	6.3527	0.21385	0.1721:0.2306:0.5973:0.0	.	.	.	.	X	2242	.	ENSP00000040738:R2242X	R	-	1	2	BOD1L	13210898	0.003000	0.15002	0.001000	0.08648	0.028000	0.11728	1.318000	0.33643	1.124000	0.41980	0.650000	0.86243	CGA	BOD1L1	-	NULL	ENSG00000038219		0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0.00	58	0	G	NM_148894		13601800	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	nonsense	16.67	45	9	SNP	0.000	A
BOLA1	51027	genome.wustl.edu	37	1	149871915	149871915	+	Silent	SNP	C	C	T	rs149389122		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:149871915C>T	ENST00000369153.2	+	3	967	c.303C>T	c.(301-303)gtC>gtT	p.V101V	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Silent_p.V101V|BOLA1_ENST00000369150.1_Silent_p.V101V			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	101						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GAGGTCCGGTCCATGCGCTGG	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14067	0.0		0.0	False		,,,				2504	0.0																0								C		2,4404	4.2+/-10.8	0,2,2201	30.0	32.0	31.0		303	-1.2	0.8	1	dbSNP_134	31	0,8600		0,0,4300	no	coding-synonymous	BOLA1	NM_016074.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		101/138	149871915	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.303C>T	1.37:g.149871915C>T			B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	pfam_BolA,superfamily_BolA	p.V101	ENST00000369153.2	37	c.303	CCDS939.1	1																																																																																			BOLA1	-	pfam_BolA,superfamily_BolA	ENSG00000178096		0.652	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BOLA1	HGNC	protein_coding	OTTHUMT00000033443.2	-	0.00	53	0	C	NM_016074		149871915	+1	tier1	rs149389122	no_errors	ENST00000369150	ensembl	human	known	74_37	silent	23.53	39	12	SNP	0.722	T
BPIFB4	149954	genome.wustl.edu	37	20	31671214	31671214	+	Frame_Shift_Del	DEL	C	C	-	rs139974951	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:31671214delC	ENST00000375483.3	+	3	211	c.211delC	c.(211-213)cccfs	p.P73fs		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	73						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.V35fs*9(1)									TGTCCGAGGACCCCCCCCAGT	0.493																																																	1	Insertion - Frameshift(1)	ovary(1)											87.0	85.0	86.0					20																	31671214		2203	4300	6503	SO:0001589	frameshift_variant	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.211delC	20.37:g.31671214delC	ENSP00000364632:p.Pro73fs		Q5TDX6	Frame_Shift_Del	DEL	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P73fs	ENST00000375483.3	37	c.211	CCDS13213.2	20																																																																																			BPIFB4	-	NULL	ENSG00000186191		0.493	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5		0.00	48	0	C	NM_182519		31671214	+1	tier1		no_errors	ENST00000375483	ensembl	human	known	74_37	frame_shift_del	24.14	22	7	DEL	0.030	-
BRD8	10902	genome.wustl.edu	37	5	137495862	137495862	+	Splice_Site	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:137495862G>A	ENST00000254900.5	-	19	2799	c.2428C>T	c.(2428-2430)Caa>Taa	p.Q810*	BRD8_ENST00000402931.1_Splice_Site_p.Q810*|BRD8_ENST00000230901.5_Splice_Site_p.Q883*|BRD8_ENST00000455658.2_Splice_Site_p.Q769*|BRD8_ENST00000411594.2_Splice_Site_p.Q813*|BRD8_ENST00000515014.1_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	810					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCAAGAATTGCTGTAGGGAG	0.433																																																	0													110.0	105.0	107.0					5																	137495862		2203	4300	6503	SO:0001630	splice_region_variant	0			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2428-1C>T	5.37:g.137495862G>A			O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Nonsense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q810*	ENST00000254900.5	37	c.2428	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	G	43	9.837326	0.99276	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-18.7527	17.4533	0.87599	0.0:0.0:1.0:0.0	.	.	.	.	X	810;839;808;883;810;813;704;769	.	ENSP00000230901:Q883X	Q	-	1	0	BRD8	137523761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.427000	0.97472	2.704000	0.92352	0.561000	0.74099	CAA	BRD8	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000112983		0.433	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	-	0.00	46	0	G	NM_006696	Nonsense_Mutation	137495862	-1	tier1	-	no_errors	ENST00000254900	ensembl	human	known	74_37	nonsense	10.87	41	5	SNP	1.000	A
BRINP3	339479	genome.wustl.edu	37	1	190067209	190067209	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:190067209T>C	ENST00000367462.3	-	8	2471	c.2240A>G	c.(2239-2241)cAg>cGg	p.Q747R	BRINP3_ENST00000534846.1_Missense_Mutation_p.Q645R	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	747					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.Q747P(1)									ATTAAACGCCTGCAGAGCAGA	0.438																																																	1	Substitution - Missense(1)	lung(1)											137.0	133.0	134.0					1																	190067209		2203	4300	6503	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2240A>G	1.37:g.190067209T>C	ENSP00000356432:p.Gln747Arg		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.Q747R	ENST00000367462.3	37	c.2240	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623035	0.46840	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18016	2.51;2.24	5.72	5.72	0.89469	.	0.059118	0.64402	D	0.000001	T	0.10035	0.0246	N	0.11927	0.2	0.58432	D	0.999992	B;B	0.24186	0.069;0.099	B;B	0.20767	0.031;0.014	T	0.26121	-1.0112	10	0.15066	T	0.55	.	13.9511	0.64118	0.0:0.0:0.0:1.0	.	645;747	B7Z260;Q76B58	.;FAM5C_HUMAN	R	747;645	ENSP00000356432:Q747R;ENSP00000438022:Q645R	ENSP00000356432:Q747R	Q	-	2	0	FAM5C	188333832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.969000	0.63735	2.176000	0.68965	0.528000	0.53228	CAG	BRINP3	-	NULL	ENSG00000162670		0.438	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1		0.00	14	0	T	NM_199051		190067209	-1			no_errors	ENST00000367462	ensembl	human	known	74_37	missense	18.18	9	2	SNP	1.000	C
BRWD1	54014	genome.wustl.edu	37	21	40619643	40619643	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:40619643G>A	ENST00000333229.2	-	21	2792	c.2465C>T	c.(2464-2466)tCa>tTa	p.S822L	BRWD1_ENST00000342449.3_Missense_Mutation_p.S822L|BRWD1_ENST00000380800.3_Missense_Mutation_p.S822L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	822	Poly-Ser.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TACAGAGCTTGAAGACTCATT	0.333																																					Melanoma(170;988 1986 4794 16843 39731)												0													87.0	82.0	84.0					21																	40619643		2203	4300	6503	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2465C>T	21.37:g.40619643G>A	ENSP00000330753:p.Ser822Leu		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S822L	ENST00000333229.2	37	c.2465	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667053	0.47677	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.55930	0.49;0.51;0.59	5.44	4.32	0.51571	.	0.630652	0.14230	N	0.332827	T	0.41719	0.1171	L	0.45051	1.395	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.002	T	0.43278	-0.9401	10	0.48119	T	0.1	-6.4689	5.8809	0.18854	0.1883:0.0:0.8117:0.0	.	822;822	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	L	822	ENSP00000330753:S822L;ENSP00000344333:S822L;ENSP00000370178:S822L	ENSP00000330753:S822L	S	-	2	0	BRWD1	39541513	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	3.533000	0.53561	2.711000	0.92665	0.591000	0.81541	TCA	BRWD1	-	NULL	ENSG00000185658		0.333	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	-	0.00	55	0	G	NM_033656		40619643	-1	tier1	-	no_errors	ENST00000333229	ensembl	human	known	74_37	missense	25.00	57	19	SNP	1.000	A
BSG	682	genome.wustl.edu	37	19	581348	581348	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:581348G>A	ENST00000333511.3	+	6	896	c.826G>A	c.(826-828)Gtg>Atg	p.V276M	BSG_ENST00000353555.4_Missense_Mutation_p.V160M|BSG_ENST00000346916.4_Missense_Mutation_p.V96M|BSG_ENST00000545507.2_Missense_Mutation_p.V67M	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	276	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTTCTTCGTGAGTTCCTC	0.637																																																	0													61.0	64.0	63.0					19																	581348		2203	4300	6503	SO:0001583	missense	0			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.826G>A	19.37:g.581348G>A	ENSP00000333769:p.Val276Met		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V276M	ENST00000333511.3	37	c.826	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	G	16.93	3.256818	0.59321	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.70164	-0.46;-0.46;-0.46	3.6	0.181	0.15073	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.136425	0.45867	D	0.000338	T	0.73353	0.3576	M	0.66506	2.035	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993	D;D;D;D;P	0.76575	0.98;0.96;0.988;0.96;0.744	T	0.60727	-0.7206	10	0.51188	T	0.08	-27.1726	5.6781	0.17759	0.5575:0.0:0.4425:0.0	.	160;276;160;276;96	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	M	96;67;276;160	ENSP00000344707:V96M;ENSP00000333769:V276M;ENSP00000343809:V160M	ENSP00000333769:V276M	V	+	1	0	BSG	532348	0.904000	0.30761	0.002000	0.10522	0.042000	0.13812	3.031000	0.49728	0.311000	0.23014	0.462000	0.41574	GTG	BSG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000172270		0.637	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	-	0.00	77	0	G	NM_001728		581348	+1	tier1	-	no_errors	ENST00000333511	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.042	A
BTAF1	9044	genome.wustl.edu	37	10	93756247	93756247	+	Frame_Shift_Del	DEL	T	T	-	rs368851377		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:93756247delT	ENST00000265990.6	+	24	3739	c.3431delT	c.(3430-3432)attfs	p.I1144fs	BTAF1_ENST00000544642.1_5'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1144					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACAATGAATATTTTTTTGGAG	0.433																																																	0													118.0	109.0	112.0					10																	93756247		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3431delT	10.37:g.93756247delT	ENSP00000265990:p.Ile1144fs		B4E0W6|O43578	Frame_Shift_Del	DEL	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1146fs	ENST00000265990.6	37	c.3431	CCDS7419.1	10																																																																																			BTAF1	-	superfamily_ARM-type_fold	ENSG00000095564		0.433	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4		0.00	54	0	T	NM_003972		93756247	+1	tier1		no_errors	ENST00000265990	ensembl	human	known	74_37	frame_shift_del	27.50	29	11	DEL	1.000	-
BTBD1	53339	genome.wustl.edu	37	15	83699022	83699022	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:83699022A>G	ENST00000261721.4	-	5	1123	c.921T>C	c.(919-921)ttT>ttC	p.F307F	BTBD1_ENST00000379403.2_Silent_p.F307F|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	307					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GGTTGACAGTAAAATGAAGAA	0.403																																																	0													149.0	150.0	150.0					15																	83699022		2203	4300	6503	SO:0001819	synonymous_variant	0			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.921T>C	15.37:g.83699022A>G			A6NMI8|Q9BX71|Q9NWN4	Silent	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.F307	ENST00000261721.4	37	c.921	CCDS10322.1	15																																																																																			BTBD1	-	NULL	ENSG00000064726		0.403	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD1	HGNC	protein_coding	OTTHUMT00000304008.1	-	0.00	46	0	A			83699022	-1	tier1	-	no_errors	ENST00000261721	ensembl	human	known	74_37	silent	13.16	33	5	SNP	0.994	G
MALRD1	340895	genome.wustl.edu	37	10	19612935	19612935	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:19612935C>T	ENST00000454679.2	+	7	1365	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D				Q5VYJ5	MALR1_HUMAN		455	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						AATTTGGTGACACGGCTGACA	0.443																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000454679.2:c.1365C>T	10.37:g.19612935C>T			B7ZBP2	Silent	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom	p.D455	ENST00000454679.2	37	c.1365		10																																																																																			C10orf112	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000204740		0.443	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		-	0.00	70	0	C			19612935	+1	tier1	-	no_errors	ENST00000454679	ensembl	human	known	74_37	silent	10.53	51	6	SNP	0.812	T
C10orf90	118611	genome.wustl.edu	37	10	128193531	128193531	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:128193531G>A	ENST00000284694.7	-	3	358	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	C10orf90_ENST00000356858.3_Missense_Mutation_p.R33C|C10orf90_ENST00000544758.1_Missense_Mutation_p.R177C|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.R80C|C10orf90_ENST00000392694.1_Missense_Mutation_p.R33C	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	80					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGATGTGCACGAGACTGAGCA	0.498																																																	0													150.0	124.0	133.0					10																	128193531		2203	4300	6503	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.238C>T	10.37:g.128193531G>A	ENSP00000284694:p.Arg80Cys		B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.R177C	ENST00000284694.7	37	c.529	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632657	0.47049	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.23552	2.22;2.22;2.22;2.22;1.9	4.15	-0.314	0.12750	.	2.065870	0.02049	N	0.049907	T	0.29158	0.0725	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D	0.71674	0.996;0.998;0.996;0.996;0.996	P;P;P;P;P	0.51324	0.648;0.666;0.648;0.648;0.648	T	0.28839	-1.0031	10	0.87932	D	0	1.5929	7.3821	0.26862	0.0:0.2584:0.229:0.5126	.	177;177;33;80;80	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	C	33;80;80;177;80;33;33	ENSP00000284694:R80C;ENSP00000398786:R80C;ENSP00000444369:R177C;ENSP00000405995:R80C;ENSP00000376459:R33C	ENSP00000284694:R80C	R	-	1	0	C10orf90	128183521	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.209000	0.09358	0.060000	0.16281	0.561000	0.74099	CGT	C10orf90	-	NULL	ENSG00000154493		0.498	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		-	0.00	31	0	G	NM_001004298		128193531	-1	tier1	-	no_errors	ENST00000544758	ensembl	human	known	74_37	missense	17.50	33	7	SNP	0.000	A
LSP1	4046	genome.wustl.edu	37	11	1911130	1911130	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:1911130G>A	ENST00000311604.3	+	11	1208				LSP1_ENST00000381775.1_Intron|LSP1_ENST00000405957.2_Intron|C11orf89_ENST00000391480.1_Missense_Mutation_p.R229C|LSP1_ENST00000406638.2_Intron|LSP1_ENST00000485341.1_Intron	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1						cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGCAGTGGGCGGATGTGAGCC	0.692																																																	0																																										SO:0001627	intron_variant	0			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.1018-1873G>A	11.37:g.1911130G>A			B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	NULL	p.R229C	ENST00000311604.3	37	c.685	CCDS31334.1	11	.	.	.	.	.	.	.	.	.	.	.	12.50	1.956478	0.34565	.	.	ENSG00000184682	ENST00000391480	.	.	.	3.44	3.44	0.39384	.	.	.	.	.	T	0.60547	0.2277	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62272	-0.6889	5	0.56958	D	0.05	-8.7993	6.8373	0.23943	0.1305:0.0:0.8695:0.0	.	.	.	.	C	229	.	ENSP00000375311:R229C	R	-	1	0	C11orf89	1867706	0.007000	0.16637	0.753000	0.31225	0.085000	0.17905	1.686000	0.37669	1.933000	0.56026	0.305000	0.20034	CGC	C11orf89	-	NULL	ENSG00000184682		0.692	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf89	HGNC	protein_coding	OTTHUMT00000034045.3	-	0.00	86	0	G	NM_002339		1911130	-1	tier1	-	no_errors	ENST00000391480	ensembl	human	known	74_37	missense	26.83	60	22	SNP	0.966	A
C14orf182	283551	genome.wustl.edu	37	14	50470550	50470550	+	5'UTR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:50470550delT	ENST00000529902.1	-	0	2687				C14orf182_ENST00000399206.1_Intron			A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182											large_intestine(2)|urinary_tract(1)	3						GGGAAGTGGCTTTTTTTTTTT	0.453																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000529902.1:c.-1592A>-	14.37:g.50470550delT			A8MYX4	RNA	DEL	-	NULL	ENST00000529902.1	37	NULL		14																																																																																			C14orf182	-	-	ENSG00000214900		0.453	C14orf182-004	KNOWN	basic	processed_transcript	C14orf182	HGNC	protein_coding	OTTHUMT00000395721.1		0.00	41	0	T	NM_001012706		50470550	-1	tier1		no_errors	ENST00000529902	ensembl	human	known	74_37	rna	28.95	27	11	DEL	0.000	-
C15orf41	84529	genome.wustl.edu	37	15	36984338	36984338	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:36984338C>T	ENST00000566621.1	+	7	688	c.438C>T	c.(436-438)aaC>aaT	p.N146N	C15orf41_ENST00000567389.1_Silent_p.N48N|C15orf41_ENST00000562877.1_Silent_p.N48N|C15orf41_ENST00000569302.1_Silent_p.N146N|C15orf41_ENST00000338183.4_Silent_p.N48N|C15orf41_ENST00000437989.2_Silent_p.N146N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	146										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GCATTGTGAACGACTGCTGTT	0.428																																																	0													95.0	87.0	90.0					15																	36984338		1861	4091	5952	SO:0001819	synonymous_variant	0			BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.438C>T	15.37:g.36984338C>T			B2RD87	Silent	SNP	NULL	p.N146	ENST00000566621.1	37	c.438	CCDS45215.1	15																																																																																			C15orf41	-	NULL	ENSG00000186073		0.428	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf41	HGNC	protein_coding	OTTHUMT00000419741.1	-	0.00	49	0	C	NM_032499		36984338	+1	tier1	-	no_errors	ENST00000437989	ensembl	human	known	74_37	silent	14.29	54	9	SNP	0.520	T
C17orf74	201243	genome.wustl.edu	37	17	7329696	7329696	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7329696G>A	ENST00000333870.3	+	3	460	c.386G>A	c.(385-387)cGc>cAc	p.R129H	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	129	Arg-rich.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				cgccgccgccgccgccaccgc	0.597																																																	0													50.0	59.0	56.0					17																	7329696		2021	4134	6155	SO:0001583	missense	0			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.386G>A	17.37:g.7329696G>A	ENSP00000328061:p.Arg129His			Missense_Mutation	SNP	NULL	p.R129H	ENST00000333870.3	37	c.386	CCDS42255.1	17	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622704	0.46840	.	.	ENSG00000184560	ENST00000333870	T	0.32515	1.45	3.93	-0.65	0.11457	.	0.572645	0.14001	N	0.348101	T	0.12475	0.0303	N	0.14661	0.345	0.09310	N	1	B	0.28636	0.218	B	0.16289	0.015	T	0.16928	-1.0386	10	0.30078	T	0.28	-6.2166	4.0508	0.09795	0.3123:0.1749:0.5128:0.0	.	129	Q0P670	CQ074_HUMAN	H	129	ENSP00000328061:R129H	ENSP00000328061:R129H	R	+	2	0	C17orf74	7270420	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.375000	0.02563	-0.161000	0.10983	0.491000	0.48974	CGC	C17orf74	-	NULL	ENSG00000184560		0.597	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf74	HGNC	protein_coding	OTTHUMT00000440933.2	-	0.00	58	0	G	NM_175734		7329696	+1	tier1	-	no_errors	ENST00000333870	ensembl	human	known	74_37	missense	23.91	33	11	SNP	0.000	A
C17orf62	79415	genome.wustl.edu	37	17	80401904	80401904	+	Silent	SNP	G	G	A	rs368098528		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:80401904G>A	ENST00000437807.2	-	8	857	c.540C>T	c.(538-540)gcC>gcT	p.A180A	C17orf62_ENST00000578919.1_Silent_p.A180A|C17orf62_ENST00000577732.1_Silent_p.A180A|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000306645.5_Silent_p.A180A|C17orf62_ENST00000585080.1_Silent_p.A180A|C17orf62_ENST00000434650.2_Silent_p.A166A|C17orf62_ENST00000577436.1_Silent_p.A166A|C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000342572.8_Silent_p.A56A|C17orf62_ENST00000585064.1_Silent_p.A180A|C17orf62_ENST00000336995.7_Missense_Mutation_p.P32L	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	180						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGGTCACCGGCCTCACTGT	0.642																																																	0								G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	108.0	103.0	105.0		540,540,498,540,540,540,540	-4.8	0.0	17		105	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	C17orf62	NM_001033046.3,NM_001100407.2,NM_001100408.2,NM_001193653.1,NM_001193654.1,NM_001193655.1,NM_001193657.1	,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	180/188,180/188,166/174,180/188,180/188,180/188,180/188	80401904	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.540C>T	17.37:g.80401904G>A			E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.P32L	ENST00000437807.2	37	c.95	CCDS32776.1	17	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267920	0.40095	2.27E-4	0.0	ENSG00000178927	ENST00000342572;ENST00000536759;ENST00000336995	.	.	.	4.98	-4.76	0.03229	.	.	.	.	.	T	0.14657	0.0354	.	.	.	0.19575	N	0.999967	P	0.42161	0.772	B	0.31290	0.127	T	0.06752	-1.0809	7	0.54805	T	0.06	.	4.2927	0.10886	0.5274:0.0996:0.2722:0.1009	.	70	Q8NEZ9	.	L	70;37;32	.	ENSP00000337560:P32L	P	-	2	0	C17orf62	77995193	0.000000	0.05858	0.017000	0.16124	0.202000	0.24057	-1.777000	0.01780	-1.411000	0.02032	0.561000	0.74099	CCG	C17orf62	-	NULL	ENSG00000178927		0.642	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	-	0.00	88	0	G	NM_001033046		80401904	-1	tier1	-	no_errors	ENST00000336995	ensembl	human	known	74_37	missense	14.95	91	16	SNP	0.003	A
C18orf25	147339	genome.wustl.edu	37	18	43843065	43843065	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:43843065G>A	ENST00000282059.6	+	5	1570	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	C18orf25_ENST00000321319.6_Missense_Mutation_p.R338H	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	399										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GATAGCAGGCGTAAATACCTA	0.478																																																	0													58.0	59.0	59.0					18																	43843065		2023	4188	6211	SO:0001583	missense	0			AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.1196G>A	18.37:g.43843065G>A	ENSP00000282059:p.Arg399His		A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	NULL	p.R399H	ENST00000282059.6	37	c.1196	CCDS42430.1	18	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719938	0.30503	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.31	5.31	0.75309	.	0.056270	0.64402	D	0.000001	T	0.55465	0.1922	L	0.38531	1.155	0.53005	D	0.999969	B;B	0.28512	0.059;0.214	B;B	0.27715	0.008;0.082	T	0.52313	-0.8592	9	0.36615	T	0.2	-6.4947	18.9981	0.92821	0.0:0.0:1.0:0.0	.	338;399	Q96B23-2;Q96B23	.;CR025_HUMAN	H	399;338	.	ENSP00000282059:R399H	R	+	2	0	C18orf25	42097063	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.991000	0.63883	2.476000	0.83614	0.563000	0.77884	CGT	C18orf25	-	NULL	ENSG00000152242		0.478	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf25	HGNC	protein_coding	OTTHUMT00000445242.1		0.00	49	0	G	NM_145055		43843065	+1			no_errors	ENST00000282059	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A
C19orf70	125988	genome.wustl.edu	37	19	5679654	5679654	+	Frame_Shift_Del	DEL	G	G	-	rs201308097		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:5679654delG	ENST00000309324.4	-	2	559	c.150delC	c.(148-150)cccfs	p.P50fs	C19orf70_ENST00000587950.1_Frame_Shift_Del_p.P72fs|HSD11B1L_ENST00000301382.4_5'Flank|C19orf70_ENST00000587589.1_Frame_Shift_Del_p.P50fs|HSD11B1L_ENST00000423665.2_5'Flank|HSD11B1L_ENST00000339423.2_5'Flank|HSD11B1L_ENST00000342970.2_5'Flank|HSD11B1L_ENST00000422535.2_5'Flank|HSD11B1L_ENST00000581521.1_5'Flank|RPL36_ENST00000579649.1_Intron|C19orf70_ENST00000590389.1_Frame_Shift_Del_p.P72fs|HSD11B1L_ENST00000581893.1_5'Flank|HSD11B1L_ENST00000411793.2_5'Flank|C19orf70_ENST00000585605.1_5'UTR|HSD11B1L_ENST00000577917.1_5'Flank|RPL36_ENST00000577222.1_5'Flank|HSD11B1L_ENST00000581773.1_5'Flank|HSD11B1L_ENST00000583928.1_5'Flank	NM_205767.1	NP_991330.1	Q5XKP0	QIL1_HUMAN	chromosome 19 open reading frame 70	50						mitochondrion (GO:0005739)				endometrium(1)|lung(1)	2						GGTACATGGCGGGGGGGACCA	0.662																																																	0													49.0	46.0	47.0					19																	5679654		2203	4299	6502	SO:0001589	frameshift_variant	0			BC009557	CCDS12143.1	19p13.3	2012-10-26			ENSG00000174917	ENSG00000174917			33702	protein-coding gene	gene with protein product						14702039, 17353931	Standard	NM_205767		Approved	QIL1, P117	uc002mch.1	Q5XKP0		ENST00000309324.4:c.150delC	19.37:g.5679654delG	ENSP00000309561:p.Pro50fs		Q86YE5	Frame_Shift_Del	DEL	NULL	p.A51fs	ENST00000309324.4	37	c.150	CCDS12143.1	19																																																																																			C19orf70	-	NULL	ENSG00000174917		0.662	C19orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf70	HGNC	protein_coding	OTTHUMT00000451656.1		0.00	42	0	G	NM_205767		5679654	-1	tier1		no_errors	ENST00000309324	ensembl	human	known	74_37	frame_shift_del	22.45	38	11	DEL	0.000	-
C1QC	714	genome.wustl.edu	37	1	22973962	22973962	+	Missense_Mutation	SNP	G	G	A	rs147904988	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:22973962G>A	ENST00000374639.3	+	3	542	c.424G>A	c.(424-426)Gcg>Acg	p.A142T	C1QC_ENST00000374637.1_Missense_Mutation_p.A142T|C1QC_ENST00000374640.4_Missense_Mutation_p.A142T	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	142	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGATTCAACGCGGTCCTCAC	0.567																																					Ovarian(26;671 750 8290 29071 43278)												0								G	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	84.0	80.0	81.0		424,424	-9.5	0.0	1	dbSNP_134	81	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	C1QC	NM_001114101.1,NM_172369.3	58,58	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	benign,benign	142/246,142/246	22973962	6,13000	2203	4300	6503	SO:0001583	missense	0			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.424G>A	1.37:g.22973962G>A	ENSP00000363770:p.Ala142Thr		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.A142T	ENST00000374639.3	37	c.424	CCDS227.1	1	.	.	.	.	.	.	.	.	.	.	G	0.838	-0.743054	0.03088	4.54E-4	4.65E-4	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.74526	-0.85;-0.85;-0.85	4.74	-9.48	0.00591	Tumour necrosis factor-like (2);Complement C1q protein (4);	2.595320	0.02172	N	0.059739	T	0.26593	0.0650	N	0.00092	-2.175	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.52245	-0.8601	10	0.29301	T	0.29	.	1.1615	0.01807	0.2688:0.1053:0.3031:0.3229	.	142	P02747	C1QC_HUMAN	T	142	ENSP00000363771:A142T;ENSP00000363770:A142T;ENSP00000363768:A142T	ENSP00000363768:A142T	A	+	1	0	C1QC	22846549	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.018000	0.03626	-2.969000	0.00287	-1.683000	0.00735	GCG	C1QC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000159189		0.567	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1	-	0.00	48	0	G	NM_172369		22973962	+1	tier1	rs147904988	no_errors	ENST00000374637	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.002	A
C1QTNF9	338872	genome.wustl.edu	37	13	24895248	24895248	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:24895248G>A	ENST00000382071.2	+	4	429	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.R115Q			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	115	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AAGGGCCTCCGAGGAGAGACT	0.602																																																	0													29.0	16.0	21.0					13																	24895248		1957	3195	5152	SO:0001583	missense	0			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.344G>A	13.37:g.24895248G>A	ENSP00000371503:p.Arg115Gln		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.R115Q	ENST00000382071.2	37	c.344	CCDS9306.1	13	.	.	.	.	.	.	.	.	.	.	N	4.025	0.002136	0.07819	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.93307	-3.2;-3.2	3.96	-7.92	0.01160	.	0.629833	0.16057	N	0.231668	T	0.80793	0.4691	N	0.17474	0.49	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.66464	-0.5917	9	.	.	.	.	7.1434	0.25568	0.4021:0.3033:0.2946:0.0	.	115	P0C862	C1T9A_HUMAN	Q	115	ENSP00000371503:R115Q;ENSP00000333737:R115Q	.	R	+	2	0	C1QTNF9	23793248	0.007000	0.16637	0.000000	0.03702	0.028000	0.11728	0.866000	0.27954	-2.605000	0.00448	-1.423000	0.01107	CGA	C1QTNF9	-	pfam_Collagen	ENSG00000240654		0.602	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF9	HGNC	protein_coding	OTTHUMT00000044177.1	-	0.00	53	0	G	NM_178540		24895248	+1	tier1	-	no_errors	ENST00000332018	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.001	A
C1orf101	257044	genome.wustl.edu	37	1	244735907	244735908	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:244735907_244735908insT	ENST00000366534.4	+	11	1837_1838	c.1783_1784insT	c.(1783-1785)gttfs	p.V595fs	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Frame_Shift_Ins_p.V595fs|C1orf101_ENST00000366531.3_Frame_Shift_Ins_p.V444fs	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	595						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGTTGCTCATGTTTTTTACTTT	0.396																																																	0																																										SO:0001589	frameshift_variant	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1789dupT	1.37:g.244735913_244735913dupT	ENSP00000355492:p.Val595fs		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Frame_Shift_Ins	INS	NULL	p.Y446fs	ENST00000366534.4	37	c.1330_1331	CCDS44340.1	1																																																																																			C1orf101	-	NULL	ENSG00000179397		0.396	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1		0.00	82	0	-	NM_173807		244735908	+1	tier1		no_errors	ENST00000366531	ensembl	human	known	74_37	frame_shift_ins	29.89	61	26	INS	0.000:0.000	T
C1orf127	148345	genome.wustl.edu	37	1	11008750	11008750	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:11008750G>A	ENST00000377008.4	-	11	1387	c.941C>T	c.(940-942)aCg>aTg	p.T314M	C1orf127_ENST00000377004.4_Missense_Mutation_p.T481M			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	314	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CGAGGGGAGCGTGGCTGGAGG	0.662																																																	0													41.0	47.0	45.0					1																	11008750		2203	4300	6503	SO:0001583	missense	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.941C>T	1.37:g.11008750G>A	ENSP00000366207:p.Thr314Met		A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.T481M	ENST00000377008.4	37	c.1442		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.21|13.21	2.168344|2.168344	0.38315|0.38315	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.32515	.|1.45;1.45	4.67|4.67	-0.493|-0.493	0.12038|0.12038	.|.	.|0.891435	.|0.09430	.|N	.|0.803224	T|T	0.14313|0.14313	0.0346|0.0346	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.42961	.|0.795;0.795;0.795	.|B;B;B	.|0.27608	.|0.081;0.081;0.081	T|T	0.14364|0.14364	-1.0475|-1.0475	5|10	.|0.52906	.|T	.|0.07	0.1216|0.1216	6.8546|6.8546	0.24034|0.24034	0.5379:0.0:0.4621:0.0|0.5379:0.0:0.4621:0.0	.|.	.|332;306;314	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	C|M	316;433|481;314	.|ENSP00000366203:T481M;ENSP00000366207:T314M	.|ENSP00000366203:T481M	R|T	-|-	1|2	0|0	C1orf127|C1orf127	10931337|10931337	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.013000|0.013000	0.13310|0.13310	0.082000|0.082000	0.17018|0.17018	-0.339000|-0.339000	0.08088|0.08088	CGC|ACG	C1orf127	-	NULL	ENSG00000175262		0.662	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		-	0.00	98	0	G	NM_173507		11008750	-1	tier1	-	no_errors	ENST00000377004	ensembl	human	known	74_37	missense	34.29	69	36	SNP	0.000	A
C1orf61	10485	genome.wustl.edu	37	1	156374433	156374433	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156374433delT	ENST00000368243.1	-	7	540				C1orf61_ENST00000488498.2_5'UTR	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61							nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					AAAATACttcttttttttgag	0.448																																																	0										968,5,3293		122,0,724,0,5,1282	35.0	37.0	36.0			-1.2	0.0	1	dbSNP_120	37	342,5,7905		12,0,318,0,5,3791	no	intron	C1orf61	NM_006365.1		134,0,1042,0,10,5073	A1A1,A1A2,A1R,A2A2,A2R,RR		4.205,22.8083,10.5448			156374433	1310,10,11198	2203	4300	6503	SO:0001627	intron_variant	0				CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.424-40A>-	1.37:g.156374433delT			B1ALL5|B1ALL8	RNA	DEL	-	NULL	ENST00000368243.1	37	NULL	CCDS1142.1	1																																																																																			C1orf61	-	-	ENSG00000125462		0.448	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf61	HGNC	protein_coding	OTTHUMT00000075988.1		0.00	33	0	T	NM_006365		156374433	-1	tier1		no_errors	ENST00000488498	ensembl	human	known	74_37	rna	26.32	14	5	DEL	0.003	-
C1orf101	257044	genome.wustl.edu	37	1	244769091	244769091	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:244769091G>T	ENST00000366534.4	+	18	2452	c.2398G>T	c.(2398-2400)Gca>Tca	p.A800S	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.A800S|C1orf101_ENST00000366531.3_Missense_Mutation_p.A649S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	800						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TAATACTATGGCACAGGTATG	0.333																																																	0													102.0	103.0	103.0					1																	244769091		2203	4300	6503	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2398G>T	1.37:g.244769091G>T	ENSP00000355492:p.Ala800Ser		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.A649S	ENST00000366534.4	37	c.1945	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344228	0.24339	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.62	-5.89	0.02282	.	0.920090	0.09215	N	0.832726	T	0.09598	0.0236	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.32467	0.187;0.131;0.372;0.056	B;B;B;B	0.27500	0.08;0.023;0.046;0.022	T	0.37244	-0.9714	10	0.09843	T	0.71	.	2.314	0.04194	0.2629:0.2522:0.3618:0.1231	.	720;800;800;649	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	S	800;800;800;720;649	ENSP00000355492:A800S;ENSP00000355491:A800S;ENSP00000395796:A720S;ENSP00000355489:A649S	ENSP00000355489:A649S	A	+	1	0	C1orf101	242835714	0.001000	0.12720	0.012000	0.15200	0.116000	0.19942	-0.327000	0.07955	-0.920000	0.03799	-0.482000	0.04802	GCA	C1orf101	-	NULL	ENSG00000179397		0.333	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	-	0.00	76	0	G	NM_173807		244769091	+1	tier1	-	no_errors	ENST00000366531	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.006	T
C20orf203	284805	genome.wustl.edu	37	20	31238590	31238590	+	lincRNA	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:31238590delG	ENST00000608990.1	-	0	801							Q8NBC4	CT203_HUMAN	chromosome 20 open reading frame 203							cytoplasm (GO:0005737)											TGGCTGGGCTGGGGGTGGACT	0.652																																																	0																																												0			AK091025		20q11.21	2013-12-06			ENSG00000198547	ENSG00000198547			26592	protein-coding gene	gene with protein product						20376170	Standard	NM_182584		Approved	FLJ33706	uc021wbx.1	Q8NBC4	OTTHUMG00000032224		20.37:g.31238590delG			B8JHY2	RNA	DEL	-	NULL	ENST00000608990.1	37	NULL		20																																																																																			C20orf203	-	-	ENSG00000198547		0.652	C20orf203-001	KNOWN	basic	lincRNA	C20orf203	HGNC	lincRNA	OTTHUMT00000078641.3		0.00	70	0	G	NM_182584		31238590	-1	tier1		no_errors	ENST00000360785	ensembl	human	known	74_37	rna	18.87	43	10	DEL	0.018	-
C22orf15	150248	genome.wustl.edu	37	22	24106534	24106534	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:24106534G>A	ENST00000402217.3	+	3	453	c.200G>A	c.(199-201)gGc>gAc	p.G67D	C22orf15_ENST00000382821.3_Missense_Mutation_p.G67D|C22orf15_ENST00000305199.5_Missense_Mutation_p.G67D	NM_182520.2	NP_872326.2	Q8WYQ4	CV015_HUMAN	chromosome 22 open reading frame 15	67										breast(1)|pancreas(1)	2		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				CAGACCATGGGCAACTCCCTA	0.572																																																	0													66.0	74.0	72.0					22																	24106534		692	1591	2283	SO:0001583	missense	0			AB050773	CCDS13814.2	22q11.23	2012-11-13			ENSG00000169314	ENSG00000169314			15558	protein-coding gene	gene with protein product							Standard	NM_182520		Approved	FLJ36561, N27C7-3	uc011aja.2	Q8WYQ4	OTTHUMG00000150740	ENST00000402217.3:c.200G>A	22.37:g.24106534G>A	ENSP00000384965:p.Gly67Asp		Q6ICJ7	Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.G67D	ENST00000402217.3	37	c.200	CCDS13814.2	22	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165153	0.21538	.	.	ENSG00000169314	ENST00000336186;ENST00000402217;ENST00000305199;ENST00000382821	T	0.40476	1.03	3.53	-3.6	0.04570	.	0.932856	0.08765	N	0.897163	T	0.45538	0.1347	L	0.40543	1.245	0.09310	N	1	B;D;B	0.76494	0.297;0.999;0.301	B;D;B	0.66979	0.081;0.948;0.081	T	0.41698	-0.9494	10	0.72032	D	0.01	-4.4958	3.9702	0.09449	0.1024:0.4651:0.2841:0.1484	.	67;67;67	Q8WYQ4;C9JMV7;Q8WYQ4-2	CV015_HUMAN;.;.	D	67	ENSP00000384965:G67D	ENSP00000305096:G67D	G	+	2	0	C22orf15	22436534	0.775000	0.28604	0.000000	0.03702	0.002000	0.02628	0.186000	0.16978	-0.711000	0.04995	-1.105000	0.02106	GGC	C22orf15	-	NULL	ENSG00000169314		0.572	C22orf15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf15	HGNC	protein_coding	OTTHUMT00000319887.2		0.00	22	0	G	NM_182520		24106534	+1			no_errors	ENST00000402217	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.003	A
C22orf24	25775	genome.wustl.edu	37	22	32334105	32334105	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:32334105delA	ENST00000248984.3	-	2	118				C22orf24_ENST00000543051.1_Frame_Shift_Del_p.F50fs|C22orf24_ENST00000486651.1_Intron	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24							integral component of membrane (GO:0016021)				central_nervous_system(1)|urinary_tract(1)	2						ttcagagctgaaaaaaaaagg	0.453																																																	0										24,3632		1,22,1805						-2.0	0.0			28	37,7849		0,37,3906	no	intron	C22orf24	NM_015372.1		1,59,5711	A1A1,A1R,RR		0.4692,0.6565,0.5285				61,11481				SO:0001627	intron_variant	0				CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.49-4T>-	22.37:g.32334105delA			B2RCT4|Q5K3R1	Frame_Shift_Del	DEL	NULL	p.F50fs	ENST00000248984.3	37	c.149	CCDS46693.1	22																																																																																			C22orf24	-	NULL	ENSG00000128254		0.453	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C22orf24	HGNC	protein_coding	OTTHUMT00000075722.2		0.00	45	0	A	NM_015372		32334105	-1	tier1		no_errors	ENST00000543051	ensembl	human	known	74_37	frame_shift_del	16.98	44	9	DEL	0.000	-
C2orf16	84226	genome.wustl.edu	37	2	27804744	27804744	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:27804744C>T	ENST00000408964.2	+	1	5356	c.5305C>T	c.(5305-5307)Ccc>Tcc	p.P1769S	ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1769	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCATTGCAGTCCCTCTGAGAG	0.532																																																	0													202.0	205.0	204.0					2																	27804744		1925	4134	6059	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5305C>T	2.37:g.27804744C>T	ENSP00000386190:p.Pro1769Ser		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.P1769S	ENST00000408964.2	37	c.5305	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	c	12.15	1.852135	0.32699	.	.	ENSG00000221843	ENST00000408964	T	0.06371	3.31	4.01	0.0775	0.14408	.	.	.	.	.	T	0.04634	0.0126	L	0.31926	0.97	0.09310	N	1	B	0.29432	0.244	B	0.24848	0.056	T	0.40384	-0.9566	9	0.39692	T	0.17	.	5.2353	0.15443	0.0:0.5721:0.1516:0.2763	.	1769	Q68DN1	CB016_HUMAN	S	1769	ENSP00000386190:P1769S	ENSP00000386190:P1769S	P	+	1	0	C2orf16	27658248	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.209000	0.01228	0.000000	0.14550	0.462000	0.41574	CCC	C2orf16	-	NULL	ENSG00000221843		0.532	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	-	0.00	110	0	C	NM_032266		27804744	+1	tier1	-	no_errors	ENST00000408964	ensembl	human	known	74_37	missense	20.95	83	22	SNP	0.000	T
C3	718	genome.wustl.edu	37	19	6718124	6718124	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6718124G>A	ENST00000245907.6	-	4	577	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	162					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GACCATGACCGTCCGGCCCAC	0.612																																																	0													102.0	98.0	99.0					19																	6718124		2203	4300	6503	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.485C>T	19.37:g.6718124G>A	ENSP00000245907:p.Thr162Met		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.T162M	ENST00000245907.6	37	c.485	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290769	0.40494	.	.	ENSG00000125730	ENST00000245907	T	0.74002	-0.8	4.56	3.5	0.40072	Alpha-2-macroglobulin, N-terminal (1);	0.508491	0.21667	N	0.070923	D	0.83257	0.5215	M	0.74389	2.26	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.74077	-0.3781	10	0.27785	T	0.31	.	12.7512	0.57310	0.0:0.167:0.833:0.0	.	162	P01024	CO3_HUMAN	M	162	ENSP00000245907:T162M	ENSP00000245907:T162M	T	-	2	0	C3	6669124	0.018000	0.18449	0.587000	0.28692	0.477000	0.33069	0.975000	0.29449	1.054000	0.40438	0.298000	0.19748	ACG	C3	-	pfam_A2M_N	ENSG00000125730		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2		0.00	39	0	G	NM_000064		6718124	-1			no_errors	ENST00000245907	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.222	A
C3orf56	285311	genome.wustl.edu	37	3	126915945	126915945	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:126915945C>A	ENST00000398112.1	+	2	657	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_001007534.2	NP_001007535.1	Q8N813	CC056_HUMAN	chromosome 3 open reading frame 56	139										breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCACCTACTCCTTGGCTTCTC	0.642																																																	0													99.0	110.0	106.0					3																	126915945		1895	4097	5992	SO:0001819	synonymous_variant	0			AK097460	CCDS63757.1	3q21.3	2012-08-08			ENSG00000214324	ENSG00000214324			32481	protein-coding gene	gene with protein product						14702039	Standard	NM_001007534		Approved	FLJ40141	uc003eji.1	Q8N813	OTTHUMG00000159593	ENST00000398112.1:c.417C>A	3.37:g.126915945C>A			B2RNW5	Silent	SNP	NULL	p.S139	ENST00000398112.1	37	c.417		3																																																																																			C3orf56	-	NULL	ENSG00000214324		0.642	C3orf56-001	KNOWN	basic|appris_principal	protein_coding	C3orf56	HGNC	protein_coding	OTTHUMT00000356354.1		0.00	115	0	C			126915945	+1			no_errors	ENST00000398112	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.000	A
PQLC2L	152078	genome.wustl.edu	37	3	157261261	157261261	+	5'UTR	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:157261261T>G	ENST00000449199.2	+	0	76				C3orf55_ENST00000468043.1_5'UTR|C3orf55_ENST00000461040.1_5'UTR|C3orf55_ENST00000426338.2_5'UTR|C3orf55_ENST00000498159.1_3'UTR|C3orf55_ENST00000459838.1_5'UTR|C3orf55_ENST00000312275.5_5'UTR	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN												breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			TCTCATTGCCTGAGGTTGGGC	0.547											OREG0015896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001623	5_prime_UTR_variant	0																														ENST00000449199.2:c.-66T>G	3.37:g.157261261T>G		1784	C9JP04|C9JXB5|Q8N6Q6	RNA	SNP	-	NULL	ENST00000449199.2	37	NULL	CCDS46943.1	3																																																																																			C3orf55	-	-	ENSG00000174899		0.547	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf55	HGNC	protein_coding	OTTHUMT00000352018.1	-	0.00	44	0	T			157261261	+1	tier1	-	no_errors	ENST00000498159	ensembl	human	putative	74_37	rna	11.76	30	4	SNP	0.000	G
C3orf70	285382	genome.wustl.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16.0	17.0	17.0					3																	184870595		2196	4292	6488	SO:0001583	missense	0				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.S6L	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL	ENSG00000187068		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	-	0.00	27	0	G	NM_001025266		184870595	-1	tier1	-	no_errors	ENST00000335012	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.804	A
C4orf19	55286	genome.wustl.edu	37	4	37592205	37592205	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:37592205A>G	ENST00000284437.6	+	3	706	c.528A>G	c.(526-528)gtA>gtG	p.V176V	C4orf19_ENST00000381980.4_Silent_p.V176V|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	176										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CCTTGGAAGTACAAGACCATG	0.493																																																	0													72.0	75.0	74.0					4																	37592205		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.528A>G	4.37:g.37592205A>G			Q9NV03	Silent	SNP	NULL	p.V176	ENST00000284437.6	37	c.528	CCDS3442.1	4																																																																																			C4orf19	-	NULL	ENSG00000154274		0.493	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf19	HGNC	protein_coding	OTTHUMT00000250432.1	-	0.00	23	0	A	NM_018302		37592205	+1	tier1	-	no_errors	ENST00000284437	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.000	G
C4orf22	255119	genome.wustl.edu	37	4	81791254	81791254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:81791254delA	ENST00000358105.3	+	4	490	c.441delA	c.(439-441)ggafs	p.G147fs	C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACTTTACTGGAAAAAAAAGAC	0.373																																																	0																																										SO:0001589	frameshift_variant	0			BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.441delA	4.37:g.81791254delA	ENSP00000350818:p.Gly147fs		E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Del	DEL	NULL	p.R167fs	ENST00000358105.3	37	c.492	CCDS3587.1	4																																																																																			C4orf22	-	NULL	ENSG00000197826		0.373	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf22	HGNC	protein_coding	OTTHUMT00000252629.2		0.00	38	0	A	NM_152770		81791254	+1	tier1		no_errors	ENST00000508675	ensembl	human	known	74_37	frame_shift_del	16.67	30	6	DEL	0.769	-
ZGRF1	55345	genome.wustl.edu	37	4	113540483	113540483	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:113540483C>T	ENST00000505019.1	-	6	840	c.715G>A	c.(715-717)Gca>Aca	p.A239T	C4orf21_ENST00000309071.5_Missense_Mutation_p.A239T|C4orf21_ENST00000445203.2_Missense_Mutation_p.A208T	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		239						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAGTGAGATGCCAAACTATCT	0.378																																																	0													75.0	76.0	75.0					4																	113540483		2203	4300	6503	SO:0001583	missense	0																														ENST00000505019.1:c.715G>A	4.37:g.113540483C>T	ENSP00000424737:p.Ala239Thr		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.A239T	ENST00000505019.1	37	c.715		4	.	.	.	.	.	.	.	.	.	.	C	1.684	-0.505726	0.04261	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	T;T;T	0.80738	-1.41;2.07;1.67	5.18	-2.77	0.05877	.	1.266500	0.05500	N	0.558247	T	0.54208	0.1844	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.001;0.002	T	0.49428	-0.8941	10	0.05721	T	0.95	-0.2202	3.9686	0.09443	0.3161:0.1786:0.0:0.5053	.	239;239	Q86YA3;G5EA02	CD021_HUMAN;.	T	239;239;208	ENSP00000424737:A239T;ENSP00000309095:A239T;ENSP00000390505:A208T	ENSP00000309095:A239T	A	-	1	0	C4orf21	113759932	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-0.435000	0.07264	-0.274000	0.10170	GCA	C4orf21	-	NULL	ENSG00000138658		0.378	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	-	0.00	44	0	C			113540483	-1	tier1	-	no_errors	ENST00000505019	ensembl	human	known	74_37	missense	33.33	30	15	SNP	0.000	T
C5orf42	65250	genome.wustl.edu	37	5	37224365	37224365	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:37224365G>T	ENST00000508244.1	-	13	2664	c.2571C>A	c.(2569-2571)atC>atA	p.I857I	C5orf42_ENST00000425232.2_Silent_p.I857I|C5orf42_ENST00000274258.7_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	857						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTTCTCTTCGATTTCTTGTA	0.323																																																	0													255.0	186.0	207.0					5																	37224365		692	1588	2280	SO:0001819	synonymous_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2571C>A	5.37:g.37224365G>T			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	superfamily_Quino_amine_DH_bsu	p.I857	ENST00000508244.1	37	c.2571	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.323	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0.00	61	0	G	NM_023073		37224365	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	silent	18.33	49	11	SNP	0.132	T
C5orf30	90355	genome.wustl.edu	37	5	102611913	102611913	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:102611913C>T	ENST00000319933.2	+	3	601	c.293C>T	c.(292-294)gCa>gTa	p.A98V	C5orf30_ENST00000515669.1_Missense_Mutation_p.A98V|C5orf30_ENST00000510890.1_Missense_Mutation_p.A98V	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	98					cilium morphogenesis (GO:0060271)|protein transport (GO:0015031)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		CAGCTAGATGCAGGACTTGCC	0.522																																																	0													68.0	63.0	64.0					5																	102611913		2203	4300	6503	SO:0001583	missense	0				CCDS4095.1	5q21.1	2012-02-23			ENSG00000181751	ENSG00000181751			25052	protein-coding gene	gene with protein product						22085962	Standard	NM_033211		Approved	FLJ25291	uc003kog.1	Q96GV9	OTTHUMG00000128738	ENST00000319933.2:c.293C>T	5.37:g.102611913C>T	ENSP00000326110:p.Ala98Val			Missense_Mutation	SNP	NULL	p.A98V	ENST00000319933.2	37	c.293	CCDS4095.1	5	.	.	.	.	.	.	.	.	.	.	C	8.664	0.901190	0.17760	.	.	ENSG00000181751	ENST00000319933;ENST00000515669;ENST00000510890	.	.	.	6.06	4.25	0.50352	.	0.651566	0.15695	N	0.249211	T	0.27384	0.0672	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16453	-1.0402	9	0.21014	T	0.42	-1.9145	11.2895	0.49241	0.1276:0.8071:0.0:0.0653	.	98	Q96GV9	CE030_HUMAN	V	98	.	ENSP00000326110:A98V	A	+	2	0	C5orf30	102639812	0.977000	0.34250	0.447000	0.26932	0.972000	0.66771	3.503000	0.53340	0.853000	0.35312	0.655000	0.94253	GCA	C5orf30	-	NULL	ENSG00000181751		0.522	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf30	HGNC	protein_coding	OTTHUMT00000250649.1	-	0.00	21	0	C	NM_033211		102611913	+1	tier1	-	no_errors	ENST00000319933	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.007	T
DCANP1	140947	genome.wustl.edu	37	5	134782253	134782253	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:134782253A>T	ENST00000503143.2	-	1	785	c.546T>A	c.(544-546)gaT>gaA	p.D182E	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		182	Ser-rich.					nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGCCATGGATCTGATGATT	0.483																																																	0													99.0	100.0	100.0					5																	134782253		2203	4300	6503	SO:0001583	missense	0																														ENST00000503143.2:c.546T>A	5.37:g.134782253A>T	ENSP00000421871:p.Asp182Glu			Missense_Mutation	SNP	NULL	p.D182E	ENST00000503143.2	37	c.546	CCDS4186.1	5	.	.	.	.	.	.	.	.	.	.	A	9.981	1.228254	0.22542	.	.	ENSG00000251380	ENST00000503143	T	0.38887	1.11	3.86	-3.5	0.04710	.	.	.	.	.	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	P	0.37101	0.582	B	0.31614	0.133	T	0.13335	-1.0513	9	0.87932	D	0	.	0.9188	0.01310	0.3707:0.1666:0.301:0.1618	.	182	Q8TF63	DCNP1_HUMAN	E	182	ENSP00000421871:D182E	ENSP00000421871:D182E	D	-	3	2	C5orf20	134810152	0.001000	0.12720	0.000000	0.03702	0.087000	0.18053	0.040000	0.13905	-0.631000	0.05560	0.402000	0.26972	GAT	C5orf20	-	NULL	ENSG00000251380		0.483	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf20	HGNC	protein_coding	OTTHUMT00000372531.1	-	0.00	48	0	A			134782253	-1	tier1	-	no_errors	ENST00000503143	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.000	T
TEX43	389320	genome.wustl.edu	37	5	125971900	125971900	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:125971900G>T	ENST00000357147.3	+	3	385	c.372G>T	c.(370-372)gtG>gtT	p.V124V		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		124										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						AAAGCACTGTGATTTCCCATG	0.388																																																	0													87.0	89.0	88.0					5																	125971900		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000357147.3:c.372G>T	5.37:g.125971900G>T				Silent	SNP	NULL	p.V124	ENST00000357147.3	37	c.372	CCDS4139.1	5																																																																																			C5orf48	-	NULL	ENSG00000196900		0.388	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf48	HGNC	protein_coding	OTTHUMT00000250923.1		0.00	28	0	G			125971900	+1			no_errors	ENST00000357147	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.996	T
SQSTM1	8878	genome.wustl.edu	37	5	179264366	179264366	+	3'UTR	SNP	C	C	T	rs559679314	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:179264366C>T	ENST00000389805.4	+	0	2274				C5orf45_ENST00000520698.1_Intron|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000523084.1_3'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000292586.6_3'UTR|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000376931.2_3'UTR	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1						apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGTGTATCTCGATTAATAAC	0.428													C|||	2	0.000399361	0.0	0.0	5008	,	,		19070	0.002		0.0	False		,,,				2504	0.0																0													136.0	138.0	137.0					5																	179264366		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.*773C>T	5.37:g.179264366C>T			A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	RNA	SNP	-	NULL	ENST00000389805.4	37	NULL	CCDS34317.1	5																																																																																			C5orf45	-	-	ENSG00000161010		0.428	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf45	HGNC	protein_coding	OTTHUMT00000319344.1	-	0.00	44	0	C			179264366	-1	tier1	-	no_errors	ENST00000523267	ensembl	human	putative	74_37	rna	29.63	38	16	SNP	0.000	T
C6orf132	647024	genome.wustl.edu	37	6	42074305	42074306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:42074305_42074306insG	ENST00000341865.4	-	4	1343_1344	c.1344_1345insC	c.(1342-1347)cccagcfs	p.S449fs		NM_001164446.1	NP_001157918.1	Q5T0Z8	CF132_HUMAN	chromosome 6 open reading frame 132	449										breast(1)	1						TTCTCTGGGCTGGGGGGGTTGG	0.584																																																	0																																										SO:0001589	frameshift_variant	0				CCDS47428.1	6p21.1	2012-02-06			ENSG00000188112	ENSG00000188112			21288	protein-coding gene	gene with protein product							Standard	NM_001164446		Approved	bA7K24.2	uc003orw.2	Q5T0Z8	OTTHUMG00000014695	ENST00000341865.4:c.1345dupC	6.37:g.42074312_42074312dupG	ENSP00000341368:p.Ser449fs		A6NI05	Frame_Shift_Ins	INS	NULL	p.S448fs	ENST00000341865.4	37	c.1345_1344	CCDS47428.1	6																																																																																			C6orf132	-	NULL	ENSG00000188112		0.584	C6orf132-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C6orf132	HGNC	protein_coding	OTTHUMT00000040548.2		0.00	49	0	-	NM_001164446		42074306	-1	tier1		no_errors	ENST00000341865	ensembl	human	putative	74_37	frame_shift_ins	15.15	28	5	INS	0.842:0.850	G
CFAP69	79846	genome.wustl.edu	37	7	89884764	89884764	+	Missense_Mutation	SNP	C	C	A	rs375665829		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:89884764C>A	ENST00000389297.4	+	2	399	c.148C>A	c.(148-150)Cgt>Agt	p.R50S	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Missense_Mutation_p.R50S|C7orf63_ENST00000497910.1_Missense_Mutation_p.R50S	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		50								p.R50C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GGACCTTAATCGTGTCATCAA	0.333																																																	1	Substitution - Missense(1)	large_intestine(1)											226.0	218.0	221.0					7																	89884764		1819	4079	5898	SO:0001583	missense	0																														ENST00000389297.4:c.148C>A	7.37:g.89884764C>A	ENSP00000373948:p.Arg50Ser		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R50S	ENST00000389297.4	37	c.148	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	C	4.422	0.077984	0.08485	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910	T;T;T	0.42513	0.97;0.97;0.97	4.82	-0.361	0.12564	.	0.566616	0.17378	N	0.176406	T	0.30823	0.0777	L	0.59436	1.845	0.09310	N	0.999999	B;B;B	0.12630	0.002;0.006;0.001	B;B;B	0.17098	0.007;0.017;0.002	T	0.30765	-0.9967	10	0.56958	D	0.05	-0.3287	0.9448	0.01363	0.3114:0.3538:0.1518:0.183	.	50;50;50	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	S	50	ENSP00000373948:R50S;ENSP00000321753:R50S;ENSP00000419549:R50S	ENSP00000321753:R50S	R	+	1	0	C7orf63	89722700	0.838000	0.29461	0.879000	0.34478	0.099000	0.18886	0.266000	0.18534	0.236000	0.21180	-0.218000	0.12543	CGT	C7orf63	-	NULL	ENSG00000105792		0.333	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	-	0.00	47	0	C			89884764	+1	tier1	-	no_errors	ENST00000389297	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.209	A
C9orf135	138255	genome.wustl.edu	37	9	72435881	72435881	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:72435881G>A	ENST00000377197.3	+	1	173	c.86G>A	c.(85-87)cGc>cAc	p.R29H	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.R29H|C9orf135-AS1_ENST00000439418.1_lincRNA	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	29						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTGGTGGAGCGCAAGGGCTCC	0.597																																																	0													69.0	60.0	63.0					9																	72435881		2203	4300	6503	SO:0001583	missense	0				CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.86G>A	9.37:g.72435881G>A	ENSP00000366402:p.Arg29His		A7E2U4|B2RN61	Missense_Mutation	SNP	NULL	p.R29H	ENST00000377197.3	37	c.86	CCDS35041.1	9	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486052	0.84854	.	.	ENSG00000204711	ENST00000377197;ENST00000527647	.	.	.	4.8	4.8	0.61643	.	0.000000	0.47093	D	0.000244	T	0.76227	0.3958	M	0.65498	2.005	0.40500	D	0.980637	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79342	-0.1843	9	0.87932	D	0	-5.2651	13.2471	0.60029	0.0:0.0:1.0:0.0	.	29;29	A7E2U4;Q5VTT2	.;CI135_HUMAN	H	29	.	ENSP00000366402:R29H	R	+	2	0	C9orf135	71625701	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.536000	0.60636	2.488000	0.83962	0.655000	0.94253	CGC	C9orf135	-	NULL	ENSG00000204711		0.597	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C9orf135	HGNC	protein_coding	OTTHUMT00000052591.1	-	0.00	29	0	G	NM_001010940		72435881	+1	tier1	-	no_errors	ENST00000377197	ensembl	human	known	74_37	missense	25.00	33	11	SNP	1.000	A
C9orf142	286257	genome.wustl.edu	37	9	139887244	139887244	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:139887244G>A	ENST00000371620.3	+	2	206				C9orf142_ENST00000493968.1_3'UTR|CLIC3_ENST00000480181.1_5'Flank	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142							extracellular vesicular exosome (GO:0070062)						all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCCCAGAAGGCTCTGACACC	0.662																																																	0																																										SO:0001627	intron_variant	0			BC002613	CCDS7020.1	9q34.3	2008-02-05			ENSG00000148362	ENSG00000148362			27849	protein-coding gene	gene with protein product							Standard	NM_183241		Approved		uc004cki.3	Q9BUH6	OTTHUMG00000020971	ENST00000371620.3:c.180+92G>A	9.37:g.139887244G>A			Q8IY19	RNA	SNP	-	NULL	ENST00000371620.3	37	NULL	CCDS7020.1	9																																																																																			C9orf142	-	-	ENSG00000148362		0.662	C9orf142-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf142	HGNC	protein_coding	OTTHUMT00000055255.1	-	0.00	62	0	G	NM_183241		139887244	+1	tier1	-	no_errors	ENST00000468484	ensembl	human	known	74_37	rna	24.14	44	14	SNP	0.001	A
C9orf91	203197	genome.wustl.edu	37	9	117389249	117389249	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:117389249T>G	ENST00000288502.4	+	4	724	c.287T>G	c.(286-288)aTc>aGc	p.I96S	C9orf91_ENST00000374049.4_Missense_Mutation_p.I97S|C9orf91_ENST00000471206.1_3'UTR			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	96						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						AGATATATCATCTACAACTCG	0.567																																																	0													89.0	85.0	86.0					9																	117389249		2203	4300	6503	SO:0001583	missense	0			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.287T>G	9.37:g.117389249T>G	ENSP00000288502:p.Ile96Ser		A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	NULL	p.I97S	ENST00000288502.4	37	c.290	CCDS6808.1	9	.	.	.	.	.	.	.	.	.	.	T	16.32	3.091198	0.55968	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	5.8	5.8	0.92144	.	0.182612	0.47852	D	0.000210	T	0.55705	0.1937	L	0.44542	1.39	0.36688	D	0.87942	D;P	0.52996	0.957;0.867	P;B	0.51701	0.677;0.361	T	0.66135	-0.5999	9	0.72032	D	0.01	-11.9126	12.5467	0.56203	0.0:0.0:0.0:1.0	.	75;96	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	S	97;96	.	ENSP00000288502:I96S	I	+	2	0	C9orf91	116429070	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.208000	0.58486	2.209000	0.71365	0.533000	0.62120	ATC	C9orf91	-	NULL	ENSG00000157693		0.567	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C9orf91	HGNC	protein_coding	OTTHUMT00000053780.1	-	0.00	46	0	T	NM_153045		117389249	+1	tier1	-	no_errors	ENST00000374049	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	G
NELFB	25920	genome.wustl.edu	37	9	140147122	140147122	+	5'Flank	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:140147122G>A	ENST00000343053.4	+	0	0				C9orf173_ENST00000412566.1_Silent_p.S167S|C9orf173_ENST00000388931.3_Silent_p.S167S	NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B						gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AGTGGCCCTCGCCAGCCCACT	0.701																																																	0													4.0	5.0	5.0					9																	140147122		1858	3970	5828	SO:0001631	upstream_gene_variant	0			AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778		9.37:g.140147122G>A	Exception_encountered		A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Silent	SNP	NULL	p.S167	ENST00000343053.4	37	c.501	CCDS7040.1	9																																																																																			C9orf173	-	NULL	ENSG00000197768		0.701	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf173	HGNC	protein_coding	OTTHUMT00000254710.1		0.00	13	0	G	NM_015456		140147122	+1			no_errors	ENST00000388931	ensembl	human	known	74_37	silent	38.46	8	5	SNP	0.071	A
CA1	759	genome.wustl.edu	37	8	86250552	86250552	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:86250552G>A	ENST00000523953.1	-	4	1210	c.164C>T	c.(163-165)gCc>gTc	p.A55V	CA1_ENST00000256119.5_Missense_Mutation_p.A55V|CA1_ENST00000431316.1_Missense_Mutation_p.A55V|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Missense_Mutation_p.A55V|CA1_ENST00000522389.1_Intron|CA1_ENST00000542576.1_Missense_Mutation_p.A55V|CA1_ENST00000523022.1_Missense_Mutation_p.A55V			P00915	CAH1_HUMAN	carbonic anhydrase I	55					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TTTGGCTGTGGCTGGGTTGTA	0.418																																																	0													219.0	225.0	223.0					8																	86250552		2203	4300	6503	SO:0001583	missense	0			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.164C>T	8.37:g.86250552G>A	ENSP00000430656:p.Ala55Val			Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.A55V	ENST00000523953.1	37	c.164	CCDS6237.1	8	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629413	0.28978	.	.	ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000517618;ENST00000517590;ENST00000521846;ENST00000522579;ENST00000522814;ENST00000522662;ENST00000523858	T;T;T;T;T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.53	2.68	0.31781	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.520199	0.21829	N	0.068502	T	0.59985	0.2234	M	0.67517	2.055	0.09310	N	0.999999	D	0.54047	0.964	B	0.39562	0.303	T	0.56098	-0.8035	10	0.72032	D	0.01	-4.6528	9.2094	0.37309	0.0:0.2654:0.4605:0.2741	.	55	P00915	CAH1_HUMAN	V	55	ENSP00000430656:A55V;ENSP00000256119:A55V;ENSP00000392338:A55V;ENSP00000443517:A55V;ENSP00000401551:A55V;ENSP00000429798:A55V;ENSP00000430861:A55V;ENSP00000429843:A55V;ENSP00000430471:A55V;ENSP00000427852:A55V;ENSP00000430737:A55V;ENSP00000430372:A55V;ENSP00000430975:A55V	ENSP00000256119:A55V	A	-	2	0	CA1	86437804	0.001000	0.12720	0.007000	0.13788	0.441000	0.31987	0.442000	0.21628	0.258000	0.21686	0.591000	0.81541	GCC	CA1	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000133742		0.418	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA1	HGNC	protein_coding	OTTHUMT00000381067.1		0.00	82	0	G	NM_001738		86250552	-1			no_errors	ENST00000256119	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.061	A
CA14	23632	genome.wustl.edu	37	1	150236993	150236995	+	Splice_Site	DEL	GAA	GAA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:150236993_150236995delGAA	ENST00000369111.4	+	11	1918_1920	c.948_950delGAA	c.(946-951)cggaag>cgg	p.K318del	APH1A_ENST00000461320.1_5'Flank|snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	318					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.R316R(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	CCCTTTCCAGGAAGAAGAGGCTG	0.458																																																	1	Substitution - coding silent(1)	central_nervous_system(1)																																								SO:0001630	splice_region_variant	0			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.948-1GAA>-	1.37:g.150236996_150236998delGAA			Q5TB24|Q8NCF4	In_Frame_Del	DEL	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.K318in_frame_del	ENST00000369111.4	37	c.948_950	CCDS947.1	1																																																																																			CA14	-	NULL	ENSG00000118298		0.458	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2		0.00	54	0	GAA	NM_012113	In_Frame_Del	150236995	+1	tier1		no_errors	ENST00000369111	ensembl	human	known	74_37	in_frame_del	20.51	31	8	DEL	1.000:1.000:1.000	-
CAB39L	81617	genome.wustl.edu	37	13	49957037	49957037	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:49957037delT	ENST00000355854.4	-	2	507	c.10delA	c.(10-12)atgfs	p.M4fs	CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000410043.1_Frame_Shift_Del_p.M4fs|CAB39L_ENST00000347776.5_Frame_Shift_Del_p.M4fs|CAB39L_ENST00000409308.1_Frame_Shift_Del_p.M4fs	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	4					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AACAAAGGCATTTTTTTCATG	0.284																																																	0													138.0	121.0	126.0					13																	49957037		1796	4058	5854	SO:0001589	frameshift_variant	0			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.10delA	13.37:g.49957037delT	ENSP00000348113:p.Met4fs		Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Frame_Shift_Del	DEL	pfam_Mo25,superfamily_ARM-type_fold	p.M4fs	ENST00000355854.4	37	c.10	CCDS9416.2	13																																																																																			CAB39L	-	NULL	ENSG00000102547		0.284	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39L	HGNC	protein_coding	OTTHUMT00000044908.3		0.00	123	0	T	NM_030925		49957037	-1	tier1		no_errors	ENST00000347776	ensembl	human	known	74_37	frame_shift_del	25.00	87	29	DEL	1.000	-
CABIN1	23523	genome.wustl.edu	37	22	24447362	24447362	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:24447362delA	ENST00000398319.2	+	8	1117	c.732delA	c.(730-732)cgafs	p.R244fs	CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.R244fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	244					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGGGGCTGCGAAAAAAGAGGC	0.522																																																	0													114.0	101.0	105.0					22																	24447362		2203	4300	6503	SO:0001589	frameshift_variant	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.732delA	22.37:g.24447362delA	ENSP00000381364:p.Arg244fs		G5E9F3|Q6PHY0|Q9Y460	Frame_Shift_Del	DEL	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K246fs	ENST00000398319.2	37	c.732	CCDS13823.1	22																																																																																			CABIN1	-	NULL	ENSG00000099991		0.522	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2		0.00	76	0	A	NM_012295		24447362	+1	tier1		no_errors	ENST00000263119	ensembl	human	known	74_37	frame_shift_del	16.67	60	12	DEL	0.949	-
CACNA1E	777	genome.wustl.edu	37	1	181765945	181765945	+	Missense_Mutation	SNP	G	G	A	rs376695821	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:181765945G>A	ENST00000367573.2	+	47	6350	c.6350G>A	c.(6349-6351)cGt>cAt	p.R2117H	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2098H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2068H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1681H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R2055H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2074H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2006H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2117					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCAGAGCGCCGTCAATCCAGG	0.597													G|||	4	0.000798722	0.0	0.0	5008	,	,		18391	0.0		0.0	False		,,,				2504	0.0041																0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4050		0,0,2025	24.0	27.0	26.0		6221,6350,6164	-7.0	0.0	1		26	2,8376		0,2,4187	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,2,6212	AA,AG,GG		0.0239,0.0,0.0161	benign,benign,benign	2074/2271,2117/2314,2055/2252	181765945	2,12426	2025	4189	6214	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6350G>A	1.37:g.181765945G>A	ENSP00000356545:p.Arg2117His		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R2117H	ENST00000367573.2	37	c.6350	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401155	0.42613	0.0	2.39E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96587	-3.99;-3.99;-3.96;-3.99;-4.06;-3.96;-3.96	5.91	-7.0	0.01599	.	1.376480	0.03999	N	0.296102	D	0.92570	0.7640	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.001	T	0.79776	-0.1661	10	0.48119	T	0.1	.	17.3005	0.87182	0.6998:0.0:0.3002:0.0	.	2055;2074	Q15878-2;Q15878-3	.;.	H	2074;2055;2068;2006;1681;2098;2117	ENSP00000356542:R2074H;ENSP00000434814:R2055H;ENSP00000350183:R2068H;ENSP00000351101:R2006H;ENSP00000356539:R1681H;ENSP00000353222:R2098H;ENSP00000356545:R2117H	ENSP00000350183:R2068H	R	+	2	0	CACNA1E	180032568	0.005000	0.15991	0.000000	0.03702	0.938000	0.57974	0.394000	0.20834	-1.312000	0.02306	-0.302000	0.09304	CGT	CACNA1E	-	NULL	ENSG00000198216		0.597	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	34	0	G	NM_000721		181765945	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.000	A
CACNA1H	8912	genome.wustl.edu	37	16	1254304	1254304	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1254304G>A	ENST00000348261.5	+	10	2545	c.2297G>A	c.(2296-2298)aGg>aAg	p.R766K	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R766K|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R766K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	766					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCACAGCAGAGGGCAGCCCCG	0.721																																																	0													10.0	13.0	12.0					16																	1254304		1981	4128	6109	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2297G>A	16.37:g.1254304G>A	ENSP00000334198:p.Arg766Lys		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.R766K	ENST00000348261.5	37	c.2297	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.557947	0.00910	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96168	-3.93;-3.88	3.95	-5.91	0.02269	.	82.394300	0.00481	U	0.000139	D	0.89508	0.6735	L	0.28458	0.855	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.82472	-0.0440	10	0.12103	T	0.63	.	7.6293	0.28230	0.7208:0.0:0.1594:0.1198	.	766;766	O95180-2;O95180	.;CAC1H_HUMAN	K	766	ENSP00000334198:R766K;ENSP00000351401:R766K	ENSP00000334198:R766K	R	+	2	0	CACNA1H	1194305	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.440000	0.06888	-1.270000	0.02433	-0.656000	0.03901	AGG	CACNA1H	-	NULL	ENSG00000196557		0.721	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	-	0.00	47	0	G	NM_001005407		1254304	+1	tier1	-	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	12.24	43	6	SNP	0.000	A
CACNA1H	8912	genome.wustl.edu	37	16	1259364	1259364	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1259364C>T	ENST00000348261.5	+	17	3944	c.3696C>T	c.(3694-3696)atC>atT	p.I1232I	CACNA1H_ENST00000565831.1_Silent_p.I1232I|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Silent_p.I1232I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1232					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCCTGCGCATCGACAGCCACC	0.716																																																	0													25.0	28.0	27.0					16																	1259364		2092	4162	6254	SO:0001819	synonymous_variant	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3696C>T	16.37:g.1259364C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.I1232	ENST00000348261.5	37	c.3696	CCDS45375.1	16																																																																																			CACNA1H	-	NULL	ENSG00000196557		0.716	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	-	0.00	59	0	C	NM_001005407		1259364	+1	tier1	-	no_errors	ENST00000348261	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.977	T
CACNA1I	8911	genome.wustl.edu	37	22	40060801	40060801	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:40060801G>A	ENST00000402142.3	+	21	3724	c.3724G>A	c.(3724-3726)Gtg>Atg	p.V1242M	CACNA1I_ENST00000400164.3_Missense_Mutation_p.V1207M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V1207M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V1207M|CACNA1I_ENST00000336649.4_Missense_Mutation_p.V1248M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V1242M	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1242					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCTGGAACGTGCTGGATGG	0.667																																																	0													58.0	64.0	62.0					22																	40060801		2111	4230	6341	SO:0001583	missense	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3724G>A	22.37:g.40060801G>A	ENSP00000385019:p.Val1242Met		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.V1248M	ENST00000402142.3	37	c.3742	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877048	0.72180	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	4.3	3.19	0.36642	Ion transport (1);	0.275238	0.32918	N	0.005500	D	0.98676	0.9556	M	0.82923	2.615	0.34677	D	0.724326	D;D;D;D	0.71674	0.961;0.993;0.993;0.998	P;P;P;D	0.70935	0.511;0.759;0.759;0.971	D	0.99886	1.1122	10	0.72032	D	0.01	.	5.3063	0.15805	0.4001:0.0:0.5999:0.0	.	1207;1242;1207;1242	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	M	1242;1207;1242;1207;1248;1207	ENSP00000385019:V1242M;ENSP00000384093:V1207M;ENSP00000383887:V1242M;ENSP00000385680:V1207M;ENSP00000337829:V1248M;ENSP00000383028:V1207M	ENSP00000337829:V1248M	V	+	1	0	CACNA1I	38390747	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.035000	0.49759	1.950000	0.56595	0.462000	0.41574	GTG	CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.667	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	-	0.00	45	0	G	NM_001003406		40060801	+1	tier1	-	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	23.21	43	13	SNP	1.000	A
CACNA2D1	781	genome.wustl.edu	37	7	81637040	81637040	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:81637040C>T	ENST00000356253.5	-	16	1650	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P	MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Silent_p.P465P|MIR1255B1_ENST00000454066.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	465	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGTTGAAGACCGGAAGAGTTC	0.313																																																	0													48.0	47.0	47.0					7																	81637040		2203	4299	6502	SO:0001819	synonymous_variant	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1395G>A	7.37:g.81637040C>T			Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.P465	ENST00000356253.5	37	c.1395		7																																																																																			CACNA2D1	-	pfam_Cache_domain	ENSG00000153956		0.313	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0.00	83	0	C			81637040	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	silent	28.87	68	28	SNP	1.000	T
CACNA2D3	55799	genome.wustl.edu	37	3	54798246	54798247	+	Splice_Site	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:54798246_54798247insT	ENST00000474759.1	+	13	1296_1297	c.1248_1249insT	c.(1249-1251)ttt>Tttt	p.F417fs	CACNA2D3_ENST00000490478.1_Splice_Site_p.F323fs|CACNA2D3_ENST00000288197.5_Splice_Site_p.F417fs|CACNA2D3_ENST00000415676.2_Splice_Site_p.F417fs	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	417	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TTTTGACAGGATTTTTTACCCA	0.48																																																	0																																										SO:0001630	splice_region_variant	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1247-1->T	3.37:g.54798252_54798252dupT			B2RPL6|Q9NY16|Q9NY18	Frame_Shift_Ins	INS	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.T418fs	ENST00000474759.1	37	c.1248_1249	CCDS54598.1	3																																																																																			CACNA2D3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000157445		0.480	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1		0.00	65	0	-		Frame_Shift_Ins	54798247	+1	tier1		no_errors	ENST00000288197	ensembl	human	known	74_37	frame_shift_ins	16.88	64	13	INS	0.225:0.999	T
CACNG6	59285	genome.wustl.edu	37	19	54496175	54496175	+	Missense_Mutation	SNP	G	G	A	rs538013052	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:54496175G>A	ENST00000252729.2	+	1	634	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	CACNG6_ENST00000352529.1_Missense_Mutation_p.R15Q|CACNG6_ENST00000346968.2_Missense_Mutation_p.R15Q	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	15					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AAccggcggcggggggccgcg	0.736																																																	0													9.0	12.0	11.0					19																	54496175		1234	2522	3756	SO:0001583	missense	0			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.44G>A	19.37:g.54496175G>A	ENSP00000252729:p.Arg15Gln			Missense_Mutation	SNP	prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin	p.R15Q	ENST00000252729.2	37	c.44	CCDS12870.1	19	.	.	.	.	.	.	.	.	.	.	.	20.3	3.963814	0.74131	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.31510	1.51;1.49;1.51	2.97	2.97	0.34412	.	0.571192	0.15452	U	0.261622	T	0.37571	0.1008	N	0.24115	0.695	0.30702	N	0.750143	B;D;D	0.71674	0.414;0.998;0.997	B;D;D	0.75484	0.072;0.986;0.968	T	0.24977	-1.0145	10	0.56958	D	0.05	-15.2774	9.5302	0.39189	0.0:0.0:1.0:0.0	.	15;15;15	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	Q	15	ENSP00000252729:R15Q;ENSP00000319135:R15Q;ENSP00000319097:R15Q	ENSP00000252729:R15Q	R	+	2	0	CACNG6	59187987	0.641000	0.27251	0.928000	0.36995	0.959000	0.62525	1.098000	0.31000	1.671000	0.50874	0.471000	0.43371	CGG	CACNG6	-	prints_VDCC_g6su	ENSG00000130433		0.736	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG6	HGNC	protein_coding	OTTHUMT00000139359.1		0.00	9	0	G			54496175	+1			no_errors	ENST00000252729	ensembl	human	known	74_37	missense	35.71	9	5	SNP	0.972	A
CACNG6	59285	genome.wustl.edu	37	19	54502908	54502908	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:54502908G>A	ENST00000252729.2	+	3	1017	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	143					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GGCAGCTGCGGTGATAGCAGT	0.557																																																	0													246.0	236.0	240.0					19																	54502908		2203	4300	6503	SO:0001583	missense	0			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.427G>A	19.37:g.54502908G>A	ENSP00000252729:p.Val143Met			Missense_Mutation	SNP	prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin	p.V143M	ENST00000252729.2	37	c.427	CCDS12870.1	19	.	.	.	.	.	.	.	.	.	.	.	14.61	2.587401	0.46110	.	.	ENSG00000130433	ENST00000252729	T	0.70749	-0.51	4.92	3.86	0.44501	.	0.200186	0.41823	D	0.000815	T	0.50514	0.1620	N	0.11560	0.145	0.41376	D	0.987523	B	0.22541	0.071	B	0.28638	0.092	T	0.50145	-0.8862	10	0.37606	T	0.19	-22.6611	9.819	0.40871	0.1008:0.0:0.8992:0.0	.	143	Q9BXT2	CCG6_HUMAN	M	143	ENSP00000252729:V143M	ENSP00000252729:V143M	V	+	1	0	CACNG6	59194720	0.996000	0.38824	0.695000	0.30226	0.815000	0.46073	3.239000	0.51360	2.446000	0.82766	0.561000	0.74099	GTG	CACNG6	-	prints_Claudin	ENSG00000130433		0.557	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG6	HGNC	protein_coding	OTTHUMT00000139359.1	-	0.00	47	0	G			54502908	+1	tier1	-	no_errors	ENST00000252729	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.454	A
CAD	790	genome.wustl.edu	37	2	27455420	27455420	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:27455420T>C	ENST00000403525.1	+	17	2705	c.2561T>C	c.(2560-2562)cTa>cCa	p.L854P	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Missense_Mutation_p.L917P			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAAATTACCTATACCTAACG	0.532																																																	0													160.0	110.0	127.0					2																	27455420		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2561T>C	2.37:g.27455420T>C	ENSP00000384510:p.Leu854Pro		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.L917P	ENST00000403525.1	37	c.2750		2	.	.	.	.	.	.	.	.	.	.	T	17.80	3.479440	0.63849	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97256	-4.31;-4.31	5.37	5.37	0.77165	Pre-ATP-grasp fold (1);Carbamoyl-phosphate synthetase, large subunit, oligomerisation (2);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98419	1.0576	10	0.87932	D	0	0.0353	14.3307	0.66553	0.0:0.0:0.0:1.0	.	854;917	F8VPD4;P27708	.;PYR1_HUMAN	P	917;854	ENSP00000264705:L917P;ENSP00000384510:L854P	ENSP00000264705:L917P	L	+	2	0	CAD	27308924	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.124000	0.77185	2.256000	0.74724	0.528000	0.53228	CTA	CAD	-	pfam_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_lsu_oligo,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.532	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	-	0.00	58	0	T			27455420	+1	tier1	-	no_errors	ENST00000264705	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	C
CALCOCO1	57658	genome.wustl.edu	37	12	54107679	54107679	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:54107679G>A	ENST00000550804.1	-	13	1657	c.1597C>T	c.(1597-1599)Ccg>Tcg	p.P533S	CALCOCO1_ENST00000548263.1_Missense_Mutation_p.P533S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.P448S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.P533S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	533	C-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGAGCTGCCGGGCAGCCTGTA	0.552																																																	0													40.0	43.0	42.0					12																	54107679		2203	4298	6501	SO:0001583	missense	0			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1597C>T	12.37:g.54107679G>A	ENSP00000449960:p.Pro533Ser		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.P533S	ENST00000550804.1	37	c.1597	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	g	14.17	2.455833	0.43634	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	3.89	3.89	0.44902	.	0.000000	0.35207	N	0.003365	T	0.07773	0.0195	N	0.22421	0.69	0.38730	D	0.953656	B;B;B;B;B;P	0.38300	0.245;0.112;0.206;0.245;0.136;0.626	B;B;B;B;B;B	0.42625	0.142;0.032;0.124;0.142;0.055;0.393	T	0.46275	-0.9203	10	0.21540	T	0.41	-12.8795	13.2614	0.60106	0.0:0.0:1.0:0.0	.	448;533;533;448;533;210	E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2;E9PGB0	.;.;.;.;CACO1_HUMAN;.	S	210;448;533;471;533;533	ENSP00000397189:P448S;ENSP00000262059:P533S;ENSP00000447647:P533S;ENSP00000449960:P533S	ENSP00000262059:P533S	P	-	1	0	CALCOCO1	52393946	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	3.038000	0.49783	2.177000	0.69029	0.457000	0.33378	CCG	CALCOCO1	-	pfam_CoCoA	ENSG00000012822		0.552	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	-	0.00	52	0	G	NM_020898		54107679	-1	tier1	-	no_errors	ENST00000550804	ensembl	human	known	74_37	missense	48.28	15	14	SNP	1.000	A
CALHM2	51063	genome.wustl.edu	37	10	105209411	105209411	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:105209411G>A	ENST00000260743.5	-	3	811	c.288C>T	c.(286-288)gcC>gcT	p.A96A	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000369788.3_Silent_p.A96A|CALHM2_ENST00000393235.1_Silent_p.A96A	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	96					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						AGGTGGGGGCGGCGGAGCAGT	0.617																																																	0													71.0	72.0	71.0					10																	105209411		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.288C>T	10.37:g.105209411G>A			D3DR94|O95893|Q6ZUV9	Silent	SNP	NULL	p.A96	ENST00000260743.5	37	c.288	CCDS7549.1	10																																																																																			CALHM2	-	NULL	ENSG00000138172		0.617	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM2	HGNC	protein_coding	OTTHUMT00000050159.1	-	0.00	45	0	G	NM_015916		105209411	-1	tier1	-	no_errors	ENST00000260743	ensembl	human	known	74_37	silent	10.87	41	5	SNP	0.340	A
CALHM1	255022	genome.wustl.edu	37	10	105218338	105218338	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:105218338C>T	ENST00000329905.5	-	1	307	c.171G>A	c.(169-171)ctG>ctA	p.L57L	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	57					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GTGGCGCCAGCAGGATGCCCG	0.652																																																	0													45.0	51.0	49.0					10																	105218338		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.171G>A	10.37:g.105218338C>T			Q5W091	Silent	SNP	NULL	p.L57	ENST00000329905.5	37	c.171	CCDS7550.1	10																																																																																			CALHM1	-	NULL	ENSG00000185933		0.652	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM1	HGNC	protein_coding	OTTHUMT00000050165.1	-	0.00	95	0	C	NM_001001412		105218338	-1	tier1	-	no_errors	ENST00000329905	ensembl	human	known	74_37	silent	11.90	74	10	SNP	0.999	T
CAMK2A	815	genome.wustl.edu	37	5	149624735	149624735	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:149624735C>T	ENST00000348628.6	-	13	1638	c.973G>A	c.(973-975)Gat>Aat	p.D325N	CAMK2A_ENST00000398376.3_Missense_Mutation_p.D325N|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	325					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCACACCATCGCTCTTCTTG	0.617																																																	0													90.0	98.0	95.0					5																	149624735		2021	4186	6207	SO:0001583	missense	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.973G>A	5.37:g.149624735C>T	ENSP00000261793:p.Asp325Asn		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D325N	ENST00000348628.6	37	c.973	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	c	17.69	3.453037	0.63290	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.68181	-0.3;-0.31	4.85	3.97	0.46021	Protein kinase-like domain (1);	0.068721	0.56097	U	0.000032	T	0.77935	0.4205	M	0.73319	2.225	0.58432	D	0.999999	B;D;B;D	0.76494	0.0;0.999;0.0;0.999	B;P;B;P	0.62740	0.002;0.906;0.001;0.906	T	0.77216	-0.2669	10	0.34782	T	0.22	.	14.9973	0.71443	0.0:0.8564:0.1435:0.0	.	325;325;325;325	Q9UQM7-2;Q9UQM7;A8K161;Q7LDD5	.;KCC2A_HUMAN;.;.	N	325	ENSP00000261793:D325N;ENSP00000381412:D325N	ENSP00000261793:D325N	D	-	1	0	CAMK2A	149604928	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.668000	0.83897	1.011000	0.39340	0.556000	0.70494	GAT	CAMK2A	-	superfamily_Kinase-like_dom	ENSG00000070808		0.617	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	-	0.00	45	0	C	NM_015981		149624735	-1	tier1	-	no_errors	ENST00000398376	ensembl	human	known	74_37	missense	29.31	41	17	SNP	1.000	T
CAMKK2	10645	genome.wustl.edu	37	12	121683003	121683003	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:121683003T>C	ENST00000324774.5	-	15	2321	c.1493A>G	c.(1492-1494)aAc>aGc	p.N498S	CAMKK2_ENST00000538733.1_Missense_Mutation_p.N455S|CAMKK2_ENST00000392473.2_Missense_Mutation_p.N498S|CAMKK2_ENST00000337174.3_Missense_Mutation_p.N498S|CAMKK2_ENST00000412367.2_Missense_Mutation_p.N498S|CAMKK2_ENST00000402834.4_Missense_Mutation_p.N498S|CAMKK2_ENST00000347034.2_Missense_Mutation_p.N455S|CAMKK2_ENST00000392474.2_Missense_Mutation_p.N498S|CAMKK2_ENST00000545538.1_Missense_Mutation_p.N285S|CAMKK2_ENST00000404169.3_Missense_Mutation_p.N498S|CAMKK2_ENST00000446440.2_Missense_Mutation_p.N455S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	498	Calmodulin-binding. {ECO:0000250}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCGAATGGGTTCCCAAAGGA	0.602																																																	0													59.0	53.0	55.0					12																	121683003		2203	4300	6503	SO:0001583	missense	0			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1493A>G	12.37:g.121683003T>C	ENSP00000312741:p.Asn498Ser		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N498S	ENST00000324774.5	37	c.1493	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726167	0.48833	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.93	4.93	0.64822	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.72576	2.205	0.80722	D	1	P;B;B;B;P;P;B;B	0.47191	0.891;0.155;0.155;0.254;0.891;0.582;0.159;0.155	P;B;B;B;P;B;B;B	0.55713	0.782;0.17;0.17;0.139;0.782;0.251;0.082;0.121	T	0.66500	-0.5908	10	0.66056	D	0.02	-6.743	13.7521	0.62915	0.0:0.0:0.0:1.0	.	455;498;498;285;455;455;498;498	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	S	498;455;455;498;498;285;498;498;481;455;498	ENSP00000376266:N498S;ENSP00000321230:N455S;ENSP00000445944:N455S;ENSP00000336634:N498S;ENSP00000312741:N498S;ENSP00000441352:N285S;ENSP00000388368:N498S;ENSP00000384600:N498S;ENSP00000388273:N455S;ENSP00000376265:N498S	ENSP00000312741:N498S	N	-	2	0	CAMKK2	120167386	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.630000	0.83225	1.856000	0.53863	0.459000	0.35465	AAC	CAMKK2	-	superfamily_Kinase-like_dom	ENSG00000110931		0.602	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	-	0.00	26	0	T	NM_172226		121683003	-1	tier1	-	no_errors	ENST00000324774	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	C
CAMKV	79012	genome.wustl.edu	37	3	49898889	49898889	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:49898889C>T	ENST00000477224.1	-	5	902	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	CAMKV_ENST00000463537.1_Missense_Mutation_p.V142M|CAMKV_ENST00000488336.1_Missense_Mutation_p.V142M|CAMKV_ENST00000467248.1_Missense_Mutation_p.V67M|CAMKV_ENST00000466940.1_Intron|CAMKV_ENST00000296471.7_Missense_Mutation_p.V142M|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000498324.1_5'Flank			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCCTGTGCACGATCTTGAGT	0.602																																																	0													78.0	70.0	73.0					3																	49898889		2203	4300	6503	SO:0001583	missense	0			BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.424G>A	3.37:g.49898889C>T	ENSP00000419195:p.Val142Met		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V142M	ENST00000477224.1	37	c.424	CCDS33762.1	3	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246857	0.80024	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000480398	T;T;T;T;T;T	0.55930	2.5;2.5;0.77;2.5;0.49;0.49	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38436	N	0.001684	T	0.65481	0.2695	L	0.35793	1.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.974;0.979;0.991	T	0.68655	-0.5351	10	0.87932	D	0	.	18.4692	0.90766	0.0:1.0:0.0:0.0	.	105;142;142;142	B4DMF2;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;CAMKV_HUMAN	M	142;142;142;142;67;55	ENSP00000296471:V142M;ENSP00000418809:V142M;ENSP00000417614:V142M;ENSP00000419195:V142M;ENSP00000420053:V67M;ENSP00000420000:V55M	ENSP00000296471:V142M	V	-	1	0	CAMKV	49873893	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.775000	0.85489	2.457000	0.83068	0.563000	0.77884	GTG	CAMKV	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000164076		0.602	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKV	HGNC	protein_coding	OTTHUMT00000350584.4	-	0.00	23	0	C	NM_024046		49898889	-1	tier1	-	no_errors	ENST00000477224	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T
CAMSAP1	157922	genome.wustl.edu	37	9	138710463	138710463	+	Splice_Site	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:138710463C>A	ENST00000389532.4	-	13	4024		c.e13-1		CAMSAP1_ENST00000483991.1_Splice_Site|CAMSAP1_ENST00000312405.6_Splice_Site|CAMSAP1_ENST00000409386.3_Splice_Site	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1						cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGCTTTGCGCCTGAGAGAAAC	0.652																																																	0													42.0	38.0	39.0					9																	138710463		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3960-1G>T	9.37:g.138710463C>A			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Splice_Site	SNP	-	e14-1	ENST00000389532.4	37	c.3993-1	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679942	0.68042	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6358	0.91378	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAMSAP1	137850284	1.000000	0.71417	0.992000	0.48379	0.677000	0.39632	7.706000	0.84615	2.386000	0.81285	0.655000	0.94253	.	CAMSAP1	-	-	ENSG00000130559		0.652	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	-	0.00	41	0	C	XM_351857	Intron	138710463	-1	tier1	-	no_errors	ENST00000409386	ensembl	human	known	74_37	splice_site	20.69	23	6	SNP	1.000	A
CAMSAP2	23271	genome.wustl.edu	37	1	200709046	200709046	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:200709046delA	ENST00000236925.4	+	1	140	c.91delA	c.(91-93)aaafs	p.K31fs	CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.K31fs|CAMSAP2_ENST00000358823.2_Frame_Shift_Del_p.K31fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	31					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CTCCAGGGCCAAAATCGCCTG	0.547																																																	0													113.0	106.0	108.0					1																	200709046		2203	4300	6503	SO:0001589	frameshift_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.91delA	1.37:g.200709046delA	ENSP00000236925:p.Lys31fs		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Del	DEL	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.I32fs	ENST00000236925.4	37	c.91		1																																																																																			CAMSAP2	-	NULL	ENSG00000118200		0.547	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2		0.00	59	0	A	NM_203459		200709046	+1	tier1		no_errors	ENST00000236925	ensembl	human	known	74_37	frame_shift_del	16.67	40	8	DEL	1.000	-
CAMSAP2	23271	genome.wustl.edu	37	1	200816338	200816339	+	Splice_Site	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:200816338_200816339insG	ENST00000236925.4	+	10	1192_1193	c.1143_1144insG	c.(1144-1146)ggg>Gggg	p.G382fs	CAMSAP2_ENST00000413307.2_Intron|CAMSAP2_ENST00000358823.2_Splice_Site_p.G371fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	382					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TCCATTGCAGTGGGGAAGGAGC	0.347																																																	0																																										SO:0001630	splice_region_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1143-1->G	1.37:g.200816342_200816342dupG			B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Ins	INS	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.E382fs	ENST00000236925.4	37	c.1143_1144		1																																																																																			CAMSAP2	-	NULL	ENSG00000118200		0.347	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2		0.00	62	0	0	NM_203459	Frame_Shift_Ins	200816339	+1			no_errors	ENST00000236925	ensembl	human	known	74_37	frame_shift_ins	11.90	74	10	INS	0.550:0.591	G
CAMTA1	23261	genome.wustl.edu	37	1	7723713	7723714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:7723713_7723714insC	ENST00000303635.7	+	9	1313_1314	c.1106_1107insC	c.(1105-1110)gacccgfs	p.DP369fs	CAMTA1_ENST00000439411.2_Frame_Shift_Ins_p.DP369fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCAACAGCGACCCGGACATGG	0.644			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0																																										SO:0001589	frameshift_variant	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1109dupC	1.37:g.7723716_7723716dupC	ENSP00000306522:p.Asp369fs		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Frame_Shift_Ins	INS	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.D371fs	ENST00000303635.7	37	c.1106_1107	CCDS30576.1	1																																																																																			CAMTA1	-	NULL	ENSG00000171735		0.644	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3		0.00	57	0	-	NM_015215		7723714	+1	tier1		no_errors	ENST00000303635	ensembl	human	known	74_37	frame_shift_ins	11.36	39	5	INS	1.000:1.000	C
CAPNS1	826	genome.wustl.edu	37	19	36633868	36633868	+	Splice_Site	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36633868C>T	ENST00000246533.3	+	5	989	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	CAPNS1_ENST00000588815.1_Splice_Site_p.H131Y|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000587718.1_Splice_Site_p.H131Y|CAPNS1_ENST00000590874.1_Splice_Site_p.H101Y|CAPNS1_ENST00000588780.1_Splice_Site_p.H131Y|AD001527.7_ENST00000604228.1_RNA	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	131					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTGACACGACGTAAGTGACC	0.537																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)												0													135.0	114.0	121.0					19																	36633868		2203	4300	6503	SO:0001630	splice_region_variant	0			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.391+1C>T	19.37:g.36633868C>T			A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.H131Y	ENST00000246533.3	37	c.391	CCDS12489.1	19	.	.	.	.	.	.	.	.	.	.	c	16.79	3.220311	0.58560	.	.	ENSG00000126247	ENST00000246533	T	0.39406	1.08	4.85	4.85	0.62838	EF-hand-like domain (1);	0.052655	0.85682	D	0.000000	T	0.45538	0.1347	M	0.89287	3.02	0.80722	D	1	P	0.45011	0.848	B	0.29663	0.105	T	0.63314	-0.6665	10	0.59425	D	0.04	.	15.8481	0.78907	0.0:1.0:0.0:0.0	.	131	P04632	CPNS1_HUMAN	Y	131	ENSP00000246533:H131Y	ENSP00000246533:H131Y	H	+	1	0	CAPNS1	41325708	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.207000	0.65197	2.665000	0.90641	0.655000	0.94253	CAC	CAPNS1	-	NULL	ENSG00000126247		0.537	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	HGNC	protein_coding	OTTHUMT00000457411.2	-	0.00	46	0	C		Missense_Mutation	36633868	+1	tier1	-	no_errors	ENST00000588780	ensembl	human	known	74_37	missense	31.82	15	7	SNP	1.000	T
CARD14	79092	genome.wustl.edu	37	17	78163639	78163639	+	Missense_Mutation	SNP	C	C	T	rs145167842	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:78163639C>T	ENST00000573882.1	+	8	1467	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.R311W|CARD14_ENST00000392434.2_Missense_Mutation_p.R74W|CARD14_ENST00000570421.1_Missense_Mutation_p.R311W			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	311					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTGCGGGAGCGGGCCGTGGC	0.682																																																	0													21.0	28.0	26.0					17																	78163639		2201	4289	6490	SO:0001583	missense	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.931C>T	17.37:g.78163639C>T	ENSP00000458715:p.Arg311Trp		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like	p.R311W	ENST00000573882.1	37	c.931	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043563	0.36085	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.35789	1.29;1.29	4.06	0.432	0.16529	.	0.213404	0.38837	N	0.001556	T	0.45895	0.1365	L	0.44542	1.39	0.23685	N	0.997115	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.68765	0.642;0.96;0.732	T	0.34576	-0.9823	10	0.87932	D	0	-32.4913	10.7825	0.46386	0.4916:0.5084:0.0:0.0	.	311;74;311	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	W	311;74;74	ENSP00000344549:R311W;ENSP00000376229:R74W	ENSP00000308507:R74W	R	+	1	2	CARD14	75778234	0.928000	0.31464	0.989000	0.46669	0.027000	0.11550	-0.010000	0.12743	0.333000	0.23563	-0.230000	0.12252	CGG	CARD14	-	NULL	ENSG00000141527		0.682	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	-	0.00	91	0	C			78163639	+1	tier1	-	no_errors	ENST00000344227	ensembl	human	known	74_37	missense	20.24	66	17	SNP	0.963	T
CARD14	79092	genome.wustl.edu	37	17	78176100	78176100	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:78176100C>T	ENST00000573882.1	+	17	2636	c.2100C>T	c.(2098-2100)aaC>aaT	p.N700N	RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000344227.2_Silent_p.N700N|RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000392434.2_Missense_Mutation_p.T421M|CARD14_ENST00000570421.1_Silent_p.N700N			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	700					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCATTGCAACGAGGTCCTGC	0.627																																																	0													73.0	64.0	67.0					17																	78176100		2203	4300	6503	SO:0001819	synonymous_variant	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2100C>T	17.37:g.78176100C>T			B8QQJ3|Q9BVB5	Missense_Mutation	SNP	superfamily_PDZ	p.T421M	ENST00000573882.1	37	c.1262	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	5.524	0.281532	0.10458	.	.	ENSG00000141527	ENST00000392434	T	0.16897	2.31	4.88	-9.13	0.00704	.	.	.	.	.	T	0.18676	0.0448	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.45512	-0.9256	6	0.87932	D	0	-12.2286	11.9799	0.53113	0.0:0.6094:0.1031:0.2875	.	.	.	.	M	421	ENSP00000376229:T421M	ENSP00000376229:T421M	T	+	2	0	CARD14	75790695	0.025000	0.19082	0.001000	0.08648	0.082000	0.17680	-1.082000	0.03400	-1.977000	0.00994	-0.812000	0.03155	ACG	CARD14	-	NULL	ENSG00000141527		0.627	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	-	0.00	41	0	C			78176100	+1	tier1	-	no_errors	ENST00000392434	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.089	T
CARS	833	genome.wustl.edu	37	11	3028167	3028167	+	Silent	SNP	G	G	A	rs375211080		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:3028167G>A	ENST00000397111.5	-	18	2087	c.1842C>T	c.(1840-1842)agC>agT	p.S614S	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Silent_p.S614S|CARS_ENST00000397114.3_Silent_p.S604S|CARS_ENST00000380525.4_Silent_p.S697S|CARS_ENST00000401769.3_Silent_p.S627S			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	614					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GCAGGGCATCGCTGAGCTGCA	0.592			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0								G	,,,	0,4404		0,0,2202	147.0	141.0	143.0		2091,2091,1842,1842	-6.2	0.7	11		143	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CARS	NM_001014437.2,NM_001194997.1,NM_001751.5,NM_139273.3	,,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,,	697/832,697/810,614/749,614/727	3028167	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1842C>T	11.37:g.3028167G>A			Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.S697	ENST00000397111.5	37	c.2091	CCDS7742.1	11																																																																																			CARS	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase	ENSG00000110619		0.592	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4		0.00	25	0	G	NM_001751		3028167	-1			no_errors	ENST00000380525	ensembl	human	known	74_37	silent	18.18	9	2	SNP	0.598	A
CARNS1	57571	genome.wustl.edu	37	11	67190856	67190856	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:67190856T>C	ENST00000307823.3	+	9	1720	c.1268T>C	c.(1267-1269)gTg>gCg	p.V423A	CARNS1_ENST00000445895.2_Missense_Mutation_p.V546A|CARNS1_ENST00000423745.2_Missense_Mutation_p.V423A|CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000531040.1_Missense_Mutation_p.V520A	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	423					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CTGCACCTCGTGGAGTCAGAC	0.592																																																	0													67.0	72.0	70.0					11																	67190856		2084	4214	6298	SO:0001583	missense	0				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1268T>C	11.37:g.67190856T>C	ENSP00000308268:p.Val423Ala		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.V546A	ENST00000307823.3	37	c.1637	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	T	14.34	2.507161	0.44558	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	T;T;T;T	0.40756	1.08;1.02;1.02;1.02	5.14	5.14	0.70334	.	.	.	.	.	T	0.36744	0.0978	L	0.36672	1.1	0.38642	D	0.951627	B;P	0.37207	0.451;0.587	B;B	0.38156	0.137;0.266	T	0.40608	-0.9554	9	0.54805	T	0.06	-6.461	13.9273	0.63970	0.0:0.0:0.0:1.0	.	423;562	A5YM72;A5YM72-3	CRNS1_HUMAN;.	A	520;423;520;423;546	ENSP00000431670:V520A;ENSP00000308268:V423A;ENSP00000401519:V423A;ENSP00000389009:V546A	ENSP00000308268:V423A	V	+	2	0	CARNS1	66947432	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.701000	0.68325	1.940000	0.56252	0.448000	0.29417	GTG	CARNS1	-	superfamily_PreATP-grasp_dom	ENSG00000172508		0.592	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	-	0.00	37	0	T	NM_020811		67190856	+1	tier1	-	no_errors	ENST00000445895	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	C
CASC1	55259	genome.wustl.edu	37	12	25308344	25308344	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:25308344A>T	ENST00000320267.9	-	4	264	c.183T>A	c.(181-183)gaT>gaA	p.D61E	CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.D67E|CASC1_ENST00000354189.5_Missense_Mutation_p.D125E|CASC1_ENST00000395990.2_Missense_Mutation_p.D21E|CASC1_ENST00000545133.1_Missense_Mutation_p.D2E|CASC1_ENST00000557684.1_5'UTR	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	61	Glu-rich.									breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCCTTTCTAGATCCTGTTGCA	0.338																																																	0													84.0	85.0	85.0					12																	25308344		2203	4297	6500	SO:0001583	missense	0			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.183T>A	12.37:g.25308344A>T	ENSP00000313141:p.Asp61Glu		B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	pfam_Casc1_domain,prints_Casc1	p.D67E	ENST00000320267.9	37	c.201	CCDS41762.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.99|18.99	3.740135|3.740135	0.69304|0.69304	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000395992;ENST00000545133;ENST00000389246;ENST00000554347|ENST00000556006	T;T;T;T;T;T|.	0.61392|.	1.35;1.75;1.69;1.05;0.11;1.95|.	4.71|4.71	2.39|2.39	0.29439|0.29439	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61035|0.61035	0.2315|0.2315	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.69078|.	0.93;0.997;0.996;0.997|.	P;D;P;D|.	0.66084|.	0.619;0.941;0.875;0.941|.	T|T	0.55921|0.55921	-0.8064|-0.8064	10|5	0.06236|.	T|.	0.91|.	-30.7739|-30.7739	5.6125|5.6125	0.17414|0.17414	0.7766:0.0:0.2234:0.0|0.7766:0.0:0.2234:0.0	.|.	2;125;61;67|.	F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;CASC1_HUMAN;.|.	E|T	125;67;61;21;67;2;21;21|37	ENSP00000346126:D125E;ENSP00000379310:D67E;ENSP00000313141:D61E;ENSP00000379313:D21E;ENSP00000437373:D2E;ENSP00000451232:D21E|.	ENSP00000313141:D61E|.	D|S	-|-	3|1	2|0	CASC1|CASC1	25199611|25199611	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.899000|0.899000	0.52679|0.52679	2.360000|2.360000	0.44151|0.44151	0.424000|0.424000	0.26061|0.26061	0.523000|0.523000	0.50628|0.50628	GAT|TCT	CASC1	-	NULL	ENSG00000118307		0.338	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASC1	HGNC	protein_coding	OTTHUMT00000316761.1	-	0.00	28	0	A	NM_018272		25308344	-1	tier1	-	no_errors	ENST00000395987	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.993	T
CASC5	57082	genome.wustl.edu	37	15	40913213	40913213	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:40913213G>A	ENST00000346991.5	+	11	1219	c.829G>A	c.(829-831)Gcc>Acc	p.A277T	CASC5_ENST00000399668.2_Missense_Mutation_p.A251T|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	277	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACCGAACAGTGCCTCTTCTAC	0.333																																																	0													48.0	46.0	46.0					15																	40913213		1839	4085	5924	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.829G>A	15.37:g.40913213G>A	ENSP00000335463:p.Ala277Thr		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.A277T	ENST00000346991.5	37	c.829	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	G	9.216	1.032158	0.19590	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.06068	3.35;3.35	6.04	1.03	0.20045	.	0.903310	0.09568	N	0.784635	T	0.06416	0.0165	L	0.49350	1.555	0.09310	N	1	B;B;B	0.27351	0.084;0.084;0.176	B;B;B	0.23419	0.022;0.022;0.046	T	0.42378	-0.9455	10	0.27785	T	0.31	.	5.7547	0.18166	0.2661:0.0:0.6061:0.1278	.	251;277;251	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	T	277;251;251	ENSP00000335463:A277T;ENSP00000382576:A251T	ENSP00000260369:A251T	A	+	1	0	CASC5	38700505	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	0.007000	0.13174	-0.042000	0.13535	-0.311000	0.09066	GCC	CASC5	-	NULL	ENSG00000137812		0.333	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	-	0.00	57	0	G	NM_144508		40913213	+1	tier1	-	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.003	A
CATSPER1	117144	genome.wustl.edu	37	11	65792817	65792817	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:65792817C>T	ENST00000312106.5	-	1	1171	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	345					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GACTCCTGTACGAGAAGCAGC	0.597																																																	0													120.0	97.0	105.0					11																	65792817		2201	4296	6497	SO:0001583	missense	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1034G>A	11.37:g.65792817C>T	ENSP00000309052:p.Arg345His		Q96P76	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.R345H	ENST00000312106.5	37	c.1034	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	C	0.512	-0.866270	0.02590	.	.	ENSG00000175294	ENST00000312106	D	0.96940	-4.18	2.15	-4.29	0.03721	.	.	.	.	.	D	0.83524	0.5273	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.76187	-0.3051	9	0.16896	T	0.51	.	5.2396	0.15464	0.0:0.5208:0.1772:0.302	.	345	Q8NEC5	CTSR1_HUMAN	H	345	ENSP00000309052:R345H	ENSP00000309052:R345H	R	-	2	0	CATSPER1	65549393	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.628000	0.02031	-1.542000	0.01725	-0.501000	0.04562	CGT	CATSPER1	-	NULL	ENSG00000175294		0.597	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1	-	0.00	46	0	C	NM_053054		65792817	-1	tier1	-	no_errors	ENST00000312106	ensembl	human	known	74_37	missense	31.82	45	21	SNP	0.000	T
CATSPER2	117155	genome.wustl.edu	37	15	43931160	43931160	+	Missense_Mutation	SNP	C	C	T	rs368268477		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:43931160C>T	ENST00000321596.5	-	7	983	c.784G>A	c.(784-786)Gtc>Atc	p.V262I	CATSPER2_ENST00000354127.4_Missense_Mutation_p.V262I|CATSPER2_ENST00000381761.1_Missense_Mutation_p.V268I|RNU6-610P_ENST00000384264.1_RNA|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Missense_Mutation_p.V262I|CATSPER2_ENST00000396879.1_Missense_Mutation_p.V262I			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	262					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCTGAGAAGACGTAGACACCA	0.502																																																	0								C	ILE/VAL,ILE/VAL	0,4398		0,0,2199	118.0	96.0	104.0		784,784	1.4	1.0	15		104	1,8591		0,1,4295	no	missense,missense	CATSPER2	NM_054020.2,NM_172095.1	29,29	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	262/529,262/531	43931160	1,12989	2199	4296	6495	SO:0001583	missense	0			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.784G>A	15.37:g.43931160C>T	ENSP00000321463:p.Val262Ile		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.V262I	ENST00000321596.5	37	c.784	CCDS10099.1	15	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421089	0.25639	0.0	1.16E-4	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9	3.9	1.4	0.22301	Ion transport (1);	0.178583	0.35096	N	0.003459	D	0.92622	0.7656	N	0.12182	0.205	0.19300	N	0.999973	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	D	0.84597	0.0670	10	0.22706	T	0.39	.	7.989	0.30229	0.579:0.421:0.0:0.0	.	268;262	F8W9H2;Q96P56	.;CTSR2_HUMAN	I	262;262;268;262;262;262	ENSP00000380088:V262I;ENSP00000371180:V268I;ENSP00000321463:V262I;ENSP00000339137:V262I;ENSP00000347613:V262I	ENSP00000299989:V262I	V	-	1	0	CATSPER2	41718452	1.000000	0.71417	0.996000	0.52242	0.621000	0.37620	1.520000	0.35899	0.164000	0.19529	-0.569000	0.04157	GTC	CATSPER2	-	pfam_Ion_trans_dom	ENSG00000166762		0.502	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	-	0.00	59	0	C	NM_054020		43931160	-1	tier1	-	no_errors	ENST00000321596	ensembl	human	known	74_37	missense	14.52	53	9	SNP	1.000	T
CATSPER2P1	440278	genome.wustl.edu	37	15	44028271	44028271	+	RNA	SNP	G	G	A	rs567506899		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:44028271G>A	ENST00000381680.2	-	0	1513				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		caccgcacccggccAATTTGT	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15592	0.0		0.0	False		,,,				2504	0.0																0																																												0			BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44028271G>A				RNA	SNP	-	NULL	ENST00000381680.2	37	NULL		15																																																																																			CATSPER2P1	-	-	ENSG00000205771		0.532	CATSPER2P1-002	KNOWN	basic	processed_transcript	CATSPER2P1	HGNC	pseudogene	OTTHUMT00000133242.1	-	0.00	37	0	G	NR_002318		44028271	-1	tier1	-	no_errors	ENST00000381680	ensembl	human	known	74_37	rna	25.00	21	7	SNP	0.000	A
CATSPER3	347732	genome.wustl.edu	37	5	134347238	134347238	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:134347238G>A	ENST00000282611.6	+	8	1208	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	374					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAGATCGTGCATGTGCTGA	0.567																																																	0													85.0	74.0	78.0					5																	134347238		2203	4300	6503	SO:0001819	synonymous_variant	0			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.1122G>A	5.37:g.134347238G>A			Q86XS6	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.V374	ENST00000282611.6	37	c.1122	CCDS4181.1	5																																																																																			CATSPER3	-	NULL	ENSG00000152705		0.567	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER3	HGNC	protein_coding	OTTHUMT00000251191.2	-	0.00	61	0	G	NM_178019		134347238	+1	tier1	-	no_errors	ENST00000282611	ensembl	human	known	74_37	silent	14.29	36	6	SNP	0.000	A
CBFA2T3	863	genome.wustl.edu	37	16	88958316	88958316	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:88958316G>A	ENST00000268679.4	-	5	1081	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R204W|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R143W|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R153W|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R143W	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	229	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		ACAAACGGCCGCAGAGGGAAG	0.577			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	0													97.0	84.0	88.0					16																	88958316		2195	4299	6494	SO:0001583	missense	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.685C>T	16.37:g.88958316G>A	ENSP00000268679:p.Arg229Trp		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.R229W	ENST00000268679.4	37	c.685	CCDS10972.1	16	.	.	.	.	.	.	.	.	.	.	g	14.84	2.654797	0.47467	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.54	2.5	0.30297	TAFH/NHR1 (3);	0.111775	0.64402	D	0.000015	T	0.48409	0.1498	M	0.64170	1.965	0.54753	D	0.999989	B;B;B;B	0.33583	0.062;0.037;0.18;0.418	B;B;B;B	0.41299	0.032;0.067;0.335;0.353	T	0.50189	-0.8857	10	0.87932	D	0	-19.2182	8.9465	0.35762	0.079:0.0:0.7685:0.1526	.	204;229;229;143	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	W	143;229;204;153;143	ENSP00000332122:R143W;ENSP00000268679:R229W;ENSP00000395739:R204W;ENSP00000401254:R153W;ENSP00000353449:R143W	ENSP00000268679:R229W	R	-	1	2	CBFA2T3	87485817	1.000000	0.71417	0.638000	0.29380	0.856000	0.48823	3.063000	0.49978	0.593000	0.29745	0.556000	0.70494	CGG	CBFA2T3	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO	ENSG00000129993		0.577	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	-	0.00	44	0	G	NM_005187		88958316	-1	tier1	-	no_errors	ENST00000268679	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	A
CBLB	868	genome.wustl.edu	37	3	105377882	105377882	+	Missense_Mutation	SNP	C	C	T	rs561530977		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:105377882C>T	ENST00000264122.4	-	19	3202	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	CBLB_ENST00000407712.1_Missense_Mutation_p.E176K|CBLB_ENST00000394027.3_Missense_Mutation_p.E939K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	961	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CGGGCAACTTCGACATTATTC	0.468			Mis S		AML								C|||	1	0.000199681	0.0008	0.0	5008	,	,		18434	0.0		0.0	False		,,,				2504	0.0				GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													117.0	113.0	114.0					3																	105377882		2203	4300	6503	SO:0001583	missense	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2881G>A	3.37:g.105377882C>T	ENSP00000264122:p.Glu961Lys		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.E961K	ENST00000264122.4	37	c.2881	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692777	0.68271	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.65	3.86	0.44501	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);	0.310145	0.38326	N	0.001727	T	0.27063	0.0663	L	0.27053	0.805	0.80722	D	1	B;P;P	0.40794	0.001;0.729;0.729	B;B;B	0.31869	0.005;0.086;0.137	T	0.07214	-1.0784	10	0.87932	D	0	-16.7666	11.9175	0.52774	0.0:0.8591:0.0:0.1409	.	939;961;939	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	K	300;961;176;939	ENSP00000377598:E300K;ENSP00000264122:E961K;ENSP00000384170:E176K;ENSP00000377595:E939K	ENSP00000264122:E961K	E	-	1	0	CBLB	106860572	1.000000	0.71417	0.920000	0.36463	0.996000	0.88848	6.754000	0.74909	0.727000	0.32360	0.655000	0.94253	GAA	CBLB	-	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000114423		0.468	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	-	0.00	75	0	C	NM_170662		105377882	-1	tier1	-	no_errors	ENST00000264122	ensembl	human	known	74_37	missense	35.59	38	21	SNP	1.000	T
CBLN1	869	genome.wustl.edu	37	16	49315200	49315200	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:49315200G>A	ENST00000219197.6	-	1	542	c.177C>T	c.(175-177)agC>agT	p.S59S	CBLN1_ENST00000536749.1_Silent_p.S59S	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	59	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				CCACCTTGGCGCTGCCAGAGC	0.612																																																	0													52.0	53.0	53.0					16																	49315200		2200	4300	6500	SO:0001819	synonymous_variant	0			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.177C>T	16.37:g.49315200G>A			B2RAN9|P02682|Q52M09	Silent	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.S59	ENST00000219197.6	37	c.177	CCDS10736.1	16																																																																																			CBLN1	-	smart_C1q,pfscan_C1q	ENSG00000102924		0.612	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN1	HGNC	protein_coding	OTTHUMT00000256845.4	-	0.00	54	0	G	NM_004352		49315200	-1	tier1	-	no_errors	ENST00000219197	ensembl	human	known	74_37	silent	13.89	62	10	SNP	1.000	A
CBX6	23466	genome.wustl.edu	37	22	39262968	39262968	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:39262968C>T	ENST00000407418.3	-	5	608	c.485G>A	c.(484-486)cGc>cAc	p.R162H	CBX6_ENST00000216083.6_Missense_Mutation_p.R144H			O95503	CBX6_HUMAN	chromobox homolog 6	162					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CTTCACCTTGCGGTTGATGAT	0.731																																																	0													11.0	12.0	12.0					22																	39262968		2167	4238	6405	SO:0001583	missense	0				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.485G>A	22.37:g.39262968C>T	ENSP00000384490:p.Arg162His		A8KAH0|Q96EM5	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.R162H	ENST00000407418.3	37	c.485	CCDS13980.1	22	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042209	0.55003	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.34	3.33	0.38152	.	0.431976	0.19405	N	0.115070	T	0.37156	0.0993	L	0.34521	1.04	0.49389	D	0.999789	P	0.51537	0.946	B	0.36418	0.224	T	0.30090	-0.9990	9	0.51188	T	0.08	.	12.181	0.54211	0.0:0.9167:0.0:0.0833	.	162	O95503	CBX6_HUMAN	H	162;144	.	ENSP00000216083:R144H	R	-	2	0	CBX6	37592914	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	6.755000	0.74914	1.050000	0.40346	0.407000	0.27541	CGC	CBX6	-	NULL	ENSG00000183741		0.731	CBX6-001	KNOWN	basic|CCDS	protein_coding	CBX6	HGNC	protein_coding	OTTHUMT00000318190.1	-	0.00	69	0	C	NM_014292		39262968	-1	tier1	-	no_errors	ENST00000407418	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	T
CC2D1B	200014	genome.wustl.edu	37	1	52826167	52826167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:52826167G>A	ENST00000371586.2	-	6	670	c.532C>T	c.(532-534)Cga>Tga	p.R178*	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Nonsense_Mutation_p.R178*	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	178						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCAGCCTCTCGGTAGTTGTGA	0.637																																																	0													35.0	35.0	35.0					1																	52826167		2203	4300	6503	SO:0001587	stop_gained	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.532C>T	1.37:g.52826167G>A	ENSP00000360642:p.Arg178*		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Nonsense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.R178*	ENST00000371586.2	37	c.532	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236790	0.58886	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	.	.	.	5.42	2.49	0.30216	.	0.759162	0.12304	N	0.480842	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-0.1989	6.9988	0.24797	0.0795:0.0:0.4782:0.4423	.	.	.	.	X	178;178;92	.	ENSP00000284376:R178X	R	-	1	2	CC2D1B	52598755	0.915000	0.31059	0.437000	0.26809	0.097000	0.18754	0.733000	0.26087	0.253000	0.21552	-0.226000	0.12346	CGA	CC2D1B	-	smart_DM14	ENSG00000154222		0.637	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1		0.00	83	0	G	NM_032449		52826167	-1			no_errors	ENST00000371586	ensembl	human	known	74_37	nonsense	6.76	69	5	SNP	0.234	A
CCAR2	57805	genome.wustl.edu	37	8	22470553	22470553	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:22470553G>A	ENST00000308511.4	+	8	857	c.608G>A	c.(607-609)cGc>cAc	p.R203H	CCAR2_ENST00000389279.3_Missense_Mutation_p.R203H|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_5'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	203					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TCCAAGAAACGCAAACAGCGG	0.483																																																	0													113.0	94.0	100.0					8																	22470553		2203	4300	6503	SO:0001583	missense	0			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.608G>A	8.37:g.22470553G>A	ENSP00000310670:p.Arg203His		A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.R203H	ENST00000308511.4	37	c.608	CCDS34863.1	8	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019678	0.93462	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000522599	T;T;T	0.56103	1.3;1.3;0.48	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.63988	0.2558	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.62812	-0.6775	10	0.54805	T	0.06	-18.089	17.4969	0.87720	0.0:0.0:1.0:0.0	.	203	Q8N163	K1967_HUMAN	H	203;203;21	ENSP00000310670:R203H;ENSP00000373930:R203H;ENSP00000429739:R21H	ENSP00000310670:R203H	R	+	2	0	KIAA1967	22526498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.197000	0.65141	2.941000	0.99782	0.655000	0.94253	CGC	CCAR2	-	NULL	ENSG00000158941		0.483	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR2	HGNC	protein_coding	OTTHUMT00000375865.1	-	0.00	79	0	G	NM_021174		22470553	+1	tier1	-	no_errors	ENST00000308511	ensembl	human	known	74_37	missense	11.39	70	9	SNP	1.000	A
CCDC106	29903	genome.wustl.edu	37	19	56163825	56163825	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:56163825T>C	ENST00000586790.1	+	5	1460	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000588740.1_Missense_Mutation_p.Y186H|U2AF2_ENST00000308924.4_5'Flank|CCDC106_ENST00000591241.1_Missense_Mutation_p.Y151H|CCDC106_ENST00000308964.3_Missense_Mutation_p.Y186H|CCDC106_ENST00000591578.1_Missense_Mutation_p.Y186H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	186						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCTCTGCCGGTACAAGAAGAT	0.657																																																	0													40.0	41.0	41.0					19																	56163825		2203	4300	6503	SO:0001583	missense	0			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.556T>C	19.37:g.56163825T>C	ENSP00000465757:p.Tyr186His		B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	NULL	p.Y186H	ENST00000586790.1	37	c.556	CCDS33118.1	19	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339928	0.81911	.	.	ENSG00000173581	ENST00000308964	.	.	.	4.16	3.12	0.35913	.	0.000000	0.64402	D	0.000001	T	0.68026	0.2956	L	0.54323	1.7	0.58432	D	0.999996	D	0.76494	0.999	D	0.85130	0.997	T	0.67444	-0.5669	9	0.87932	D	0	5.8895	9.1553	0.36990	0.1636:0.0:0.0:0.8364	.	186	Q9BWC9	CC106_HUMAN	H	186	.	ENSP00000309681:Y186H	Y	+	1	0	CCDC106	60855637	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	7.344000	0.79328	0.547000	0.28938	0.454000	0.30748	TAC	CCDC106	-	NULL	ENSG00000173581		0.657	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC106	HGNC	protein_coding	OTTHUMT00000453593.1	-	0.00	81	0	T	NM_013301		56163825	+1	tier1	-	no_errors	ENST00000308964	ensembl	human	known	74_37	missense	10.96	65	8	SNP	1.000	C
CCDC108	255101	genome.wustl.edu	37	2	219868931	219868933	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:219868931_219868933delCTC	ENST00000341552.5	-	33	5379_5381	c.5296_5298delGAG	c.(5296-5298)gagdel	p.E1766del	CCDC108_ENST00000453220.1_In_Frame_Del_p.E1766del|CCDC108_ENST00000441968.1_In_Frame_Del_p.E1766del|AC097468.4_ENST00000441450.1_RNA|MIR375_ENST00000362103.2_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1766	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		cttcacccttctcctcctccccc	0.557																																																	0																																										SO:0001651	inframe_deletion	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5296_5298delGAG	2.37:g.219868937_219868939delCTC	ENSP00000340776:p.Glu1766del		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	In_Frame_Del	DEL	superfamily_PapD-like,pfscan_MSP_dom	p.E1766in_frame_del	ENST00000341552.5	37	c.5298_5296	CCDS2430.2	2																																																																																			CCDC108	-	NULL	ENSG00000181378		0.557	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4		0.00	31	0	CTC	NM_194302		219868933	-1	tier1		no_errors	ENST00000341552	ensembl	human	known	74_37	in_frame_del	17.86	23	5	DEL	0.056:0.050:0.034	-
CCDC112	153733	genome.wustl.edu	37	5	114607065	114607065	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:114607065G>A	ENST00000512261.1	-	8	1344	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	CCDC112_ENST00000506442.1_Missense_Mutation_p.R310C|CCDC112_ENST00000379611.5_Missense_Mutation_p.R393C|CCDC112_ENST00000395557.4_Missense_Mutation_p.R310C			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	310										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTAAACTGGCGCTGGCGTTCT	0.358																																																	0													136.0	144.0	142.0					5																	114607065		2202	4300	6502	SO:0001583	missense	0			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.928C>T	5.37:g.114607065G>A	ENSP00000423712:p.Arg310Cys		Q6A334	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.R393C	ENST00000512261.1	37	c.1177	CCDS4117.1	5	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255077	0.80135	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.25085	1.89;1.82;1.82;1.82	6.17	5.29	0.74685	.	0.211814	0.49305	D	0.000146	T	0.42921	0.1224	L	0.54323	1.7	0.47037	D	0.99929	D;D;D	0.76494	0.999;0.999;0.992	P;P;P	0.58130	0.833;0.833;0.752	T	0.39742	-0.9599	10	0.87932	D	0	-4.2486	16.4344	0.83871	0.0:0.0:0.8674:0.1326	.	310;393;310	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	C	393;310;310;310	ENSP00000368931:R393C;ENSP00000423712:R310C;ENSP00000424876:R310C;ENSP00000378925:R310C	ENSP00000368931:R393C	R	-	1	0	CCDC112	114634964	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.114000	0.50383	1.584000	0.49913	0.655000	0.94253	CGC	CCDC112	-	NULL	ENSG00000164221		0.358	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1	-	0.00	41	0	G	NM_152549		114607065	-1	tier1	-	no_errors	ENST00000379611	ensembl	human	known	74_37	missense	30.43	32	14	SNP	1.000	A
CCDC129	223075	genome.wustl.edu	37	7	31618022	31618022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:31618022G>T	ENST00000407970.3	+	8	1182	c.1144G>T	c.(1144-1146)Gga>Tga	p.G382*	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Nonsense_Mutation_p.G408*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.G290*	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	382										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGCAGGCAAAGGACCAGACTC	0.483																																																	0																																										SO:0001587	stop_gained	0			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1144G>T	7.37:g.31618022G>T	ENSP00000384416:p.Gly382*		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Nonsense_Mutation	SNP	NULL	p.G408*	ENST00000407970.3	37	c.1222	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	G	38	6.830510	0.97869	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	.	.	.	5.61	-0.22	0.13130	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5263	2.756	0.05293	0.1721:0.3899:0.3143:0.1237	.	.	.	.	X	382;408;392;290	.	.	G	+	1	0	CCDC129	31584547	0.018000	0.18449	0.005000	0.12908	0.571000	0.35966	0.005000	0.13129	0.090000	0.17273	0.655000	0.94253	GGA	CCDC129	-	NULL	ENSG00000180347		0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1		0.00	11	0	G	NM_194300		31618022	+1			no_errors	ENST00000451887	ensembl	human	known	74_37	nonsense	18.18	9	2	SNP	0.007	T
CCDC129	223075	genome.wustl.edu	37	7	31682910	31682910	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:31682910T>C	ENST00000407970.3	+	11	1964	c.1926T>C	c.(1924-1926)tgT>tgC	p.C642C	CCDC129_ENST00000319386.3_Silent_p.C494C|CCDC129_ENST00000451887.2_Silent_p.C668C|CCDC129_ENST00000409210.1_Silent_p.C550C	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	642										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATCACAGTGTATCCCCAAGC	0.498																																																	0													131.0	113.0	119.0					7																	31682910		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1926T>C	7.37:g.31682910T>C			A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	NULL	p.C668	ENST00000407970.3	37	c.2004	CCDS5435.2	7																																																																																			CCDC129	-	NULL	ENSG00000180347		0.498	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	-	0.00	25	0	T	NM_194300		31682910	+1	tier1	-	no_errors	ENST00000451887	ensembl	human	known	74_37	silent	33.33	18	9	SNP	0.000	C
CCDC166	100130274	genome.wustl.edu	37	8	144789882	144789882	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:144789882C>T	ENST00000542437.1	-	1	397	c.398G>A	c.(397-399)cGc>cAc	p.R133H	RP11-429J17.4_ENST00000527579.1_RNA	NM_001162914.1	NP_001156386.1	P0CW27	CC166_HUMAN	coiled-coil domain containing 166	133																	CTGTGCCGCGCGCGCCTCCAT	0.736																																																	0													4.0	5.0	5.0					8																	144789882		654	1522	2176	SO:0001583	missense	0				CCDS55280.1	8q24.3	2011-06-20			ENSG00000255181	ENSG00000255181			41910	protein-coding gene	gene with protein product							Standard	NM_001162914		Approved		uc011lkr.2	P0CW27	OTTHUMG00000165148	ENST00000542437.1:c.398G>A	8.37:g.144789882C>T	ENSP00000437468:p.Arg133His			Missense_Mutation	SNP	NULL	p.R133H	ENST00000542437.1	37	c.398	CCDS55280.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.51|19.51	3.842068|3.842068	0.71488|0.71488	.|.	.|.	ENSG00000255181|ENSG00000255181	ENST00000533508|ENST00000542437	.|T	.|0.29655	.|1.56	4.2|4.2	4.2|4.2	0.49525|0.49525	.|.	.|.	.|.	.|.	.|.	T|T	0.25382|0.25382	0.0617|0.0617	N|N	0.19112|0.19112	0.55|0.55	0.21579|0.21579	N|N	0.999636|0.999636	.|D	.|0.55172	.|0.97	.|P	.|0.47827	.|0.558	T|T	0.04991|0.04991	-1.0913|-1.0913	5|9	.|0.44086	.|T	.|0.13	.|.	9.9182|9.9182	0.41448|0.41448	0.0:0.8982:0.0:0.1018|0.0:0.8982:0.0:0.1018	.|.	.|133	.|P0CW27	.|CC166_HUMAN	T|H	115|133	.|ENSP00000437468:R133H	.|ENSP00000437468:R133H	A|R	-|-	1|2	0|0	CCDC166|CCDC166	144861870|144861870	0.958000|0.958000	0.32768|0.32768	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	1.588000|1.588000	0.36633|0.36633	2.165000|2.165000	0.68154|0.68154	0.556000|0.556000	0.70494|0.70494	GCG|CGC	CCDC166	-	NULL	ENSG00000255181		0.736	CCDC166-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC166	HGNC	protein_coding		-	0.00	10	0	C	NM_001162914		144789882	-1	tier1	-	no_errors	ENST00000542437	ensembl	human	known	74_37	missense	33.33	8	4	SNP	1.000	T
CCDC28A	25901	genome.wustl.edu	37	6	139094843	139094843	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:139094843G>T	ENST00000332797.6	+	1	187	c.32G>T	c.(31-33)gGg>gTg	p.G11V		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	11										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GCGACACTGGGGGAGCAGGAA	0.602																																																	0													84.0	99.0	94.0					6																	139094843		2203	4300	6503	SO:0001583	missense	0			AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.32G>T	6.37:g.139094843G>T	ENSP00000332716:p.Gly11Val		E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	NULL	p.G11V	ENST00000332797.6	37	c.32	CCDS5192.1	6	.	.	.	.	.	.	.	.	.	.	G	6.565	0.472634	0.12461	.	.	ENSG00000024862	ENST00000332797	T	0.27402	1.67	5.2	-10.4	0.00318	.	3.764050	0.01445	N	0.015264	T	0.01976	0.0062	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	10	0.33940	T	0.23	.	1.3082	0.02092	0.2873:0.2284:0.3268:0.1575	.	11	Q8IWP9	CC28A_HUMAN	V	11	ENSP00000332716:G11V	ENSP00000332716:G11V	G	+	2	0	CCDC28A	139136536	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.718000	0.00384	-3.248000	0.00205	-0.150000	0.13652	GGG	CCDC28A	-	NULL	ENSG00000024862		0.602	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28A	HGNC	protein_coding	OTTHUMT00000042444.1	-	0.00	158	0	G	NM_015439		139094843	+1	tier1	-	no_errors	ENST00000332797	ensembl	human	known	74_37	missense	12.74	136	20	SNP	0.000	T
CCDC39	339829	genome.wustl.edu	37	3	180334382	180334382	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:180334382T>G	ENST00000442201.2	-	18	2627	c.2508A>C	c.(2506-2508)aaA>aaC	p.K836N	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	836					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CATCAATAACTTTGTGAAACT	0.323																																																	0													67.0	61.0	63.0					3																	180334382		1832	4067	5899	SO:0001583	missense	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2508A>C	3.37:g.180334382T>G	ENSP00000405708:p.Lys836Asn		B4E2H1	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K836N	ENST00000442201.2	37	c.2508	CCDS46964.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.35|13.35	2.211420|2.211420	0.39102|0.39102	.|.	.|.	ENSG00000145075|ENSG00000145075	ENST00000489868;ENST00000442201|ENST00000473854	T|.	0.79247|.	-1.25|.	5.24|5.24	2.47|2.47	0.30058|0.30058	.|.	.|.	.|.	.|.	.|.	T|T	0.65080|0.65080	0.2657|0.2657	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D|.	0.58268|.	0.982|.	P|.	0.56751|.	0.805|.	T|T	0.65340|0.65340	-0.6192|-0.6192	9|6	0.52906|0.72032	T|D	0.07|0.01	.|.	6.9531|6.9531	0.24556|0.24556	0.0:0.5448:0.0:0.4552|0.0:0.5448:0.0:0.4552	.|.	836|.	Q9UFE4|.	CCD39_HUMAN|.	N|T	8;836|20	ENSP00000405708:K836N|.	ENSP00000405708:K836N|ENSP00000418482:K20T	K|K	-|-	3|2	2|0	CCDC39|CCDC39	181817076|181817076	0.235000|0.235000	0.23794|0.23794	0.998000|0.998000	0.56505|0.56505	0.717000|0.717000	0.41224|0.41224	0.620000|0.620000	0.24403|0.24403	0.792000|0.792000	0.33850|0.33850	-0.408000|-0.408000	0.06270|0.06270	AAA|AAG	CCDC39	-	NULL	ENSG00000145075		0.323	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	-	0.00	43	0	T	XM_291028		180334382	-1	tier1	-	no_errors	ENST00000442201	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.988	G
CCDC42	146849	genome.wustl.edu	37	17	8638451	8638451	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:8638451T>C	ENST00000293845.3	-	6	1062	c.836A>G	c.(835-837)gAg>gGg	p.E279G	CCDC42_ENST00000539522.2_Missense_Mutation_p.E205G	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	279								p.E279V(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CAGTGCCACCTCAGTCACCTC	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											108.0	90.0	96.0					17																	8638451		2203	4300	6503	SO:0001583	missense	0			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.836A>G	17.37:g.8638451T>C	ENSP00000293845:p.Glu279Gly		Q8N6Q0	Missense_Mutation	SNP	NULL	p.E279G	ENST00000293845.3	37	c.836	CCDS11145.1	17	.	.	.	.	.	.	.	.	.	.	T	0.895	-0.724117	0.03158	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.23950	1.88;1.89	5.11	-10.2	0.00374	.	3.909620	0.00575	N	0.000317	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.19549	-1.0302	10	0.23891	T	0.37	2.4966	1.4548	0.02383	0.176:0.3008:0.2736:0.2496	.	279	Q96M95	CCD42_HUMAN	G	279;205	ENSP00000293845:E279G;ENSP00000444359:E205G	ENSP00000293845:E279G	E	-	2	0	CCDC42	8579176	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.023000	0.01438	-2.660000	0.00419	-1.276000	0.01395	GAG	CCDC42	-	NULL	ENSG00000161973		0.617	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42	HGNC	protein_coding	OTTHUMT00000442491.1		0.00	43	0	T	NM_144681		8638451	-1			no_errors	ENST00000293845	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.000	C
CCDC73	493860	genome.wustl.edu	37	11	32675522	32675522	+	Splice_Site	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:32675522A>G	ENST00000335185.5	-	11	878		c.e11+1		CCDC73_ENST00000534415.1_Splice_Site	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATGATTGCTTACCTGTTTTTC	0.269																																																	0													77.0	72.0	73.0					11																	32675522		1791	4049	5840	SO:0001630	splice_region_variant	0			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.834+1T>C	11.37:g.32675522A>G			Q6P5Q7|Q6ZMW0|Q86WE7	Splice_Site	SNP	-	e10+2	ENST00000335185.5	37	c.834+2	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869222	0.32977	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.94	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2163	0.20658	0.8672:0.0:0.1328:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC73	32632098	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	2.194000	0.42668	1.181000	0.42912	0.528000	0.53228	.	CCDC73	-	-	ENSG00000186714		0.269	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	-	0.00	73	0	A	NM_001008391	Intron	32675522	-1	tier1	-	no_errors	ENST00000335185	ensembl	human	known	74_37	splice_site	19.28	67	16	SNP	1.000	G
CCDC87	55231	genome.wustl.edu	37	11	66359522	66359522	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66359522G>A	ENST00000333861.3	-	1	1032	c.965C>T	c.(964-966)gCa>gTa	p.A322V	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	322					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAACTCATCTGCCAGCCTCCA	0.637																																																	0													33.0	39.0	37.0					11																	66359522		2198	4294	6492	SO:0001583	missense	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.965C>T	11.37:g.66359522G>A	ENSP00000328487:p.Ala322Val		Q8NE76	Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.A322V	ENST00000333861.3	37	c.965	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640150	0.87760	.	.	ENSG00000182791	ENST00000333861	T	0.30981	1.51	5.12	5.12	0.69794	.	0.169897	0.28230	N	0.016111	T	0.50990	0.1648	M	0.67953	2.075	0.36299	D	0.8569	D	0.76494	0.999	D	0.67103	0.949	T	0.56998	-0.7886	10	0.42905	T	0.14	.	13.9383	0.64039	0.0:0.0:1.0:0.0	.	322	Q9NVE4	CCD87_HUMAN	V	322	ENSP00000328487:A322V	ENSP00000328487:A322V	A	-	2	0	CCDC87	66116098	0.421000	0.25465	0.998000	0.56505	0.969000	0.65631	2.521000	0.45563	2.664000	0.90586	0.514000	0.50259	GCA	CCDC87	-	NULL	ENSG00000182791		0.637	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	-	0.00	32	0	G	NM_018219		66359522	-1	tier1	-	no_errors	ENST00000333861	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.998	A
CCDC91	55297	genome.wustl.edu	37	12	28412316	28412316	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:28412316G>A	ENST00000545336.1	+	6	469	c.50G>A	c.(49-51)gGt>gAt	p.G17D	CCDC91_ENST00000381259.1_Missense_Mutation_p.G17D|CCDC91_ENST00000539107.1_Missense_Mutation_p.G17D|CCDC91_ENST00000381256.1_Missense_Mutation_p.G17D			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	17					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ACTTTTGATGGTGGAAGTGGT	0.388																																																	0													144.0	126.0	132.0					12																	28412316		2203	4300	6503	SO:0001583	missense	0			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.50G>A	12.37:g.28412316G>A	ENSP00000438040:p.Gly17Asp		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	NULL	p.G17D	ENST00000545336.1	37	c.50	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808181	0.31961	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256	T;T;T;T;T;T	0.32272	1.46;1.48;1.47;1.48;1.47;1.46	5.57	1.43	0.22495	.	0.587019	0.16235	N	0.223394	T	0.14743	0.0356	N	0.19112	0.55	0.58432	D	0.999997	B	0.02656	0.0	B	0.06405	0.002	T	0.11991	-1.0565	10	0.30854	T	0.27	-2.5856	1.817	0.03102	0.2477:0.1346:0.4795:0.1383	.	17	Q7Z6B0	CCD91_HUMAN	D	17	ENSP00000440513:G17D;ENSP00000445660:G17D;ENSP00000438040:G17D;ENSP00000442544:G17D;ENSP00000370658:G17D;ENSP00000370655:G17D	ENSP00000370655:G17D	G	+	2	0	CCDC91	28303583	0.995000	0.38212	0.980000	0.43619	0.951000	0.60555	0.247000	0.18179	0.261000	0.21753	0.655000	0.94253	GGT	CCDC91	-	NULL	ENSG00000123106		0.388	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	-	0.00	90	0	G	NM_018318		28412316	+1	tier1	-	no_errors	ENST00000381259	ensembl	human	known	74_37	missense	8.14	79	7	SNP	0.916	A
CCDC92	80212	genome.wustl.edu	37	12	124422150	124422150	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:124422150G>A	ENST00000238156.3	-	5	805	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.R134W|CCDC92_ENST00000545135.1_Missense_Mutation_p.R134W	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	151						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GTGCTGGCCCGCTGCTCCAGC	0.617																																																	0													130.0	109.0	116.0					12																	124422150		2203	4300	6503	SO:0001583	missense	0			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.451C>T	12.37:g.124422150G>A	ENSP00000238156:p.Arg151Trp		B3KNQ0|Q9H697	Missense_Mutation	SNP	NULL	p.R151W	ENST00000238156.3	37	c.451	CCDS9256.1	12	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432965	0.62844	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.33865	1.39;1.41;1.41	5.56	5.56	0.83823	.	0.097811	0.64402	D	0.000002	T	0.62417	0.2426	M	0.82517	2.595	0.50313	D	0.99986	D	0.89917	1.0	D	0.77004	0.989	T	0.66810	-0.5829	10	0.72032	D	0.01	-2.757	13.5351	0.61643	0.0:0.0:0.7394:0.2606	.	151	Q53HC0	CCD92_HUMAN	W	151;134;134	ENSP00000238156:R151W;ENSP00000439526:R134W;ENSP00000440024:R134W	ENSP00000238156:R151W	R	-	1	2	CCDC92	122988103	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	2.733000	0.47360	2.615000	0.88500	0.555000	0.69702	CGG	CCDC92	-	NULL	ENSG00000119242		0.617	CCDC92-001	KNOWN	basic|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000400780.2		0.00	39	0	G	NM_025140		124422150	-1			no_errors	ENST00000238156	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A
CCKAR	886	genome.wustl.edu	37	4	26490891	26490891	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:26490891C>T	ENST00000295589.3	-	2	522	c.328G>A	c.(328-330)Ggg>Agg	p.G110R		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	110					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ACGGCGCTCCCGAAGATGAAA	0.557																																																	0													159.0	145.0	150.0					4																	26490891		2203	4300	6503	SO:0001583	missense	0			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.328G>A	4.37:g.26490891C>T	ENSP00000295589:p.Gly110Arg		B2R9Z5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt	p.G110R	ENST00000295589.3	37	c.328	CCDS3438.1	4	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569207	0.86439	.	.	ENSG00000163394	ENST00000295589	T	0.50548	0.74	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82472	0.5044	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90099	0.4183	10	0.87932	D	0	.	18.8514	0.92232	0.0:1.0:0.0:0.0	.	110	P32238	CCKAR_HUMAN	R	110	ENSP00000295589:G110R	ENSP00000295589:G110R	G	-	1	0	CCKAR	26099989	1.000000	0.71417	0.917000	0.36280	0.690000	0.40134	7.487000	0.81328	2.445000	0.82738	0.561000	0.74099	GGG	CCKAR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt,prints_Gastrin_rcpt	ENSG00000163394		0.557	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKAR	HGNC	protein_coding	OTTHUMT00000250418.2	-	0.00	30	0	C			26490891	-1	tier1	-	no_errors	ENST00000295589	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	T
CCKBR	887	genome.wustl.edu	37	11	6292451	6292451	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6292451delT	ENST00000334619.2	+	5	1215	c.1022delT	c.(1021-1023)cttfs	p.L341fs	CCKBR_ENST00000532715.1_Frame_Shift_Del_p.L257fs|CCKBR_ENST00000525462.1_Frame_Shift_Del_p.L410fs	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	341					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ATCGTTGTGCTTTTTTTTCTG	0.612																																																	0													207.0	164.0	179.0					11																	6292451		2201	4296	6497	SO:0001589	frameshift_variant	0			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.1022delT	11.37:g.6292451delT	ENSP00000335544:p.Leu341fs		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L413fs	ENST00000334619.2	37	c.1229	CCDS7761.1	11																																																																																			CCKBR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000110148		0.612	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2		0.00	15	0	T	NM_176875		6292451	+1	tier1		no_errors	ENST00000525462	ensembl	human	known	74_37	frame_shift_del	61.54	5	8	DEL	0.995	-
CCNB3	85417	genome.wustl.edu	37	X	50052616	50052616	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:50052616delC	ENST00000376042.1	+	6	1745	c.1447delC	c.(1447-1449)cccfs	p.P484fs	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Frame_Shift_Del_p.P484fs			Q8WWL7	CCNB3_HUMAN	cyclin B3	484					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGAGGAGGCACCCCCCACCAA	0.463																																																	0													41.0	40.0	40.0					X																	50052616		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1447delC	X.37:g.50052616delC	ENSP00000365210:p.Pro484fs		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Frame_Shift_Del	DEL	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	p.T485fs	ENST00000376042.1	37	c.1447	CCDS14331.1	X																																																																																			CCNB3	-	NULL	ENSG00000147082		0.463	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1		0.00	49	0	C			50052616	+1	tier1		no_errors	ENST00000276014	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.000	-
CCNC	892	genome.wustl.edu	37	6	100006296	100006296	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:100006296delA	ENST00000520429.1	-	5	792				CCNC_ENST00000482541.2_Frame_Shift_Del_p.F141fs|CCNC_ENST00000518714.1_Intron|CCNC_ENST00000523799.1_Intron|CCNC_ENST00000521017.1_Intron|CCNC_ENST00000369220.4_Intron|CCNC_ENST00000523985.1_Intron|CCNC_ENST00000520371.1_Intron	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C						gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		CTCATAAACTAAAAAAAAAAA	0.299																																					GBM(57;273 1020 40094 44454 49348)												0																																										SO:0001627	intron_variant	0				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.346+76T>-	6.37:g.100006296delA			B4DPZ1|Q9H543	Frame_Shift_Del	DEL	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.F141fs	ENST00000520429.1	37	c.423	CCDS34502.1	6																																																																																			CCNC	-	superfamily_Cyclin-like	ENSG00000112237		0.299	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2		0.00	37	0	A	NM_005190		100006296	-1	tier1		no_errors	ENST00000482541	ensembl	human	putative	74_37	frame_shift_del	17.39	38	8	DEL	0.007	-
CCND1	595	genome.wustl.edu	37	11	69466017	69466017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:69466017C>A	ENST00000227507.2	+	5	1082	c.855C>A	c.(853-855)tgC>tgA	p.C285*	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	285					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	aCCTGGCTTGCACACCCACCG	0.716			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)			Dom	yes		11	11q13	595	cyclin D1		"""L, E"""	0													25.0	20.0	21.0					11																	69466017		2199	4292	6491	SO:0001587	stop_gained	0			Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.855C>A	11.37:g.69466017C>A	ENSP00000227507:p.Cys285*		Q6LEF0	Nonsense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.C285*	ENST00000227507.2	37	c.855	CCDS8191.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.339333	0.98221	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	.	.	.	5.45	5.45	0.79879	.	0.045574	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	19.2805	0.94051	0.0:1.0:0.0:0.0	.	.	.	.	X	285;151	.	ENSP00000227507:C285X	C	+	3	2	CCND1	69175198	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.287000	0.59001	2.554000	0.86153	0.561000	0.74099	TGC	CCND1	-	NULL	ENSG00000110092		0.716	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND1	HGNC	protein_coding	OTTHUMT00000396775.2		0.00	38	0	C	NM_053056		69466017	+1			no_errors	ENST00000227507	ensembl	human	known	74_37	nonsense	8.82	31	3	SNP	1.000	A
CCNF	899	genome.wustl.edu	37	16	2487250	2487250	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2487250C>T	ENST00000397066.4	+	5	555	c.467C>T	c.(466-468)cCg>cTg	p.P156L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	156					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ATCCGCCCTCCGTGGTCGGTG	0.637																																																	0													55.0	49.0	51.0					16																	2487250		2198	4300	6498	SO:0001583	missense	0			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.467C>T	16.37:g.2487250C>T	ENSP00000380256:p.Pro156Leu		B2R8H3|Q96EG9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.P156L	ENST00000397066.4	37	c.467	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604414	0.87157	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.66638	-0.22	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84417	0.0569	10	0.87932	D	0	-39.6034	18.374	0.90430	0.0:1.0:0.0:0.0	.	156	P41002	CCNF_HUMAN	L	156;71	ENSP00000380256:P156L	ENSP00000293968:P71L	P	+	2	0	CCNF	2427251	1.000000	0.71417	0.433000	0.26760	0.465000	0.32709	7.603000	0.82811	2.689000	0.91719	0.655000	0.94253	CCG	CCNF	-	NULL	ENSG00000162063		0.637	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	-	0.00	36	0	C	NM_001761		2487250	+1	tier1	-	no_errors	ENST00000397066	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	T
CCNL2	81669	genome.wustl.edu	37	1	1326208	1326208	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1326208C>T	ENST00000400809.3	-	6	702	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	CCNL2_ENST00000408952.5_Missense_Mutation_p.V11M|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	233	Cyclin-like 2.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGGAACCGCACGAAGACGTCG	0.557																																																	0													83.0	84.0	83.0					1																	1326208		2203	4296	6499	SO:0001583	missense	0			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.697G>A	1.37:g.1326208C>T	ENSP00000383611:p.Val233Met		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.V233M	ENST00000400809.3	37	c.697	CCDS30557.1	1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171259	0.57584	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T;T	0.24350	1.86;1.86	5.84	5.84	0.93424	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.64402	D	0.000002	T	0.35364	0.0929	M	0.74881	2.28	0.80722	D	1	D	0.52996	0.957	B	0.42462	0.388	T	0.16837	-1.0389	10	0.38643	T	0.18	.	19.1261	0.93384	0.0:1.0:0.0:0.0	.	233	Q96S94	CCNL2_HUMAN	M	233;11	ENSP00000383611:V233M;ENSP00000386132:V11M	ENSP00000383611:V233M	V	-	1	0	CCNL2	1316071	1.000000	0.71417	0.997000	0.53966	0.452000	0.32318	5.657000	0.67996	2.779000	0.95612	0.655000	0.94253	GTG	CCNL2	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	ENSG00000221978		0.557	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	-	0.00	56	0	C	NM_030937		1326208	-1	tier1	-	no_errors	ENST00000400809	ensembl	human	known	74_37	missense	10.34	51	6	SNP	1.000	T
CCR4	1233	genome.wustl.edu	37	3	32995849	32995849	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:32995849G>A	ENST00000330953.5	+	2	1103	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	312					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GAGAAATTTCGCAAGTACATC	0.478																																																	0													64.0	68.0	67.0					3																	32995849		2203	4300	6503	SO:0001583	missense	0			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.935G>A	3.37:g.32995849G>A	ENSP00000332659:p.Arg312His		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.R312H	ENST00000330953.5	37	c.935	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068896	0.76301	.	.	ENSG00000183813	ENST00000330953	T	0.58358	0.34	5.73	5.73	0.89815	.	0.107611	0.39210	N	0.001435	T	0.71986	0.3405	M	0.84948	2.725	0.48288	D	0.999625	D	0.89917	1.0	D	0.64506	0.926	T	0.76187	-0.3051	10	0.87932	D	0	.	11.2774	0.49174	0.1148:0.0:0.8852:0.0	.	312	P51679	CCR4_HUMAN	H	312	ENSP00000332659:R312H	ENSP00000332659:R312H	R	+	2	0	CCR4	32970853	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.362000	0.59467	2.706000	0.92434	0.563000	0.77884	CGC	CCR4	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	ENSG00000183813		0.478	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	-	0.00	35	0	G			32995849	+1	tier1	-	no_errors	ENST00000330953	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A
CCR7	1236	genome.wustl.edu	37	17	38711212	38711212	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:38711212C>T	ENST00000246657.2	-	3	981	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	CCR7_ENST00000579344.1_Missense_Mutation_p.A301T	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	307					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ACGTCGTAGGCGATGTTGAGT	0.567																																																	0													243.0	189.0	208.0					17																	38711212		2203	4300	6503	SO:0001583	missense	0				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.919G>A	17.37:g.38711212C>T	ENSP00000246657:p.Ala307Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1	p.A307T	ENST00000246657.2	37	c.919	CCDS11369.1	17	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005909	0.93287	.	.	ENSG00000126353	ENST00000246657	T	0.52754	0.65	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.055479	0.64402	D	0.000001	T	0.63271	0.2497	M	0.77313	2.365	0.80722	D	1	D	0.55605	0.972	P	0.52189	0.692	T	0.61540	-0.7042	10	0.33940	T	0.23	.	19.8881	0.96917	0.0:1.0:0.0:0.0	.	307	P32248	CCR7_HUMAN	T	307	ENSP00000246657:A307T	ENSP00000246657:A307T	A	-	1	0	CCR7	35964738	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	7.818000	0.86416	2.708000	0.92522	0.555000	0.69702	GCC	CCR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_Chemokine_rcpt	ENSG00000126353		0.567	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR7	HGNC	protein_coding	OTTHUMT00000257222.1	-	0.00	41	0	C			38711212	-1	tier1	-	no_errors	ENST00000246657	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T
CCSER2	54462	genome.wustl.edu	37	10	86185510	86185510	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:86185510delT	ENST00000224756.8	+	5	1914	c.1729delT	c.(1729-1731)tttfs	p.F577fs	CCSER2_ENST00000543283.1_Frame_Shift_Del_p.F4fs|CCSER2_ENST00000372088.2_Frame_Shift_Del_p.F577fs|CCSER2_ENST00000494144.1_3'UTR	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	577					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TATGAACCGCTTTGACCGACC	0.443																																																	0													97.0	88.0	91.0					10																	86185510		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1729delT	10.37:g.86185510delT	ENSP00000224756:p.Phe577fs		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Frame_Shift_Del	DEL	NULL	p.F577fs	ENST00000224756.8	37	c.1729	CCDS31235.1	10																																																																																			CCSER2	-	NULL	ENSG00000107771		0.443	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	HGNC	protein_coding	OTTHUMT00000049132.2		0.00	50	0	T	NM_018999		86185510	+1	tier1		no_errors	ENST00000372088	ensembl	human	known	74_37	frame_shift_del	25.00	27	9	DEL	1.000	-
CCT5	22948	genome.wustl.edu	37	5	10256197	10256197	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:10256197C>T	ENST00000280326.4	+	4	882	c.462C>T	c.(460-462)agC>agT	p.S154S	CCT5_ENST00000515676.1_Silent_p.S116S|CCT5_ENST00000515390.1_Silent_p.S99S|CCT5_ENST00000503026.1_Silent_p.S133S|CCT5_ENST00000506600.1_Silent_p.S61S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	154					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TCAGCGATAGCGTCCTTGTTG	0.478																																																	0													96.0	74.0	82.0					5																	10256197		2203	4300	6503	SO:0001819	synonymous_variant	0			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.462C>T	5.37:g.10256197C>T			A8JZY8|A8K2X8|B4DYD8	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.S154	ENST00000280326.4	37	c.462	CCDS3877.1	5																																																																																			CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.478	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2		0.00	19	0	C			10256197	+1			no_errors	ENST00000280326	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.005	T
CD1D	912	genome.wustl.edu	37	1	158152021	158152021	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:158152021G>A	ENST00000368171.3	+	4	1027	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	176					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGGAAACAGTGCAGTGGCTCC	0.537																																																	0													167.0	168.0	167.0					1																	158152021		2203	4300	6503	SO:0001819	synonymous_variant	0			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.528G>A	1.37:g.158152021G>A			D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.V176	ENST00000368171.3	37	c.528	CCDS1173.1	1																																																																																			CD1D	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158473		0.537	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	HGNC	protein_coding	OTTHUMT00000058340.1	-	0.00	48	0	G	NM_001766		158152021	+1	tier1	-	no_errors	ENST00000368171	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.000	A
CD22	933	genome.wustl.edu	37	19	35823799	35823799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:35823799G>A	ENST00000085219.5	+	3	450	c.384G>A	c.(382-384)tgG>tgA	p.W128*	CD22_ENST00000595419.1_3'UTR|U62631.5_ENST00000597110.1_RNA|CD22_ENST00000270311.6_Nonsense_Mutation_p.W8*|CD22_ENST00000594250.1_Nonsense_Mutation_p.W128*|CD22_ENST00000536635.2_Nonsense_Mutation_p.W128*|CD22_ENST00000544992.2_Nonsense_Mutation_p.W128*|CD22_ENST00000341773.6_Nonsense_Mutation_p.W128*|CD22_ENST00000419549.2_De_novo_Start_OutOfFrame	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	128	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGAGAAATGGATGGAACGAA	0.552																																					Ovarian(42;1009 1133 23674 26041)												0													88.0	78.0	81.0					19																	35823799		2203	4300	6503	SO:0001587	stop_gained	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.384G>A	19.37:g.35823799G>A	ENSP00000085219:p.Trp128*		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Nonsense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W128*	ENST00000085219.5	37	c.384	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049863	0.75846	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311	.	.	.	5.26	5.26	0.73747	.	0.000000	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.3709	0.66838	0.0:0.0:1.0:0.0	.	.	.	.	X	128;128;128;128;8	.	ENSP00000085219:W128X	W	+	3	0	CD22	40515639	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	4.489000	0.60309	2.459000	0.83118	0.563000	0.77884	TGG	CD22	-	smart_Ig_sub	ENSG00000012124		0.552	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	-	0.00	34	0	G	NM_001771		35823799	+1	tier1	-	no_errors	ENST00000085219	ensembl	human	known	74_37	nonsense	25.00	27	9	SNP	1.000	A
CD22	933	genome.wustl.edu	37	19	35832639	35832639	+	Frame_Shift_Del	DEL	G	G	-	rs138249765		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:35832639delG	ENST00000085219.5	+	9	1872	c.1806delG	c.(1804-1806)ccgfs	p.P602fs	CD22_ENST00000270311.6_Frame_Shift_Del_p.P482fs|CD22_ENST00000594250.1_Frame_Shift_Del_p.P425fs|CD22_ENST00000536635.2_Frame_Shift_Del_p.P514fs|CD22_ENST00000544992.2_Frame_Shift_Del_p.P602fs|CD22_ENST00000341773.6_Frame_Shift_Del_p.P425fs|CD22_ENST00000419549.2_Frame_Shift_Del_p.P430fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	602	Ig-like C2-type 6.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCATGAGCCCGGGGGACCAAG	0.622																																					Ovarian(42;1009 1133 23674 26041)												0													98.0	79.0	86.0					19																	35832639		2203	4300	6503	SO:0001589	frameshift_variant	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1806delG	19.37:g.35832639delG	ENSP00000085219:p.Pro602fs		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Frame_Shift_Del	DEL	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D604fs	ENST00000085219.5	37	c.1806	CCDS12457.1	19																																																																																			CD22	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000012124		0.622	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1		0.00	42	0	G	NM_001771		35832639	+1	tier1		no_errors	ENST00000085219	ensembl	human	known	74_37	frame_shift_del	60.47	17	26	DEL	0.000	-
CD247	919	genome.wustl.edu	37	1	167404320	167404321	+	Intron	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:167404320_167404321insT	ENST00000362089.5	-	5	409				CD247_ENST00000392122.3_Intron|CD247_ENST00000483825.1_5'UTR			P20963	CD3Z_HUMAN	CD247 molecule						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	ctccggagccctcctccagccc	0.698																																					Ovarian(192;1815 2869 36877 43334)												0																																										SO:0001627	intron_variant	0			BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.336+314->A	1.37:g.167404321_167404321dupT			B1AK49|Q5VX13|Q8TAX4	RNA	INS	-	NULL	ENST00000362089.5	37	NULL	CCDS1261.1	1																																																																																			CD247	-	-	ENSG00000198821		0.698	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD247	HGNC	protein_coding	OTTHUMT00000083707.1		0.00	17	0	-	NM_198053		167404321	-1	tier1		no_errors	ENST00000483825	ensembl	human	known	74_37	rna	22.22	7	2	INS	0.000:0.000	T
CD247	919	genome.wustl.edu	37	1	167408611	167408611	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:167408611C>T	ENST00000362089.5	-	3	261	c.189G>A	c.(187-189)gcG>gcA	p.A63A	CD247_ENST00000392122.3_Silent_p.A63A|CD247_ENST00000483825.1_5'UTR			P20963	CD3Z_HUMAN	CD247 molecule	63	ITAM 1. {ECO:0000255|PROSITE- ProRule:PRU00379}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	CCTGCTGGTACGCGGGGGCGT	0.672																																					Ovarian(192;1815 2869 36877 43334)												0													73.0	71.0	72.0					1																	167408611		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.189G>A	1.37:g.167408611C>T			B1AK49|Q5VX13|Q8TAX4	Silent	SNP	pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.A63	ENST00000362089.5	37	c.189	CCDS1261.1	1																																																																																			CD247	-	pfscan_Phos_immunorcpt_sig_ITAM	ENSG00000198821		0.672	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD247	HGNC	protein_coding	OTTHUMT00000083707.1	-	0.00	71	0	C	NM_198053		167408611	-1	tier1	-	no_errors	ENST00000362089	ensembl	human	known	74_37	silent	22.37	59	17	SNP	0.000	T
CD34	947	genome.wustl.edu	37	1	208062085	208062085	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:208062085C>T	ENST00000310833.7	-	7	1235	c.914G>A	c.(913-915)gGc>gAc	p.G305D	CD34_ENST00000356522.4_Missense_Mutation_p.G305D|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.G170D|CD34_ENST00000367036.3_Missense_Mutation_p.G147D	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	305					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GCCAGTGATGCCCAAGACAGC	0.537																																																	0													194.0	210.0	204.0					1																	208062085		2203	4300	6503	SO:0001583	missense	0			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.914G>A	1.37:g.208062085C>T	ENSP00000310036:p.Gly305Asp		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,prints_CD34	p.G305D	ENST00000310833.7	37	c.914	CCDS31011.1	1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427109	0.62733	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.54	3.62	0.41486	.	0.414945	0.25461	N	0.030518	T	0.45617	0.1351	M	0.67953	2.075	0.39910	D	0.974019	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.987;0.996;0.989;0.987	T	0.43940	-0.9360	10	0.51188	T	0.08	-6.1373	10.0574	0.42252	0.2009:0.7991:0.0:0.0	.	170;305;305;147	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	D	305;305;147;170;275	ENSP00000310036:G305D;ENSP00000348916:G305D;ENSP00000356003:G147D;ENSP00000442874:G170D	ENSP00000310036:G305D	G	-	2	0	CD34	206128708	0.979000	0.34478	0.864000	0.33941	0.667000	0.39255	2.526000	0.45607	1.257000	0.44085	0.650000	0.86243	GGC	CD34	-	pfam_CD34/Podocalyxin	ENSG00000174059		0.537	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1	-	0.00	51	0	C	NM_001773		208062085	-1	tier1	-	no_errors	ENST00000310833	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.923	T
CD36	948	genome.wustl.edu	37	7	80303352	80303352	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:80303352delA	ENST00000435819.1	+	17	1992	c.1308delA	c.(1306-1308)ggafs	p.G436fs	CD36_ENST00000447544.2_Frame_Shift_Del_p.G436fs|CD36_ENST00000534394.1_Frame_Shift_Del_p.G360fs|CD36_ENST00000394788.3_Frame_Shift_Del_p.G436fs|CD36_ENST00000433696.2_Frame_Shift_Del_p.G397fs|CD36_ENST00000432207.1_Frame_Shift_Del_p.G436fs|CD36_ENST00000538969.1_Frame_Shift_Del_p.G376fs|CD36_ENST00000309881.7_Frame_Shift_Del_p.G436fs|CD36_ENST00000544133.1_3'UTR			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	436					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AAGTAACTGGAAAAATAAACC	0.363																																																	0													137.0	135.0	136.0					7																	80303352		2202	4300	6502	SO:0001589	frameshift_variant	0			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1308delA	7.37:g.80303352delA	ENSP00000399421:p.Gly436fs		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Frame_Shift_Del	DEL	pfam_CD36,prints_CD36_antigen,prints_CD36	p.I438fs	ENST00000435819.1	37	c.1308	CCDS34673.1	7																																																																																			CD36	-	pfam_CD36,prints_CD36_antigen	ENSG00000135218		0.363	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6		0.00	103	0	A	NM_001001547		80303352	+1	tier1		no_errors	ENST00000309881	ensembl	human	known	74_37	frame_shift_del	14.12	73	12	DEL	0.986	-
CD93	22918	genome.wustl.edu	37	20	23064944	23064944	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:23064944G>A	ENST00000246006.4	-	1	2033	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	629					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGAACCCAGGAGTAACTGTC	0.627																																																	0													129.0	130.0	130.0					20																	23064944		2203	4300	6503	SO:0001583	missense	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1886C>T	20.37:g.23064944G>A	ENSP00000246006:p.Ser629Phe		O00274	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.S629F	ENST00000246006.4	37	c.1886	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028025	0.54790	.	.	ENSG00000125810	ENST00000246006	D	0.82526	-1.62	6.03	6.03	0.97812	.	0.213650	0.33419	N	0.004922	D	0.85474	0.5705	L	0.53249	1.67	0.35696	D	0.815223	D	0.54397	0.966	P	0.52710	0.707	D	0.89301	0.3626	10	0.72032	D	0.01	-35.8053	14.3758	0.66874	0.0:0.2426:0.7574:0.0	.	629	Q9NPY3	C1QR1_HUMAN	F	629	ENSP00000246006:S629F	ENSP00000246006:S629F	S	-	2	0	CD93	23012944	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	2.845000	0.48254	2.880000	0.98712	0.650000	0.86243	TCC	CD93	-	NULL	ENSG00000125810		0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0.00	41	0	G	NM_012072		23064944	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	A
CDC42BPG	55561	genome.wustl.edu	37	11	64599932	64599932	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64599932C>A	ENST00000342711.5	-	27	3054	c.3055G>T	c.(3055-3057)Gcc>Tcc	p.A1019S	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTGGATTGGGCATGGATAACA	0.607																																																	0													69.0	72.0	71.0					11																	64599932		2201	4297	6498	SO:0001583	missense	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3055G>T	11.37:g.64599932C>A	ENSP00000345133:p.Ala1019Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.A1019S	ENST00000342711.5	37	c.3055	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368238	0.61513	.	.	ENSG00000171219	ENST00000342711	T	0.78481	-1.18	4.06	4.06	0.47325	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.42294	D	0.000729	D	0.87641	0.6228	M	0.80422	2.495	0.50171	D	0.999858	D	0.76494	0.999	D	0.83275	0.996	D	0.89449	0.3729	10	0.87932	D	0	.	14.1547	0.65410	0.0:1.0:0.0:0.0	.	1019	Q6DT37	MRCKG_HUMAN	S	1019	ENSP00000345133:A1019S	ENSP00000345133:A1019S	A	-	1	0	CDC42BPG	64356508	1.000000	0.71417	0.962000	0.40283	0.072000	0.16883	6.829000	0.75314	2.277000	0.76020	0.655000	0.94253	GCC	CDC42BPG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000171219		0.607	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	-	0.00	58	0	C	XM_290516		64599932	-1	tier1	-	no_errors	ENST00000342711	ensembl	human	known	74_37	missense	9.38	58	6	SNP	1.000	A
CDC42BPG	55561	genome.wustl.edu	37	11	64606221	64606221	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64606221G>A	ENST00000342711.5	-	8	1029	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTCGCCAGCCGCTCCCAGTCC	0.622																																																	0													54.0	54.0	54.0					11																	64606221		2200	4296	6496	SO:0001583	missense	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1030C>T	11.37:g.64606221G>A	ENSP00000345133:p.Arg344Trp			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R344W	ENST00000342711.5	37	c.1030	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554062	0.45487	.	.	ENSG00000171219	ENST00000342711	T	0.25250	1.81	4.72	1.59	0.23543	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.570128	0.15532	N	0.257433	T	0.29850	0.0746	M	0.65320	2	0.28367	N	0.92019	D	0.62365	0.991	P	0.47528	0.549	T	0.17349	-1.0372	10	0.87932	D	0	.	8.0109	0.30353	0.0:0.1446:0.3826:0.4727	.	344	Q6DT37	MRCKG_HUMAN	W	344	ENSP00000345133:R344W	ENSP00000345133:R344W	R	-	1	2	CDC42BPG	64362797	0.010000	0.17322	0.934000	0.37439	0.290000	0.27261	0.995000	0.29706	0.116000	0.18110	0.561000	0.74099	CGG	CDC42BPG	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000171219		0.622	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	-	0.00	36	0	G	XM_290516		64606221	-1	tier1	-	no_errors	ENST00000342711	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.994	A
CDCA7L	55536	genome.wustl.edu	37	7	21947897	21947897	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:21947897delT	ENST00000406877.3	-	4	811	c.532delA	c.(532-534)acafs	p.T178fs	CDCA7L_ENST00000373934.4_Frame_Shift_Del_p.T132fs|CDCA7L_ENST00000356195.5_Frame_Shift_Del_p.T144fs|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	178					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCAAGAATTGTTTTTTTCTCA	0.443																																																	0													87.0	80.0	82.0					7																	21947897		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.532delA	7.37:g.21947897delT	ENSP00000383986:p.Thr178fs		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Frame_Shift_Del	DEL	pfam_Znf-4CXXC_R1	p.T178fs	ENST00000406877.3	37	c.532	CCDS5374.1	7																																																																																			CDCA7L	-	NULL	ENSG00000164649		0.443	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4		0.00	44	0	T	NM_018719		21947897	-1	tier1		no_errors	ENST00000406877	ensembl	human	known	74_37	frame_shift_del	15.69	43	8	DEL	0.000	-
CDH11	1009	genome.wustl.edu	37	16	65038589	65038589	+	Missense_Mutation	SNP	C	C	T	rs556647809		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:65038589C>T	ENST00000268603.4	-	3	799	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000394156.3_Missense_Mutation_p.V62M	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCCTCTATCACGAAGAACTGG	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													62.0	48.0	53.0					16																	65038589		2202	4300	6502	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.184G>A	16.37:g.65038589C>T	ENSP00000268603:p.Val62Met		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V62M	ENST00000268603.4	37	c.184	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623522	0.87460	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.00527	6.79;6.79	5.62	5.62	0.85841	Cadherin-like (1);	0.058930	0.64402	D	0.000002	T	0.02970	0.0088	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.918;1.0	T	0.23440	-1.0188	10	0.87932	D	0	.	18.6407	0.91394	0.0:1.0:0.0:0.0	.	62;62	P55287-2;P55287	.;CAD11_HUMAN	M	62	ENSP00000268603:V62M;ENSP00000377711:V62M	ENSP00000268603:V62M	V	-	1	0	CDH11	63596090	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	4.620000	0.61226	2.662000	0.90505	0.591000	0.81541	GTG	CDH11	-	superfamily_Cadherin-like	ENSG00000140937		0.612	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0.00	53	0	C	NM_033664		65038589	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	11.11	56	7	SNP	1.000	T
CDH18	1016	genome.wustl.edu	37	5	19473140	19473141	+	3'UTR	DEL	TT	TT	-	rs77843093|rs34972691|rs560217404	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:19473140_19473141delTT	ENST00000382275.1	-	0	3086_3087				CDH18_ENST00000510297.1_5'UTR	NM_001167667.1|NM_004934.3	NP_001161139.1|NP_004925.1	Q13634	CAD18_HUMAN	cadherin 18, type 2						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ttgtattgtctttttttttttt	0.322																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000382275.1:c.*195AA>-	5.37:g.19473150_19473151delTT			A8K0I2|B4DHG6|Q8N5Z2	RNA	DEL	-	NULL	ENST00000382275.1	37	NULL	CCDS3889.1	5																																																																																			CDH18	-	-	ENSG00000145526		0.322	CDH18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000207117.1		0.00	9	0	TT	NM_004934		19473141	-1	tier1		no_errors	ENST00000510297	ensembl	human	known	74_37	rna	18.18	9	2	DEL	0.000:0.000	-
CDH18	1016	genome.wustl.edu	37	5	19483637	19483638	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:19483637_19483638insT	ENST00000507958.1	-	14	2644_2645	c.1654_1655insA	c.(1654-1656)aggfs	p.R552fs	CDH18_ENST00000502796.1_Intron|CDH18_ENST00000382275.1_Frame_Shift_Ins_p.R552fs|CDH18_ENST00000274170.4_Frame_Shift_Ins_p.R552fs|CDH18_ENST00000506372.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTCCTCCGCCTTGTCAGAATG	0.431																																																	0																																										SO:0001589	frameshift_variant	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1655dupA	5.37:g.19483639_19483639dupT	ENSP00000425093:p.Arg552fs		A8K0I2|B4DHG6|Q8N5Z2	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R552fs	ENST00000507958.1	37	c.1655_1654	CCDS3889.1	5																																																																																			CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000145526		0.431	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1		0.00	35	0	-	NM_004934		19483638	-1	tier1		no_errors	ENST00000274170	ensembl	human	known	74_37	frame_shift_ins	22.58	24	7	INS	1.000:1.000	T
CDH23	64072	genome.wustl.edu	37	10	73562688	73562688	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:73562688C>A	ENST00000224721.6	+	53	7536	c.7531C>A	c.(7531-7533)Cgg>Agg	p.R2511R	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.R266R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2506	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAATGACTGCCGGCCACAGTT	0.587																																																	0													56.0	58.0	57.0					10																	73562688		2039	4209	6248	SO:0001819	synonymous_variant	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7531C>A	10.37:g.73562688C>A			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R266	ENST00000224721.6	37	c.796		10																																																																																			CDH23	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	-	0.00	40	0	C	NM_052836		73562688	+1	tier1	-	no_errors	ENST00000398788	ensembl	human	known	74_37	silent	14.81	23	4	SNP	1.000	A
CDK10	8558	genome.wustl.edu	37	16	89758878	89758878	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:89758878G>A	ENST00000353379.7	+	6	482	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	CDK10_ENST00000331006.8_Missense_Mutation_p.V100M|CDK10_ENST00000505473.1_Missense_Mutation_p.V76M	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CGTGCTGCAGGTGCTCCGGGG	0.597																																																	0													88.0	78.0	81.0					16																	89758878		2198	4300	6498	SO:0001583	missense	0			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.439G>A	16.37:g.89758878G>A	ENSP00000338673:p.Val147Met		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V147M	ENST00000353379.7	37	c.439	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604590	0.46423	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.69926	-0.44;-0.44;-0.44	4.51	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.212057	0.40640	N	0.001060	T	0.59662	0.2210	N	0.16743	0.435	0.46260	D	0.99895	B;B;B;B;B;P	0.37548	0.372;0.146;0.242;0.071;0.071;0.599	B;B;B;B;B;P	0.45167	0.285;0.213;0.152;0.059;0.073;0.472	T	0.66524	-0.5902	10	0.66056	D	0.02	-37.0057	15.5464	0.76104	0.0:0.0:1.0:0.0	.	141;76;147;76;76;105	B7Z319;A8K370;Q15131;Q15131-3;Q15131-4;Q59EI2	.;.;CDK10_HUMAN;.;.;.	M	100;118;76;147	ENSP00000329957:V100M;ENSP00000424415:V76M;ENSP00000338673:V147M	ENSP00000329957:V100M	V	+	1	0	CDK10	88286379	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.535000	0.45685	2.333000	0.79357	0.491000	0.48974	GTG	CDK10	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000185324		0.597	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	-	0.00	63	0	G			89758878	+1	tier1	-	no_errors	ENST00000353379	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	A
CDK18	5129	genome.wustl.edu	37	1	205499346	205499346	+	3'UTR	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:205499346delC	ENST00000509056.1	+	0	2313				CDK18_ENST00000360066.2_Intron|CDK18_ENST00000506784.1_Intron|CDK18_ENST00000429964.2_Intron			Q07002	CDK18_HUMAN	cyclin-dependent kinase 18								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GGGTTTGCAGCCCCCCAGCCG	0.612																																					Pancreas(180;489 2072 28461 40831 44265)												0									,,	5,4261		0,5,2128	27.0	31.0	29.0		,,	0.6	0.0	1		29	11,8241		3,5,4118	no	intron,intron,intron	CDK18	NM_212503.2,NM_212502.2,NM_002596.3	,,	3,10,6246	A1A1,A1R,RR		0.1333,0.1172,0.1278	,,	,,	205499346	16,12502	2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000509056.1:c.*2310C>-	1.37:g.205499346delC			Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	RNA	DEL	-	NULL	ENST00000509056.1	37	NULL		1																																																																																			CDK18	-	-	ENSG00000117266		0.612	CDK18-016	KNOWN	basic	processed_transcript	CDK18	HGNC	protein_coding	OTTHUMT00000358281.1		0.00	67	0	C	NM_002596		205499346	+1	tier1		no_errors	ENST00000509056	ensembl	human	known	74_37	rna	14.10	67	11	DEL	0.000	-
CDKN2A	1029	genome.wustl.edu	37	9	21971023	21971023	+	Missense_Mutation	SNP	C	C	T	rs587782797		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:21971023C>T	ENST00000304494.5	-	2	605	c.335G>A	c.(334-336)cGt>cAt	p.R112H	CDKN2A_ENST00000479692.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000530628.2_Silent_p.P126P|CDKN2A_ENST00000361570.3_Silent_p.P167P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R112H|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000579755.1_Silent_p.P126P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R61H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	112			R -> RR (in CMM2). {ECO:0000269|PubMed:8653684}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.0(1)|p.R112P(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACGGGCAGACGGCCCCAGGC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1366	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(5)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(283)|skin(175)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											19.0	22.0	21.0					9																	21971023		2199	4296	6495	SO:0001583	missense	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.335G>A	9.37:g.21971023C>T	ENSP00000307101:p.Arg112His		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.R112H	ENST00000304494.5	37	c.335	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182017	0.78677	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.66460	-0.21;-0.21	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.74921	0.3780	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.68522	-0.5386	8	0.15952	T	0.53	-12.271	12.4538	0.55691	0.0:0.9227:0.0:0.0773	.	112	P42771	CD2A1_HUMAN	H	112	ENSP00000307101:R112H;ENSP00000394932:R112H	ENSP00000307101:R112H	R	-	2	0	CDKN2A	21961023	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.925000	0.40074	2.808000	0.96608	0.655000	0.94253	CGT	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0.00	54	0	C	NM_000077		21971023	-1	tier1	-	no_errors	ENST00000446177	ensembl	human	known	74_37	missense	14.29	42	7	SNP	1.000	T
CDO1	1036	genome.wustl.edu	37	5	115152083	115152083	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:115152083G>A	ENST00000250535.4	-	1	568	c.12C>T	c.(10-12)acC>acT	p.T4T	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	4					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	TCAGCACTTCGGTCTGTTCCA	0.642																																																	0													124.0	124.0	124.0					5																	115152083		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.12C>T	5.37:g.115152083G>A			B2RAK4|P78513|Q6FHZ8|Q8TB64	Silent	SNP	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.T4	ENST00000250535.4	37	c.12	CCDS4121.1	5																																																																																			CDO1	-	pfam_Cys_dOase_I	ENSG00000129596		0.642	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDO1	HGNC	protein_coding	OTTHUMT00000250853.2	-	0.00	19	0	G	NM_001801		115152083	-1	tier1	-	no_errors	ENST00000250535	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.980	A
CDRT15L2	256223	genome.wustl.edu	37	17	20483254	20483254	+	Silent	SNP	G	G	A	rs557578499		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:20483254G>A	ENST00000399044.1	+	1	218	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RP11-434D2.12_ENST00000580931.1_lincRNA	NM_001190790.1	NP_001177719.1	A8MXV6	CD15L_HUMAN	CMT1A duplicated region transcript 15-like 2	66						integral component of membrane (GO:0016021)				central_nervous_system(1)	1						AGATCCCATCGGGGCTGCCTC	0.637													.|||	1	0.000199681	0.0	0.0	5008	,	,		17916	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001819	synonymous_variant	0				CCDS54096.1	17p11.2	2008-10-30			ENSG00000214819	ENSG00000214819			34075	protein-coding gene	gene with protein product							Standard	NM_001190790		Approved		uc021tsn.1	A8MXV6	OTTHUMG00000059557	ENST00000399044.1:c.198G>A	17.37:g.20483254G>A				Silent	SNP	NULL	p.S66	ENST00000399044.1	37	c.198	CCDS54096.1	17																																																																																			CDRT15L2	-	NULL	ENSG00000214819		0.637	CDRT15L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDRT15L2	HGNC	protein_coding	OTTHUMT00000132432.3	-	0.00	82	0	G	XM_170840		20483254	+1	tier1	-	no_errors	ENST00000399044	ensembl	human	known	74_37	silent	21.33	59	16	SNP	0.001	A
PSORS1C1	170679	genome.wustl.edu	37	6	31084700	31084700	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31084700G>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Missense_Mutation_p.P231H	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CGAGACGATGGGCCCTCCACT	0.637																																																	0													50.0	54.0	53.0					6																	31084700		2203	4300	6503	SO:0001627	intron_variant	0			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+2032G>T	6.37:g.31084700G>T			B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	NULL	p.P231H	ENST00000259881.9	37	c.692	CCDS34390.1	6	.	.	.	.	.	.	.	.	.	.	G	8.940	0.965623	0.18583	.	.	ENSG00000204539	ENST00000376288	T	0.08807	3.05	4.12	4.12	0.48240	.	0.144833	0.32068	N	0.006637	T	0.10252	0.0251	L	0.34521	1.04	0.31610	N	0.65163	D	0.89917	1.0	D	0.87578	0.998	T	0.01232	-1.1411	10	0.87932	D	0	-17.5382	12.2158	0.54406	0.0:0.0:1.0:0.0	.	231	Q15517	CDSN_HUMAN	H	231	ENSP00000365465:P231H	ENSP00000365465:P231H	P	-	2	0	CDSN	31192679	0.454000	0.25728	0.476000	0.27291	0.023000	0.10783	2.060000	0.41394	2.017000	0.59298	0.448000	0.29417	CCC	CDSN	-	NULL	ENSG00000204539		0.637	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDSN	HGNC	protein_coding	OTTHUMT00000076110.3	-	0.00	55	0	G	NM_014068		31084700	-1	tier1	-	no_errors	ENST00000376288	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.891	T
CDT1	81620	genome.wustl.edu	37	16	88872230	88872230	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:88872230C>T	ENST00000301019.4	+	5	1404	c.785C>T	c.(784-786)aCc>aTc	p.T262I		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AAGGATGGCACCAGGAGGTCA	0.602																																					Melanoma(159;511 3380 30971)												0													42.0	44.0	44.0					16																	88872230		2195	4298	6493	SO:0001583	missense	0			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.785C>T	16.37:g.88872230C>T	ENSP00000301019:p.Thr262Ile			Missense_Mutation	SNP	pfam_CDT1_Gemini-bd-like	p.T262I	ENST00000301019.4	37	c.785	CCDS32510.1	16	.	.	.	.	.	.	.	.	.	.	C	1.414	-0.574600	0.03882	.	.	ENSG00000167513	ENST00000301019	T	0.23348	1.91	4.83	-0.605	0.11623	.	0.865536	0.10187	N	0.705131	T	0.10337	0.0253	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37150	-0.9718	10	0.20519	T	0.43	.	7.7847	0.29085	0.0:0.1384:0.42:0.4417	.	262	Q9H211	CDT1_HUMAN	I	262	ENSP00000301019:T262I	ENSP00000301019:T262I	T	+	2	0	CDT1	87399731	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.678000	0.25277	-0.078000	0.12730	-0.605000	0.04089	ACC	CDT1	-	pfam_CDT1_Gemini-bd-like	ENSG00000167513		0.602	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDT1	HGNC	protein_coding	OTTHUMT00000423215.1	-	0.00	46	0	C	NM_030928		88872230	+1	tier1	-	no_errors	ENST00000301019	ensembl	human	known	74_37	missense	14.58	41	7	SNP	0.000	T
CECR1	51816	genome.wustl.edu	37	22	17662461	17662461	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:17662461C>T	ENST00000399839.1	-	10	1718	c.1448G>A	c.(1447-1449)aGt>aAt	p.S483N	CECR1_ENST00000262607.3_Missense_Mutation_p.S483N|CECR1_ENST00000399837.2_Missense_Mutation_p.S483N|CECR1_ENST00000449907.2_Missense_Mutation_p.S441N|CECR1_ENST00000330232.4_Missense_Mutation_p.S242N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	483					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAACAGGGTACTGTACCTGCA	0.527																																																	0													144.0	144.0	144.0					22																	17662461		2203	4300	6503	SO:0001583	missense	0			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1448G>A	22.37:g.17662461C>T	ENSP00000382733:p.Ser483Asn		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.S483N	ENST00000399839.1	37	c.1448	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596033	0.46318	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73	3.53	3.53	0.40419	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.99020	0.9665	H	0.95151	3.63	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99364	1.0918	10	0.87932	D	0	.	14.065	0.64824	0.0:1.0:0.0:0.0	.	483;242	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	N	483;242;483;441;483	ENSP00000382733:S483N;ENSP00000332871:S242N;ENSP00000262607:S483N;ENSP00000406443:S441N;ENSP00000382731:S483N	ENSP00000262607:S483N	S	-	2	0	CECR1	16042461	0.998000	0.40836	0.138000	0.22173	0.012000	0.07955	5.099000	0.64554	1.503000	0.48686	0.591000	0.81541	AGT	CECR1	-	pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like	ENSG00000093072		0.527	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	-	0.00	38	0	C			17662461	-1	tier1	-	no_errors	ENST00000262607	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.995	T
CELSR3	1951	genome.wustl.edu	37	3	48679345	48679345	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:48679345delC	ENST00000164024.4	-	32	9043	c.8763delG	c.(8761-8763)gggfs	p.G2921fs	CELSR3_ENST00000544264.1_Frame_Shift_Del_p.G2926fs|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2921					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTTGGAAGCGCCCCCGCGTCC	0.632																																																	0													15.0	17.0	17.0					3																	48679345		2191	4289	6480	SO:0001589	frameshift_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8763delG	3.37:g.48679345delC	ENSP00000164024:p.Gly2921fs		O75092	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R2927fs	ENST00000164024.4	37	c.8778	CCDS2775.1	3																																																																																			CELSR3	-	NULL	ENSG00000008300		0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1		0.00	80	0	C	NM_001407		48679345	-1	tier1		no_errors	ENST00000544264	ensembl	human	known	74_37	frame_shift_del	12.86	61	9	DEL	0.997	-
CENPI	2491	genome.wustl.edu	37	X	100364892	100364892	+	Missense_Mutation	SNP	C	C	T	rs367921628		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:100364892C>T	ENST00000372927.1	+	5	773	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	CENPI_ENST00000423383.1_Missense_Mutation_p.R166C|CENPI_ENST00000372926.1_Missense_Mutation_p.R166C|CENPI_ENST00000218507.5_Missense_Mutation_p.R166C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	166					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						ACTTTTTTATCGTTGGCTGGT	0.408																																																	0								C	CYS/ARG	0,3833		0,0,0,1631,571	157.0	127.0	137.0		496	5.1	1.0	X		137	1,6727		0,0,1,2428,1871	no	missense	CENPI	NM_006733.2	180	0,0,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging	166/757	100364892	1,10560	2202	4300	6502	SO:0001583	missense	0			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.496C>T	X.37:g.100364892C>T	ENSP00000362018:p.Arg166Cys		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	pfam_CENP-I	p.R166C	ENST00000372927.1	37	c.496	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217701	0.58560	0.0	1.49E-4	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.08	5.08	0.68730	.	0.054076	0.64402	D	0.000001	T	0.77212	0.4097	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.79897	-0.1609	9	0.87932	D	0	-12.2593	10.6224	0.45487	0.2555:0.7445:0.0:0.0	.	166;166	B4DZL4;Q92674	.;CENPI_HUMAN	C	166	.	ENSP00000218507:R166C	R	+	1	0	CENPI	100251548	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.108000	0.50337	2.252000	0.74401	0.600000	0.82982	CGT	CENPI	-	pfam_CENP-I	ENSG00000102384		0.408	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	-	0.00	83	0	C	NM_006733		100364892	+1	tier1	-	no_errors	ENST00000372927	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	T
CEP104	9731	genome.wustl.edu	37	1	3742955	3742955	+	Missense_Mutation	SNP	G	G	A	rs201407033		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:3742955G>A	ENST00000378230.3	-	17	2558	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	745						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GTGCTCATCCGGGATTCCCAG	0.428																																																	0								G	LEU/PRO	0,4406		0,0,2203	81.0	77.0	79.0		2234	4.5	0.0	1		79	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CEP104	NM_014704.3	98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	745/926	3742955	3,13003	2203	4300	6503	SO:0001583	missense	0			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2234C>T	1.37:g.3742955G>A	ENSP00000367476:p.Pro745Leu		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	superfamily_Galactose-bd-like,superfamily_ARM-type_fold	p.P745L	ENST00000378230.3	37	c.2234	CCDS30571.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.762|9.762	1.170235|1.170235	0.21621|0.21621	0.0|0.0	3.49E-4|3.49E-4	ENSG00000116198|ENSG00000116198	ENST00000378230|ENST00000438539	T|.	0.45668|.	0.89|.	4.52|4.52	4.52|4.52	0.55395|0.55395	.|.	0.232811|.	0.36101|.	N|.	0.002788|.	T|T	0.70124|0.70124	0.3188|0.3188	M|M	0.65975|0.65975	2.015|2.015	0.48975|0.48975	D|D	0.999732|0.999732	P|.	0.47841|.	0.901|.	B|.	0.34418|.	0.182|.	T|T	0.69702|0.69702	-0.5074|-0.5074	10|5	0.23302|.	T|.	0.38|.	.|.	12.6391|12.6391	0.56698|0.56698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	745|.	O60308|.	CE104_HUMAN|.	L|W	745|42	ENSP00000367476:P745L|.	ENSP00000367476:P745L|.	P|R	-|-	2|1	0|2	CEP104|CEP104	3732815|3732815	0.027000|0.027000	0.19231|0.19231	0.005000|0.005000	0.12908|0.12908	0.005000|0.005000	0.04900|0.04900	1.801000|1.801000	0.38843|0.38843	2.334000|2.334000	0.79466|0.79466	0.655000|0.655000	0.94253|0.94253	CCG|CGG	CEP104	-	NULL	ENSG00000116198		0.428	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	-	0.00	52	0	G	NM_014704		3742955	-1	tier1	rs201407033	no_errors	ENST00000378230	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.010	A
CEP152	22995	genome.wustl.edu	37	15	49076223	49076223	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:49076223A>G	ENST00000380950.2	-	10	1455	c.1268T>C	c.(1267-1269)tTg>tCg	p.L423S	RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.L330S|CEP152_ENST00000399334.3_Missense_Mutation_p.L423S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	423					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACTTCTTGTCAACTTATTAAT	0.428																																																	0													120.0	117.0	118.0					15																	49076223		1891	4111	6002	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1268T>C	15.37:g.49076223A>G	ENSP00000370337:p.Leu423Ser		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.L423S	ENST00000380950.2	37	c.1268	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131731	0.56828	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.85411	-1.98;-1.98;-1.98	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	D	0.92074	0.7488	M	0.79475	2.455	0.43489	D	0.995724	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.93102	0.6509	10	0.87932	D	0	-6.4731	15.0105	0.71547	1.0:0.0:0.0:0.0	.	330;423;423	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	S	423;330;423;423	ENSP00000370337:L423S;ENSP00000321000:L330S;ENSP00000382271:L423S	ENSP00000321000:L330S	L	-	2	0	CEP152	46863515	1.000000	0.71417	0.453000	0.27007	0.233000	0.25261	7.204000	0.77872	2.037000	0.60232	0.460000	0.39030	TTG	CEP152	-	NULL	ENSG00000103995		0.428	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	-	0.00	55	0	A	NM_014985		49076223	-1	tier1	-	no_errors	ENST00000380950	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.894	G
ZNF22	7570	genome.wustl.edu	37	10	45498719	45498719	+	Intron	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:45498719T>C	ENST00000298299.3	+	2	504				CEP164P1_ENST00000456938.2_RNA|C10orf25_ENST00000298298.1_5'Flank	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22						odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				TTTTTCCTTCTACACACAGAA	0.313																																																	0																																										SO:0001627	intron_variant	0			BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.-89-9T>C	10.37:g.45498719T>C			Q5T741|Q96FM4	RNA	SNP	-	NULL	ENST00000298299.3	37	NULL	CCDS7211.1	10																																																																																			CEP164P1	-	-	ENSG00000226937		0.313	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164P1	HGNC	protein_coding	OTTHUMT00000047761.1	-	0.00	20	0	T	NM_006963		45498719	-1	tier1	-	no_errors	ENST00000456938	ensembl	human	known	74_37	rna	47.06	9	8	SNP	0.001	C
CEP170	9859	genome.wustl.edu	37	1	243354507	243354507	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:243354507G>T	ENST00000366542.1	-	8	972	c.921C>A	c.(919-921)caC>caA	p.H307Q	CEP170_ENST00000366544.1_Missense_Mutation_p.H307Q|CEP170_ENST00000366543.1_Missense_Mutation_p.H307Q	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	307						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TCTTGGACTTGTGGCGCTGAT	0.453																																																	0													45.0	37.0	40.0					1																	243354507		1803	4035	5838	SO:0001583	missense	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.921C>A	1.37:g.243354507G>T	ENSP00000355500:p.His307Gln		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.H307Q	ENST00000366542.1	37	c.921	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.91|11.91	1.780418|1.780418	0.31502|0.31502	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.25912|.	1.77;1.77;1.77|.	4.91|4.91	3.98|3.98	0.46160|0.46160	.|.	0.181084|.	0.49305|.	D|.	0.000158|.	T|T	0.39253|0.39253	0.1071|0.1071	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	B;B;B|.	0.25441|.	0.119;0.038;0.126|.	B;B;B|.	0.31191|.	0.125;0.078;0.021|.	T|T	0.14200|0.14200	-1.0481|-1.0481	10|5	0.25106|.	T|.	0.35|.	-7.553|-7.553	9.2858|9.2858	0.37755|0.37755	0.078:0.1428:0.7792:0.0|0.078:0.1428:0.7792:0.0	.|.	307;307;307|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	Q|K	307;307;307;205|209	ENSP00000355500:H307Q;ENSP00000355502:H307Q;ENSP00000355501:H307Q|.	ENSP00000355500:H307Q|.	H|T	-|-	3|2	2|0	CEP170|CEP170	241421130|241421130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	3.543000|3.543000	0.53633|0.53633	2.282000|2.282000	0.76494|0.76494	0.455000|0.455000	0.32223|0.32223	CAC|ACA	CEP170	-	NULL	ENSG00000143702		0.453	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	-	0.00	71	0	G	NM_014812		243354507	-1	tier1	-	no_errors	ENST00000366542	ensembl	human	known	74_37	missense	17.39	57	12	SNP	1.000	T
CEP170B	283638	genome.wustl.edu	37	14	105354207	105354207	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105354207A>G	ENST00000414716.3	+	12	3859	c.3631A>G	c.(3631-3633)Atg>Gtg	p.M1211V	CEP170B_ENST00000418279.1_Missense_Mutation_p.M1141V|CEP170B_ENST00000453495.1_Missense_Mutation_p.M1212V|CEP170B_ENST00000556508.1_Missense_Mutation_p.M1141V	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1211						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CAAGCCCACCATGGCCGAAGC	0.682																																																	0													6.0	9.0	8.0					14																	105354207		1993	4114	6107	SO:0001583	missense	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3631A>G	14.37:g.105354207A>G	ENSP00000404151:p.Met1211Val		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.M1212V	ENST00000414716.3	37	c.3634	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	a	4.100	0.016596	0.07959	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.39406	1.14;1.09;1.14;1.08	3.95	-0.102	0.13613	.	0.861681	0.10242	N	0.698293	T	0.21227	0.0511	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.002	T	0.28364	-1.0046	10	0.02654	T	1	-8.7198	10.3285	0.43807	0.4975:0.0:0.5025:0.0	.	1211;1211;1141	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	V	1141;1211;1212;1141	ENSP00000451249:M1141V;ENSP00000404151:M1211V;ENSP00000407238:M1212V;ENSP00000415006:M1141V	ENSP00000404151:M1211V	M	+	1	0	KIAA0284	104425252	0.000000	0.05858	0.842000	0.33263	0.867000	0.49689	-0.085000	0.11250	-0.325000	0.08577	0.255000	0.18592	ATG	CEP170B	-	NULL	ENSG00000099814		0.682	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2	-	0.00	122	0	A	NM_001112726		105354207	+1	tier1	-	no_errors	ENST00000453495	ensembl	human	known	74_37	missense	13.89	93	15	SNP	0.074	G
CEP350	9857	genome.wustl.edu	37	1	180063462	180063462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:180063462delA	ENST00000367607.3	+	34	8640	c.8222delA	c.(8221-8223)gaafs	p.E2741fs	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2741					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTAAATGAGGAAAAAAAGTCA	0.353																																																	0													40.0	41.0	41.0					1																	180063462		2203	4300	6503	SO:0001589	frameshift_variant	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8222delA	1.37:g.180063462delA	ENSP00000356579:p.Glu2741fs		O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.K2743fs	ENST00000367607.3	37	c.8222	CCDS1336.1	1																																																																																			CEP350	-	NULL	ENSG00000135837		0.353	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2		0.00	57	0	A	NM_014810		180063462	+1	tier1		no_errors	ENST00000367607	ensembl	human	known	74_37	frame_shift_del	27.91	31	12	DEL	0.101	-
CEP76	79959	genome.wustl.edu	37	18	12699055	12699055	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:12699055C>T	ENST00000262127.2	-	4	668	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CEP76_ENST00000586887.1_5'UTR|CEP76_ENST00000423709.2_Intron|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	148					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGTTTAGAACGAAAACGTTG	0.378																																																	0													89.0	82.0	84.0					18																	12699055		2203	4300	6503	SO:0001583	missense	0			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.443G>A	18.37:g.12699055C>T	ENSP00000262127:p.Arg148His		B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	superfamily_C2_dom	p.R148H	ENST00000262127.2	37	c.443	CCDS11861.1	18	.	.	.	.	.	.	.	.	.	.	C	33	5.244518	0.95272	.	.	ENSG00000101624	ENST00000262127	T	0.80566	-1.39	5.83	5.83	0.93111	.	0.045898	0.85682	D	0.000000	D	0.86033	0.5836	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	P	0.51415	0.669	D	0.86609	0.1871	10	0.59425	D	0.04	-1.9037	20.1338	0.98010	0.0:1.0:0.0:0.0	.	148	Q8TAP6	CEP76_HUMAN	H	148	ENSP00000262127:R148H	ENSP00000262127:R148H	R	-	2	0	CEP76	12689055	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.070000	0.71220	2.770000	0.95276	0.655000	0.94253	CGT	CEP76	-	superfamily_C2_dom	ENSG00000101624		0.378	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP76	HGNC	protein_coding	OTTHUMT00000254611.1	-	0.00	73	0	C	NM_024899		12699055	-1	tier1	-	no_errors	ENST00000262127	ensembl	human	known	74_37	missense	12.50	62	9	SNP	1.000	T
CES5A	221223	genome.wustl.edu	37	16	55909120	55909120	+	Missense_Mutation	SNP	C	C	A	rs145811692		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:55909120C>A	ENST00000290567.9	-	1	135	c.14G>T	c.(13-15)tGg>tTg	p.W5L	CES5A_ENST00000518005.1_Intron|CES5A_ENST00000520435.1_Missense_Mutation_p.W5L|CES5A_ENST00000319165.9_Missense_Mutation_p.W5L|CES5A_ENST00000521992.1_Intron|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	5						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGGTGCACCCAATTCCCACT	0.557																																																	0													111.0	106.0	108.0					16																	55909120		2198	4300	6498	SO:0001583	missense	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.14G>T	16.37:g.55909120C>A	ENSP00000290567:p.Trp5Leu		B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.W5L	ENST00000290567.9	37	c.14	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	C	4.601	0.111722	0.08831	.	.	ENSG00000159398	ENST00000319165;ENST00000290567;ENST00000520435	T;T;T	0.69175	-0.24;-0.16;-0.38	4.31	3.34	0.38264	.	0.000000	0.33075	N	0.005302	T	0.50240	0.1604	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.12156	0.001;0.007	T	0.49263	-0.8958	10	0.59425	D	0.04	.	9.7907	0.40704	0.2044:0.7956:0.0:0.0	.	5;5	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	L	5	ENSP00000324271:W5L;ENSP00000290567:W5L;ENSP00000428887:W5L	ENSP00000290567:W5L	W	-	2	0	CES5A	54466621	0.002000	0.14202	0.282000	0.24776	0.021000	0.10359	0.514000	0.22786	1.389000	0.46526	0.650000	0.86243	TGG	CES5A	-	NULL	ENSG00000159398		0.557	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	-	0.00	46	0	C	NM_145024		55909120	-1	tier1	-	no_errors	ENST00000290567	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.310	A
CES2	8824	genome.wustl.edu	37	16	66977773	66977773	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:66977773C>T	ENST00000317091.4	+	12	2701	c.1717C>T	c.(1717-1719)Ccg>Tcg	p.P573S	CES2_ENST00000417689.1_Missense_Mutation_p.P557S|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	509					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	GCCACACTGGCCGCTGTTCGA	0.632																																					Ovarian(70;1230 1691 37888 38351)												0													45.0	43.0	44.0					16																	66977773		2200	4300	6500	SO:0001583	missense	0			BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1717C>T	16.37:g.66977773C>T	ENSP00000317842:p.Pro573Ser		A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.P573S	ENST00000317091.4	37	c.1717	CCDS10825.1	16	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640262	0.67244	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.59906	0.23;0.23	4.98	4.98	0.66077	Carboxylesterase, type B (1);	0.000000	0.47852	D	0.000206	T	0.79741	0.4498	M	0.88906	2.99	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83749	0.0208	10	0.87932	D	0	.	15.8571	0.78987	0.0:1.0:0.0:0.0	.	509;573	O00748;A8K367	EST2_HUMAN;.	S	557;573	ENSP00000394452:P557S;ENSP00000317842:P573S	ENSP00000317842:P573S	P	+	1	0	CES2	65535274	1.000000	0.71417	0.998000	0.56505	0.082000	0.17680	6.303000	0.72794	2.587000	0.87381	0.650000	0.86243	CCG	CES2	-	pfam_CarbesteraseB	ENSG00000172831		0.632	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES2	HGNC	protein_coding	OTTHUMT00000268838.2	-	0.00	97	0	C	NM_003869		66977773	+1	tier1	-	no_errors	ENST00000317091	ensembl	human	known	74_37	missense	10.38	95	11	SNP	1.000	T
CES5AP1	649264	genome.wustl.edu	37	22	23719224	23719224	+	RNA	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:23719224C>A	ENST00000415114.1	-	0	353									carboxylesterase 5A pseudogene 1																		CAGGAATGTCCCATCAGCCCA	0.557																																																	0																																												0					22q11.23	2010-10-19			ENSG00000215478	ENSG00000215478			38516	pseudogene	pseudogene							Standard	NR_037839		Approved		uc021wms.1		OTTHUMG00000150651		22.37:g.23719224C>A				RNA	SNP	-	NULL	ENST00000415114.1	37	NULL		22																																																																																			CES5AP1	-	-	ENSG00000215478		0.557	CES5AP1-002	KNOWN	basic	processed_transcript	CES5AP1	HGNC	pseudogene	OTTHUMT00000319403.1	-	0.00	29	0	C			23719224	-1	tier1	-	no_errors	ENST00000424029	ensembl	human	known	74_37	rna	17.24	24	5	SNP	0.011	A
CETN3	1070	genome.wustl.edu	37	5	89701581	89701581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:89701581delT	ENST00000283122.3	-	3	313	c.189delA	c.(187-189)aaafs	p.K63fs	CETN3_ENST00000522083.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522565.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522864.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522842.1_Frame_Shift_Del_p.K63fs	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	63	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		GTACATCAGCTTTTTTTACAT	0.308																																																	0													96.0	95.0	96.0					5																	89701581		2202	4299	6501	SO:0001589	frameshift_variant	0			Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"""EF-hand domain containing"""	1868	protein-coding gene	gene with protein product	"""CDC31 yeast homolog"", ""EF-hand superfamily member"""	602907	"""centrin, EF-hand protein, 3 (CDC31 yeast homolog)"""			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326	ENST00000283122.3:c.189delA	5.37:g.89701581delT	ENSP00000283122:p.Lys63fs		Q53YD2|Q9BS23	Frame_Shift_Del	DEL	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.A64fs	ENST00000283122.3	37	c.189	CCDS4066.1	5																																																																																			CETN3	-	pfscan_EF_hand_dom	ENSG00000153140		0.308	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN3	HGNC	protein_coding	OTTHUMT00000254097.1		0.00	107	0	T	NM_004365		89701581	-1	tier1		no_errors	ENST00000283122	ensembl	human	known	74_37	frame_shift_del	16.67	100	20	DEL	1.000	-
CETP	1071	genome.wustl.edu	37	16	56996989	56996989	+	Silent	SNP	C	C	T	rs376596539		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:56996989C>T	ENST00000200676.3	+	2	316	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CETP_ENST00000379780.2_Silent_p.G62G|CETP_ENST00000566128.1_5'UTR|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2			cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ATATCACGGGCGAGAAGGCCA	0.617																																																	0								C		0,4396		0,0,2198	107.0	78.0	88.0		186	-6.7	0.0	16		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CETP	NM_000078.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		62/494	56996989	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000200676.3:c.186C>T	16.37:g.56996989C>T				Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer	p.G62	ENST00000200676.3	37	c.186	CCDS10772.1	16																																																																																			CETP	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_Cholesteryl_ester_transfer	ENSG00000087237		0.617	CETP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETP	HGNC	protein_coding	OTTHUMT00000257059.1	-	0.00	47	0	C	NM_000078		56996989	+1	tier1	-	no_errors	ENST00000200676	ensembl	human	known	74_37	silent	14.29	42	7	SNP	0.004	T
CHAF1A	10036	genome.wustl.edu	37	19	4422628	4422629	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4422628_4422629delAG	ENST00000301280.5	+	5	1184_1185	c.1083_1084delAG	c.(1081-1086)aaagagfs	p.E363fs		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	363	Arg/Glu/Lys-rich.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGCTGAAAGAGGAGGCCAA	0.545								Chromatin Structure																																									0																																										SO:0001589	frameshift_variant	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1083_1084delAG	19.37:g.4422630_4422631delAG	ENSP00000301280:p.Glu363fs		Q6NXG5|Q7Z7K3|Q9UJY8	Frame_Shift_Del	DEL	pfam_CAF1A	p.E362fs	ENST00000301280.5	37	c.1083_1084	CCDS32875.1	19																																																																																			CHAF1A	-	NULL	ENSG00000167670		0.545	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2		0.00	40	0	AG	NM_005483		4422629	+1	tier1		no_errors	ENST00000301280	ensembl	human	known	74_37	frame_shift_del	18.60	35	8	DEL	0.362:0.964	-
CHAF1A	10036	genome.wustl.edu	37	19	4433174	4433174	+	Missense_Mutation	SNP	G	G	A	rs529604161	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4433174G>A	ENST00000301280.5	+	13	2412	c.2311G>A	c.(2311-2313)Ggc>Agc	p.G771S	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	771	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACCACACCGGCAGCCCGCG	0.672								Chromatin Structure																																									0													41.0	46.0	44.0					19																	4433174		2203	4299	6502	SO:0001583	missense	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2311G>A	19.37:g.4433174G>A	ENSP00000301280:p.Gly771Ser		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	pfam_CAF1A	p.G771S	ENST00000301280.5	37	c.2311	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	G	3.481	-0.105802	0.06924	.	.	ENSG00000167670	ENST00000301280	T	0.25749	1.78	4.96	-0.453	0.12201	.	.	.	.	.	T	0.07773	0.0195	N	0.01705	-0.755	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.38929	-0.9638	8	.	.	.	-8.1537	5.4611	0.16617	0.3133:0.4152:0.2715:0.0	.	771	Q13111	CAF1A_HUMAN	S	771	ENSP00000301280:G771S	.	G	+	1	0	CHAF1A	4384174	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.432000	0.06956	-0.269000	0.09298	-0.345000	0.07892	GGC	CHAF1A	-	NULL	ENSG00000167670		0.672	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	-	0.00	147	0	G	NM_005483		4433174	+1	tier1	-	no_errors	ENST00000301280	ensembl	human	known	74_37	missense	10.53	136	16	SNP	0.000	A
CHD1	1105	genome.wustl.edu	37	5	98194002	98194002	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:98194002G>A	ENST00000284049.3	-	34	4818	c.4669C>T	c.(4669-4671)Cat>Tat	p.H1557Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1557					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CGGTCTTTATGATGATCATGG	0.373																																																	0													262.0	257.0	259.0					5																	98194002		2203	4300	6503	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4669C>T	5.37:g.98194002G>A	ENSP00000284049:p.His1557Tyr		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.H1557Y	ENST00000284049.3	37	c.4669	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	G	0.965	-0.702057	0.03255	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.90069	-2.61	5.31	5.31	0.75309	.	0.000000	0.34386	U	0.004006	D	0.84051	0.5387	L	0.36672	1.1	0.39862	D	0.973393	P	0.39282	0.666	B	0.32022	0.139	D	0.86175	0.1602	10	0.56958	D	0.05	.	19.324	0.94254	0.0:0.0:1.0:0.0	.	1557	O14646	CHD1_HUMAN	Y	147;1557	ENSP00000284049:H1557Y	ENSP00000284049:H1557Y	H	-	1	0	CHD1	98221902	1.000000	0.71417	0.994000	0.49952	0.214000	0.24535	3.335000	0.52105	2.635000	0.89317	0.555000	0.69702	CAT	CHD1	-	NULL	ENSG00000153922		0.373	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0.00	77	0	G	NM_001270		98194002	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	24.29	53	17	SNP	0.997	A
CHD1	1105	genome.wustl.edu	37	5	98210788	98210788	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:98210788C>T	ENST00000284049.3	-	24	3577	c.3428G>A	c.(3427-3429)gGt>gAt	p.G1143D		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1143					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCCAGAGGACCACCAAATTT	0.289																																																	0													54.0	58.0	57.0					5																	98210788		2201	4271	6472	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3428G>A	5.37:g.98210788C>T	ENSP00000284049:p.Gly1143Asp		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G1143D	ENST00000284049.3	37	c.3428	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601324	0.13939	.	.	ENSG00000153922	ENST00000284049	D	0.88201	-2.35	4.84	4.84	0.62591	.	0.000000	0.34291	U	0.004089	T	0.76681	0.4021	N	0.11313	0.125	0.53688	D	0.999974	B	0.14438	0.01	B	0.10450	0.005	T	0.71159	-0.4674	10	0.09843	T	0.71	.	13.6798	0.62476	0.0:0.8449:0.1551:0.0	.	1143	O14646	CHD1_HUMAN	D	1143	ENSP00000284049:G1143D	ENSP00000284049:G1143D	G	-	2	0	CHD1	98238688	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	1.739000	0.38217	2.409000	0.81822	0.650000	0.86243	GGT	CHD1	-	NULL	ENSG00000153922		0.289	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0.00	55	0	C	NM_001270		98210788	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	34.33	44	23	SNP	1.000	T
CHD3	1107	genome.wustl.edu	37	17	7801849	7801849	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7801849G>A	ENST00000330494.7	+	13	2237	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	CHD3_ENST00000380358.4_Missense_Mutation_p.R755H|CHD3_ENST00000358181.4_Missense_Mutation_p.R696H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	696					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCCCAGCCCCGCAAGTATAAG	0.493																																																	0													72.0	71.0	71.0					17																	7801849		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2087G>A	17.37:g.7801849G>A	ENSP00000332628:p.Arg696His		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R696H	ENST00000330494.7	37	c.2087	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026598	0.54683	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90504	-2.68;-2.61;-2.62	4.84	4.84	0.62591	.	0.000000	0.45126	D	0.000399	D	0.83022	0.5164	N	0.08118	0	0.39241	D	0.963867	D;D;D	0.64830	0.994;0.989;0.989	P;B;P	0.48488	0.579;0.375;0.474	D	0.83979	0.0331	10	0.39692	T	0.17	-15.1013	11.0653	0.47972	0.0884:0.0:0.9116:0.0	.	696;696;755	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	H	755;696;696	ENSP00000369716:R755H;ENSP00000350907:R696H;ENSP00000332628:R696H	ENSP00000332628:R696H	R	+	2	0	CHD3	7742574	0.025000	0.19082	0.998000	0.56505	0.723000	0.41478	1.662000	0.37418	2.686000	0.91538	0.561000	0.74099	CGC	CHD3	-	superfamily_P-loop_NTPase	ENSG00000170004		0.493	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	-	0.00	35	0	G	NM_001005273		7801849	+1	tier1	-	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	32.43	25	12	SNP	0.997	A
CHD4	1108	genome.wustl.edu	37	12	6700898	6700898	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:6700898G>T	ENST00000357008.2	-	21	3347	c.3184C>A	c.(3184-3186)Ctt>Att	p.L1062I	CHD4_ENST00000544040.1_Missense_Mutation_p.L1055I|CHD4_ENST00000544484.1_Missense_Mutation_p.L1059I|CHD4_ENST00000309577.6_Missense_Mutation_p.L1062I	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1062	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCCTCCTTAAGGTTCTTGAGC	0.463																																					Colon(32;586 792 4568 16848 45314)												0													127.0	121.0	123.0					12																	6700898		2203	4300	6503	SO:0001583	missense	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3184C>A	12.37:g.6700898G>T	ENSP00000349508:p.Leu1062Ile		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L1062I	ENST00000357008.2	37	c.3184	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050832	0.75960	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.15	5.15	0.70609	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.89220	0.6653	M	0.66439	2.03	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.996	D;D;D	0.85130	0.994;0.997;0.986	D	0.89941	0.4073	10	0.87932	D	0	.	12.027	0.53375	0.0792:0.0:0.9208:0.0	.	1062;1062;1055	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	I	1059;1055;1062;1062;1036	ENSP00000440392:L1059I;ENSP00000440542:L1055I;ENSP00000312419:L1062I;ENSP00000349508:L1062I	ENSP00000312419:L1062I	L	-	1	0	CHD4	6571159	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.558000	0.73942	2.402000	0.81655	0.655000	0.94253	CTT	CHD4	-	pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000111642		0.463	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		-	0.00	64	0	G	NM_001273		6700898	-1	tier1	-	no_errors	ENST00000309577	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
CHD6	84181	genome.wustl.edu	37	20	40052243	40052243	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:40052243G>A	ENST00000373233.3	-	30	4621	c.4444C>T	c.(4444-4446)Cgc>Tgc	p.R1482C		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1482	Myb-like.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAAATGATGCGGAACTGTGTC	0.443																																																	0													163.0	170.0	168.0					20																	40052243		2203	4300	6503	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4444C>T	20.37:g.40052243G>A	ENSP00000362330:p.Arg1482Cys		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1482C	ENST00000373233.3	37	c.4444	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928613	0.92389	.	.	ENSG00000124177	ENST00000373233	D	0.94793	-3.52	6.07	6.07	0.98685	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000007	D	0.97876	0.9302	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97909	1.0307	10	0.87932	D	0	-12.954	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1482	Q8TD26	CHD6_HUMAN	C	1482	ENSP00000362330:R1482C	ENSP00000362330:R1482C	R	-	1	0	CHD6	39485657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.405000	0.73272	2.884000	0.98904	0.655000	0.94253	CGC	CHD6	-	NULL	ENSG00000124177		0.443	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	-	0.00	44	0	G			40052243	-1	tier1	-	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	A
CHD8	57680	genome.wustl.edu	37	14	21868338	21868339	+	In_Frame_Ins	INS	-	-	ATA			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:21868338_21868339insATA	ENST00000557364.1	-	24	4961_4962	c.4698_4699insTAT	c.(4696-4701)tataag>tatTATaag	p.1566_1567insY	CHD8_ENST00000399982.2_In_Frame_Ins_p.1566_1567insY|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_In_Frame_Ins_p.1287_1288insY|SNORD8_ENST00000363915.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1566					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGTGCTTCTTATAACTTTCAT	0.381																																																	0																																										SO:0001652	inframe_insertion	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4696_4698dupTAT	14.37:g.21868339_21868341dupATA	ENSP00000451601:p.Tyr1566_Tyr1566dup		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	In_Frame_Ins	INS	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.1566in_frame_insY	ENST00000557364.1	37	c.4699_4698	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.381	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1		0.00	55	0	-	NM_020920		21868339	-1	tier1		no_errors	ENST00000399982	ensembl	human	known	74_37	in_frame_ins	16.44	61	12	INS	1.000:1.000	ATA
CHD9	80205	genome.wustl.edu	37	16	53276879	53276880	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:53276879_53276880insA	ENST00000398510.3	+	12	3092_3093	c.3005_3006insA	c.(3004-3009)ttaaaafs	p.LK1002fs	CHD9_ENST00000566029.1_Frame_Shift_Ins_p.LK1002fs|CHD9_ENST00000564845.1_Frame_Shift_Ins_p.LK1002fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.LK1002fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1002	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCACATAGGTTAAAAAATAAAA	0.332																																																	0																																										SO:0001589	frameshift_variant	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3011dupA	16.37:g.53276885_53276885dupA	ENSP00000381522:p.Leu1002fs		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N1004fs	ENST00000398510.3	37	c.3005_3006		16																																																																																			CHD9	-	pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000177200		0.332	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1		0.00	25	0	-	NM_025134		53276880	+1	tier1		no_errors	ENST00000398510	ensembl	human	known	74_37	frame_shift_ins	20.59	27	7	INS	1.000:1.000	A
CHIC1	53344	genome.wustl.edu	37	X	72783226	72783226	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:72783226T>C	ENST00000373502.5	+	1	183	c.106T>C	c.(106-108)Tcg>Ccg	p.S36P	MAP2K4P1_ENST00000602584.1_RNA|CHIC1_ENST00000373504.6_Missense_Mutation_p.S36P	NM_001039840.2	NP_001034929.2	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	36	Ser-rich.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					gtcgtcgtcgtcgtcgGTATC	0.607																																																	0													21.0	12.0	15.0					X																	72783226		2117	4121	6238	SO:0001583	missense	0			Y11897	CCDS35335.2, CCDS75993.1	Xq13.2	2008-05-14			ENSG00000204116	ENSG00000204116			1934	protein-coding gene	gene with protein product		300922				9321471, 11257495	Standard	NM_001039840		Approved	BRX	uc004ebk.4	Q5VXU3	OTTHUMG00000021835	ENST00000373502.5:c.106T>C	X.37:g.72783226T>C	ENSP00000362601:p.Ser36Pro		A0PJZ2|B0QZ87|B9EGS5|Q5CZ84	Missense_Mutation	SNP	pfam_Golgin_A_7/ERF4	p.S36P	ENST00000373502.5	37	c.106	CCDS35335.2	X	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487795	0.44249	.	.	ENSG00000204116	ENST00000373502;ENST00000373504	.	.	.	3.87	2.59	0.31030	.	0.000000	0.33980	N	0.004379	T	0.13628	0.0330	N	0.08118	0	0.25018	N	0.991353	P;P;P	0.48294	0.851;0.908;0.851	B;B;B	0.42112	0.208;0.376;0.13	T	0.06303	-1.0834	9	0.37606	T	0.19	-11.6976	5.2808	0.15674	0.259:0.0:0.0:0.741	.	36;36;36	B7Z3I1;Q5VXU3-2;Q5VXU3	.;.;CHIC1_HUMAN	P	36	.	ENSP00000362601:S36P	S	+	1	0	CHIC1	72699951	1.000000	0.71417	0.979000	0.43373	0.860000	0.49131	0.864000	0.27926	1.562000	0.49601	0.345000	0.21793	TCG	CHIC1	-	NULL	ENSG00000204116		0.607	CHIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIC1	HGNC	protein_coding	OTTHUMT00000057233.3	-	0.00	46	0	T			72783226	+1	tier1	-	no_errors	ENST00000373502	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.993	C
CHM	1121	genome.wustl.edu	37	X	85211363	85211363	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:85211363delA	ENST00000357749.2	-	8	990	c.961delT	c.(961-963)tatfs	p.Y321fs	CHM_ENST00000537751.1_Frame_Shift_Del_p.Y173fs|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	321					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AAATATTCATAAAATGTGATC	0.333																																																	0													49.0	43.0	45.0					X																	85211363		2203	4300	6503	SO:0001589	frameshift_variant	0			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.961delT	X.37:g.85211363delA	ENSP00000350386:p.Tyr321fs		A1L4D2|O43732	Frame_Shift_Del	DEL	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.Y321fs	ENST00000357749.2	37	c.961	CCDS14454.1	X																																																																																			CHM	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk	ENSG00000188419		0.333	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3		0.00	40	0	A	NM_000390		85211363	-1	tier1		no_errors	ENST00000357749	ensembl	human	known	74_37	frame_shift_del	26.47	25	9	DEL	0.999	-
CHODL	140578	genome.wustl.edu	37	21	19638458	19638458	+	3'UTR	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:19638458A>G	ENST00000299295.2	+	0	1316				CHODL_ENST00000400128.1_3'UTR|CHODL_ENST00000400127.1_3'UTR|CHODL_ENST00000338326.3_Silent_p.Q233Q|CHODL_ENST00000400131.1_Silent_p.Q233Q|CHODL_ENST00000543733.1_3'UTR|CHODL_ENST00000400135.1_Silent_p.Q233Q	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin						muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGGATCTGCAAGATGAACTGT	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.*103A>G	21.37:g.19638458A>G			B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Q233	ENST00000299295.2	37	c.699	CCDS13570.1	21																																																																																			CHODL	-	NULL	ENSG00000154645		0.343	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHODL	HGNC	protein_coding	OTTHUMT00000158232.1	-	0.00	45	0	A	NM_024944		19638458	+1	tier1	-	no_errors	ENST00000338326	ensembl	human	known	74_37	silent	26.98	46	17	SNP	1.000	G
CHPT1	56994	genome.wustl.edu	37	12	102108338	102108338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:102108338delT	ENST00000229266.3	+	3	713	c.478delT	c.(478-480)tttfs	p.F162fs	CHPT1_ENST00000550385.1_3'UTR|CHPT1_ENST00000549872.1_Frame_Shift_Del_p.F162fs	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	162			F -> S (in dbSNP:rs3205421). {ECO:0000269|PubMed:10893425}.		CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCCTGACTGGTTTTTTTTCTG	0.343																																																	0													162.0	149.0	154.0					12																	102108338		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.478delT	12.37:g.102108338delT	ENSP00000229266:p.Phe162fs		B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Frame_Shift_Del	DEL	pfam_CDP-OH_P_trans,pirsf_CHOPT	p.F162fs	ENST00000229266.3	37	c.478	CCDS9086.1	12																																																																																			CHPT1	-	pfam_CDP-OH_P_trans,pirsf_CHOPT	ENSG00000111666		0.343	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHPT1	HGNC	protein_coding	OTTHUMT00000409173.1		0.00	141	0	T	NM_020244		102108338	+1	tier1		no_errors	ENST00000229266	ensembl	human	known	74_37	frame_shift_del	17.50	99	21	DEL	0.989	-
CHRNA2	1135	genome.wustl.edu	37	8	27324753	27324753	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:27324753A>G	ENST00000520933.2	-	4	595	c.442T>C	c.(442-444)Tac>Cac	p.Y148H	CHRNA2_ENST00000240132.2_Missense_Mutation_p.Y133H|CHRNA2_ENST00000407991.1_Missense_Mutation_p.Y148H			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	148					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	TACTTGTTGTAGAGAACAATG	0.587																																																	0													86.0	81.0	83.0					8																	27324753		2203	4300	6503	SO:0001583	missense	0			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.442T>C	8.37:g.27324753A>G	ENSP00000429616:p.Tyr148His		A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.Y148H	ENST00000520933.2	37	c.442	CCDS6059.1	8	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923186	0.73213	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.79653	-1.29;-1.29;-1.29	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91553	0.7332	M	0.92880	3.355	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93325	0.6696	10	0.87932	D	0	.	13.3547	0.60621	1.0:0.0:0.0:0.0	.	133;148	B4DK19;Q15822	.;ACHA2_HUMAN	H	148;148;133	ENSP00000385026:Y148H;ENSP00000429616:Y148H;ENSP00000240132:Y133H	ENSP00000240132:Y133H	Y	-	1	0	CHRNA2	27380670	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.480000	0.81109	2.037000	0.60232	0.459000	0.35465	TAC	CHRNA2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000120903		0.587	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA2	HGNC	protein_coding	OTTHUMT00000376125.4	-	0.00	57	0	A			27324753	-1	tier1	-	no_errors	ENST00000407991	ensembl	human	known	74_37	missense	12.12	58	8	SNP	1.000	G
CHRNA6	8973	genome.wustl.edu	37	8	42611064	42611064	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:42611064C>T	ENST00000276410.2	-	5	1633	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Silent_p.S411S	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	426					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	CAACTTCAGGCGAGTGCTCCG	0.433																																																	0													222.0	192.0	202.0					8																	42611064		2203	4300	6503	SO:0001819	synonymous_variant	0			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1278G>A	8.37:g.42611064C>T			B2R8V4|B4DQH1	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S426	ENST00000276410.2	37	c.1278	CCDS6135.1	8																																																																																			CHRNA6	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000147434		0.433	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA6	HGNC	protein_coding	OTTHUMT00000383156.1	-	0.00	53	0	C			42611064	-1	tier1	-	no_errors	ENST00000276410	ensembl	human	known	74_37	silent	8.86	72	7	SNP	0.000	T
CHRNB4	1143	genome.wustl.edu	37	15	78917544	78917544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:78917544delC	ENST00000261751.3	-	6	1539	c.1428delG	c.(1426-1428)gggfs	p.G476fs	CHRNB4_ENST00000412074.2_Frame_Shift_Del_p.G150fs|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	476					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GTAGGAAGAGCCCCACAGTGC	0.622																																																	0													210.0	189.0	196.0					15																	78917544		2196	4293	6489	SO:0001589	frameshift_variant	0			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1428delG	15.37:g.78917544delC	ENSP00000261751:p.Gly476fs		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Frame_Shift_Del	DEL	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L477fs	ENST00000261751.3	37	c.1428	CCDS10306.1	15																																																																																			CHRNB4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000117971		0.622	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	HGNC	protein_coding	OTTHUMT00000290108.1		0.00	54	0	C			78917544	-1	tier1		no_errors	ENST00000261751	ensembl	human	known	74_37	frame_shift_del	19.23	42	10	DEL	0.868	-
CHRNE	1145	genome.wustl.edu	37	17	4804100	4804100	+	Missense_Mutation	SNP	G	G	T	rs370019023		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:4804100G>T	ENST00000293780.4	-	8	915	c.905C>A	c.(904-906)cCg>cAg	p.P302Q	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	302					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GCCCAGGAGCGGCACGCTCAG	0.637																																																	0													43.0	43.0	43.0					17																	4804100		2203	4300	6503	SO:0001583	missense	0			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.905C>A	17.37:g.4804100G>T	ENSP00000293780:p.Pro302Gln		D3DTK6	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.P302Q	ENST00000293780.4	37	c.905	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939328	0.92526	.	.	ENSG00000108556	ENST00000293780	D	0.93953	-3.32	4.95	4.95	0.65309	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98917	1.0782	10	0.87932	D	0	.	15.7235	0.77732	0.0:0.0:1.0:0.0	.	302	Q04844	ACHE_HUMAN	Q	302	ENSP00000293780:P302Q	ENSP00000293780:P302Q	P	-	2	0	CHRNE	4744879	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.800000	0.91900	2.575000	0.86900	0.655000	0.94253	CCG	CHRNE	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000108556		0.637	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	-	0.00	121	0	G			4804100	-1	tier1	-	no_errors	ENST00000293780	ensembl	human	known	74_37	missense	10.53	85	10	SNP	1.000	T
CHRNE	1145	genome.wustl.edu	37	17	4805288	4805288	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:4805288C>T	ENST00000293780.4	-	5	449	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	147					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	ACTGCGCAGACGCTGCGGTAG	0.597																																																	0													60.0	57.0	58.0					17																	4805288		2203	4300	6503	SO:0001583	missense	0			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.439G>A	17.37:g.4805288C>T	ENSP00000293780:p.Val147Ile		D3DTK6	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.V147I	ENST00000293780.4	37	c.439	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052290	0.55218	.	.	ENSG00000108556	ENST00000293780	T	0.79352	-1.26	4.78	1.39	0.22231	Neurotransmitter-gated ion-channel ligand-binding (3);	0.269900	0.41396	D	0.000896	T	0.51058	0.1652	N	0.03608	-0.345	0.80722	D	1	B	0.34255	0.445	B	0.31869	0.137	T	0.48043	-0.9069	10	0.87932	D	0	.	7.1348	0.25523	0.0:0.2912:0.0:0.7088	.	147	Q04844	ACHE_HUMAN	I	147	ENSP00000293780:V147I	ENSP00000293780:V147I	V	-	1	0	CHRNE	4746067	0.436000	0.25586	0.981000	0.43875	0.792000	0.44763	-0.369000	0.07533	0.054000	0.16065	-0.367000	0.07326	GTC	CHRNE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	ENSG00000108556		0.597	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	-	0.00	89	0	C			4805288	-1	tier1	-	no_errors	ENST00000293780	ensembl	human	known	74_37	missense	25.86	43	15	SNP	1.000	T
CHST10	9486	genome.wustl.edu	37	2	101023110	101023110	+	Missense_Mutation	SNP	C	C	A	rs150069978	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:101023110C>A	ENST00000264249.3	-	3	413	c.28G>T	c.(28-30)Gca>Tca	p.A10S	CHST10_ENST00000485085.1_5'Flank|CHST10_ENST00000542617.1_Missense_Mutation_p.A58S|CHST10_ENST00000409701.1_Missense_Mutation_p.A10S	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	10					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CAAAAGCATGCGGCCAGCAGA	0.488																																																	0													184.0	180.0	182.0					2																	101023110		2203	4300	6503	SO:0001583	missense	0			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.28G>T	2.37:g.101023110C>A	ENSP00000264249:p.Ala10Ser		Q53T18	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.A58S	ENST00000264249.3	37	c.172	CCDS2047.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262712	0.80358	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858;ENST00000448989;ENST00000421474;ENST00000418201;ENST00000435960	T;T;T;T;T;T;T;T;T	0.74106	-0.68;-0.81;-0.68;0.58;0.5;0.32;0.34;0.19;-0.06	5.18	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	L	0.32530	0.975	0.58432	D	0.999999	P	0.45348	0.856	P	0.44897	0.463	T	0.58940	-0.7547	10	0.13108	T	0.6	-10.5791	14.2633	0.66099	0.0:0.9161:0.0:0.0839	.	10	O43529	CHSTA_HUMAN	S	10;58;10;10;10;58;10;10;10	ENSP00000264249:A10S;ENSP00000438869:A58S;ENSP00000387309:A10S;ENSP00000387121:A10S;ENSP00000405922:A10S;ENSP00000387977:A58S;ENSP00000407525:A10S;ENSP00000416831:A10S;ENSP00000395643:A10S	ENSP00000264249:A10S	A	-	1	0	CHST10	100389542	1.000000	0.71417	0.861000	0.33841	0.943000	0.58893	3.903000	0.56318	0.699000	0.31761	0.655000	0.94253	GCA	CHST10	-	NULL	ENSG00000115526		0.488	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	HGNC	protein_coding	OTTHUMT00000253162.1	-	0.00	34	0	C	NM_004854		101023110	-1	tier1	-	no_errors	ENST00000542617	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	A
CHST15	51363	genome.wustl.edu	37	10	125804220	125804220	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:125804220C>T	ENST00000346248.5	-	3	1404	c.762G>A	c.(760-762)ccG>ccA	p.P254P	CHST15_ENST00000421115.1_Silent_p.P254P|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Silent_p.P254P	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	254					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGTAGAAGTGCGGCAGGCAGC	0.657																																																	0													43.0	44.0	44.0					10																	125804220		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.762G>A	10.37:g.125804220C>T			O60338|O60474|Q86VM4	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P254	ENST00000346248.5	37	c.762	CCDS7638.1	10																																																																																			CHST15	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000182022		0.657	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	-	0.00	29	0	C	NM_015892		125804220	-1	tier1	-	no_errors	ENST00000346248	ensembl	human	known	74_37	silent	21.21	26	7	SNP	0.058	T
CHST6	4166	genome.wustl.edu	37	16	75512843	75512843	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:75512843A>T	ENST00000332272.4	-	3	1063	c.884T>A	c.(883-885)cTc>cAc	p.L295H	CHST6_ENST00000390664.2_Missense_Mutation_p.L295H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	295					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGTGGCGTGAGACTGAGCCC	0.647																																																	0													57.0	53.0	54.0					16																	75512843		2198	4300	6498	SO:0001583	missense	0			AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.884T>A	16.37:g.75512843A>T	ENSP00000328983:p.Leu295His		D3DUK3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.L295H	ENST00000332272.4	37	c.884	CCDS10918.1	16	.	.	.	.	.	.	.	.	.	.	A	13.05	2.121957	0.37436	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99803	-6.82;-6.82	4.73	4.73	0.59995	Sulfotransferase domain (1);	0.192055	0.41396	D	0.000898	D	0.99632	0.9865	M	0.78637	2.42	0.41389	D	0.9876	D	0.63046	0.992	D	0.67231	0.95	D	0.98115	1.0422	10	0.40728	T	0.16	.	12.1704	0.54155	1.0:0.0:0.0:0.0	.	295	Q9GZX3	CHST6_HUMAN	H	295	ENSP00000328983:L295H;ENSP00000375079:L295H	ENSP00000328983:L295H	L	-	2	0	CHST6	74070344	1.000000	0.71417	0.993000	0.49108	0.334000	0.28698	6.014000	0.70784	1.780000	0.52325	0.482000	0.46254	CTC	CHST6	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000183196		0.647	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST6	HGNC	protein_coding	OTTHUMT00000435478.1	-	0.00	57	0	A	NM_021615		75512843	-1	tier1	-	no_errors	ENST00000332272	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.990	T
CHST8	64377	genome.wustl.edu	37	19	34263896	34263896	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:34263896G>A	ENST00000262622.4	+	4	1961	c.1203G>A	c.(1201-1203)caG>caA	p.Q401Q	CHST8_ENST00000438847.3_Silent_p.Q401Q|CHST8_ENST00000434302.1_Silent_p.Q401Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	401					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TGCAAAGGCAGCGCACCTACG	0.622																																																	0													50.0	55.0	53.0					19																	34263896		2203	4299	6502	SO:0001819	synonymous_variant	0			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1203G>A	19.37:g.34263896G>A			Q9H3N2	Silent	SNP	pfam_Sulfotransferase	p.Q401	ENST00000262622.4	37	c.1203	CCDS12433.1	19																																																																																			CHST8	-	pfam_Sulfotransferase	ENSG00000124302		0.622	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	HGNC	protein_coding	OTTHUMT00000451453.1		0.00	25	0	G	NM_022467		34263896	+1			no_errors	ENST00000262622	ensembl	human	known	74_37	silent	11.54	23	3	SNP	1.000	A
CIC	23152	genome.wustl.edu	37	19	42797376	42797376	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:42797376delC	ENST00000575354.2	+	15	3778	c.3738delC	c.(3736-3738)agcfs	p.S1246fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.S1244fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.S2153fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1246	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P1248fs*54(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCGGAGCAGCCCCCCACTGC	0.706			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Deletion - Frameshift(1)	ovary(1)											9.0	10.0	10.0					19																	42797376		2154	4254	6408	SO:0001589	frameshift_variant	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3738delC	19.37:g.42797376delC	ENSP00000458663:p.Ser1246fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P1248fs	ENST00000575354.2	37	c.3738	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.706	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2		0.00	30	0	C			42797376	+1	tier1		no_errors	ENST00000575354	ensembl	human	known	74_37	frame_shift_del	27.27	24	9	DEL	0.989	-
CIRBP	1153	genome.wustl.edu	37	19	1268346	1268346	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:1268346G>A	ENST00000588030.1	+	2	254				CIRBP_ENST00000413636.2_5'Flank|CIRBP_ENST00000444172.2_5'Flank|CIRBP_ENST00000589686.1_5'Flank|CIRBP_ENST00000586472.1_5'Flank|CIRBP_ENST00000589235.1_5'Flank|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000589660.1_Intron|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000589710.1_5'Flank|CIRBP_ENST00000587896.1_5'Flank|CIRBP_ENST00000585630.1_5'Flank|CIRBP_ENST00000591935.1_Intron|CIRBP_ENST00000586773.1_5'Flank|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000587323.1_5'Flank|CIRBP_ENST00000588230.1_5'Flank|CIRBP_ENST00000320936.5_5'Flank			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein						mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGGCGGCGGCTTTAAGAC	0.637																																																	0													32.0	34.0	33.0					19																	1268346		1447	3108	4555	SO:0001627	intron_variant	0			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.-6-2581G>A	19.37:g.1268346G>A			B3KT17|B4E2X2	RNA	SNP	-	NULL	ENST00000588030.1	37	NULL	CCDS12059.1	19																																																																																			CIRBP-AS1	-	-	ENSG00000267493		0.637	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP-AS1	HGNC	protein_coding	OTTHUMT00000449969.1	-	0.00	114	0	G	NM_001280		1268346	-1	tier1	-	no_errors	ENST00000585832	ensembl	human	known	74_37	rna	13.79	100	16	SNP	0.003	A
CIT	11113	genome.wustl.edu	37	12	120156578	120156578	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:120156578T>C	ENST00000261833.7	-	30	3855	c.3803A>G	c.(3802-3804)gAg>gGg	p.E1268G	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.E1310G	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1268	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCGAGCTTTCTCCTTCTCCAG	0.557																																																	0													85.0	87.0	87.0					12																	120156578		2203	4300	6503	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3803A>G	12.37:g.120156578T>C	ENSP00000261833:p.Glu1268Gly		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.E1268G	ENST00000261833.7	37	c.3803	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.0|27.0	4.790148|4.790148	0.90367|0.90367	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.75154|.	-0.73;-0.91|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74876|0.74876	0.3774|0.3774	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.998;1.0|.	D;D;D|.	0.80764|.	0.994;0.979;0.983|.	T|T	0.75795|0.75795	-0.3192|-0.3192	10|5	0.72032|.	D|.	0.01|.	.|.	15.5612|15.5612	0.76249|0.76249	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1310;1268;786|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	G|G	1310;1268|881	ENSP00000376306:E1310G;ENSP00000261833:E1268G|.	ENSP00000261833:E1268G|.	E|R	-|-	2|1	0|2	CIT|CIT	118640961|118640961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.040000|8.040000	0.89188|0.89188	2.069000|2.069000	0.61940|0.61940	0.533000|0.533000	0.62120|0.62120	GAG|AGA	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.557	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	-	0.00	56	0	T	NM_007174		120156578	-1	tier1	-	no_errors	ENST00000261833	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	C
CIZ1	25792	genome.wustl.edu	37	9	130928677	130928677	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:130928677C>A	ENST00000393608.1	-	17	2698	c.2496G>T	c.(2494-2496)aaG>aaT	p.K832N	CIZ1_ENST00000372948.3_Missense_Mutation_p.K776N|CIZ1_ENST00000277465.4_Missense_Mutation_p.K804N|CIZ1_ENST00000325721.8_Missense_Mutation_p.K803N|CIZ1_ENST00000476727.2_5'Flank|CIZ1_ENST00000372954.1_Missense_Mutation_p.K752N|CIZ1_ENST00000372938.5_Missense_Mutation_p.K832N|CIZ1_ENST00000538431.1_Missense_Mutation_p.K858N|CIZ1_ENST00000357558.5_Missense_Mutation_p.K804N|CIZ1_ENST00000541172.1_Missense_Mutation_p.K731N	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	832					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TCTTGGCCGCCTTGTATTTCT	0.622																																																	0													54.0	58.0	57.0					9																	130928677		2155	4222	6377	SO:0001583	missense	0			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2496G>T	9.37:g.130928677C>A	ENSP00000377232:p.Lys832Asn		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.K858N	ENST00000393608.1	37	c.2574	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	13.85	2.358980	0.41801	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	4.45	3.34	0.38264	.	0.112315	0.40554	N	0.001066	T	0.75664	0.3880	L	0.36672	1.1	0.36557	D	0.87218	D;P;P;D;P;P;B	0.71674	0.988;0.714;0.811;0.998;0.714;0.473;0.404	D;B;P;D;B;B;B	0.80764	0.958;0.404;0.554;0.994;0.351;0.188;0.204	T	0.77011	-0.2746	10	0.46703	T	0.11	-35.2843	5.8667	0.18779	0.0:0.8068:0.0:0.1932	.	858;771;776;752;832;803;804	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	N	752;832;858;804;803;771;731;804;776;832;754	ENSP00000362045:K752N;ENSP00000377232:K832N;ENSP00000439244:K858N;ENSP00000350169:K804N;ENSP00000320374:K803N;ENSP00000445057:K731N;ENSP00000277465:K804N;ENSP00000362039:K776N;ENSP00000362029:K832N;ENSP00000398011:K754N	ENSP00000277465:K804N	K	-	3	2	CIZ1	129968498	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	0.735000	0.26115	1.121000	0.41925	0.561000	0.74099	AAG	CIZ1	-	NULL	ENSG00000148337		0.622	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	-	0.00	159	0	C	NM_012127		130928677	-1	tier1	-	no_errors	ENST00000538431	ensembl	human	known	74_37	missense	16.67	120	24	SNP	1.000	A
CLCC1	23155	genome.wustl.edu	37	1	109482717	109482717	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:109482717A>G	ENST00000369971.2	-	8	973	c.844T>C	c.(844-846)Tac>Cac	p.Y282H	CLCC1_ENST00000369969.2_Missense_Mutation_p.Y161H|CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000356970.2_Missense_Mutation_p.Y282H|CLCC1_ENST00000415331.1_Missense_Mutation_p.Y232H|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.Y232H|CLCC1_ENST00000302500.4_Missense_Mutation_p.Y161H|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369968.2_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	282						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AGCTCATAGTATTTTTGGCAT	0.343																																																	0													79.0	75.0	77.0					1																	109482717		2203	4300	6503	SO:0001583	missense	0			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.844T>C	1.37:g.109482717A>G	ENSP00000358988:p.Tyr282His		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.Y282H	ENST00000369971.2	37	c.844	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638069	0.87760	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369970;ENST00000302500	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.986;0.999;1.0	T	0.77955	-0.2393	10	0.87932	D	0	-10.0307	15.3709	0.74564	1.0:0.0:0.0:0.0	.	161;232;282	Q96S66-3;Q96S66-2;Q96S66	.;.;CLCC1_HUMAN	H	282;282;232;161;232;161	ENSP00000349456:Y282H;ENSP00000358988:Y282H;ENSP00000411591:Y232H;ENSP00000358986:Y161H;ENSP00000358987:Y232H;ENSP00000306552:Y161H	ENSP00000306552:Y161H	Y	-	1	0	CLCC1	109284240	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.879000	0.92398	2.034000	0.60081	0.477000	0.44152	TAC	CLCC1	-	pfam_Chloride_chnl_CLIC-like	ENSG00000121940		0.343	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	-	0.00	59	0	A	NM_015127		109482717	-1	tier1	-	no_errors	ENST00000356970	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	G
CLCF1	23529	genome.wustl.edu	37	11	67132695	67132695	+	Missense_Mutation	SNP	C	C	T	rs104894203		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:67132695C>T	ENST00000312438.7	-	3	787	c.590G>A	c.(589-591)cGc>cAc	p.R197H	CLCF1_ENST00000528474.1_Missense_Mutation_p.R187H|RN7SKP239_ENST00000364814.1_RNA|CLCF1_ENST00000533438.1_Missense_Mutation_p.R187H|AP003419.11_ENST00000543494.1_RNA	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	197			R -> L (in CISS2; incapacity to bind CNTFR alpha; heterozygous compound with a nonsense mutation). {ECO:0000269|PubMed:16782820}.		B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CTTGGCCGAGCGCCACAGCCA	0.602																																																	0			GRCh37	CM066008	CLCF1	M	rs104894203						46.0	40.0	42.0					11																	67132695		2200	4295	6495	SO:0001583	missense	0			BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"""B-cell stimulating factor 3"", ""cold-induced sweating syndrome 2"", ""novel neurotrophin-1"""	607672	"""CRLF1 associated cytokine-like factor 1"""			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.590G>A	11.37:g.67132695C>T	ENSP00000309338:p.Arg197His		B4DNT4|Q6NZA4	Missense_Mutation	SNP	pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core	p.R197H	ENST00000312438.7	37	c.590	CCDS31617.1	11	.	.	.	.	.	.	.	.	.	.	c	23.0	4.362424	0.82353	.	.	ENSG00000175505	ENST00000312438;ENST00000533438;ENST00000528474	T;T;T	0.76448	-1.02;-1.02;-1.02	4.67	4.67	0.58626	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.067563	0.64402	D	0.000018	D	0.85362	0.5679	L	0.50333	1.59	0.53005	D	0.999965	D	0.89917	1.0	D	0.87578	0.998	D	0.87173	0.2222	10	0.87932	D	0	-15.4686	17.5836	0.87974	0.0:1.0:0.0:0.0	.	197	Q9UBD9	CLCF1_HUMAN	H	197;187;187	ENSP00000309338:R197H;ENSP00000434122:R187H;ENSP00000432553:R187H	ENSP00000309338:R197H	R	-	2	0	CLCF1	66889271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.003000	0.63959	2.320000	0.78422	0.556000	0.70494	CGC	CLCF1	-	pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core	ENSG00000175505		0.602	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCF1	HGNC	protein_coding	OTTHUMT00000395478.1		0.00	49	0	C	NM_013246		67132695	-1			no_errors	ENST00000312438	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	T
CLCN2	1181	genome.wustl.edu	37	3	184075198	184075198	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:184075198A>C	ENST00000265593.4	-	8	1021	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V	CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000457512.1_Missense_Mutation_p.F284V|CLCN2_ENST00000434054.2_Missense_Mutation_p.F240V|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.F284V|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	284					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AAGGCACTGAAGGTGGCAGCG	0.637																																																	0													71.0	80.0	77.0					3																	184075198		2203	4300	6503	SO:0001583	missense	0			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.850T>G	3.37:g.184075198A>C	ENSP00000265593:p.Phe284Val		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.F284V	ENST00000265593.4	37	c.850	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	a	16.45	3.127206	0.56721	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	5.53	5.53	0.82687	Chloride channel, core (2);	0.049698	0.85682	D	0.000000	D	0.85487	0.5708	N	0.03224	-0.385	0.80722	D	1	P;P;B;B;P	0.50369	0.624;0.934;0.412;0.36;0.888	B;P;B;B;P	0.48598	0.304;0.583;0.164;0.102;0.528	D	0.87679	0.2546	10	0.40728	T	0.16	-24.8274	14.6425	0.68737	1.0:0.0:0.0:0.0	.	284;240;284;284;284	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	V	284;284;240;284	ENSP00000265593:F284V;ENSP00000345056:F284V;ENSP00000400425:F240V;ENSP00000391928:F284V	ENSP00000265593:F284V	F	-	1	0	CLCN2	185557892	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.003000	0.63959	2.099000	0.63709	0.459000	0.35465	TTC	CLCN2	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000114859		0.637	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	-	0.00	73	0	A			184075198	-1	tier1	-	no_errors	ENST00000265593	ensembl	human	known	74_37	missense	16.67	49	10	SNP	1.000	C
CLCN6	1185	genome.wustl.edu	37	1	11883833	11883833	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:11883833G>A	ENST00000346436.6	+	7	575	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.V175I|CLCN6_ENST00000312413.6_Missense_Mutation_p.V175I|CLCN6_ENST00000376487.3_Missense_Mutation_p.V153I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	175					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGGAATCGTCCGTCTCCG	0.547																																																	0													127.0	108.0	114.0					1																	11883833		2203	4300	6503	SO:0001583	missense	0			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.523G>A	1.37:g.11883833G>A	ENSP00000234488:p.Val175Ile		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.V175I	ENST00000346436.6	37	c.523	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.094498	0.94149	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.97	5.97	0.96955	Chloride channel, core (2);	0.053496	0.85682	D	0.000000	D	0.95201	0.8444	M	0.70595	2.14	0.58432	D	0.99999	P;D;D;D;P	0.67145	0.912;0.985;0.992;0.996;0.929	B;B;P;P;B	0.54431	0.173;0.352;0.752;0.683;0.265	D	0.94929	0.8080	10	0.56958	D	0.05	-40.3584	17.5798	0.87963	0.0:0.0:1.0:0.0	.	153;175;175;175;175	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	I	175;175;153;175;175;175;175	ENSP00000308367:V175I;ENSP00000234488:V175I;ENSP00000365670:V153I;ENSP00000365679:V175I	ENSP00000308367:V175I	V	+	1	0	CLCN6	11806420	1.000000	0.71417	0.979000	0.43373	0.934000	0.57294	9.459000	0.97638	2.828000	0.97474	0.655000	0.94253	GTC	CLCN6	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000011021		0.547	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	-	0.00	98	0	G	NM_001286		11883833	+1	tier1	-	no_errors	ENST00000346436	ensembl	human	known	74_37	missense	10.67	67	8	SNP	1.000	A
CLDN2	9075	genome.wustl.edu	37	X	106171568	106171568	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:106171568G>A	ENST00000541806.1	+	2	629	c.110G>A	c.(109-111)gGt>gAt	p.G37D	CLDN2_ENST00000540876.1_Missense_Mutation_p.G37D|CLDN2_ENST00000336803.1_Missense_Mutation_p.G37D	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	37					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCTTATGTCGGTGCCAGCATT	0.547																																																	0													101.0	85.0	90.0					X																	106171568		2203	4300	6503	SO:0001583	missense	0			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.110G>A	X.37:g.106171568G>A	ENSP00000441283:p.Gly37Asp		B2R6B9	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14	p.G37D	ENST00000541806.1	37	c.110	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770569	0.69992	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.90069	-2.61;-2.61;-2.61	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.93044	0.7786	M	0.62209	1.925	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.92715	0.6186	10	0.45353	T	0.12	.	15.8745	0.79151	0.0:0.0:1.0:0.0	.	37	P57739	CLD2_HUMAN	D	37	ENSP00000441283:G37D;ENSP00000443230:G37D;ENSP00000336571:G37D	ENSP00000336571:G37D	G	+	2	0	CLDN2	106058224	1.000000	0.71417	0.982000	0.44146	0.760000	0.43138	7.945000	0.87732	2.348000	0.79779	0.600000	0.82982	GGT	CLDN2	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14	ENSG00000165376		0.547	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN2	HGNC	protein_coding	OTTHUMT00000057815.1		0.00	40	0	G			106171568	+1			no_errors	ENST00000336803	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A
CLDN6	9074	genome.wustl.edu	37	16	3065455	3065456	+	Frame_Shift_Ins	INS	-	-	CC	rs536531302		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:3065455_3065456insCC	ENST00000396925.1	-	3	995_996	c.567_568insGG	c.(565-570)gggtccfs	p.S190fs	CLDN6_ENST00000328796.4_Frame_Shift_Ins_p.S190fs|TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	190					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCCCTGGGACCCCCCCGAGG	0.644																																																	0																																										SO:0001589	frameshift_variant	0			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.566_567dupGG	16.37:g.3065460_3065461dupCC	ENSP00000380131:p.Ser190fs		B3KQP9|D3DUA5	Frame_Shift_Ins	INS	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6	p.S189fs	ENST00000396925.1	37	c.568_567	CCDS10488.1	16																																																																																			CLDN6	-	prints_Claudin6	ENSG00000184697		0.644	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN6	HGNC	protein_coding	OTTHUMT00000250988.1		0.00	106	0	0	NM_021195		3065456	-1			no_errors	ENST00000328796	ensembl	human	known	74_37	frame_shift_ins	9.57	85	9	INS	0.016:0.007	CC
CLDN7	1366	genome.wustl.edu	37	17	7165359	7165359	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7165359C>A	ENST00000360325.7	-	1	438	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S	CLDN7_ENST00000538261.3_Missense_Mutation_p.A2S|CLDN7_ENST00000571881.2_Missense_Mutation_p.A2S|RP1-4G17.5_ENST00000577138.1_Missense_Mutation_p.A2S|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000397317.4_Missense_Mutation_p.A2S	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	2					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						CCCGAATTGGCCATTTCCGCC	0.617																																																	0													22.0	20.0	21.0					17																	7165359		2202	4299	6501	SO:0001583	missense	0			AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.4G>T	17.37:g.7165359C>A	ENSP00000353475:p.Ala2Ser		B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin7	p.A2S	ENST00000360325.7	37	c.4	CCDS11096.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.783344	0.96937	.	.	ENSG00000181885	ENST00000360325;ENST00000397317;ENST00000538261	D;D;D	0.87334	-2.1;-2.1;-2.24	5.03	5.03	0.67393	.	0.185876	0.46442	D	0.000292	D	0.92841	0.7723	M	0.76838	2.35	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.78314	0.987;0.991	D	0.93246	0.6630	10	0.62326	D	0.03	.	14.2115	0.65767	0.0:1.0:0.0:0.0	.	2;2	F5H496;O95471	.;CLD7_HUMAN	S	2	ENSP00000353475:A2S;ENSP00000396638:A2S;ENSP00000445131:A2S	ENSP00000353475:A2S	A	-	1	0	CLDN7	7106083	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.449000	0.66619	2.499000	0.84300	0.462000	0.41574	GCC	CLDN7	-	NULL	ENSG00000181885		0.617	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN7	HGNC	protein_coding	OTTHUMT00000440204.2	-	0.00	71	0	C	NM_001307		7165359	-1	tier1	-	no_errors	ENST00000360325	ensembl	human	known	74_37	missense	15.38	66	12	SNP	1.000	A
CLEC16A	23274	genome.wustl.edu	37	16	11272339	11272339	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:11272339C>A	ENST00000409790.1	+	24	3184	c.2954C>A	c.(2953-2955)cCt>cAt	p.P985H	CLEC16A_ENST00000381822.2_Missense_Mutation_p.P72H	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCTCGTCCCTGCCCGGCAG	0.637																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											61.0	74.0	70.0					16																	11272339		2157	4252	6409	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2954C>A	16.37:g.11272339C>A	ENSP00000387122:p.Pro985His			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.P985H	ENST00000409790.1	37	c.2954	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723149	0.68959	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.61859	0.07	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	L	0.27053	0.805	0.42111	D	0.991385	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.69939	-0.5009	10	0.87932	D	0	-17.1931	15.032	0.71713	0.0:1.0:0.0:0.0	.	72;985	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	H	985;985;72	ENSP00000387122:P985H	ENSP00000371244:P72H	P	+	2	0	CLEC16A	11179840	1.000000	0.71417	0.212000	0.23672	0.766000	0.43426	5.480000	0.66820	2.304000	0.77564	0.655000	0.94253	CCT	CLEC16A	-	NULL	ENSG00000038532		0.637	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	-	0.00	62	0	C	NM_015226		11272339	+1	tier1	-	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	17.31	43	9	SNP	0.992	A
CLEC18B	497190	genome.wustl.edu	37	16	74447571	74447571	+	Missense_Mutation	SNP	C	C	T	rs375757285		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:74447571C>T	ENST00000339953.5	-	4	581	c.460G>A	c.(460-462)Gtg>Atg	p.V154M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	154	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTGGCCCACACGAGCTACAGG	0.612																																																	0								C	MET/VAL	1,4395		0,1,2197	81.0	82.0	82.0		460	3.1	1.0	16		82	0,8594		0,0,4297	no	missense	CLEC18B	NM_001011880.2	21	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	154/456	74447571	1,12989	2198	4297	6495	SO:0001583	missense	0			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.460G>A	16.37:g.74447571C>T	ENSP00000341051:p.Val154Met		B4DF90	Missense_Mutation	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.V154M	ENST00000339953.5	37	c.460	CCDS32484.1	16	.	.	.	.	.	.	.	.	.	.	c	19.23	3.787574	0.70337	2.27E-4	0.0	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.19806	2.12	3.1	3.1	0.35709	CAP domain (3);	0.000000	0.64402	D	0.000001	T	0.51466	0.1676	M	0.92691	3.335	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.60627	-0.7226	10	0.87932	D	0	.	9.5605	0.39366	0.0:1.0:0.0:0.0	.	74;154;154	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	M	154;154;154;74	ENSP00000341051:V154M	ENSP00000268492:V154M	V	-	1	0	CLEC18B	73005072	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.905000	0.69893	1.571000	0.49722	0.537000	0.68136	GTG	CLEC18B	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000140839		0.612	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	HGNC	protein_coding	OTTHUMT00000434697.1		0.00	129	0	C	NM_001011880		74447571	-1			no_errors	ENST00000339953	ensembl	human	known	74_37	missense	8.94	112	11	SNP	1.000	T
CLEC9A	283420	genome.wustl.edu	37	12	10205421	10205424	+	Intron	DEL	TTTT	TTTT	-	rs375899502		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:10205421_10205424delTTTT	ENST00000355819.1	+	4	704				CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A						positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AGAGTTCATGTTTTTTTTTTTTTT	0.382																																																	0																																										SO:0001627	intron_variant	0				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.91+44TTTT>-	12.37:g.10205429_10205432delTTTT			B0ZBM2	RNA	DEL	-	NULL	ENST00000355819.1	37	NULL	CCDS8611.1	12																																																																																			CLEC9A	-	-	ENSG00000197992		0.382	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	HGNC	protein_coding	OTTHUMT00000399564.1		0.00	39	0	TTTT	NM_207345		10205424	+1	tier1		no_errors	ENST00000544751	ensembl	human	known	74_37	rna	16.13	26	5	DEL	0.000:0.000:0.008:0.006	-
CLGN	1047	genome.wustl.edu	37	4	141317358	141317358	+	Splice_Site	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:141317358C>A	ENST00000325617.5	-	9	1326	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	CLGN_ENST00000414773.1_Splice_Site_p.D296Y|CLGN_ENST00000537281.1_Splice_Site_p.D296Y	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	296					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.D296N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCACTTTCATCCCTGTAAATA	0.338																																																	1	Substitution - Missense(1)	prostate(1)											140.0	132.0	135.0					4																	141317358		2203	4300	6503	SO:0001630	splice_region_variant	0			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.885-1G>T	4.37:g.141317358C>A			B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	p.D296Y	ENST00000325617.5	37	c.886	CCDS3751.1	4	.	.	.	.	.	.	.	.	.	.	c	27.3	4.816231	0.90790	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.57273	0.41;0.41;0.41	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.83248	0.5213	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88182	0.2871	10	0.87932	D	0	-28.6323	20.143	0.98065	0.0:1.0:0.0:0.0	.	296	O14967	CLGN_HUMAN	Y	296;296;296;213	ENSP00000326699:D296Y;ENSP00000392782:D296Y;ENSP00000439381:D296Y	ENSP00000326699:D296Y	D	-	1	0	CLGN	141536808	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.773000	0.85462	2.763000	0.94921	0.550000	0.68814	GAT	CLGN	-	pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P_dom	ENSG00000153132		0.338	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLGN	HGNC	protein_coding	OTTHUMT00000257272.2	-	0.00	73	0	C	NM_004362	Missense_Mutation	141317358	-1	tier1	-	no_errors	ENST00000325617	ensembl	human	known	74_37	missense	12.66	69	10	SNP	1.000	A
CLINT1	9685	genome.wustl.edu	37	5	157236721	157236721	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:157236721G>T	ENST00000411809.2	-	6	814	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	CLINT1_ENST00000523908.1_Missense_Mutation_p.L204M|CLINT1_ENST00000523094.1_Missense_Mutation_p.L186M|RNU6-260P_ENST00000384092.1_RNA|CLINT1_ENST00000296951.5_Missense_Mutation_p.L186M|CLINT1_ENST00000530742.1_Missense_Mutation_p.L186M	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	204					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTATCACTCAGCTCACCTAAT	0.398																																					Colon(22;427 587 2170 6147 14291)												0													152.0	139.0	143.0					5																	157236721		1872	4106	5978	SO:0001583	missense	0			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.610C>A	5.37:g.157236721G>T	ENSP00000388340:p.Leu204Met		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.L186M	ENST00000411809.2	37	c.556	CCDS47330.1	5	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853730	0.71719	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.95	5.95	0.96441	.	0.056600	0.64402	D	0.000003	T	0.44244	0.1284	L	0.44542	1.39	0.43417	D	0.99556	D;P	0.56035	0.974;0.943	P;P	0.48166	0.569;0.466	T	0.23261	-1.0193	10	0.44086	T	0.13	-8.8767	15.1469	0.72662	0.0:0.0:0.8588:0.1412	.	204;204	B7Z6F8;Q14677	.;EPN4_HUMAN	M	186;186;204;186;204	ENSP00000429345:L186M;ENSP00000433419:L186M;ENSP00000388340:L204M;ENSP00000296951:L186M;ENSP00000429824:L204M	ENSP00000296951:L186M	L	-	1	2	CLINT1	157169299	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.717000	0.68446	2.824000	0.97209	0.655000	0.94253	CTG	CLINT1	-	NULL	ENSG00000113282		0.398	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	HGNC	protein_coding	OTTHUMT00000374001.1	-	0.00	54	0	G	NM_014666		157236721	-1	tier1	-	no_errors	ENST00000296951	ensembl	human	known	74_37	missense	11.76	60	8	SNP	1.000	T
CLIP1	6249	genome.wustl.edu	37	12	122848621	122848621	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:122848621G>T	ENST00000540338.1	-	3	732	c.691C>A	c.(691-693)Ctt>Att	p.L231I	CLIP1_ENST00000545889.1_5'Flank|CLIP1_ENST00000537178.1_Missense_Mutation_p.L231I|CLIP1_ENST00000302528.7_Missense_Mutation_p.L231I|CLIP1_ENST00000358808.2_Missense_Mutation_p.L231I|CLIP1_ENST00000361654.4_Missense_Mutation_p.L231I			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	231					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTCTCCCCAAGAAACCGGACT	0.488																																																	0													124.0	92.0	103.0					12																	122848621		2203	4300	6503	SO:0001583	missense	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.691C>A	12.37:g.122848621G>T	ENSP00000439093:p.Leu231Ile		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.L231I	ENST00000540338.1	37	c.691	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687050	0.48097	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.81	4.9	0.64082	Cytoskeleton-associated protein, Gly-rich domain (3);	0.000000	0.85682	D	0.000000	D	0.89574	0.6754	N	0.11818	0.18	0.80722	D	1	D;D;D;P	0.61697	0.973;0.981;0.99;0.795	D;D;D;D	0.87578	0.951;0.998;0.996;0.946	D	0.89343	0.3655	10	0.40728	T	0.16	-8.4099	11.8325	0.52303	0.0677:0.1237:0.8086:0.0	.	231;231;231;231	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	I	231;231;76;231;231;231;231	ENSP00000303585:L231I;ENSP00000351665:L231I;ENSP00000445531:L231I;ENSP00000439093:L231I;ENSP00000437786:L231I;ENSP00000441409:L231I	ENSP00000303585:L231I	L	-	1	0	CLIP1	121414574	1.000000	0.71417	0.996000	0.52242	0.616000	0.37450	5.250000	0.65432	1.403000	0.46800	0.557000	0.71058	CTT	CLIP1	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain	ENSG00000130779		0.488	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	-	0.00	65	0	G	NM_002956		122848621	-1	tier1	-	no_errors	ENST00000540338	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.999	T
CLIP4	79745	genome.wustl.edu	37	2	29412372	29412372	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:29412372G>A	ENST00000401617.2	+	16	2025	c.1617G>A	c.(1615-1617)acG>acA	p.T539T				Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	0	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTAGGATTACGGGAATGCTGG	0.373																																																	0																																										SO:0001819	synonymous_variant	0			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000401617.2:c.1617G>A	2.37:g.29412372G>A			A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.T539	ENST00000401617.2	37	c.1617		2																																																																																			CLIP4	-	NULL	ENSG00000115295		0.373	CLIP4-004	PUTATIVE	not_organism_supported|basic	protein_coding	CLIP4	HGNC	protein_coding	OTTHUMT00000324914.2	-	0.00	89	0	G	NM_024692		29412372	+1	tier1	-	no_errors	ENST00000401617	ensembl	human	putative	74_37	silent	15.71	59	11	SNP	0.000	A
CLPSL1	340204	genome.wustl.edu	37	6	35754851	35754851	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35754851C>T	ENST00000373861.5	+	2	270	c.176C>T	c.(175-177)tCg>tTg	p.S59L	CLPSL1_ENST00000542261.1_Missense_Mutation_p.S58L			A2RUU4	COLL1_HUMAN	colipase-like 1	59					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										AATTGCGAGTCGCACTGCGCG	0.657																																																	0													24.0	32.0	30.0					6																	35754851		2156	4260	6416	SO:0001583	missense	0				CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 127"""	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.176C>T	6.37:g.35754851C>T	ENSP00000362968:p.Ser59Leu		A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Missense_Mutation	SNP	smart_Colipase,prints_Colipase	p.S59L	ENST00000373861.5	37	c.176	CCDS43456.1	6	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251255	0.22880	.	.	ENSG00000204140	ENST00000373861;ENST00000373860;ENST00000542261;ENST00000428710	T;T	0.34667	1.35;1.35	2.15	0.327	0.15913	.	0.350112	0.15988	U	0.234988	T	0.10035	0.0246	L	0.38175	1.15	0.09310	N	1	B	0.29909	0.261	B	0.29077	0.098	T	0.19192	-1.0313	10	0.62326	D	0.03	.	4.7078	0.12858	0.0:0.6971:0.0:0.3029	.	59	A2RUU4	CF127_HUMAN	L	59;59;58;12	ENSP00000362968:S59L;ENSP00000438478:S58L	ENSP00000362967:S59L	S	+	2	0	C6orf127	35862829	0.000000	0.05858	0.005000	0.12908	0.446000	0.32137	-0.082000	0.11304	0.077000	0.16863	0.460000	0.39030	TCG	CLPSL1	-	smart_Colipase,prints_Colipase	ENSG00000204140		0.657	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLPSL1	HGNC	protein_coding	OTTHUMT00000040317.2	-	0.00	129	0	C	NM_001010886		35754851	+1	tier1	-	no_errors	ENST00000373861	ensembl	human	known	74_37	missense	9.49	124	13	SNP	0.005	T
CLSTN3	9746	genome.wustl.edu	37	12	7309000	7309000	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:7309000G>A	ENST00000266546.6	+	17	2977				CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Intron	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3						homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGCCCTCACGGCCCACGTCTG	0.592																																																	0																																										SO:0001627	intron_variant	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2528-1085G>A	12.37:g.7309000G>A			D3DUT6|O94831|Q2T9J5|Q5UE57	RNA	SNP	-	NULL	ENST00000266546.6	37	NULL	CCDS8575.1	12																																																																																			CLSTN3	-	-	ENSG00000139182		0.592	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	-	0.00	46	0	G	NM_014718		7309000	+1	tier1	-	no_errors	ENST00000331148	ensembl	human	known	74_37	rna	18.75	26	6	SNP	0.001	A
CLSTN3	9746	genome.wustl.edu	37	12	7310658	7310658	+	Frame_Shift_Del	DEL	C	C	-	rs79149590	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:7310658delC	ENST00000266546.6	+	18	3302	c.2852delC	c.(2851-2853)accfs	p.T951fs	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Frame_Shift_Del_p.T963fs	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	951					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ATCATCGAGACCCCCCCACAC	0.617																																																	0													64.0	47.0	52.0					12																	7310658		2157	4183	6340	SO:0001589	frameshift_variant	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2852delC	12.37:g.7310658delC	ENSP00000266546:p.Thr951fs		D3DUT6|O94831|Q2T9J5|Q5UE57	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P953fs	ENST00000266546.6	37	c.2852	CCDS8575.1	12																																																																																			CLSTN3	-	NULL	ENSG00000139182		0.617	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2		0.00	30	0	C	NM_014718		7310658	+1	tier1		no_errors	ENST00000266546	ensembl	human	known	74_37	frame_shift_del	28.12	23	9	DEL	0.088	-
CLVS1	157807	genome.wustl.edu	37	8	62412295	62412295	+	3'UTR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:62412295delT	ENST00000519846.1	+	0	1731				CLVS1_ENST00000325897.4_3'UTR|CLVS1_ENST00000518592.1_3'UTR|CLVS1_ENST00000518858.1_3'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1						lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGAGAGATGCTTTTTTTTTCC	0.438																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.*194T>-	8.37:g.62412295delT			B2R7M5|C8UZT3|Q8NB32	RNA	DEL	-	NULL	ENST00000519846.1	37	NULL	CCDS6176.1	8																																																																																			CLVS1	-	-	ENSG00000177182		0.438	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	HGNC	protein_coding	OTTHUMT00000378323.1		0.00	37	0	T	NM_173519		62412295	+1	tier1		no_errors	ENST00000518858	ensembl	human	known	74_37	rna	24.49	37	12	DEL	0.005	-
CMA1	1215	genome.wustl.edu	37	14	24975364	24975364	+	Missense_Mutation	SNP	G	G	A	rs139700002	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:24975364G>A	ENST00000250378.3	-	4	499	c.470C>T	c.(469-471)cCg>cTg	p.P157L	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.P46L	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	157	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GTCTGAGCCCGGCTTCAACAC	0.577																																																	0													61.0	54.0	57.0					14																	24975364		2203	4300	6503	SO:0001583	missense	0				CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.470C>T	14.37:g.24975364G>A	ENSP00000250378:p.Pro157Leu		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P157L	ENST00000250378.3	37	c.470	CCDS9630.1	14	.	.	.	.	.	.	.	.	.	.	G	8.543	0.873686	0.17322	.	.	ENSG00000092009	ENST00000250378;ENST00000206446	T;T	0.58652	0.32;0.32	5.37	2.5	0.30297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.769745	0.11804	N	0.527823	T	0.37999	0.1024	N	0.17631	0.505	0.09310	N	0.999999	B	0.28208	0.203	B	0.27076	0.076	T	0.27839	-1.0062	10	0.49607	T	0.09	.	4.0423	0.09756	0.0861:0.16:0.5881:0.1658	.	157	P23946	CMA1_HUMAN	L	157;46	ENSP00000250378:P157L;ENSP00000206446:P46L	ENSP00000206446:P46L	P	-	2	0	CMA1	24045204	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.802000	0.27069	0.377000	0.24735	0.655000	0.94253	CCG	CMA1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000092009		0.577	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMA1	HGNC	protein_coding	OTTHUMT00000276535.2	-	0.00	37	0	G			24975364	-1	tier1	-	no_errors	ENST00000250378	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.000	A
CMTM1	113540	genome.wustl.edu	37	16	66612868	66612868	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:66612868C>T	ENST00000457188.2	+	4	595	c.474C>T	c.(472-474)ccC>ccT	p.P158P	CMTM1_ENST00000328020.6_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CMTM1_ENST00000336328.6_Silent_p.P105P|CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000533953.1_Silent_p.P227P|CMTM2_ENST00000379486.2_5'Flank|CMTM1_ENST00000332695.7_Silent_p.P111P|RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000268595.2_5'Flank|CKLF-CMTM1_ENST00000527729.1_Silent_p.P104P|CMTM1_ENST00000529506.1_Silent_p.P59P|CMTM1_ENST00000379500.2_Silent_p.P275P|CMTM1_ENST00000528324.1_3'UTR	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	158					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		ACGCCTACCCCGAAACCGGCC	0.632																																																	0													68.0	70.0	69.0					16																	66612868		2201	4300	6501	SO:0001819	synonymous_variant	0			AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.474C>T	16.37:g.66612868C>T			Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	NULL	p.P111	ENST00000457188.2	37	c.333	CCDS45503.1	16																																																																																			CMTM1	-	NULL	ENSG00000089505		0.632	CMTM1-015	NOVEL	basic|CCDS	protein_coding	CMTM1	HGNC	protein_coding	OTTHUMT00000390261.2	-	0.00	39	0	C	NM_052999		66612868	+1	tier1	-	no_errors	ENST00000332695	ensembl	human	known	74_37	silent	20.51	31	8	SNP	0.000	T
CNBD2	140894	genome.wustl.edu	37	20	34599098	34599098	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:34599098T>C	ENST00000373973.3	+	10	1361	c.1188T>C	c.(1186-1188)aaT>aaC	p.N396N	CNBD2_ENST00000538900.1_Silent_p.N396N|CNBD2_ENST00000349339.1_Silent_p.N396N			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	396																	CCATGATCAATATCAAGCCTG	0.537																																																	0													85.0	76.0	79.0					20																	34599098		2203	4300	6503	SO:0001819	synonymous_variant	0			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1188T>C	20.37:g.34599098T>C			Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.N396	ENST00000373973.3	37	c.1188		20																																																																																			CNBD2	-	superfamily_cNMP-bd-like	ENSG00000149646		0.537	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2		0.00	54	0	T	NM_080834		34599098	+1			no_errors	ENST00000373973	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.000	C
CNNM1	26507	genome.wustl.edu	37	10	101117391	101117391	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:101117391C>A	ENST00000356713.4	+	2	1985	c.1696C>A	c.(1696-1698)Ctg>Atg	p.L566M	CNNM1_ENST00000370528.3_Missense_Mutation_p.L495M|CNNM1_ENST00000446890.1_Missense_Mutation_p.L495M|CNNM1_ENST00000370534.4_Missense_Mutation_p.L201M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	566	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GTCGGAGATCCTGGATGAAAC	0.473																																																	0													92.0	79.0	83.0					10																	101117391		2203	4300	6503	SO:0001583	missense	0			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1696C>A	10.37:g.101117391C>A	ENSP00000349147:p.Leu566Met		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	pfam_DUF21,pfam_CBS_dom	p.L566M	ENST00000356713.4	37	c.1696	CCDS7478.2	10	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769018	0.69992	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.7	5.7	0.88788	Cystathionine beta-synthase, core (1);	0.073162	0.56097	D	0.000030	T	0.50548	0.1622	N	0.21142	0.635	0.52099	D	0.999949	P;D;B;P	0.60160	0.842;0.987;0.44;0.892	P;P;B;P	0.61592	0.67;0.891;0.279;0.519	T	0.49799	-0.8901	10	0.49607	T	0.09	-25.3609	19.8242	0.96610	0.0:1.0:0.0:0.0	.	201;566;201;566	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	M	566;495;495;201;19	ENSP00000349147:L566M;ENSP00000406492:L495M;ENSP00000359559:L495M;ENSP00000359565:L201M	ENSP00000349147:L566M	L	+	1	2	CNNM1	101107381	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.270000	0.43355	2.684000	0.91462	0.655000	0.94253	CTG	CNNM1	-	NULL	ENSG00000119946		0.473	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	-	0.00	79	0	C	NM_020348		101117391	+1	tier1	-	no_errors	ENST00000356713	ensembl	human	known	74_37	missense	18.75	65	15	SNP	1.000	A
CNOT1	23019	genome.wustl.edu	37	16	58559970	58559970	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:58559970A>G	ENST00000317147.5	-	45	6858	c.6526T>C	c.(6526-6528)Ttc>Ctc	p.F2176L	CNOT1_ENST00000569240.1_Missense_Mutation_p.F2171L|CNOT1_ENST00000245138.4_Missense_Mutation_p.F1027L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2176					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCCTTTTTGAACTGAGGTGGC	0.418																																																	0													158.0	154.0	155.0					16																	58559970		2198	4300	6498	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6526T>C	16.37:g.58559970A>G	ENSP00000320949:p.Phe2176Leu		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.F2176L	ENST00000317147.5	37	c.6526	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893456	0.72639	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.35236	1.32	5.92	5.92	0.95590	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	N	0.12920	0.275	0.80722	D	1	B;B;B	0.26775	0.15;0.047;0.159	B;B;B	0.29942	0.039;0.042;0.109	T	0.06643	-1.0815	10	0.02654	T	1	-11.8458	15.5467	0.76108	1.0:0.0:0.0:0.0	.	1027;2176;2171	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	L	2176;870;181;1027	ENSP00000320949:F2176L	ENSP00000245138:F1027L	F	-	1	0	CNOT1	57117471	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.110000	0.94302	2.257000	0.74773	0.455000	0.32223	TTC	CNOT1	-	pfam_CCR4-Not_Not1_C	ENSG00000125107		0.418	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0.00	41	0	A	NM_016284		58559970	-1	tier1	-	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	G
CNOT1	23019	genome.wustl.edu	37	16	58577316	58577317	+	Intron	DEL	AA	AA	-	rs74558612|rs201890659|rs5817153	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:58577316_58577317delAA	ENST00000317147.5	-	31	4767				CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.F1543fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		aatataacagaaaaaaaaaaaa	0.282																																																	0																																										SO:0001627	intron_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+193TT>-	16.37:g.58577326_58577327delAA			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.F1543fs	ENST00000317147.5	37	c.4629_4628	CCDS10799.1	16																																																																																			CNOT1	-	NULL	ENSG00000125107		0.282	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3		0.00	56	0	AA	NM_016284		58577317	-1	tier1		no_errors	ENST00000441024	ensembl	human	known	74_37	frame_shift_del	12.96	47	7	DEL	0.000:0.000	-
CNPY4	245812	genome.wustl.edu	37	7	99720418	99720418	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:99720418G>T	ENST00000262932.3	+	4	486	c.354G>T	c.(352-354)caG>caT	p.Q118H	TAF6_ENST00000437822.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	118						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCAGAGTCAGACCATGGCAA	0.547																																																	0													67.0	60.0	62.0					7																	99720418		2203	4300	6503	SO:0001583	missense	0			AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.354G>T	7.37:g.99720418G>T	ENSP00000262932:p.Gln118His		Q8WUN9	Missense_Mutation	SNP	pfam_DUF3456	p.Q118H	ENST00000262932.3	37	c.354	CCDS34701.1	7	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600583	0.66332	.	.	ENSG00000166997	ENST00000262932	T	0.37058	1.22	5.63	4.75	0.60458	.	0.125167	0.56097	D	0.000039	T	0.55146	0.1902	M	0.70595	2.14	0.50171	D	0.99985	D	0.71674	0.998	D	0.66979	0.948	T	0.57493	-0.7802	10	0.56958	D	0.05	-23.7711	10.695	0.45894	0.0879:0.0:0.9121:0.0	.	118	Q8N129	CNPY4_HUMAN	H	118	ENSP00000262932:Q118H	ENSP00000262932:Q118H	Q	+	3	2	CNPY4	99558354	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.761000	0.62243	1.383000	0.46405	-0.291000	0.09656	CAG	CNPY4	-	pfam_DUF3456	ENSG00000166997		0.547	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY4	HGNC	protein_coding	OTTHUMT00000337224.4	-	0.00	40	0	G	NM_152755		99720418	+1	tier1	-	no_errors	ENST00000262932	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	T
CNTD2	79935	genome.wustl.edu	37	19	40729296	40729297	+	Splice_Site	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:40729296_40729297insG	ENST00000430325.2	-	4	718_719	c.670_671insC	c.(670-672)cag>cCag	p.Q224fs	CNTD2_ENST00000513948.1_Splice_Site_p.Q118fs	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	224					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						AGGGCTCACCTGGGGGCTGCTC	0.718																																																	0																																										SO:0001630	splice_region_variant	0			AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.672+1->C	19.37:g.40729301_40729301dupG			B4DX65	Frame_Shift_Ins	INS	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.Q224fs	ENST00000430325.2	37	c.671_670	CCDS12551.2	19																																																																																			CNTD2	-	superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000105219		0.718	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD2	HGNC	protein_coding	OTTHUMT00000360785.1		0.00	24	0	-	NM_024877	Frame_Shift_Ins	40729297	-1	tier1		no_errors	ENST00000430325	ensembl	human	known	74_37	frame_shift_ins	17.24	24	5	INS	0.849:0.810	G
CNTLN	54875	genome.wustl.edu	37	9	17457611	17457611	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:17457611A>G	ENST00000380647.3	+	19	3288	c.3204A>G	c.(3202-3204)gcA>gcG	p.A1068A	CNTLN_ENST00000262360.5_Silent_p.A1068A|CNTLN_ENST00000425824.1_Silent_p.A1068A			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1068					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAAGTTTGGCAGAAGAAAATT	0.353																																																	0													80.0	78.0	79.0					9																	17457611		1810	4078	5888	SO:0001819	synonymous_variant	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3204A>G	9.37:g.17457611A>G			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	superfamily_Prefoldin	p.A1068	ENST00000380647.3	37	c.3204	CCDS43789.1	9																																																																																			CNTLN	-	NULL	ENSG00000044459		0.353	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	-	0.00	134	0	A	NM_017738		17457611	+1	tier1	-	no_errors	ENST00000380647	ensembl	human	known	74_37	silent	24.26	103	33	SNP	0.998	G
CNTLN	54875	genome.wustl.edu	37	9	17484318	17484318	+	Missense_Mutation	SNP	A	A	G	rs377637450		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:17484318A>G	ENST00000380647.3	+	24	3965	c.3881A>G	c.(3880-3882)gAt>gGt	p.D1294G	CNTLN_ENST00000262360.5_Missense_Mutation_p.D1294G|CNTLN_ENST00000425824.1_Missense_Mutation_p.D1294G			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1294					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTGCAAAATGATGTCCATGTG	0.363																																																	0													118.0	116.0	117.0					9																	17484318		1853	4101	5954	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3881A>G	9.37:g.17484318A>G	ENSP00000370021:p.Asp1294Gly		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.D1294G	ENST00000380647.3	37	c.3881	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230785	0.58777	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.19669	2.13;2.13;2.39	5.7	5.7	0.88788	Signal transduction histidine kinase, subgroup 1, dimerisation/phosphoacceptor domain (1);	.	.	.	.	T	0.27832	0.0685	M	0.65975	2.015	0.35774	D	0.821145	P;P;P	0.46859	0.885;0.675;0.675	P;B;B	0.45753	0.492;0.218;0.164	T	0.37056	-0.9722	9	0.36615	T	0.2	.	10.627	0.45512	0.9195:0.0:0.0805:0.0	.	1294;1294;1294	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	G	1294	ENSP00000370021:D1294G;ENSP00000392798:D1294G;ENSP00000262360:D1294G	ENSP00000262360:D1294G	D	+	2	0	CNTLN	17474318	1.000000	0.71417	0.975000	0.42487	0.527000	0.34593	4.014000	0.57145	2.167000	0.68274	0.528000	0.53228	GAT	CNTLN	-	NULL	ENSG00000044459		0.363	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	-	0.00	48	0	A	NM_017738		17484318	+1	tier1	-	no_errors	ENST00000380647	ensembl	human	known	74_37	missense	13.56	51	8	SNP	0.997	G
CNTFR	1271	genome.wustl.edu	37	9	34557906	34557906	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:34557906G>T	ENST00000378980.3	-	5	689	c.396C>A	c.(394-396)ccC>ccA	p.P132P	CNTFR_ENST00000351266.4_Silent_p.P132P	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	132	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGGTGGGGGTGGGCAGATGCC	0.627																																																	0													91.0	94.0	93.0					9																	34557906		2203	4300	6503	SO:0001819	synonymous_variant	0			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.396C>A	9.37:g.34557906G>T			Q5U050	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P132	ENST00000378980.3	37	c.396	CCDS6558.1	9																																																																																			CNTFR	-	superfamily_Fibronectin_type3	ENSG00000122756		0.627	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNTFR	HGNC	protein_coding	OTTHUMT00000052176.1	-	0.00	102	0	G			34557906	-1	tier1	-	no_errors	ENST00000351266	ensembl	human	known	74_37	silent	14.93	57	10	SNP	0.984	T
CNTN3	5067	genome.wustl.edu	37	3	74313552	74313552	+	Stop_Codon_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:74313552delT	ENST00000263665.6	-	0	3114				CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGAGTTAATATCACCACAGGA	0.333																																																	0													88.0	83.0	85.0					3																	74313552		2203	4299	6502	SO:0001567	stop_retained_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	Exception_encountered	3.37:g.74313552delT	Exception_encountered		B9EK50|Q9H039	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.*1029fs	ENST00000263665.6	37	c.3087	CCDS33790.1	3																																																																																			CNTN3	-	NULL	ENSG00000113805		0.333	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1		0.00	60	0	T	NM_020872		74313552	-1	tier1		no_errors	ENST00000263665	ensembl	human	known	74_37	frame_shift_del	15.62	54	10	DEL	0.982	-
CNTN5	53942	genome.wustl.edu	37	11	99690293	99690293	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:99690293C>A	ENST00000524871.1	+	4	364	c.74C>A	c.(73-75)cCt>cAt	p.P25H	CNTN5_ENST00000279463.3_Missense_Mutation_p.P25H|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.P25H|CNTN5_ENST00000527185.1_Missense_Mutation_p.P25H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	25					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAATCTCTTCCTGGTCTCTCC	0.328																																																	0													106.0	105.0	105.0					11																	99690293		1845	4077	5922	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.74C>A	11.37:g.99690293C>A	ENSP00000435637:p.Pro25His		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P25H	ENST00000524871.1	37	c.74	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	C	9.002	0.980262	0.18812	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.55930	0.49;0.56;0.56;0.56	5.2	4.28	0.50868	.	0.516056	0.19553	N	0.111504	T	0.41903	0.1179	N	0.19112	0.55	0.33602	D	0.602447	P;P	0.44309	0.832;0.832	B;B	0.42882	0.286;0.401	T	0.60203	-0.7309	10	0.87932	D	0	.	13.3599	0.60650	0.0:0.9231:0.0:0.0768	.	25;25	E9PKE8;O94779	.;CNTN5_HUMAN	H	25	ENSP00000433575:P25H;ENSP00000436185:P25H;ENSP00000435637:P25H;ENSP00000279463:P25H	ENSP00000279463:P25H	P	+	2	0	CNTN5	99195503	0.994000	0.37717	0.943000	0.38184	0.010000	0.07245	1.438000	0.35002	1.518000	0.48934	0.650000	0.86243	CCT	CNTN5	-	NULL	ENSG00000149972		0.328	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0.00	70	0	C	NM_014361		99690293	+1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	8.86	72	7	SNP	1.000	A
CNTNAP1	8506	genome.wustl.edu	37	17	40845373	40845373	+	Silent	SNP	C	C	T	rs143795143	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:40845373C>T	ENST00000264638.4	+	18	3028	c.2811C>T	c.(2809-2811)aaC>aaT	p.N937N	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	937	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCGTCTGAACGGAGTGACTC	0.602																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	116.0	112.0	113.0		2811	-7.3	0.7	17	dbSNP_134	113	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	CNTNAP1	NM_003632.2		0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769		937/1385	40845373	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2811C>T	17.37:g.40845373C>T				Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.N937	ENST00000264638.4	37	c.2811	CCDS11436.1	17																																																																																			CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.602	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	-	0.00	25	0	C	NM_003632		40845373	+1	tier1	rs143795143	no_errors	ENST00000264638	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.266	T
CNTNAP2	26047	genome.wustl.edu	37	7	148112873	148112873	+	3'UTR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:148112873delA	ENST00000361727.3	+	0	4677				CNTNAP2_ENST00000538075.1_3'UTR|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACTGATCACAAAAAAAAAAA	0.333										HNSCC(39;0.1)																																							0																																										SO:0001624	3_prime_UTR_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.*165A>-	7.37:g.148112873delA			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	RNA	DEL	-	NULL	ENST00000361727.3	37	NULL	CCDS5889.1	7																																																																																			CNTNAP2	-	-	ENSG00000174469		0.333	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1		0.00	73	0	A			148112873	+1	tier1		no_errors	ENST00000463592	ensembl	human	known	74_37	rna	37.29	37	22	DEL	0.048	-
CNTNAP4	85445	genome.wustl.edu	37	16	76555129	76555129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:76555129delT	ENST00000476707.1	+	15	2606	c.2467delT	c.(2467-2469)tttfs	p.F824fs	CNTNAP4_ENST00000478060.1_Frame_Shift_Del_p.F748fs|CNTNAP4_ENST00000307431.8_Frame_Shift_Del_p.F820fs|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Frame_Shift_Del_p.F772fs			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	821	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGTATCTTTCTTTTTTAAGAC	0.403																																																	0													230.0	218.0	222.0					16																	76555129		1817	4070	5887	SO:0001589	frameshift_variant	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2467delT	16.37:g.76555129delT	ENSP00000417628:p.Phe824fs		E9PFZ6|Q86YZ7	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F820fs	ENST00000476707.1	37	c.2455		16																																																																																			CNTNAP4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000152910		0.403	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1		0.00	61	0	T	NM_033401		76555129	+1	tier1		no_errors	ENST00000307431	ensembl	human	known	74_37	frame_shift_del	17.50	66	14	DEL	1.000	-
CNTNAP5	129684	genome.wustl.edu	37	2	125192203	125192203	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:125192203G>A	ENST00000431078.1	+	5	1036	c.672G>A	c.(670-672)caG>caA	p.Q224Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	224	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAGAAGGTCAGCGTGGAGACC	0.512																																																	0													80.0	81.0	81.0					2																	125192203		2094	4230	6324	SO:0001819	synonymous_variant	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.672G>A	2.37:g.125192203G>A			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Q224	ENST00000431078.1	37	c.672	CCDS46401.1	2																																																																																			CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.512	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0.00	37	0	G			125192203	+1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	silent	19.23	21	5	SNP	0.999	A
CNTROB	116840	genome.wustl.edu	37	17	7839717	7839717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7839717C>T	ENST00000563694.1	+	5	1553	c.628C>T	c.(628-630)Cga>Tga	p.R210*	CNTROB_ENST00000380255.3_Nonsense_Mutation_p.R210*|CNTROB_ENST00000380262.3_Nonsense_Mutation_p.R210*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.R210*	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	210					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCTGCAGACCCGAGTGTTAGA	0.512																																																	0													112.0	111.0	111.0					17																	7839717		2203	4300	6503	SO:0001587	stop_gained	0			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.628C>T	17.37:g.7839717C>T	ENSP00000456335:p.Arg210*		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Nonsense_Mutation	SNP	NULL	p.R210*	ENST00000563694.1	37	c.628	CCDS11126.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.197493	0.94960	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	.	.	.	5.85	5.85	0.93711	.	0.513743	0.17701	N	0.164914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3957	14.5407	0.67990	0.0:0.8534:0.1465:0.0	.	.	.	.	X	210	.	ENSP00000369605:R210X	R	+	1	2	CNTROB	7780442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.736000	0.47385	2.775000	0.95449	0.655000	0.94253	CGA	CNTROB	-	NULL	ENSG00000170037		0.512	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNTROB	HGNC	protein_coding	OTTHUMT00000421372.1	-	0.00	59	0	C	NM_053051		7839717	+1	tier1	-	no_errors	ENST00000380262	ensembl	human	known	74_37	nonsense	21.74	36	10	SNP	0.998	T
COG5	10466	genome.wustl.edu	37	7	107188598	107188598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:107188598G>T	ENST00000347053.3	-	5	518	c.468C>A	c.(466-468)taC>taA	p.Y156*	COG5_ENST00000393603.2_Nonsense_Mutation_p.Y156*|COG5_ENST00000297135.3_Nonsense_Mutation_p.Y156*|COG5_ENST00000475638.2_5'UTR	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	156					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTATCTTATTGTATGGTTCAA	0.308																																																	0													95.0	102.0	100.0					7																	107188598		2203	4300	6503	SO:0001587	stop_gained	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.468C>A	7.37:g.107188598G>T	ENSP00000334703:p.Tyr156*		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Nonsense_Mutation	SNP	pfam_Cog5	p.Y156*	ENST00000347053.3	37	c.468	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566312	0.86439	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	.	.	.	5.09	2.31	0.28768	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8953	7.954	0.30031	0.3268:0.0:0.6732:0.0	.	.	.	.	X	156	.	ENSP00000297135:Y156X	Y	-	3	2	COG5	106975834	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.565000	0.36386	0.262000	0.21774	0.655000	0.94253	TAC	COG5	-	pfam_Cog5	ENSG00000164597		0.308	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	-	0.00	74	0	G			107188598	-1	tier1	-	no_errors	ENST00000297135	ensembl	human	known	74_37	nonsense	5.19	73	4	SNP	1.000	T
COG6	57511	genome.wustl.edu	37	13	40253676	40253677	+	Splice_Site	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:40253676_40253677insT	ENST00000455146.3	+	6	592_593	c.542_543insT	c.(541-546)gatttt>gaTtttt	p.DF181fs	COG6_ENST00000416691.1_Splice_Site_p.DF181fs	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	181					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATTTTAAAGGATTTTTTCAAGG	0.371																																																	0																																										SO:0001630	splice_region_variant	0			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.541-1->T	13.37:g.40253682_40253682dupT			Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Frame_Shift_Ins	INS	pfam_COG6	p.K184fs	ENST00000455146.3	37	c.542_543	CCDS9370.1	13																																																																																			COG6	-	pfam_COG6	ENSG00000133103		0.371	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COG6	HGNC	protein_coding	OTTHUMT00000044622.3		0.00	37	0	-		Frame_Shift_Ins	40253677	+1	tier1		no_errors	ENST00000455146	ensembl	human	known	74_37	frame_shift_ins	40.00	18	12	INS	0.998:0.592	T
COL11A1	1301	genome.wustl.edu	37	1	103488445	103488445	+	Silent	SNP	G	G	A	rs369719875		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:103488445G>A	ENST00000370096.3	-	8	1410	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	COL11A1_ENST00000358392.2_Silent_p.D378D|COL11A1_ENST00000353414.4_Silent_p.D327D|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	366	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.D378D(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AATCCCTGCCGTCTATTTCTT	0.348																																																	1	Substitution - coding silent(1)	prostate(1)						G	,,,	1,4405	2.1+/-5.4	0,1,2202	75.0	74.0	74.0		981,1098,1134,	5.7	1.0	1		74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	327/1768,366/1807,378/1819,	103488445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1098C>T	1.37:g.103488445G>A			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.D378	ENST00000370096.3	37	c.1134	CCDS778.1	1																																																																																			COL11A1	-	NULL	ENSG00000060718		0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0.00	47	0	G	NM_080630		103488445	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	silent	11.90	37	5	SNP	1.000	A
COL12A1	1303	genome.wustl.edu	37	6	75798824	75798824	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:75798824delG	ENST00000322507.8	-	64	9317	c.9008delC	c.(9007-9009)ccafs	p.P3003fs	COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000345356.6_Frame_Shift_Del_p.P1839fs|COL12A1_ENST00000416123.2_Frame_Shift_Del_p.P2927fs|COL12A1_ENST00000483888.2_Frame_Shift_Del_p.P2999fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3003	Triple-helical region (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAACCTACCTGGGGGGCCAGG	0.478																																																	0													33.0	36.0	35.0					6																	75798824		1815	4071	5886	SO:0001589	frameshift_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.9008delC	6.37:g.75798824delG	ENSP00000325146:p.Pro3003fs		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P3003fs	ENST00000322507.8	37	c.9008	CCDS43482.1	6																																																																																			COL12A1	-	NULL	ENSG00000111799		0.478	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3		0.00	48	0	G	NM_004370		75798824	-1	tier1		no_errors	ENST00000322507	ensembl	human	known	74_37	frame_shift_del	26.19	31	11	DEL	1.000	-
COL12A1	1303	genome.wustl.edu	37	6	75866088	75866088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:75866088delG	ENST00000322507.8	-	15	3444	c.3135delC	c.(3133-3135)cccfs	p.P1045fs	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Frame_Shift_Del_p.P1045fs|COL12A1_ENST00000483888.2_Frame_Shift_Del_p.P1045fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1045	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.T1046fs*7(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGTGACTGTGGGGGGCACCT	0.488																																																	1	Deletion - Frameshift(1)	large_intestine(1)											219.0	203.0	208.0					6																	75866088		1963	4153	6116	SO:0001589	frameshift_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3135delC	6.37:g.75866088delG	ENSP00000325146:p.Pro1045fs		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T1046fs	ENST00000322507.8	37	c.3135	CCDS43482.1	6																																																																																			COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.488	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3		0.00	62	0	G	NM_004370		75866088	-1	tier1		no_errors	ENST00000322507	ensembl	human	known	74_37	frame_shift_del	36.23	44	25	DEL	0.377	-
COL15A1	1306	genome.wustl.edu	37	9	101706453	101706453	+	Silent	SNP	C	C	T	rs369351245		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:101706453C>T	ENST00000375001.3	+	2	444	c.21C>T	c.(19-21)aaC>aaT	p.N7N	RP11-92C4.6_ENST00000605631.1_RNA|COL15A1_ENST00000467052.1_3'UTR	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	7					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGAGGAACAACGGGCAGTGCT	0.642																																																	0								C		0,4406		0,0,2203	99.0	73.0	82.0		21	1.9	0.6	9		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL15A1	NM_001855.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		7/1389	101706453	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.21C>T	9.37:g.101706453C>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.N7	ENST00000375001.3	37	c.21	CCDS35081.1	9																																																																																			COL15A1	-	NULL	ENSG00000204291		0.642	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	-	0.00	69	0	C	NM_001855		101706453	+1	tier1	-	no_errors	ENST00000375001	ensembl	human	known	74_37	silent	31.03	60	27	SNP	0.618	T
COL18A1	80781	genome.wustl.edu	37	21	46930024	46930024	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:46930024G>A	ENST00000359759.4	+	39	4808	c.4787G>A	c.(4786-4788)gGc>gAc	p.G1596D	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.G1361D|COL18A1_ENST00000400337.2_Missense_Mutation_p.G1181D			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1596	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCATGCGGGGCATCCGCGGG	0.731																																																	0													5.0	8.0	7.0					21																	46930024		1829	3984	5813	SO:0001583	missense	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4787G>A	21.37:g.46930024G>A	ENSP00000352798:p.Gly1596Asp		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.G1596D	ENST00000359759.4	37	c.4787		21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.25|19.25	3.790833|3.790833	0.70452|0.70452	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000423214|ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	.|T;T;T;T	.|0.57595	.|0.39;0.39;0.39;0.39	4.32|4.32	4.32|4.32	0.51571|0.51571	.|Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	.|0.122041	.|0.56097	.|D	.|0.000035	T|T	0.73760|0.73760	0.3628|0.3628	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	T|T	0.77892|0.77892	-0.2418|-0.2418	5|10	.|0.59425	.|D	.|0.04	.|.	11.7744|11.7744	0.51977|0.51977	0.0:0.1782:0.8217:0.0|0.0:0.1782:0.8217:0.0	.|.	.|1596;1178;1361;1181	.|P39060;D3DSM4;P39060-1;P39060-2	.|COIA1_HUMAN;.;.;.	T|D	166|1181;1181;1361;1596;1596;529	.|ENSP00000383191:G1181D;ENSP00000347665:G1361D;ENSP00000352798:G1596D;ENSP00000339118:G529D	.|ENSP00000339118:G529D	A|G	+|+	1|2	0|0	COL18A1|COL18A1	45754452|45754452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.642000|0.642000	0.38348|0.38348	7.267000|7.267000	0.78462|0.78462	2.128000|2.128000	0.65567|0.65567	0.655000|0.655000	0.94253|0.94253	GCA|GGC	COL18A1	-	pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold	ENSG00000182871		0.731	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1		0.00	17	0	G			46930024	+1			no_errors	ENST00000359759	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	A
COL22A1	169044	genome.wustl.edu	37	8	139706798	139706798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:139706798G>A	ENST00000303045.6	-	34	3099	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q885*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	885	Collagen-like 7.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACGGCCCTGCAGTCCCTGT	0.577										HNSCC(7;0.00092)																																							0													86.0	75.0	79.0					8																	139706798		2203	4300	6503	SO:0001587	stop_gained	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2653C>T	8.37:g.139706798G>A	ENSP00000303153:p.Gln885*		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.Q885*	ENST00000303045.6	37	c.2653	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.364002	0.98779	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	3.7	3.7	0.42460	.	1.038910	0.07706	U	0.941303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2456	0.48996	0.0:0.0:1.0:0.0	.	.	.	.	X	885;885;598	.	ENSP00000303153:Q885X	Q	-	1	0	COL22A1	139775980	0.017000	0.18338	0.005000	0.12908	0.031000	0.12232	2.135000	0.42112	2.373000	0.80994	0.655000	0.94253	CAG	COL22A1	-	pfam_Collagen	ENSG00000169436		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0.00	43	0	G	XM_291257		139706798	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	nonsense	11.32	47	6	SNP	0.005	A
COL26A1	136227	genome.wustl.edu	37	7	101194404	101194404	+	RNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:101194404C>T	ENST00000397927.3	+	0	1222				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GGCTGGAGAGCGAGGCACAGT	0.687																																																	0													16.0	20.0	19.0					7																	101194404		1952	3993	5945			0			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101194404C>T			Q32M90	Nonsense_Mutation	SNP	pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain	p.R337*	ENST00000397927.3	37	c.1009		7	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578990	0.86645	.	.	ENSG00000160963	ENST00000313669	.	.	.	2.87	1.92	0.25849	.	0.306550	0.22924	N	0.053986	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8136	0.23819	0.2775:0.7225:0.0:0.0	.	.	.	.	X	337	.	ENSP00000318234:R337X	R	+	1	2	EMID2	100981124	0.609000	0.26975	0.396000	0.26296	0.222000	0.24845	0.758000	0.26447	0.714000	0.32081	0.555000	0.69702	CGA	COL26A1	-	pfam_Collagen	ENSG00000160963		0.687	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	COL26A1	HGNC	polymorphic_pseudogene	OTTHUMT00000315898.2	-	0.00	145	0	C	NM_133457		101194404	+1	tier1	-	no_errors	ENST00000313669	ensembl	human	known	74_37	nonsense	14.07	115	19	SNP	0.429	T
COL2A1	1280	genome.wustl.edu	37	12	48378778	48378778	+	Splice_Site	SNP	G	G	A	rs545120998		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:48378778G>A	ENST00000380518.3	-	27	1997	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.N542N	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	611	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TATTACTTACGTTGGCACCTT	0.572													g|||	1	0.000199681	0.0	0.0014	5008	,	,		21654	0.0		0.0	False		,,,				2504	0.0																0													48.0	45.0	46.0					12																	48378778		2203	4300	6503	SO:0001630	splice_region_variant	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1833+1C>T	12.37:g.48378778G>A			A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.N611	ENST00000380518.3	37	c.1833	CCDS41778.1	12																																																																																			COL2A1	-	NULL	ENSG00000139219		0.572	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0.00	51	0	G	NM_001844	Silent	48378778	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	silent	10.00	27	3	SNP	1.000	A
COL4A3	1285	genome.wustl.edu	37	2	228128620	228128620	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:228128620A>G	ENST00000396578.3	+	21	1437	c.1275A>G	c.(1273-1275)tcA>tcG	p.S425S	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	425	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTGCTGGTTCACCAGGTCTTC	0.592																																																	0													60.0	65.0	63.0					2																	228128620		1911	4115	6026	SO:0001819	synonymous_variant	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1275A>G	2.37:g.228128620A>G			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.S425	ENST00000396578.3	37	c.1275	CCDS42829.1	2																																																																																			COL4A3	-	pfam_Collagen	ENSG00000169031		0.592	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	-	0.00	82	0	A	NM_000091		228128620	+1	tier1	-	no_errors	ENST00000396578	ensembl	human	known	74_37	silent	16.18	56	11	SNP	0.815	G
COL4A5	1287	genome.wustl.edu	37	X	107898611	107898611	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:107898611T>C	ENST00000361603.2	+	37	3541	c.3297T>C	c.(3295-3297)tcT>tcC	p.S1099S	COL4A5_ENST00000328300.6_Silent_p.S1099S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1099	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCAAAGGTTCTGTGGGAGATC	0.473									Alport syndrome with Diffuse Leiomyomatosis																																								0													79.0	76.0	77.0					X																	107898611		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3297T>C	X.37:g.107898611T>C			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.S1099	ENST00000361603.2	37	c.3297	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen	ENSG00000188153		0.473	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	-	0.00	56	0	T			107898611	+1	tier1	-	no_errors	ENST00000328300	ensembl	human	known	74_37	silent	11.63	38	5	SNP	0.009	C
COL6A1	1291	genome.wustl.edu	37	21	47418819	47418819	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:47418819G>T	ENST00000361866.3	+	25	1734	c.1620G>T	c.(1618-1620)aaG>aaT	p.K540N		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	540	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGGGCACGAAGGGCTACCCCG	0.527																																																	0													16.0	15.0	15.0					21																	47418819		2110	4206	6316	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1620G>T	21.37:g.47418819G>T	ENSP00000355180:p.Lys540Asn		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.K540N	ENST00000361866.3	37	c.1620	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648769	0.47258	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93604	-3.25	4.36	1.54	0.23209	.	0.549745	0.18346	N	0.144033	D	0.88455	0.6441	L	0.41573	1.285	0.51233	D	0.999918	P	0.41748	0.761	B	0.42798	0.398	T	0.80750	-0.1243	10	0.23891	T	0.37	-13.8366	7.2482	0.26133	0.719:0.0:0.281:0.0	.	540	P12109	CO6A1_HUMAN	N	540	ENSP00000355180:K540N	ENSP00000355180:K540N	K	+	3	2	COL6A1	46243247	0.221000	0.23642	0.973000	0.42090	0.599000	0.36880	0.487000	0.22356	0.140000	0.18849	-0.657000	0.03884	AAG	COL6A1	-	pfam_Collagen	ENSG00000142156		0.527	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0.00	119	0	G	NM_001848		47418819	+1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	18.71	113	26	SNP	0.940	T
COL6A1	1291	genome.wustl.edu	37	21	47423639	47423639	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:47423639C>T	ENST00000361866.3	+	35	2913	c.2799C>T	c.(2797-2799)ggC>ggT	p.G933G	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	933	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCTCGTCCGGCGCTGCCAAGA	0.652																																																	0													27.0	23.0	24.0					21																	47423639		2202	4297	6499	SO:0001819	synonymous_variant	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2799C>T	21.37:g.47423639C>T			O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G933	ENST00000361866.3	37	c.2799	CCDS13727.1	21																																																																																			COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142156		0.652	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0.00	44	0	C	NM_001848		47423639	+1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	silent	34.00	33	17	SNP	0.000	T
COL6A3	1293	genome.wustl.edu	37	2	238232746	238232747	+	3'UTR	DEL	CA	CA	-	rs546590219		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:238232746_238232747delCA	ENST00000295550.4	-	0	10656_10657				COL6A3_ENST00000473258.1_5'UTR|COL6A3_ENST00000472056.1_3'UTR|COL6A3_ENST00000347401.3_3'UTR|COL6A3_ENST00000353578.4_3'UTR	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCCCTCCAGCACACACAAAAA	0.297																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.*671TG>-	2.37:g.238232752_238232753delCA			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	RNA	DEL	-	NULL	ENST00000295550.4	37	NULL	CCDS33412.1	2																																																																																			COL6A3	-	-	ENSG00000163359		0.297	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0.00	116	0	CA	NM_004369		238232747	-1	tier1		no_errors	ENST00000473258	ensembl	human	known	74_37	rna	11.25	71	9	DEL	0.001:0.000	-
COL6A5	256076	genome.wustl.edu	37	3	130110080	130110080	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:130110080delA	ENST00000432398.2	+	7	2969	c.2475delA	c.(2473-2475)atafs	p.I825fs	COL6A5_ENST00000265379.6_Frame_Shift_Del_p.I825fs	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	825	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAGGTAGCATAAAAAAACAAT	0.388																																																	0													99.0	78.0	84.0					3																	130110080		692	1591	2283	SO:0001589	frameshift_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2475delA	3.37:g.130110080delA	ENSP00000390895:p.Ile825fs		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Frame_Shift_Del	DEL	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.K827fs	ENST00000432398.2	37	c.2475		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.388	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding			0.00	67	0	A	NM_153264		130110080	+1	tier1		no_errors	ENST00000265379	ensembl	human	known	74_37	frame_shift_del	18.92	30	7	DEL	0.000	-
COL7A1	1294	genome.wustl.edu	37	3	48612871	48612871	+	Frame_Shift_Del	DEL	G	G	-	rs375047225		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:48612871delG	ENST00000328333.8	-	73	6188	c.6081delC	c.(6079-6081)cccfs	p.P2027fs	COL7A1_ENST00000454817.1_Frame_Shift_Del_p.P1995fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2027	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P2029fs*177(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGAAGGCCCGGGGGGGCCCC	0.721																																																	1	Deletion - Frameshift(1)	large_intestine(1)	GRCh37	CD961934	COL7A1	D				29,3811		4,21,1895	9.0	11.0	11.0			5.0	0.8	3		11	44,7720		3,38,3841	no	frameshift	COL7A1	NM_000094.3		7,59,5736	A1A1,A1R,RR		0.5667,0.7552,0.6291			48612871	73,11531	2081	4155	6236	SO:0001589	frameshift_variant	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6081delC	3.37:g.48612871delG	ENSP00000332371:p.Pro2027fs		Q14054|Q16507	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.P2029fs	ENST00000328333.8	37	c.6081	CCDS2773.1	3																																																																																			COL7A1	-	pfam_Collagen	ENSG00000114270		0.721	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1		0.00	45	0	G	NM_000094		48612871	-1	tier1		no_errors	ENST00000328333	ensembl	human	known	74_37	frame_shift_del	10.00	27	3	DEL	0.981	-
COL9A3	1299	genome.wustl.edu	37	20	61468612	61468612	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:61468612C>A	ENST00000343916.3	+	30	1784	c.1781C>A	c.(1780-1782)cCc>cAc	p.P594H	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	594	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GACCCCGGGCCCAGAGGTGAG	0.657																																																	0													16.0	22.0	20.0					20																	61468612		2197	4290	6487	SO:0001583	missense	0			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1781C>A	20.37:g.61468612C>A	ENSP00000341640:p.Pro594His		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	pfam_Collagen	p.P594H	ENST00000343916.3	37	c.1781	CCDS13505.1	20	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637846	0.87760	.	.	ENSG00000092758	ENST00000343916	D	0.96967	-4.19	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98364	1.0550	10	0.15066	T	0.55	.	17.843	0.88720	0.0:1.0:0.0:0.0	.	97;594	Q9BT15;Q14050	.;CO9A3_HUMAN	H	594	ENSP00000341640:P594H	ENSP00000341640:P594H	P	+	2	0	COL9A3	60939057	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.632000	0.67819	2.211000	0.71520	0.561000	0.74099	CCC	COL9A3	-	pfam_Collagen	ENSG00000092758		0.657	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	-	0.00	155	0	C	NM_001853		61468612	+1	tier1	-	no_errors	ENST00000343916	ensembl	human	known	74_37	missense	29.79	99	42	SNP	1.000	A
COPB1	1315	genome.wustl.edu	37	11	14515826	14515826	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:14515826A>T	ENST00000249923.3	-	3	551	c.251T>A	c.(250-252)aTt>aAt	p.I84N	PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.I84N|PSMA1_ENST00000555531.1_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	84					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTTAGGAACAATTTCCCAAAA	0.353																																																	0													85.0	88.0	87.0					11																	14515826		2200	4294	6494	SO:0001583	missense	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.251T>A	11.37:g.14515826A>T	ENSP00000249923:p.Ile84Asn		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.I84N	ENST00000249923.3	37	c.251	CCDS7815.1	11	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708479	0.89018	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234;ENST00000529866;ENST00000534771	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.31	5.31	0.75309	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	M	0.89214	3.015	0.80722	D	1	P	0.51147	0.942	P	0.52957	0.714	T	0.56147	-0.8027	10	0.38643	T	0.18	-8.897	15.2851	0.73822	1.0:0.0:0.0:0.0	.	84	P53618	COPB_HUMAN	N	84	ENSP00000249923:I84N;ENSP00000397873:I84N;ENSP00000436383:I84N;ENSP00000431530:I84N;ENSP00000436401:I84N	ENSP00000249923:I84N	I	-	2	0	COPB1	14472402	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.004000	0.58718	0.533000	0.62120	ATT	COPB1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	ENSG00000129083		0.353	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1	-	0.00	72	0	A	NM_016451		14515826	-1	tier1	-	no_errors	ENST00000249923	ensembl	human	known	74_37	missense	10.14	62	7	SNP	1.000	T
COPE	11316	genome.wustl.edu	37	19	19016452	19016452	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:19016452C>T	ENST00000262812.4	-	5	492				COPE_ENST00000351079.4_Intron|COPE_ENST00000600932.1_Intron|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000349893.4_Intron	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon						COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						CAGGACAGGGCGAGGGGGCGG	0.647																																																	0													46.0	47.0	47.0					19																	19016452		2197	4297	6494	SO:0001627	intron_variant	0			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.444-14G>A	19.37:g.19016452C>T			A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	RNA	SNP	-	NULL	ENST00000262812.4	37	NULL	CCDS12387.1	19																																																																																			COPE	-	-	ENSG00000105669		0.647	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	-	0.00	117	0	C	NM_007263		19016452	-1	tier1	-	no_errors	ENST00000598969	ensembl	human	known	74_37	rna	31.58	76	36	SNP	0.000	T
COX20	116228	genome.wustl.edu	37	1	245005347	245005347	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:245005347delT	ENST00000411948.2	+	2	537	c.144delT	c.(142-144)catfs	p.H48fs	COX20_ENST00000498262.1_3'UTR|COX20_ENST00000366528.3_Frame_Shift_Del_p.H60fs	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	48						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											GCTTTGGACATTTTTTGTTCA	0.343																																																	0													82.0	75.0	77.0					1																	245005347		2203	4300	6503	SO:0001589	frameshift_variant	0			BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"""Mitochondrial respiratory chain complex assembly factors"""	26970	protein-coding gene	gene with protein product		614698	"""family with sequence similarity 36, member A"", ""COX20 Cox2 chaperone homolog (S. cerevisiae)"""	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.144delT	1.37:g.245005347delT	ENSP00000406327:p.His48fs		Q8WV86	Frame_Shift_Del	DEL	pfam_Cox20/FAM36A,prints_FAM36A	p.L50fs	ENST00000411948.2	37	c.144	CCDS31080.1	1																																																																																			COX20	-	pfam_Cox20/FAM36A,prints_FAM36A	ENSG00000203667		0.343	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX20	HGNC	protein_coding	OTTHUMT00000097174.1		0.00	128	0	T	NM_198076		245005347	+1	tier1		no_errors	ENST00000411948	ensembl	human	known	74_37	frame_shift_del	9.63	122	13	DEL	0.988	-
COX7A1	1346	genome.wustl.edu	37	19	36642594	36642594	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36642594G>A	ENST00000292907.3	-	2	540	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	27					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTTTCTCGCGCACTCGGTTC	0.716																																																	0													15.0	18.0	17.0					19																	36642594		2195	4294	6489	SO:0001583	missense	0			BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.79C>T	19.37:g.36642594G>A	ENSP00000292907:p.Arg27Cys			Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a	p.R27C	ENST00000292907.3	37	c.79	CCDS12490.1	19	.	.	.	.	.	.	.	.	.	.	g	9.855	1.194635	0.22037	.	.	ENSG00000161281	ENST00000292907	T	0.45276	0.9	5.3	-2.08	0.07254	.	0.460721	0.22532	N	0.058833	T	0.37046	0.0989	.	.	.	0.09310	N	1	P	0.39116	0.66	B	0.39068	0.289	T	0.50233	-0.8852	9	0.87932	D	0	-2.6632	16.9737	0.86308	0.0:0.3633:0.6367:0.0	.	27	P24310	CX7A1_HUMAN	C	27	ENSP00000292907:R27C	ENSP00000292907:R27C	R	-	1	0	COX7A1	41334434	0.027000	0.19231	0.121000	0.21740	0.015000	0.08874	0.187000	0.16998	-0.026000	0.13895	-0.194000	0.12790	CGC	COX7A1	-	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a	ENSG00000161281		0.716	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX7A1	HGNC	protein_coding	OTTHUMT00000109545.2	-	0.00	79	0	G	NM_001864		36642594	-1	tier1	-	no_errors	ENST00000292907	ensembl	human	known	74_37	missense	22.67	58	17	SNP	0.027	A
COX7A2L	9167	genome.wustl.edu	37	2	42578275	42578276	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:42578275_42578276delAA	ENST00000378669.1	-	0	1257_1258				COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_3'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like						cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						CCATCCAAGtaaaaaaaaaaat	0.327																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.*84TT>-	2.37:g.42578283_42578284delAA			Q9P118	RNA	DEL	-	NULL	ENST00000378669.1	37	NULL	CCDS1808.1	2																																																																																			COX7A2L	-	-	ENSG00000115944		0.327	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX7A2L	HGNC	protein_coding	OTTHUMT00000250466.3		0.00	36	0	AA	NM_004718		42578276	-1	tier1		no_errors	ENST00000482463	ensembl	human	known	74_37	rna	29.03	22	9	DEL	0.000:0.000	-
CPAMD8	27151	genome.wustl.edu	37	19	17062998	17062998	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:17062998A>G	ENST00000443236.1	-	20	2461	c.2430T>C	c.(2428-2430)ggT>ggC	p.G810G		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	763						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTCCCCTCACCAGATGGGT	0.657																																																	0													10.0	11.0	11.0					19																	17062998		1872	3808	5680	SO:0001819	synonymous_variant	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2430T>C	19.37:g.17062998A>G			Q8NC09|Q9ULD7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.G810	ENST00000443236.1	37	c.2430	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	a	7.909	0.736121	0.15574	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.27	-3.32	0.04973	.	.	.	.	.	T	0.36717	0.0977	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38585	-0.9654	4	.	.	.	.	0.69	0.00890	0.2761:0.3189:0.1409:0.2641	.	.	.	.	A	821	.	.	V	-	2	0	CPAMD8	16923998	0.689000	0.27690	0.115000	0.21578	0.847000	0.48162	-0.472000	0.06623	-0.119000	0.11830	0.398000	0.26397	GTG	CPAMD8	-	pfam_Macroglobln_a2	ENSG00000160111		0.657	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	-	0.00	41	0	A	NM_015692		17062998	-1	tier1	-	no_errors	ENST00000443236	ensembl	human	known	74_37	silent	46.43	15	13	SNP	0.846	G
CPEB4	80315	genome.wustl.edu	37	5	173383454	173383454	+	3'UTR	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:173383454A>C	ENST00000265085.5	+	0	3958				CPEB4_ENST00000334035.5_3'UTR|CPEB4_ENST00000517880.1_3'UTR|CPEB4_ENST00000522336.1_3'UTR|CPEB4_ENST00000519467.1_3'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4						cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTAAAAGAGAAATGAAACAAT	0.274																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.*314A>C	5.37:g.173383454A>C			B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	RNA	SNP	-	NULL	ENST00000265085.5	37	NULL	CCDS4390.1	5																																																																																			CPEB4	-	-	ENSG00000113742		0.274	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2	-	0.00	34	0	A	NM_030627		173383454	+1	tier1	-	no_errors	ENST00000519467	ensembl	human	known	74_37	rna	30.77	18	8	SNP	1.000	C
CPLX2	10814	genome.wustl.edu	37	5	175306035	175306035	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:175306035C>T	ENST00000359546.4	+	4	799	c.156C>T	c.(154-156)caC>caT	p.H52H	CPLX2_ENST00000515094.1_Silent_p.H52H|CPLX2_ENST00000393745.3_Silent_p.H52H|CPLX2_ENST00000512824.1_Silent_p.H52H	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	52	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGGCCAAGCACGCGCGCATGG	0.687																																																	0													19.0	18.0	19.0					5																	175306035		2198	4296	6494	SO:0001819	synonymous_variant	0			U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.156C>T	5.37:g.175306035C>T			B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Silent	SNP	pfam_Synaphin	p.H52	ENST00000359546.4	37	c.156	CCDS4396.1	5																																																																																			CPLX2	-	pfam_Synaphin	ENSG00000145920		0.687	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX2	HGNC	protein_coding	OTTHUMT00000253157.2	-	0.00	47	0	C			175306035	+1	tier1	-	no_errors	ENST00000359546	ensembl	human	known	74_37	silent	32.35	23	11	SNP	0.897	T
CPNE1	8904	genome.wustl.edu	37	20	34218840	34218840	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:34218840C>A	ENST00000317619.3	-	13	1372	c.978G>T	c.(976-978)gtG>gtT	p.V326V	CPNE1_ENST00000397443.1_Silent_p.V326V|CPNE1_ENST00000397445.1_Silent_p.V326V|CPNE1_ENST00000352393.4_Silent_p.V326V|CPNE1_ENST00000397446.1_Silent_p.V326V|CPNE1_ENST00000317677.5_Silent_p.V331V|CPNE1_ENST00000397442.1_Silent_p.V326V			Q99829	CPNE1_HUMAN	copine I	326	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGTCCTGAACCACGCTGCCCA	0.567																																																	0													159.0	129.0	139.0					20																	34218840		2203	4300	6503	SO:0001819	synonymous_variant	0			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.978G>T	20.37:g.34218840C>A			E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.V331	ENST00000317619.3	37	c.993	CCDS13260.1	20																																																																																			CPNE1	-	pfam_Copine,smart_VWF_A	ENSG00000214078		0.567	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	HGNC	protein_coding	OTTHUMT00000078909.3	-	0.00	37	0	C	NM_152930		34218840	-1	tier1	-	no_errors	ENST00000317677	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.997	A
CPNE7	27132	genome.wustl.edu	37	16	89657608	89657608	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:89657608G>A	ENST00000268720.5	+	15	1597	c.1467G>A	c.(1465-1467)gcG>gcA	p.A489A	CPNE7_ENST00000319518.8_Silent_p.A414A	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	489	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCAACGTGGCGCCCATCATCT	0.701																																																	0													19.0	21.0	20.0					16																	89657608		2184	4287	6471	SO:0001819	synonymous_variant	0			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1467G>A	16.37:g.89657608G>A				Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.A489	ENST00000268720.5	37	c.1467	CCDS10980.1	16																																																																																			CPNE7	-	pfam_Copine,smart_VWF_A,pfscan_VWF_A	ENSG00000178773		0.701	CPNE7-002	KNOWN	basic|CCDS	protein_coding	CPNE7	HGNC	protein_coding	OTTHUMT00000269929.2	-	0.00	126	0	G			89657608	+1	tier1	-	no_errors	ENST00000268720	ensembl	human	known	74_37	silent	14.12	73	12	SNP	0.521	A
CPSF2	53981	genome.wustl.edu	37	14	92601793	92601795	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:92601793_92601795delAGA	ENST00000298875.4	+	6	783_785	c.498_500delAGA	c.(496-501)ggagaa>gga	p.E169del		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	169					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TCAAAGATGGAGAAGAAGAAATT	0.374																																					Ovarian(78;28 1788 18702 44111)												0																																										SO:0001651	inframe_deletion	0			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.498_500delAGA	14.37:g.92601799_92601801delAGA	ENSP00000298875:p.Glu169del		B3KME1|Q6NSJ1|Q9H3W7	In_Frame_Del	DEL	pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.E169in_frame_del	ENST00000298875.4	37	c.498_500	CCDS9902.1	14																																																																																			CPSF2	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	ENSG00000165934		0.374	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	HGNC	protein_coding	OTTHUMT00000412123.1		0.00	56	0	AGA			92601795	+1	tier1		no_errors	ENST00000298875	ensembl	human	known	74_37	in_frame_del	12.96	47	7	DEL	0.997:1.000:1.000	-
CPSF7	79869	genome.wustl.edu	37	11	61183898	61183898	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:61183898A>G	ENST00000394888.4	-	6	816	c.644T>C	c.(643-645)gTg>gCg	p.V215A	CPSF7_ENST00000340437.4_Missense_Mutation_p.V258A|CPSF7_ENST00000448745.1_Missense_Mutation_p.V206A|CPSF7_ENST00000439958.3_Missense_Mutation_p.V206A	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	215					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGGCTTATCCACACGAGCAGA	0.582																																																	0													111.0	107.0	108.0					11																	61183898		2202	4299	6501	SO:0001583	missense	0				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.644T>C	11.37:g.61183898A>G	ENSP00000378352:p.Val215Ala		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V258A	ENST00000394888.4	37	c.773	CCDS44619.1	11	.	.	.	.	.	.	.	.	.	.	A	4.104	0.017392	0.07959	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585	.	.	.	5.14	5.14	0.70334	.	0.359244	0.26289	N	0.025238	T	0.34337	0.0894	N	0.11427	0.14	0.80722	D	1	B;B;B;B	0.14012	0.001;0.005;0.009;0.009	B;B;B;B	0.16289	0.004;0.003;0.015;0.006	T	0.21827	-1.0234	9	0.06236	T	0.91	-3.1392	13.3459	0.60573	1.0:0.0:0.0:0.0	.	206;215;258;206	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	A	258;215;206;206;206;206;206	.	ENSP00000345412:V258A	V	-	2	0	CPSF7	60940474	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.074000	0.50065	2.153000	0.67306	0.533000	0.62120	GTG	CPSF7	-	NULL	ENSG00000149532		0.582	CPSF7-006	KNOWN	basic|CCDS	protein_coding	CPSF7	HGNC	protein_coding	OTTHUMT00000347835.2	-	0.00	51	0	A	NM_024811		61183898	-1	tier1	-	no_errors	ENST00000340437	ensembl	human	known	74_37	missense	24.19	47	15	SNP	1.000	G
CRADD	8738	genome.wustl.edu	37	12	94243848	94243848	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:94243848T>C	ENST00000542893.2	+	3	719	c.401T>C	c.(400-402)aTg>aCg	p.M134T	CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000332896.3_Missense_Mutation_p.M134T			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	134	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGGAGCCCATGGTGCTGTCT	0.612																																																	0													56.0	53.0	54.0					12																	94243848		2203	4300	6503	SO:0001583	missense	0			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.401T>C	12.37:g.94243848T>C	ENSP00000439068:p.Met134Thr		B7Z2Q5	Missense_Mutation	SNP	pfam_CARD,pfam_Death_domain,superfamily_DEATH-like_dom,smart_CARD,smart_Death_domain,pfscan_CARD,pfscan_Death_domain	p.M134T	ENST00000542893.2	37	c.401	CCDS9048.1	12	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740541	0.30865	.	.	ENSG00000169372	ENST00000332896;ENST00000542893	D;D	0.85088	-1.94;-1.94	5.86	4.71	0.59529	Death (3);DEATH-like (2);	0.527266	0.21167	N	0.079059	T	0.71945	0.3400	N	0.08118	0	0.58432	D	0.999994	B	0.06786	0.001	B	0.08055	0.003	T	0.66779	-0.5837	10	0.66056	D	0.02	-9.4979	11.9202	0.52787	0.0:0.0678:0.0:0.9322	.	134	P78560	CRADD_HUMAN	T	134	ENSP00000327647:M134T;ENSP00000439068:M134T	ENSP00000327647:M134T	M	+	2	0	CRADD	92767979	0.938000	0.31826	0.193000	0.23327	0.723000	0.41478	5.237000	0.65360	1.041000	0.40125	0.460000	0.39030	ATG	CRADD	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000169372		0.612	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CRADD	HGNC	protein_coding	OTTHUMT00000408515.1	-	0.00	67	0	T	NM_003805		94243848	+1	tier1	-	no_errors	ENST00000332896	ensembl	human	known	74_37	missense	33.90	39	20	SNP	0.032	C
CREBBP	1387	genome.wustl.edu	37	16	3900661	3900661	+	Frame_Shift_Del	DEL	G	G	-	rs201435679		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:3900661delG	ENST00000262367.5	-	2	1244	c.435delC	c.(433-435)cccfs	p.P145fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P145fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	145					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGAGGCAGCGGGGGTGGGCC	0.622			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													46.0	51.0	49.0					16																	3900661		2197	4299	6496	SO:0001589	frameshift_variant	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.435delC	16.37:g.3900661delG	ENSP00000262367:p.Pro145fs		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.A146fs	ENST00000262367.5	37	c.435	CCDS10509.1	16																																																																																			CREBBP	-	NULL	ENSG00000005339		0.622	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0.00	85	0	G	NM_004380		3900661	-1	tier1		no_errors	ENST00000262367	ensembl	human	known	74_37	frame_shift_del	9.76	74	8	DEL	0.961	-
CREBBP	1387	genome.wustl.edu	37	16	3843431	3843431	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:3843431A>G	ENST00000262367.5	-	4	1981	c.1172T>C	c.(1171-1173)gTt>gCt	p.V391A	CREBBP_ENST00000382070.3_Missense_Mutation_p.V391A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	391	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGATTCAAAACGTTTTTCAT	0.488			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													149.0	136.0	140.0					16																	3843431		2197	4300	6497	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1172T>C	16.37:g.3843431A>G	ENSP00000262367:p.Val391Ala		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.V391A	ENST00000262367.5	37	c.1172	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188300	0.78789	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84589	-1.87;-1.87	5.91	5.91	0.95273	Zinc finger, TAZ-type (5);	0.191451	0.35555	N	0.003122	D	0.94172	0.8130	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95064	0.8198	10	0.59425	D	0.04	-16.2522	16.3483	0.83171	1.0:0.0:0.0:0.0	.	459;391	Q4LE28;Q92793	.;CBP_HUMAN	A	391;459;391	ENSP00000262367:V391A;ENSP00000371502:V391A	ENSP00000262367:V391A	V	-	2	0	CREBBP	3783432	1.000000	0.71417	0.917000	0.36280	0.996000	0.88848	9.287000	0.95975	2.254000	0.74563	0.533000	0.62120	GTT	CREBBP	-	pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ	ENSG00000005339		0.488	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0.00	51	0	A	NM_004380		3843431	-1			no_errors	ENST00000262367	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	G
CREBZF	58487	genome.wustl.edu	37	11	85371376	85371376	+	IGR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:85371376delA	ENST00000527447.1	-	0	4037				CREBZF_ENST00000398294.2_3'UTR|CREBZF_ENST00000534224.1_3'UTR|CREBZF_ENST00000531515.1_5'UTR	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor						negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				CATGAAAGACAAAAAAAGTAT	0.289																																					NSCLC(172;674 2044 9050 18334 41735)												0																																										SO:0001628	intergenic_variant	0			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648		11.37:g.85371376delA			B2R8Q9|Q0P5U9|Q52LT3	RNA	DEL	-	NULL	ENST00000527447.1	37	NULL	CCDS41697.1	11																																																																																			CREBZF	-	-	ENSG00000137504		0.289	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBZF	HGNC	protein_coding	OTTHUMT00000390191.2		0.00	40	0	A	NM_001039618		85371376	-1	tier1		no_errors	ENST00000531515	ensembl	human	known	74_37	rna	19.05	34	8	DEL	0.940	-
CRIM1	51232	genome.wustl.edu	37	2	36774266	36774266	+	Missense_Mutation	SNP	G	G	T	rs13419463		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:36774266G>T	ENST00000280527.2	+	16	3253	c.2886G>T	c.(2884-2886)caG>caT	p.Q962H	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	962					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q962H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCATCAATCAGAAGAAACAGT	0.393																																																	1	Substitution - Missense(1)	urinary_tract(1)											95.0	95.0	95.0					2																	36774266		2203	4300	6503	SO:0001583	missense	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2886G>T	2.37:g.36774266G>T	ENSP00000280527:p.Gln962His		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.Q962H	ENST00000280527.2	37	c.2886	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507402	0.85282	.	.	ENSG00000150938	ENST00000280527	T	0.04917	3.53	5.81	5.81	0.92471	.	0.182612	0.48767	D	0.000174	T	0.07458	0.0188	L	0.27053	0.805	0.51482	D	0.999927	P	0.46395	0.877	B	0.41723	0.365	T	0.30357	-0.9981	10	0.40728	T	0.16	-7.2377	19.0666	0.93114	0.0:0.0:1.0:0.0	.	962	Q9NZV1	CRIM1_HUMAN	H	962	ENSP00000280527:Q962H	ENSP00000280527:Q962H	Q	+	3	2	CRIM1	36627770	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.709000	0.61867	2.736000	0.93811	0.655000	0.94253	CAG	CRIM1	-	NULL	ENSG00000150938		0.393	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2		0.00	40	0	G	NM_016441		36774266	+1			no_errors	ENST00000280527	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
CROCC	9696	genome.wustl.edu	37	1	17265554	17265554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:17265554C>T	ENST00000375541.5	+	12	1594	c.1525C>T	c.(1525-1527)Cga>Tga	p.R509*	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TTCACCCCGCCGAGGCCCCTC	0.741																																																	0													6.0	7.0	6.0					1																	17265554		1986	3871	5857	SO:0001587	stop_gained	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1525C>T	1.37:g.17265554C>T	ENSP00000364691:p.Arg509*			Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.R509*	ENST00000375541.5	37	c.1525	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.544913	0.98348	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.0808	0.89440	0.0:1.0:0.0:0.0	.	.	.	.	X	509;390	.	ENSP00000364691:R509X	R	+	1	2	CROCC	17138141	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.622000	0.54217	2.702000	0.92279	0.561000	0.74099	CGA	CROCC	-	NULL	ENSG00000058453		0.741	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	-	0.00	125	0	C	NM_014675		17265554	+1	tier1	-	no_errors	ENST00000375541	ensembl	human	known	74_37	nonsense	13.68	101	16	SNP	1.000	T
CROCC	9696	genome.wustl.edu	37	1	17267529	17267530	+	Intron	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:17267529_17267530insT	ENST00000375541.5	+	13	1877				CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		acatttctaaattttttgtaga	0.525																																																	0																																										SO:0001627	intron_variant	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1808+941->T	1.37:g.17267535_17267535dupT				RNA	INS	-	NULL	ENST00000375541.5	37	NULL	CCDS30616.1	1																																																																																			CROCC	-	-	ENSG00000058453		0.525	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2		0.00	32	0	-	NM_014675		17267530	+1	tier1		no_errors	ENST00000466256	ensembl	human	known	74_37	rna	21.88	25	7	INS	0.057:0.102	T
CROCC	9696	genome.wustl.edu	37	1	17287269	17287269	+	Missense_Mutation	SNP	G	G	A	rs140278341		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:17287269G>A	ENST00000375541.5	+	27	4118	c.4049G>A	c.(4048-4050)cGg>cAg	p.R1350Q		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GTAGCCCAGCGGAAGCTGCAG	0.667											OREG0013143	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	GLN/ARG	1,4179		0,1,2089	8.0	8.0	8.0		4049	3.7	1.0	1	dbSNP_134	8	0,8238		0,0,4119	no	missense	CROCC	NM_014675.3	43	0,1,6208	AA,AG,GG		0.0,0.0239,0.0081	probably-damaging	1350/2018	17287269	1,12417	2090	4119	6209	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4049G>A	1.37:g.17287269G>A	ENSP00000364691:p.Arg1350Gln	716		Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.R1350Q	ENST00000375541.5	37	c.4049	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634411	0.67130	2.39E-4	0.0	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.61980	0.06	3.68	3.68	0.42216	.	.	.	.	.	T	0.62913	0.2467	L	0.43152	1.355	0.37456	D	0.915012	D;D	0.64830	0.994;0.994	P;P	0.53224	0.721;0.651	T	0.64170	-0.6470	9	0.26408	T	0.33	.	13.6993	0.62599	0.0:0.0:1.0:0.0	.	653;1350	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	Q	1350;1231	ENSP00000364691:R1350Q	ENSP00000364691:R1350Q	R	+	2	0	CROCC	17159856	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.788000	0.47806	1.975000	0.57531	0.491000	0.48974	CGG	CROCC	-	NULL	ENSG00000058453		0.667	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	-	0.00	49	0	G	NM_014675		17287269	+1	tier1	rs140278341	no_errors	ENST00000375541	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	A
CROCC	9696	genome.wustl.edu	37	1	17296892	17296892	+	Missense_Mutation	SNP	C	C	T	rs374780265		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:17296892C>T	ENST00000375541.5	+	34	5665	c.5596C>T	c.(5596-5598)Cgc>Tgc	p.R1866C		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAGGTGGAGCGCTCAGCCCT	0.677																																																	0								C	CYS/ARG	1,4235		0,1,2117	14.0	11.0	12.0		5596	5.2	1.0	1		12	0,8336		0,0,4168	no	missense	CROCC	NM_014675.3	180	0,1,6285	TT,TC,CC		0.0,0.0236,0.0080	probably-damaging	1866/2018	17296892	1,12571	2118	4168	6286	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5596C>T	1.37:g.17296892C>T	ENSP00000364691:p.Arg1866Cys			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.R1866C	ENST00000375541.5	37	c.5596	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143166	0.77888	2.36E-4	0.0	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.14266	2.52	5.17	5.17	0.71159	.	.	.	.	.	T	0.25494	0.0620	M	0.71206	2.165	0.58432	D	0.999999	D;D;D	0.63046	0.988;0.992;0.975	P;P;P	0.51742	0.579;0.678;0.656	T	0.00647	-1.1628	9	0.52906	T	0.07	.	11.6338	0.51192	0.1775:0.8225:0.0:0.0	.	1747;1169;1866	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	C	1866;1747	ENSP00000364691:R1866C	ENSP00000364691:R1866C	R	+	1	0	CROCC	17169479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.945000	0.40273	2.593000	0.87608	0.655000	0.94253	CGC	CROCC	-	NULL	ENSG00000058453		0.677	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	-	0.00	98	0	C	NM_014675		17296892	+1	tier1	-	no_errors	ENST00000375541	ensembl	human	known	74_37	missense	16.30	77	15	SNP	1.000	T
CRP	1401	genome.wustl.edu	37	1	159683861	159683861	+	Silent	SNP	C	C	T	rs36061058	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:159683861C>T	ENST00000255030.5	-	2	232	c.129G>A	c.(127-129)ccG>ccA	p.P43P	CRP_ENST00000368112.1_Silent_p.P43P|CRP_ENST00000437342.1_Intron|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000343919.2_Silent_p.P43P|CRP_ENST00000368111.1_Silent_p.P43P|CRP_ENST00000368110.1_Silent_p.P43P	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	43	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	GCTTCGTTAACGGTGCTTTGA	0.488													C|||	23	0.00459265	0.0159	0.0029	5008	,	,		18195	0.0		0.0	False		,,,				2504	0.0																0								C		73,4333	64.1+/-101.4	2,69,2132	113.0	116.0	115.0		129	-2.1	0.0	1	dbSNP_126	115	0,8600		0,0,4300	no	coding-synonymous	CRP	NM_000567.2		2,69,6432	TT,TC,CC		0.0,1.6568,0.5613		43/225	159683861	73,12933	2203	4300	6503	SO:0001819	synonymous_variant	0			M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.129G>A	1.37:g.159683861C>T			A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Silent	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.P43	ENST00000255030.5	37	c.129	CCDS30911.1	1																																																																																			CRP	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin	ENSG00000132693		0.488	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRP	HGNC	protein_coding	OTTHUMT00000085553.1		0.00	24	0	C	NM_000567		159683861	-1			no_errors	ENST00000255030	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.000	T
CRTAC1	55118	genome.wustl.edu	37	10	99655012	99655012	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:99655012G>T	ENST00000370597.3	-	11	1831	c.1476C>A	c.(1474-1476)caC>caA	p.H492Q	CRTAC1_ENST00000298819.4_Missense_Mutation_p.H492Q|CRTAC1_ENST00000370591.2_Missense_Mutation_p.H492Q	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	492						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCAGGCCAAAGTGTGCCACGG	0.617																																																	0													75.0	65.0	69.0					10																	99655012		2203	4300	6503	SO:0001583	missense	0			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1476C>A	10.37:g.99655012G>T	ENSP00000359629:p.His492Gln		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.H492Q	ENST00000370597.3	37	c.1476	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521466	0.64747	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.79141	0.99;-1.24;0.97;-0.41;-0.41	5.06	3.15	0.36227	ASPIC/UnbV (1);	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	H	0.94620	3.56	0.50813	D	0.999892	D;D;D	0.89917	0.997;0.991;1.0	D;P;D	0.78314	0.973;0.906;0.991	D	0.90021	0.4128	10	0.72032	D	0.01	-25.2554	9.3507	0.38136	0.2437:0.0:0.7563:0.0	.	492;492;388	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	Q	388;492;492;484;492	ENSP00000408445:H388Q;ENSP00000359629:H492Q;ENSP00000298819:H492Q;ENSP00000310810:H484Q;ENSP00000359623:H492Q	ENSP00000298819:H492Q	H	-	3	2	CRTAC1	99645002	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.400000	0.52594	1.092000	0.41356	0.462000	0.41574	CAC	CRTAC1	-	pfam_UnbV_ASPIC	ENSG00000095713		0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	-	0.00	39	0	G	NM_018058		99655012	-1	tier1	-	no_errors	ENST00000370597	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
CRTAP	10491	genome.wustl.edu	37	3	33161920	33161920	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:33161920G>A	ENST00000320954.6	+	2	655	c.556G>A	c.(556-558)Gca>Aca	p.A186T	CRTAP_ENST00000449224.1_Missense_Mutation_p.A186T|CRTAP_ENST00000485310.1_3'UTR	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	186					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						gaggaacatggcatattataa	0.433																																																	0													121.0	110.0	114.0					3																	33161920		2203	4300	6503	SO:0001583	missense	0			AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.556G>A	3.37:g.33161920G>A	ENSP00000323696:p.Ala186Thr		B2RBL6	Missense_Mutation	SNP	NULL	p.A186T	ENST00000320954.6	37	c.556	CCDS2657.1	3	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622347	0.66787	.	.	ENSG00000170275	ENST00000320954;ENST00000509775;ENST00000539684;ENST00000449224;ENST00000423366	T;T	0.76316	-1.01;-1.01	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);	0.169262	0.52532	D	0.000070	T	0.79650	0.4482	M	0.79258	2.445	0.53005	D	0.999968	P;P	0.38078	0.617;0.465	B;B	0.36666	0.23;0.23	T	0.80679	-0.1275	10	0.42905	T	0.14	-1.1232	19.2744	0.94026	0.0:0.0:1.0:0.0	.	186;186	C9JP16;O75718	.;CRTAP_HUMAN	T	186;186;173;186;186	ENSP00000323696:A186T;ENSP00000409997:A186T	ENSP00000323696:A186T	A	+	1	0	CRTAP	33136924	1.000000	0.71417	0.991000	0.47740	0.911000	0.54048	6.250000	0.72435	2.638000	0.89438	0.563000	0.77884	GCA	CRTAP	-	NULL	ENSG00000170275		0.433	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAP	HGNC	protein_coding	OTTHUMT00000253246.3	-	0.00	69	0	G			33161920	+1	tier1	-	no_errors	ENST00000320954	ensembl	human	known	74_37	missense	17.33	62	13	SNP	1.000	A
CRYAA	1409	genome.wustl.edu	37	21	44589921	44589922	+	Intron	DEL	CC	CC	-	rs71699904		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:44589921_44589922delCC	ENST00000291554.2	+	1	281				CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000482775.1_Intron|CRYAA_ENST00000398133.1_Frame_Shift_Del_p.P32fs	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A						negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GCAATGGACGCCCCCCCCCCCA	0.609																																																	0																																										SO:0001627	intron_variant	0				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.189+523CC>-	21.37:g.44589929_44589930delCC			Q53X53	Frame_Shift_Del	DEL	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.H33fs	ENST00000291554.2	37	c.87_88	CCDS13695.1	21																																																																																			CRYAA	-	superfamily_HSP20-like_chaperone	ENSG00000160202		0.609	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYAA	HGNC	protein_coding	OTTHUMT00000195562.1		0.00	69	0	CC			44589922	+1	tier1		no_errors	ENST00000398133	ensembl	human	putative	74_37	frame_shift_del	35.44	51	28	DEL	0.026:0.029	-
CSF2RA	1438	genome.wustl.edu	37	X	1424391	1424391	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:1424391C>T	ENST00000381524.3	+	12	1282	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	CSF2RA_ENST00000432318.2_Silent_p.L366L|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000381509.3_Silent_p.L366L|CSF2RA_ENST00000361536.3_Silent_p.N333N|CSF2RA_ENST00000355805.2_Silent_p.N233N|CSF2RA_ENST00000381529.3_Silent_p.L366L|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Silent_p.N333N|CSF2RA_ENST00000501036.2_Silent_p.L233L|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Silent_p.L400L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	366					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAAAGACAAACTGAATGATAA	0.562																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												0													188.0	167.0	174.0					X																	1424391		2203	4296	6499	SO:0001819	synonymous_variant	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.1096C>T	X.37:g.1424391C>T			A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.L400	ENST00000381524.3	37	c.1198	CCDS35191.1	X																																																																																			CSF2RA	-	NULL	ENSG00000198223		0.562	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	-	0.00	175	0	C			1424391	+1	tier1	-	no_errors	ENST00000417535	ensembl	human	known	74_37	silent	16.98	88	18	SNP	0.003	T
CSMD1	64478	genome.wustl.edu	37	8	3019724	3019724	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:3019724T>C	ENST00000520002.1	-	39	6359	c.5804A>G	c.(5803-5805)aAc>aGc	p.N1935S	CSMD1_ENST00000542608.1_Missense_Mutation_p.N1934S|CSMD1_ENST00000539096.1_Missense_Mutation_p.N1934S|CSMD1_ENST00000602723.1_Missense_Mutation_p.N1935S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.N1935S|CSMD1_ENST00000537824.1_Missense_Mutation_p.N1934S|CSMD1_ENST00000400186.3_Missense_Mutation_p.N1935S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1935	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGCACGTCGTTCACCATGTA	0.512																																																	0																																										SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5804A>G	8.37:g.3019724T>C	ENSP00000430733:p.Asn1935Ser		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.N1935S	ENST00000520002.1	37	c.5804		8	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760083	0.69763	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.38	5.38	0.77491	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.45137	1.4	0.54753	D	0.999989	D;D;D;B	0.69078	0.997;0.97;0.997;0.196	D;D;D;B	0.80764	0.994;0.976;0.93;0.244	T	0.75328	-0.3356	10	0.66056	D	0.02	.	15.331	0.74212	0.0:0.0:0.0:1.0	.	1935;1935;1934;1935	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4	.;CSMD1_HUMAN;.;.	S	1935;1935;1796;1934;1934;1934	ENSP00000383047:N1935S;ENSP00000430733:N1935S;ENSP00000441462:N1934S;ENSP00000446243:N1934S;ENSP00000441675:N1934S	ENSP00000320445:N1796S	N	-	2	0	CSMD1	3007131	1.000000	0.71417	0.986000	0.45419	0.424000	0.31475	7.263000	0.78421	2.152000	0.67230	0.533000	0.62120	AAC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	61	0	T	NM_033225		3019724	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	C
CSMD3	114788	genome.wustl.edu	37	8	113241029	113241029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:113241029delA	ENST00000297405.5	-	70	11164	c.10920delT	c.(10918-10920)tttfs	p.F3640fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3640						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAGTGCAAAAAAAGGCA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													78.0	81.0	80.0					8																	113241029		2203	4297	6500	SO:0001589	frameshift_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10920delT	8.37:g.113241029delA	ENSP00000297405:p.Phe3640fs		Q96PZ3	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.F3640fs	ENST00000297405.5	37	c.10920	CCDS6315.1	8																																																																																			CSMD3	-	NULL	ENSG00000164796		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0.00	51	0	A	NM_052900		113241029	-1	tier1		no_errors	ENST00000297405	ensembl	human	known	74_37	frame_shift_del	17.78	37	8	DEL	1.000	-
CSNK1A1	1452	genome.wustl.edu	37	5	148875308	148875311	+	3'UTR	DEL	AAAA	AAAA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:148875308_148875311delAAAA	ENST00000377843.2	-	0	2598_2601				CTB-89H12.4_ENST00000412431.2_RNA|CSNK1A1_ENST00000261798.5_3'UTR	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1						cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGCAAGTCATaaaaaaaaaaaaaa	0.324																																					Colon(5;64 69 1309 10383)												0																																										SO:0001624	3_prime_UTR_variant	0			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.*1108TTTT>-	5.37:g.148875316_148875319delAAAA			D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	RNA	DEL	-	NULL	ENST00000377843.2	37	NULL	CCDS47303.1	5																																																																																			CTB-89H12.4	-	-	ENSG00000230551		0.324	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	CSNK1A1	Clone_based_vega_gene	protein_coding			0.00	49	0	AAAA	NM_001892		148875311	-1	tier1		no_errors	ENST00000412431	ensembl	human	known	74_37	rna	16.67	45	9	DEL	0.000:0.004:0.004:0.004	-
CSNK1A1	1452	genome.wustl.edu	37	5	148875718	148875718	+	3'UTR	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:148875718T>C	ENST00000377843.2	-	0	2191				CTB-89H12.4_ENST00000412431.2_RNA|CSNK1A1_ENST00000261798.5_3'UTR|CSNK1A1_ENST00000515435.1_3'UTR|CSNK1A1_ENST00000504676.1_3'UTR	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1						cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACAAATATGCTTTTTTTTTAA	0.294																																					Colon(5;64 69 1309 10383)												0																																										SO:0001624	3_prime_UTR_variant	0			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.*698A>G	5.37:g.148875718T>C			D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	RNA	SNP	-	NULL	ENST00000377843.2	37	NULL	CCDS47303.1	5																																																																																			CTB-89H12.4	-	-	ENSG00000230551		0.294	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	CSNK1A1	Clone_based_vega_gene	protein_coding		-	0.00	57	0	T	NM_001892		148875718	-1	tier1	-	no_errors	ENST00000412431	ensembl	human	known	74_37	rna	12.82	34	5	SNP	0.997	C
CSRNP3	80034	genome.wustl.edu	37	2	166351278	166351278	+	5'UTR	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:166351278A>G	ENST00000314499.7	+	0	104				CSRNP3_ENST00000464503.1_3'UTR	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3						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						GGTACATGTGACAGCGTTGCA	0.438																																																	0																																										SO:0001623	5_prime_UTR_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	ENST00000314499.7:c.-273A>G	2.37:g.166351278A>G			B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	RNA	SNP	-	NULL	ENST00000314499.7	37	NULL	CCDS2225.1	2																																																																																			CSRNP3	-	-	ENSG00000178662		0.438	CSRNP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	HGNC	protein_coding		-	0.00	46	0	A	NM_024969		166351278	+1	tier1	-	no_errors	ENST00000464503	ensembl	human	known	74_37	rna	21.74	36	10	SNP	1.000	G
CTBP1	1487	genome.wustl.edu	37	4	1245880	1245880	+	5'Flank	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:1245880delA	ENST00000290921.6	-	0	0				CTBP1_ENST00000382952.3_5'Flank|CTBP1-AS2_ENST00000507044.1_RNA|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000581398.1_RNA	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GTACACACAGAAAAAAAAACC	0.408																																																	0																																										SO:0001631	upstream_gene_variant	0			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259		4.37:g.1245880delA	Exception_encountered		Q4W5N3|Q7Z2Q5	RNA	DEL	-	NULL	ENST00000290921.6	37	NULL	CCDS3348.1	4																																																																																			CTBP1-AS2	-	-	ENSG00000196810		0.408	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1-AS2	HGNC	protein_coding	OTTHUMT00000202938.1		0.00	33	0	A	NM_001328		1245880	+1	tier1		no_errors	ENST00000581398	ensembl	human	known	74_37	rna	21.43	33	9	DEL	0.000	-
CTC1	80169	genome.wustl.edu	37	17	8135521	8135521	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:8135521A>G	ENST00000315684.8	-	13	2092	c.2085T>C	c.(2083-2085)gcT>gcC	p.A695A		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	695					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TCAGGGCATCAGCCAGAAAGA	0.542																																																	0													22.0	25.0	24.0					17																	8135521		2075	4196	6271	SO:0001819	synonymous_variant	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2085T>C	17.37:g.8135521A>G			B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	NULL	p.A695	ENST00000315684.8	37	c.2085	CCDS42259.1	17																																																																																			CTC1	-	NULL	ENSG00000178971		0.542	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	-	0.00	56	0	A	NM_025099		8135521	-1	tier1	-	no_errors	ENST00000315684	ensembl	human	known	74_37	silent	37.14	22	13	SNP	0.010	G
CTCFL	140690	genome.wustl.edu	37	20	56090790	56090790	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:56090790C>T	ENST00000608263.1	-	5	1821	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	CTCFL_ENST00000371196.2_Missense_Mutation_p.R387H|CTCFL_ENST00000608440.1_Missense_Mutation_p.R387H|CTCFL_ENST00000502686.2_Missense_Mutation_p.R125H|CTCFL_ENST00000429804.3_Missense_Mutation_p.R387H|CTCFL_ENST00000422869.2_Missense_Mutation_p.R387H|CTCFL_ENST00000539382.1_Missense_Mutation_p.R182H|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.R387H|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000423479.3_Missense_Mutation_p.R387H|CTCFL_ENST00000608425.1_Missense_Mutation_p.R387H|CTCFL_ENST00000609232.1_Missense_Mutation_p.R387H|CTCFL_ENST00000433949.3_Missense_Mutation_p.R182H|CTCFL_ENST00000608903.1_Missense_Mutation_p.R125H	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	387					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCTCATGTGGCGTTTCAGCTT	0.483																																																	0													169.0	159.0	163.0					20																	56090790		2203	4300	6503	SO:0001583	missense	0				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1160G>A	20.37:g.56090790C>T	ENSP00000476783:p.Arg387His		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R387H	ENST00000608263.1	37	c.1160	CCDS13459.1	20	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945802	0.92593	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.30981	1.71;1.71;1.71;1.51;1.71;1.71;1.51;1.71;1.71;1.71	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41097	D	0.000942	T	0.59824	0.2222	M	0.80746	2.51	0.50632	D	0.99988	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0	T	0.63994	-0.6511	10	0.66056	D	0.02	-47.4502	17.9608	0.89084	0.0:1.0:0.0:0.0	.	387;387;387;387;387	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	H	387;387;387;387;387;125;387;387;182;387	ENSP00000415579:R387H;ENSP00000243914:R387H;ENSP00000360239:R387H;ENSP00000415329:R387H;ENSP00000392034:R387H;ENSP00000437999:R125H;ENSP00000413713:R387H;ENSP00000403369:R387H;ENSP00000439998:R182H;ENSP00000399061:R387H	ENSP00000243914:R387H	R	-	2	0	CTCFL	55524196	1.000000	0.71417	0.863000	0.33907	0.675000	0.39556	7.493000	0.81493	2.608000	0.88229	0.650000	0.86243	CGC	CTCFL	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124092		0.483	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	-	0.00	49	0	C	NM_080618		56090790	-1	tier1	-	no_errors	ENST00000423479	ensembl	human	known	74_37	missense	28.07	41	16	SNP	0.997	T
CTNNA1	1495	genome.wustl.edu	37	5	138266343	138266343	+	Splice_Site	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:138266343G>A	ENST00000302763.7	+	15	2282	c.2192G>A	c.(2191-2193)cGa>cAa	p.R731Q	CTNNA1_ENST00000518825.1_Splice_Site_p.R731Q|CTNNA1_ENST00000355078.5_Splice_Site_p.R628Q|CTNNA1_ENST00000540387.1_Splice_Site_p.R361Q	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	731					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACTTTACCCGGTGAGCAGCA	0.577																																																	0													128.0	124.0	125.0					5																	138266343		2203	4300	6503	SO:0001630	splice_region_variant	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2192+1G>A	5.37:g.138266343G>A			Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R731Q	ENST00000302763.7	37	c.2192	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012781	0.93346	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387;ENST00000520520	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;P;D	0.70716	0.97;0.903;0.929	T	0.77368	-0.2614	10	0.62326	D	0.03	-5.7916	19.9422	0.97170	0.0:0.0:1.0:0.0	.	731;608;731	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	Q	628;731;731;716;731;361;6	ENSP00000347190:R628Q;ENSP00000304669:R731Q;ENSP00000427821:R731Q;ENSP00000438476:R361Q;ENSP00000430076:R6Q	ENSP00000304669:R731Q	R	+	2	0	CTNNA1	138294242	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	9.337000	0.96545	2.884000	0.98904	0.655000	0.94253	CGA	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	ENSG00000044115		0.577	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	-	0.00	24	0	G	NM_001903	Missense_Mutation	138266343	+1	tier1	-	no_errors	ENST00000302763	ensembl	human	known	74_37	missense	41.67	7	5	SNP	1.000	A
CTNNA2	1496	genome.wustl.edu	37	2	79914694	79914694	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:79914694delT	ENST00000402739.4	+	1	107				CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000409266.1_Frame_Shift_Del_p.I36fs	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2						axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTGCAGTGCATTTTTTTTTCC	0.348																																																	0																																										SO:0001627	intron_variant	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.102+35910T>-	2.37:g.79914694delT			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Frame_Shift_Del	DEL	superfamily_Vinculin/catenin	p.S39fs	ENST00000402739.4	37	c.107		2																																																																																			CTNNA2	-	NULL	ENSG00000066032		0.348	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4		0.00	76	0	T	NM_004389		79914694	+1	tier1		no_errors	ENST00000409266	ensembl	human	putative	74_37	frame_shift_del	20.55	58	15	DEL	0.005	-
CTNNB1	1499	genome.wustl.edu	37	3	41275790	41275790	+	Splice_Site	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:41275790T>C	ENST00000349496.5	+	10	1963		c.e10+2		CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000453024.1_Splice_Site|CTNNB1_ENST00000396185.3_Splice_Site|CTNNB1_ENST00000396183.3_Splice_Site	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa						adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CAATTTGTGGTAGGTAAATTC	0.483		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	0													102.0	87.0	92.0					3																	41275790		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1683+2T>C	3.37:g.41275790T>C			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Splice_Site	SNP	-	e9+2	ENST00000349496.5	37	c.1683+2	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	T	12.09	1.834740	0.32421	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9075	0.79442	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNNB1	41250794	1.000000	0.71417	0.941000	0.38009	0.171000	0.22731	7.992000	0.88273	2.158000	0.67659	0.533000	0.62120	.	CTNNB1	-	-	ENSG00000168036		0.483	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2		0.00	32	0	T	NM_001098210	Intron	41275790	+1			no_errors	ENST00000349496	ensembl	human	known	74_37	splice_site	20.00	32	8	SNP	1.000	C
CTNNBL1	56259	genome.wustl.edu	37	20	36361416	36361416	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:36361416delA	ENST00000361383.6	+	2	283	c.166delA	c.(166-168)aaafs	p.K57fs	CTNNBL1_ENST00000405275.2_Frame_Shift_Del_p.K30fs	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	57					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGATGATGACAAAAAAAGGCT	0.532																																					Ovarian(184;582 2038 3273 4106 42608)												0													57.0	50.0	52.0					20																	36361416		2203	4300	6503	SO:0001589	frameshift_variant	0			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.166delA	20.37:g.36361416delA	ENSP00000355050:p.Lys57fs		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Frame_Shift_Del	DEL	pfam_CTNNBL1_N,superfamily_ARM-type_fold	p.R31fs	ENST00000361383.6	37	c.85	CCDS13298.1	20																																																																																			CTNNBL1	-	pfam_CTNNBL1_N	ENSG00000132792		0.532	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1		0.00	40	0	A	NM_030877		36361416	+1	tier1		no_errors	ENST00000405275	ensembl	human	known	74_37	frame_shift_del	14.29	42	7	DEL	1.000	-
CTRC	11330	genome.wustl.edu	37	1	15766805	15766805	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:15766805G>A	ENST00000375949.4	+	2	76	c.50G>A	c.(49-51)tGt>tAt	p.C17Y	CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	17					proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCAGCTGTGGGGTGCCC	0.662																																																	0													13.0	15.0	14.0					1																	15766805		2196	4291	6487	SO:0001583	missense	0			BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"""elastase 4"""	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.50G>A	1.37:g.15766805G>A	ENSP00000365116:p.Cys17Tyr		A8K082|O00765|Q9NUH5	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.C17Y	ENST00000375949.4	37	c.50	CCDS156.1	1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.229166	0.58777	.	.	ENSG00000162438	ENST00000375949	D	0.95035	-3.59	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);	0.047739	0.85682	D	0.000000	D	0.96617	0.8896	M	0.76328	2.33	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.63033	0.91;0.91	D	0.96755	0.9557	10	0.59425	D	0.04	-24.1554	16.898	0.86106	0.0:0.0:1.0:0.0	.	17;17	A8MTQ9;Q99895	.;CTRC_HUMAN	Y	17	ENSP00000365116:C17Y	ENSP00000365116:C17Y	C	+	2	0	CTRC	15639392	1.000000	0.71417	0.988000	0.46212	0.289000	0.27227	7.504000	0.81646	2.573000	0.86826	0.655000	0.94253	TGT	CTRC	-	superfamily_Trypsin-like_Pept_dom	ENSG00000162438		0.662	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTRC	HGNC	protein_coding	OTTHUMT00000006435.1	-	0.00	67	0	G	NM_007272		15766805	+1	tier1	-	no_errors	ENST00000375949	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	A
CTRL	1506	genome.wustl.edu	37	16	67965003	67965003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:67965003G>A	ENST00000574481.1	-	2	715	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	CTRL_ENST00000576408.1_Intron|CTC-479C5.12_ENST00000573493.1_Intron	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	52	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGGTGTACCTGCAGGGACACC	0.637																																																	0													70.0	59.0	63.0					16																	67965003		2198	4300	6498	SO:0001587	stop_gained	0				CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.154C>T	16.37:g.67965003G>A	ENSP00000458537:p.Gln52*			Nonsense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q52*	ENST00000574481.1	37	c.154	CCDS10852.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.596422	0.98381	.	.	ENSG00000141086	ENST00000319955	.	.	.	5.37	3.29	0.37713	.	0.633406	0.15370	U	0.265890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.8771	0.41211	0.0725:0.0:0.7888:0.1387	.	.	.	.	X	52	.	ENSP00000322629:Q52X	Q	-	1	0	CTRL	66522504	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.208000	0.72165	1.271000	0.44313	0.655000	0.94253	CAG	CTRL	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000141086		0.637	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTRL	HGNC	protein_coding	OTTHUMT00000268886.3	-	0.00	52	0	G			67965003	-1	tier1	-	no_errors	ENST00000574481	ensembl	human	known	74_37	nonsense	25.00	48	16	SNP	1.000	A
CUBN	8029	genome.wustl.edu	37	10	16878296	16878296	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:16878296A>G	ENST00000377833.4	-	63	10183	c.10118T>C	c.(10117-10119)gTc>gCc	p.V3373A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3373	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTGAAAATGACCATTGCAGT	0.398																																																	0													72.0	72.0	72.0					10																	16878296		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10118T>C	10.37:g.16878296A>G	ENSP00000367064:p.Val3373Ala		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.V3373A	ENST00000377833.4	37	c.10118	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985876	0.74589	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.44482	0.92	5.03	3.9	0.45041	CUB (5);	0.000000	0.34178	N	0.004182	T	0.51126	0.1656	M	0.74881	2.28	0.27271	N	0.958368	D	0.53462	0.96	P	0.51266	0.664	T	0.51252	-0.8729	10	0.87932	D	0	.	9.2513	0.37557	0.9175:0.0:0.0825:0.0	.	3373	O60494	CUBN_HUMAN	A	3373;214	ENSP00000367064:V3373A	ENSP00000367064:V3373A	V	-	2	0	CUBN	16918302	0.387000	0.25188	0.002000	0.10522	0.630000	0.37929	5.340000	0.65958	0.768000	0.33290	0.459000	0.35465	GTC	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0.00	62	0	A	NM_001081		16878296	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	19.51	32	8	SNP	0.011	G
CUL1	8454	genome.wustl.edu	37	7	148480914	148480914	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:148480914delA	ENST00000325222.4	+	10	1402	c.1123delA	c.(1123-1125)aaafs	p.K376fs	CUL1_ENST00000409469.1_Frame_Shift_Del_p.K376fs|CUL1_ENST00000602748.1_Frame_Shift_Del_p.K376fs	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	376					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGATGTTCATAAAAAATACAA	0.413																																																	0													148.0	135.0	139.0					7																	148480914		2203	4300	6503	SO:0001589	frameshift_variant	0			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1123delA	7.37:g.148480914delA	ENSP00000326804:p.Lys376fs		D3DWG3|O60719|Q08AL6|Q8IYW1	Frame_Shift_Del	DEL	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.K376fs	ENST00000325222.4	37	c.1123	CCDS34772.1	7																																																																																			CUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000055130		0.413	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1		0.00	63	0	A	NM_003592		148480914	+1	tier1		no_errors	ENST00000325222	ensembl	human	known	74_37	frame_shift_del	17.81	60	13	DEL	1.000	-
CUL4B	8450	genome.wustl.edu	37	X	119672333	119672333	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:119672333delA	ENST00000404115.3	-	15	2308				CUL4B_ENST00000371322.5_Intron|CUL4B_ENST00000336592.6_Intron	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B						cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTTTATCTTAAAAAAAACAA	0.274																																																	0																																										SO:0001627	intron_variant	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1906+181T>-	X.37:g.119672333delA			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	RNA	DEL	-	NULL	ENST00000404115.3	37	NULL	CCDS35379.1	X																																																																																			CUL4B	-	-	ENSG00000158290		0.274	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1		0.00	19	0	A	NM_003588		119672333	-1	tier1		no_errors	ENST00000497616	ensembl	human	known	74_37	rna	25.00	15	5	DEL	0.000	-
CWH43	80157	genome.wustl.edu	37	4	48994006	48994006	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:48994006G>A	ENST00000226432.4	+	4	593	c.410G>A	c.(409-411)cGc>cAc	p.R137H	CWH43_ENST00000513409.1_Missense_Mutation_p.R110H	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	137					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.R137H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTTGTTCTACGCATATGGTAT	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											189.0	171.0	177.0					4																	48994006		2203	4300	6503	SO:0001583	missense	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.410G>A	4.37:g.48994006G>A	ENSP00000226432:p.Arg137His		B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.R137H	ENST00000226432.4	37	c.410	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179912	0.78564	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.52295	1.26;0.67	5.42	4.58	0.56647	.	0.000000	0.56097	D	0.000021	T	0.65015	0.2651	M	0.67953	2.075	0.39571	D	0.969276	D	0.89917	1.0	D	0.91635	0.999	T	0.67639	-0.5619	9	.	.	.	.	12.8683	0.57951	0.075:0.0:0.925:0.0	.	137	Q9H720	PG2IP_HUMAN	H	137;110	ENSP00000226432:R137H;ENSP00000422802:R110H	.	R	+	2	0	CWH43	48688763	0.874000	0.30092	0.997000	0.53966	0.976000	0.68499	3.520000	0.53465	1.531000	0.49152	0.491000	0.48974	CGC	CWH43	-	NULL	ENSG00000109182		0.373	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2		0.00	43	0	G	NM_025087		48994006	+1			no_errors	ENST00000226432	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.987	A
CWH43	80157	genome.wustl.edu	37	4	49063827	49063827	+	Splice_Site	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:49063827A>T	ENST00000226432.4	+	16	2204		c.e16-1		CWH43_ENST00000513409.1_Splice_Site	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)						GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ttatttttttaGATTTGGATC	0.234																																																	0													14.0	14.0	14.0					4																	49063827		2130	4159	6289	SO:0001630	splice_region_variant	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.2022-1A>T	4.37:g.49063827A>T			B2RPD7	Splice_Site	SNP	-	e16-2	ENST00000226432.4	37	c.2022-2	CCDS3486.1	4																																																																																			CWH43	-	-	ENSG00000109182		0.234	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	-	0.00	103	0	A	NM_025087	Intron	49063827	+1	tier1	-	no_errors	ENST00000226432	ensembl	human	known	74_37	splice_site	37.78	55	34	SNP	0.993	T
CXADRP3	440224	genome.wustl.edu	37	18	14478405	14478405	+	lincRNA	SNP	C	C	T	rs528190459		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:14478405C>T	ENST00000581457.1	-	0	1503					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		AGCGGACGTACGGCTCTTTGG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20253	0.0		0.0	False		,,,				2504	0.001																0																																												0					18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478405C>T				RNA	SNP	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			CXADRP3	-	-	ENSG00000265766		0.448	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	HGNC	lincRNA	OTTHUMT00000443008.1	-	0.00	36	0	C	NR_024076		14478405	-1	tier1	-	no_errors	ENST00000581457	ensembl	human	known	74_37	rna	27.59	21	8	SNP	0.998	T
CXADRP3	440224	genome.wustl.edu	37	18	14478662	14478662	+	lincRNA	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:14478662delT	ENST00000581457.1	-	0	1246					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		AGAAGAAGCATTTTTTTACAG	0.413																																																	0																																												0					18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478662delT				RNA	DEL	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			CXADRP3	-	-	ENSG00000265766		0.413	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	HGNC	lincRNA	OTTHUMT00000443008.1		0.00	44	0	T	NR_024076		14478662	-1	tier1		no_errors	ENST00000581457	ensembl	human	known	74_37	rna	30.43	32	14	DEL	0.487	-
CXXC5	51523	genome.wustl.edu	37	5	139060907	139060907	+	Missense_Mutation	SNP	G	G	A	rs372142920		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:139060907G>A	ENST00000302517.3	+	2	1513	c.799G>A	c.(799-801)Gcg>Acg	p.A267T	CXXC5_ENST00000511048.1_Missense_Mutation_p.A267T|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	267					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCATGTGCGCGCCCTGCCG	0.592																																																	0								G	THR/ALA	0,4062		0,0,2031	53.0	63.0	60.0		799	3.2	1.0	5		60	1,8371		0,1,4185	no	missense	CXXC5	NM_016463.7	58	0,1,6216	AA,AG,GG		0.0119,0.0,0.0080	benign	267/323	139060907	1,12433	2031	4186	6217	SO:0001583	missense	0			AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.799G>A	5.37:g.139060907G>A	ENSP00000302543:p.Ala267Thr		B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.A267T	ENST00000302517.3	37	c.799	CCDS43370.1	5	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018079	0.54576	0.0	1.19E-4	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	5.04	3.16	0.36331	Zinc finger, CXXC-type (2);	0.114726	0.64402	D	0.000013	T	0.39989	0.1099	L	0.29908	0.895	0.33460	D	0.584869	B	0.28820	0.224	B	0.24848	0.056	T	0.52283	-0.8596	9	0.38643	T	0.18	-7.4811	14.4092	0.67103	0.0:0.431:0.5689:0.0	.	267	Q7LFL8	CXXC5_HUMAN	T	267	.	ENSP00000302543:A267T	A	+	1	0	CXXC5	139041091	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.482000	0.53186	1.083000	0.41159	0.505000	0.49811	GCG	CXXC5	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000171604		0.592	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC5	HGNC	protein_coding	OTTHUMT00000372744.1	-	0.00	52	0	G	NM_016463		139060907	+1	tier1	-	no_errors	ENST00000302517	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	A
CXXC5	51523	genome.wustl.edu	37	5	139062642	139062642	+	3'UTR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:139062642delT	ENST00000302517.3	+	0	1833				CXXC5_ENST00000511048.1_3'UTR|CTB-35F21.1_ENST00000515296.1_lincRNA|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5						positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATATATATATTTTTTGTTGT	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.*150T>-	5.37:g.139062642delT			B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	RNA	DEL	-	NULL	ENST00000302517.3	37	NULL	CCDS43370.1	5																																																																																			CXXC5	-	-	ENSG00000171604		0.348	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC5	HGNC	protein_coding	OTTHUMT00000372744.1		0.00	66	0	T	NM_016463		139062642	+1	tier1		no_errors	ENST00000505812	ensembl	human	known	74_37	rna	23.53	39	12	DEL	1.000	-
PRR32	100130613	genome.wustl.edu	37	X	125954833	125954833	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:125954833A>G	ENST00000371125.3	+	2	292	c.212A>G	c.(211-213)gAg>gGg	p.E71G		NM_001122716.1	NP_001116188.1	B1ATL7	PRR32_HUMAN		71																	AAGCAACTGGAGTGGCCCTCT	0.542																																																	0													105.0	81.0	89.0					X																	125954833		692	1591	2283	SO:0001583	missense	0																														ENST00000371125.3:c.212A>G	X.37:g.125954833A>G	ENSP00000360166:p.Glu71Gly			Missense_Mutation	SNP	NULL	p.E71G	ENST00000371125.3	37	c.212	CCDS48163.1	X	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732715	0.48939	.	.	ENSG00000183631	ENST00000371125	T	0.45668	0.89	4.1	1.54	0.23209	.	.	.	.	.	T	0.30198	0.0757	L	0.27053	0.805	0.09310	N	1	P	0.36535	0.557	B	0.39419	0.299	T	0.20273	-1.0280	9	0.87932	D	0	.	5.9756	0.19377	0.5747:0.0:0.0:0.4253	.	71	B1ATL7	CX064_HUMAN	G	71	ENSP00000360166:E71G	ENSP00000360166:E71G	E	+	2	0	CXorf64	125782514	0.090000	0.21635	0.000000	0.03702	0.007000	0.05969	1.004000	0.29822	0.190000	0.20209	0.486000	0.48141	GAG	CXorf64	-	NULL	ENSG00000183631		0.542	CXorf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf64	HGNC	protein_coding	OTTHUMT00000058188.1		0.00	52	0	A			125954833	+1			no_errors	ENST00000371125	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	G
CYLD	1540	genome.wustl.edu	37	16	50826572	50826572	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:50826572delT	ENST00000427738.3	+	15	2511	c.2306delT	c.(2305-2307)attfs	p.I769fs	CYLD_ENST00000568704.2_Frame_Shift_Del_p.I584fs|CYLD_ENST00000540145.1_Frame_Shift_Del_p.I769fs|CYLD_ENST00000566206.1_Frame_Shift_Del_p.I766fs|CYLD_ENST00000398568.2_Frame_Shift_Del_p.I766fs|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000311559.9_Frame_Shift_Del_p.I769fs|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Frame_Shift_Del_p.I766fs|CYLD_ENST00000569418.1_Frame_Shift_Del_p.I766fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	769	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTTAAAAAAATTTTTCCTTCT	0.274			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													32.0	30.0	31.0					16																	50826572		1771	4036	5807	SO:0001589	frameshift_variant	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2306delT	16.37:g.50826572delT	ENSP00000392025:p.Ile769fs		O94934|Q7L3N6|Q96EH0|Q9NZX9	Frame_Shift_Del	DEL	pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67	p.P771fs	ENST00000427738.3	37	c.2306	CCDS45482.1	16																																																																																			CYLD	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000083799		0.274	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2		0.00	46	0	T			50826572	+1	tier1		no_errors	ENST00000311559	ensembl	human	known	74_37	frame_shift_del	17.24	24	5	DEL	1.000	-
CYBA	1535	genome.wustl.edu	37	16	88709879	88709879	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:88709879G>A	ENST00000261623.3	-	6	608	c.470C>T	c.(469-471)cCg>cTg	p.P157L		NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	157	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|cytochrome complex assembly (GO:0017004)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|negative regulation of glomerular filtration by angiotensin (GO:0003106)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of cell growth (GO:0030307)|positive regulation of endothelial cell proliferation (GO:0001938)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|response to nutrient levels (GO:0031667)|smooth muscle hypertrophy (GO:0014895)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|secretory granule (GO:0030141)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)	Dextromethorphan(DB00514)	cgggggccgcggcggggggTT	0.766																																																	0													1.0	2.0	2.0					16																	88709879		1078	2672	3750	SO:0001583	missense	0				CCDS32504.1	16q24	2014-09-17				ENSG00000051523		"""Cytochrome b genes"""	2577	protein-coding gene	gene with protein product	"""flavocytochrome b-558 alpha polypeptide"""	608508				2243141	Standard	NM_000101		Approved	p22-PHOX	uc002flb.4	P13498		ENST00000261623.3:c.470C>T	16.37:g.88709879G>A	ENSP00000261623:p.Pro157Leu		Q14090|Q9BR72	Missense_Mutation	SNP	pfam_Cyt_b558_asu,pirsf_Cyt_b558_asu	p.P157L	ENST00000261623.3	37	c.470	CCDS32504.1	16	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127106	0.77549	.	.	ENSG00000051523	ENST00000261623	D	0.91295	-2.82	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95886	0.8903	10	0.87932	D	0	-14.1063	15.1105	0.72351	0.0:0.0:1.0:0.0	.	157	P13498	CY24A_HUMAN	L	157	ENSP00000261623:P157L	ENSP00000261623:P157L	P	-	2	0	CYBA	87237380	1.000000	0.71417	0.526000	0.27913	0.597000	0.36814	6.038000	0.70964	2.321000	0.78463	0.491000	0.48974	CCG	CYBA	-	pfam_Cyt_b558_asu,pirsf_Cyt_b558_asu	ENSG00000051523		0.766	CYBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBA	HGNC	protein_coding	OTTHUMT00000422765.1	-	0.00	18	0	G	NM_000101		88709879	-1	tier1	-	no_errors	ENST00000261623	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.937	A
CYP11B2	1585	genome.wustl.edu	37	8	143994125	143994125	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:143994125G>T	ENST00000323110.2	-	8	1221	c.1219C>A	c.(1219-1221)Ctc>Atc	p.L407I		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	407					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AGCGAGTAGAGGAAAACCTGT	0.617									Familial Hyperaldosteronism type I																																								0													95.0	90.0	92.0					8																	143994125		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1219C>A	8.37:g.143994125G>T	ENSP00000325822:p.Leu407Ile		B0ZBE4|Q16726	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.L407I	ENST00000323110.2	37	c.1219	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	18.38	3.611583	0.66558	.	.	ENSG00000179142	ENST00000323110	T	0.70164	-0.46	3.52	3.52	0.40303	.	0.000000	0.43919	D	0.000504	T	0.59959	0.2232	L	0.35793	1.09	0.47698	D	0.999492	P	0.35174	0.488	B	0.42625	0.393	T	0.56135	-0.8029	10	0.22109	T	0.4	.	12.9218	0.58237	0.0:0.0:1.0:0.0	.	407	P19099	C11B2_HUMAN	I	407	ENSP00000325822:L407I	ENSP00000325822:L407I	L	-	1	0	CYP11B2	143991127	1.000000	0.71417	0.017000	0.16124	0.004000	0.04260	3.723000	0.54955	1.937000	0.56155	0.563000	0.77884	CTC	CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B	ENSG00000179142		0.617	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	-	0.00	105	0	G			143994125	-1	tier1	-	no_errors	ENST00000323110	ensembl	human	known	74_37	missense	9.02	111	11	SNP	0.881	T
CYP17A1	1586	genome.wustl.edu	37	10	104590640	104590640	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:104590640C>T	ENST00000369887.3	-	8	1517	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H	CYP17A1_ENST00000489268.1_5'Flank|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	449					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GAGCTCCTGGCGGGCCAGGAT	0.602																																																	0													33.0	27.0	29.0					10																	104590640		2203	4297	6500	SO:0001583	missense	0			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.1346G>A	10.37:g.104590640C>T	ENSP00000358903:p.Arg449His		Q5TZV7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R449H	ENST00000369887.3	37	c.1346	CCDS7541.1	10	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838765	0.91117	.	.	ENSG00000148795	ENST00000369887	T	0.70516	-0.49	5.62	5.62	0.85841	.	0.095489	0.64402	D	0.000001	T	0.80221	0.4583	M	0.65677	2.01	0.41865	D	0.990249	D	0.89917	1.0	D	0.87578	0.998	T	0.81720	-0.0804	10	0.87932	D	0	.	7.7431	0.28853	0.0:0.8021:0.0:0.1979	.	449	P05093	CP17A_HUMAN	H	449	ENSP00000358903:R449H	ENSP00000358903:R449H	R	-	2	0	CYP17A1	104580630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.601000	0.67606	2.650000	0.89964	0.555000	0.69702	CGC	CYP17A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	ENSG00000148795		0.602	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1	HGNC	protein_coding	OTTHUMT00000050101.1	-	0.00	54	0	C	NM_000102		104590640	-1	tier1	-	no_errors	ENST00000369887	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	T
CYP2D6	1565	genome.wustl.edu	37	22	42524306	42524306	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:42524306C>T	ENST00000360608.5	-	5	827	c.713G>A	c.(712-714)gGc>gAc	p.G238D	CYP2D6_ENST00000389970.3_Missense_Mutation_p.G238D|CYP2D6_ENST00000359033.4_Missense_Mutation_p.G187D|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000417327.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	238					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TAGGACCTTGCCAGCCAGCGC	0.607																																																	0													61.0	54.0	57.0					22																	42524306		2199	4300	6499	SO:0001583	missense	0			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.713G>A	22.37:g.42524306C>T	ENSP00000353820:p.Gly238Asp		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G238D	ENST00000360608.5	37	c.713	CCDS46721.1	22	.	.	.	.	.	.	.	.	.	.	C	3.206	-0.162707	0.06502	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.79247	-1.25;-1.25;-0.37	4.55	-9.09	0.00717	.	1.896570	0.02214	N	0.063399	T	0.45895	0.1365	N	0.04018	-0.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.52079	-0.8623	10	0.05721	T	0.95	.	4.9434	0.13976	0.0903:0.2197:0.1105:0.5796	.	187;238	Q6NXU8;Q6NWU0	.;.	D	238;238;184;187;187	ENSP00000353820:G238D;ENSP00000374620:G238D;ENSP00000351927:G187D	ENSP00000351927:G187D	G	-	2	0	CYP2D6	40854250	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.478000	0.02329	-1.290000	0.02372	-0.350000	0.07774	GGC	CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000100197		0.607	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1		0.00	53	0	C			42524306	-1			no_errors	ENST00000360608	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T
CYP2E1	1571	genome.wustl.edu	37	10	135352525	135352525	+	3'UTR	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:135352525G>T	ENST00000463117.2	+	0	1811				SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1						drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AATTGTTTGAGGTCAGGATTT	0.368									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0																																										SO:0001624	3_prime_UTR_variant	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.*57G>T	10.37:g.135352525G>T			Q5VZD5|Q6NWT9|Q9UK47	RNA	SNP	-	NULL	ENST00000463117.2	37	NULL	CCDS7686.1	10																																																																																			CYP2E1	-	-	ENSG00000130649		0.368	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	-	0.00	52	0	G	NM_000773		135352525	+1	tier1	-	no_errors	ENST00000469258	ensembl	human	known	74_37	rna	36.84	24	14	SNP	0.001	T
CYP2F1	1572	genome.wustl.edu	37	19	41633836	41633836	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:41633836C>T	ENST00000331105.2	+	10	1397	c.1325C>T	c.(1324-1326)gCg>gTg	p.A442V		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	442					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GAGTCGCTGGCGCGCATGGAG	0.642																																																	0													14.0	16.0	15.0					19																	41633836		2199	4288	6487	SO:0001583	missense	0			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1325C>T	19.37:g.41633836C>T	ENSP00000333534:p.Ala442Val		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A442V	ENST00000331105.2	37	c.1325	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	c	13.49	2.253941	0.39896	.	.	ENSG00000197446	ENST00000331105	D	0.87650	-2.28	3.1	2.03	0.26663	.	0.000000	0.85682	U	0.000000	D	0.87716	0.6247	H	0.95294	3.65	0.49389	D	0.999783	P	0.38992	0.653	B	0.26416	0.069	D	0.86729	0.1947	10	0.87932	D	0	.	9.9664	0.41727	0.0:0.7911:0.2089:0.0	.	442	P24903	CP2F1_HUMAN	V	442	ENSP00000333534:A442V	ENSP00000333534:A442V	A	+	2	0	CYP2F1	46325676	0.849000	0.29639	0.909000	0.35828	0.335000	0.28730	2.222000	0.42926	0.513000	0.28278	0.089000	0.15464	GCG	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	ENSG00000197446		0.642	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	-	0.00	80	0	C			41633836	+1	tier1	-	no_errors	ENST00000331105	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	T
CYP3A43	64816	genome.wustl.edu	37	7	99457552	99457552	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:99457552C>T	ENST00000354829.2	+	10	1068	c.965C>T	c.(964-966)gCc>gTc	p.A322V	CYP3A43_ENST00000312017.5_Missense_Mutation_p.A322V|CYP3A43_ENST00000417625.1_Missense_Mutation_p.A212V|CYP3A43_ENST00000222382.5_Missense_Mutation_p.A322V|CYP3A43_ENST00000342499.4_Missense_Mutation_p.A182V|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Missense_Mutation_p.A69V|CYP3A43_ENST00000415413.1_Missense_Mutation_p.A111V	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	322			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TATGAACTGGCCACTCACCCT	0.493																																																	0													159.0	145.0	150.0					7																	99457552		2203	4300	6503	SO:0001583	missense	0			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.965C>T	7.37:g.99457552C>T	ENSP00000346887:p.Ala322Val		Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.A322V	ENST00000354829.2	37	c.965	CCDS5676.1	7	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139380	0.77775	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	2.49	2.49	0.30216	.	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	M	0.88241	2.94	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.989;0.964;0.982;0.982	D	0.86610	0.1872	10	0.87932	D	0	.	11.0606	0.47944	0.0:1.0:0.0:0.0	.	212;182;322;322;322	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	V	322;212;182;69;111;322;322	ENSP00000346887:A322V;ENSP00000416581:A212V;ENSP00000345351:A182V;ENSP00000405557:A69V;ENSP00000401521:A111V;ENSP00000312110:A322V;ENSP00000222382:A322V	ENSP00000222382:A322V	A	+	2	0	CYP3A43	99295488	1.000000	0.71417	0.972000	0.41901	0.916000	0.54674	6.984000	0.76186	1.694000	0.51137	0.205000	0.17691	GCC	CYP3A43	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000021461		0.493	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	HGNC	protein_coding	OTTHUMT00000344379.1	-	0.00	106	0	C			99457552	+1	tier1	-	no_errors	ENST00000222382	ensembl	human	known	74_37	missense	28.24	61	24	SNP	1.000	T
CYP4F35P	284233	genome.wustl.edu	37	18	14339551	14339551	+	lincRNA	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:14339551C>A	ENST00000582957.1	+	0	1515					NR_026756.1				cytochrome P450, family 4, subfamily F, polypeptide 35, pseudogene																		GTCAGGGGCCCTGTCCTCAAC	0.547																																																	0																																												0					18p11.21	2013-11-11			ENSG00000265787	ENSG00000265787		"""Cytochrome P450s"""	39954	pseudogene	pseudogene							Standard	NR_026756		Approved	CYP4F-se8[6:7:8]	uc002ktb.3		OTTHUMG00000178670		18.37:g.14339551C>A				RNA	SNP	-	NULL	ENST00000582957.1	37	NULL		18																																																																																			CYP4F35P	-	-	ENSG00000265787		0.547	CYP4F35P-001	KNOWN	basic	lincRNA	CYP4F35P	HGNC	lincRNA	OTTHUMT00000442865.1	-	0.00	35	0	C	NR_026756		14339551	+1	tier1	-	no_errors	ENST00000582957	ensembl	human	known	74_37	rna	31.43	24	11	SNP	0.052	A
CYS1	192668	genome.wustl.edu	37	2	10199034	10199034	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:10199034G>A	ENST00000381813.4	-	3	610	c.423C>T	c.(421-423)taC>taT	p.Y141Y	CYS1_ENST00000477304.1_5'UTR	NM_001037160.2	NP_001032237.1	Q717R9	CYS1_HUMAN	cystin 1	141						cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				large_intestine(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)		CCGAGTGGTCGTAGGAGATGG	0.667																																																	0													27.0	26.0	26.0					2																	10199034		2203	4299	6502	SO:0001819	synonymous_variant	0			AF544983, AA446394	CCDS33145.1	2p25.1	2012-10-02			ENSG00000205795	ENSG00000205795			18525	protein-coding gene	gene with protein product						12733055, 11854326	Standard	NM_001037160		Approved		uc002rag.2	Q717R9	OTTHUMG00000151703	ENST00000381813.4:c.423C>T	2.37:g.10199034G>A				Silent	SNP	NULL	p.Y141	ENST00000381813.4	37	c.423	CCDS33145.1	2																																																																																			CYS1	-	NULL	ENSG00000205795		0.667	CYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYS1	HGNC	protein_coding	OTTHUMT00000323537.1	-	0.00	90	0	G			10199034	-1	tier1	-	no_errors	ENST00000381813	ensembl	human	known	74_37	silent	14.63	69	12	SNP	0.030	A
DAB1	1600	genome.wustl.edu	37	1	57538024	57538024	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:57538024G>A	ENST00000371231.1	-	4	404	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	DAB1_ENST00000420954.2_Missense_Mutation_p.R124W|DAB1_ENST00000371234.4_Missense_Mutation_p.R124W|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.R124W|DAB1_ENST00000414851.2_Missense_Mutation_p.R124W|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371230.1_Missense_Mutation_p.R124W			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	124	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCAAAGGCCCGGTGATCTGTA	0.443																																																	0													127.0	122.0	124.0					1																	57538024		2203	4300	6503	SO:0001583	missense	0			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.370C>T	1.37:g.57538024G>A	ENSP00000360275:p.Arg124Trp		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.R124W	ENST00000371231.1	37	c.370		1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492379	0.64074	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000371231;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.84	4.91	0.64330	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.82148	0.4974	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.979;0.998;0.976;0.97	D	0.85010	0.0905	10	0.87932	D	0	-24.2097	16.1875	0.81962	0.0:0.0:0.8659:0.1341	.	124;124;124;124	O75553-4;O75553;O75553-6;O75553-5	.;DAB1_HUMAN;.;.	W	124	ENSP00000360280:R124W;ENSP00000360278:R124W;ENSP00000395296:R124W;ENSP00000387581:R124W;ENSP00000360275:R124W;ENSP00000329120:R124W;ENSP00000360274:R124W	ENSP00000329120:R124W	R	-	1	2	DAB1	57310612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.022000	0.64078	1.436000	0.47453	0.591000	0.81541	CGG	DAB1	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000173406		0.443	DAB1-010	KNOWN	basic	protein_coding	DAB1	HGNC	protein_coding	OTTHUMT00000027962.1	-	0.00	61	0	G	NM_021080		57538024	-1	tier1	-	no_errors	ENST00000371231	ensembl	human	known	74_37	missense	21.74	54	15	SNP	1.000	A
DAK	26007	genome.wustl.edu	37	11	61109365	61109365	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:61109365C>T	ENST00000394900.3	+	7	865	c.636C>T	c.(634-636)gaC>gaT	p.D212D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	212	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCTCAGCCGACGAGGTGGAGC	0.592																																																	0													107.0	99.0	102.0					11																	61109365		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.636C>T	11.37:g.61109365C>T			Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP	p.D212	ENST00000394900.3	37	c.636	CCDS8003.1	11																																																																																			DAK	-	pfam_Dak1,tigrfam_DhaK_ATP	ENSG00000149476		0.592	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAK	HGNC	protein_coding	OTTHUMT00000394425.4	-	0.00	38	0	C	NM_015533		61109365	+1	tier1	-	no_errors	ENST00000394900	ensembl	human	known	74_37	silent	21.15	41	11	SNP	0.200	T
DAGLA	747	genome.wustl.edu	37	11	61493483	61493483	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:61493483G>A	ENST00000257215.5	+	6	681	c.565G>A	c.(565-567)Ggt>Agt	p.G189S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	189					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTTAGAGGAGGGTCAAGCCAC	0.612																																																	0													93.0	85.0	88.0					11																	61493483		2202	4299	6501	SO:0001583	missense	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.565G>A	11.37:g.61493483G>A	ENSP00000257215:p.Gly189Ser		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.G189S	ENST00000257215.5	37	c.565	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.180964	0.94846	.	.	ENSG00000134780	ENST00000257215	T	0.23147	1.92	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.22977	-1.0201	10	0.39692	T	0.17	-10.2922	17.2282	0.86977	0.0:0.0:1.0:0.0	.	189	Q9Y4D2	DGLA_HUMAN	S	189	ENSP00000257215:G189S	ENSP00000257215:G189S	G	+	1	0	DAGLA	61250059	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.128000	0.94424	2.151000	0.67156	0.462000	0.41574	GGT	DAGLA	-	NULL	ENSG00000134780		0.612	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1		0.00	30	0	G	NM_006133		61493483	+1			no_errors	ENST00000257215	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A
DAPK1	1612	genome.wustl.edu	37	9	90321327	90321327	+	Missense_Mutation	SNP	G	G	A	rs375598719		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:90321327G>A	ENST00000408954.3	+	26	3676	c.3341G>A	c.(3340-3342)cGc>cAc	p.R1114H	DAPK1_ENST00000491893.1_Missense_Mutation_p.R1048H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1114H|DAPK1_ENST00000469640.2_Missense_Mutation_p.R1139H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R1114H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1114					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AACCTGCACCGCTCCTGGGCT	0.617									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0								G	HIS/ARG	0,4392		0,0,2196	87.0	100.0	95.0		3341	4.9	1.0	9		95	1,8583		0,1,4291	no	missense	DAPK1	NM_004938.2	29	0,1,6487	AA,AG,GG		0.0116,0.0,0.0077	benign	1114/1431	90321327	1,12975	2196	4292	6488	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3341G>A	9.37:g.90321327G>A	ENSP00000386135:p.Arg1114His		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.R1139H	ENST00000408954.3	37	c.3416	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558774	0.45590	0.0	1.16E-4	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.68181	-0.29;-0.29;-0.31;-0.29;-0.3	5.83	4.93	0.64822	.	0.000000	0.51477	D	0.000092	T	0.54870	0.1885	L	0.31294	0.92	0.53005	D	0.99996	B;B;B	0.21688	0.004;0.059;0.004	B;B;B	0.15052	0.003;0.012;0.003	T	0.49854	-0.8895	10	0.32370	T	0.25	.	15.0878	0.72167	0.0679:0.0:0.9321:0.0	.	1048;1114;1114	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	H	1114;1114;1139;1114;1048	ENSP00000350785:R1114H;ENSP00000417076:R1114H;ENSP00000418885:R1139H;ENSP00000386135:R1114H;ENSP00000419026:R1048H	ENSP00000350785:R1114H	R	+	2	0	DAPK1	89511147	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.743000	0.85020	1.474000	0.48178	0.561000	0.74099	CGC	DAPK1	-	NULL	ENSG00000196730		0.617	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	-	0.00	34	0	G	NM_004938		90321327	+1	tier1	-	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	A
DAZAP2	9802	genome.wustl.edu	37	12	51634238	51634238	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:51634238A>G	ENST00000412716.3	+	2	741	c.125A>G	c.(124-126)tAc>tGc	p.Y42C	DAZAP2_ENST00000604900.1_Missense_Mutation_p.Y42C|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000425012.2_Missense_Mutation_p.Y42C|DAZAP2_ENST00000549732.2_Missense_Mutation_p.Y42C|DAZAP2_ENST00000439799.2_Missense_Mutation_p.Y42C|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000449723.3_Missense_Mutation_p.Y42C|DAZAP2_ENST00000549555.1_Missense_Mutation_p.Y42C			Q15038	DAZP2_HUMAN	DAZ associated protein 2	42	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CCACCTGCCTACTCAGAGGTG	0.493																																																	0													101.0	94.0	96.0					12																	51634238		2203	4300	6503	SO:0001583	missense	0			D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.125A>G	12.37:g.51634238A>G	ENSP00000394699:p.Tyr42Cys		A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	pfam_DAZ_assoc-2	p.Y42C	ENST00000412716.3	37	c.125	CCDS8809.1	12	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919250	0.73098	.	.	ENSG00000183283	ENST00000412716;ENST00000549555;ENST00000439799;ENST00000425012;ENST00000549732;ENST00000449723	T;T;T;T;T;T	0.50548	0.82;0.82;1.0;0.82;0.74;0.76	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;0.999	D;D;D;D;D	0.87578	0.998;0.98;0.997;0.98;0.97	T	0.66452	-0.5920	10	0.72032	D	0.01	-5.4365	14.0896	0.64980	1.0:0.0:0.0:0.0	.	42;42;42;42;42	B4DDT5;C9JP84;F8VU62;C9JA96;Q15038	.;.;.;.;DAZP2_HUMAN	C	42	ENSP00000394699:Y42C;ENSP00000448051:Y42C;ENSP00000398804:Y42C;ENSP00000408251:Y42C;ENSP00000446554:Y42C;ENSP00000412812:Y42C	ENSP00000394699:Y42C	Y	+	2	0	DAZAP2	49920505	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.389000	0.79806	2.231000	0.72958	0.459000	0.35465	TAC	DAZAP2	-	pfam_DAZ_assoc-2	ENSG00000183283		0.493	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP2	HGNC	protein_coding	OTTHUMT00000405259.2	-	0.00	58	0	A	NM_014764		51634238	+1	tier1	-	no_errors	ENST00000549555	ensembl	human	known	74_37	missense	16.67	54	11	SNP	1.000	G
SLC25A32	81034	genome.wustl.edu	37	8	104427646	104427646	+	5'Flank	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:104427646C>A	ENST00000297578.4	-	0	0				SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000297579.5_Nonsense_Mutation_p.S143*|DCAF13_ENST00000521971.1_De_novo_Start_OutOfFrame|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000519682.1_De_novo_Start_OutOfFrame|DCAF13_ENST00000521716.1_De_novo_Start_OutOfFrame	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GCGGACACCTCGTGGAGTCCG	0.602																																																	0													33.0	38.0	36.0					8																	104427646		2203	4299	6502	SO:0001631	upstream_gene_variant	0			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427646C>A	Exception_encountered		Q96JZ6|Q96SU7	Nonsense_Mutation	SNP	pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S143*	ENST00000297578.4	37	c.428	CCDS6300.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.825872	0.96996	.	.	ENSG00000164934	ENST00000297579	.	.	.	3.99	-0.946	0.10385	.	.	.	.	.	.	.	.	.	.	.	0.21652	N	0.999607	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.9663	5.7976	0.18396	0.0:0.5486:0.1306:0.3208	.	.	.	.	X	143	.	ENSP00000297579:S143X	S	+	2	0	DCAF13	104496822	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.071000	0.14594	-0.206000	0.10203	-0.302000	0.09304	TCG	DCAF13	-	NULL	ENSG00000164934		0.602	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF13	HGNC	protein_coding	OTTHUMT00000380290.2	-	0.00	27	0	C	NM_030780		104427646	+1	tier1	-	no_errors	ENST00000297579	ensembl	human	known	74_37	nonsense	28.57	20	8	SNP	0.002	A
DCAF15	90379	genome.wustl.edu	37	19	14070191	14070191	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14070191delC	ENST00000254337.6	+	7	1140	c.1119delC	c.(1117-1119)agcfs	p.S373fs		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	373					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CCCGGGACAGCCCCCCTGCCT	0.682																																																	0													18.0	25.0	22.0					19																	14070191		2182	4274	6456	SO:0001589	frameshift_variant	0			BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1119delC	19.37:g.14070191delC	ENSP00000254337:p.Ser373fs		B3KS86|Q96DW0|Q9BU31	Frame_Shift_Del	DEL	NULL	p.P375fs	ENST00000254337.6	37	c.1119	CCDS32926.1	19																																																																																			DCAF15	-	NULL	ENSG00000132017		0.682	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF15	HGNC	protein_coding	OTTHUMT00000458099.1		0.00	50	0	C	NM_138353		14070191	+1	tier1		no_errors	ENST00000254337	ensembl	human	known	74_37	frame_shift_del	10.87	41	5	DEL	0.970	-
DCAF8	50717	genome.wustl.edu	37	1	160209942	160209942	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:160209942T>C	ENST00000368073.3	-	4	702	c.268A>G	c.(268-270)Aat>Gat	p.N90D	DCAF8_ENST00000368074.1_Missense_Mutation_p.N90D|DCAF8_ENST00000610139.1_Missense_Mutation_p.N90D|DCAF8_ENST00000326837.2_Missense_Mutation_p.N90D|DCAF8_ENST00000556710.1_Missense_Mutation_p.N244D|DCAF8_ENST00000608310.1_Missense_Mutation_p.N244D|DCAF8_ENST00000475733.1_Missense_Mutation_p.N90D			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	90					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TTTTCATCATTAATGGAGTAA	0.547																																																	0													91.0	69.0	76.0					1																	160209942		2203	4300	6503	SO:0001583	missense	0			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.268A>G	1.37:g.160209942T>C	ENSP00000357052:p.Asn90Asp		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N244D	ENST00000368073.3	37	c.730	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381924	0.42207	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710;ENST00000485079	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.11;-0.11	5.03	5.03	0.67393	.	0.091318	0.41097	U	0.000943	T	0.41373	0.1156	L	0.43152	1.355	0.32237	N	0.573239	P;B;B	0.36874	0.572;0.016;0.003	B;B;B	0.36464	0.225;0.011;0.002	T	0.39165	-0.9627	10	0.18276	T	0.48	-12.1936	13.7732	0.63038	0.0:0.0:0.0:1.0	.	244;90;90	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	D	90;90;90;244;71;90;90;90;244;302	ENSP00000357052:N90D;ENSP00000318227:N90D;ENSP00000357053:N90D;ENSP00000451989:N244D;ENSP00000451235:N244D	ENSP00000318227:N90D	N	-	1	0	RP11-574F21.3;DCAF8	158476566	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.318000	0.51975	1.889000	0.54706	0.528000	0.53228	AAT	DCAF8	-	NULL	ENSG00000132716		0.547	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2	-	0.00	40	0	T	NM_015726		160209942	-1	tier1	-	no_errors	ENST00000608310	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	C
DCAF6	55827	genome.wustl.edu	37	1	168034884	168034884	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:168034884C>T	ENST00000312263.6	+	16	2427	c.2223C>T	c.(2221-2223)ggC>ggT	p.G741G	DCAF6_ENST00000432587.2_Silent_p.G801G|DCAF6_ENST00000367843.3_Silent_p.G761G|DCAF6_ENST00000367840.3_Silent_p.G832G	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	741					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTGACTGTGGCCACATTTTCA	0.393																																																	0													70.0	68.0	69.0					1																	168034884		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2223C>T	1.37:g.168034884C>T			A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.G832	ENST00000312263.6	37	c.2496	CCDS30933.1	1																																																																																			DCAF6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000143164		0.393	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	-	0.00	60	0	C	NM_018442		168034884	+1	tier1	-	no_errors	ENST00000367840	ensembl	human	known	74_37	silent	31.58	39	18	SNP	1.000	T
DCHS1	8642	genome.wustl.edu	37	11	6645455	6645456	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6645455_6645456insA	ENST00000299441.3	-	21	7862_7863	c.7451_7452insT	c.(7450-7452)ttgfs	p.L2484fs	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2484	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAGTGTGACAATGTGAAGCT	0.644																																																	0																																										SO:0001589	frameshift_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7452dupT	11.37:g.6645457_6645457dupA	ENSP00000299441:p.Leu2484fs		O15098	Frame_Shift_Ins	INS	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L2484fs	ENST00000299441.3	37	c.7452_7451	CCDS7771.1	11																																																																																			DCHS1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000166341		0.644	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0.00	42	0	-	NM_003737		6645456	-1	tier1		no_errors	ENST00000299441	ensembl	human	known	74_37	frame_shift_ins	17.95	32	7	INS	1.000:0.995	A
DCHS1	8642	genome.wustl.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-	rs188153920	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6662142delG	ENST00000299441.3	-	2	1114	c.703delC	c.(703-705)cggfs	p.R236fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587																																																	0													100.0	101.0	101.0					11																	6662142		2201	4296	6497	SO:0001589	frameshift_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.703delC	11.37:g.6662142delG	ENSP00000299441:p.Arg236fs		O15098	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R235fs	ENST00000299441.3	37	c.703	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0.00	37	0	G	NM_003737		6662142	-1	tier1		no_errors	ENST00000299441	ensembl	human	known	74_37	frame_shift_del	20.45	35	9	DEL	0.606	-
DCHS2	54798	genome.wustl.edu	37	4	155160425	155160425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:155160425delC	ENST00000357232.4	-	24	6023	c.6024delG	c.(6022-6024)gggfs	p.G2008fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2008	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCACTGAATACCCCACAGGTA	0.408																																																	0													64.0	62.0	63.0					4																	155160425		2203	4300	6503	SO:0001589	frameshift_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6024delG	4.37:g.155160425delC	ENSP00000349768:p.Gly2008fs		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y2009fs	ENST00000357232.4	37	c.6024	CCDS3785.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197410		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2		0.00	47	0	C	NM_001142552		155160425	-1	tier1		no_errors	ENST00000357232	ensembl	human	known	74_37	frame_shift_del	20.93	34	9	DEL	0.093	-
DCHS2	54798	genome.wustl.edu	37	4	155412142	155412142	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:155412142G>A	ENST00000339452.1	-	1	726	c.366C>T	c.(364-366)acC>acT	p.T122T	DCHS2_ENST00000456341.2_Silent_p.T115T|DCHS2_ENST00000443500.1_Silent_p.T122T	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1323	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGATGATGCCGGTGTCCGGGT	0.701																																																	0													14.0	20.0	18.0					4																	155412142		691	1590	2281	SO:0001819	synonymous_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.366C>T	4.37:g.155412142G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T122	ENST00000339452.1	37	c.366	CCDS47150.1	4																																																																																			DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000197410		0.701	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	-	0.00	34	0	G	NM_001142552		155412142	-1	tier1	-	no_errors	ENST00000339452	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.903	A
DCLK1	9201	genome.wustl.edu	37	13	36445420	36445421	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:36445420_36445421insT	ENST00000360631.3	-	5	1091_1092	c.880_881insA	c.(880-882)agcfs	p.S294fs	DCLK1_ENST00000379892.4_Frame_Shift_Ins_p.S294fs|DCLK1_ENST00000255448.4_Frame_Shift_Ins_p.S294fs			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	294	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTGGTGGTGCTCCTGCGGGAT	0.505																																																	0																																										SO:0001589	frameshift_variant	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.881dupA	13.37:g.36445421_36445421dupT	ENSP00000353846:p.Ser294fs		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.S294fs	ENST00000360631.3	37	c.881_880		13																																																																																			DCLK1	-	NULL	ENSG00000133083		0.505	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1		0.00	46	0	-	NM_004734		36445421	-1	tier1		no_errors	ENST00000360631	ensembl	human	known	74_37	frame_shift_ins	15.38	33	6	INS	1.000:1.000	T
DCLK1	9201	genome.wustl.edu	37	13	36699950	36699950	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:36699950A>G	ENST00000360631.3	-	2	536	c.325T>C	c.(325-327)Tac>Cac	p.Y109H	DCLK1_ENST00000379892.4_Missense_Mutation_p.Y109H|DCLK1_ENST00000255448.4_Missense_Mutation_p.Y109H			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	109	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCAATGGTGTAGATTGTTCTC	0.542																																																	0													90.0	87.0	88.0					13																	36699950		2203	4300	6503	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.325T>C	13.37:g.36699950A>G	ENSP00000353846:p.Tyr109His		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.Y109H	ENST00000360631.3	37	c.325		13	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525843	0.85600	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.94723	-3.5;-3.5;-3.5	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.89163	3.01	0.80722	D	1	B	0.26602	0.154	B	0.41917	0.37	D	0.96052	0.9032	10	0.87932	D	0	.	15.9941	0.80228	1.0:0.0:0.0:0.0	.	109	O15075-2	.	H	109	ENSP00000255448:Y109H;ENSP00000353846:Y109H;ENSP00000369222:Y109H	ENSP00000255448:Y109H	Y	-	1	0	DCLK1	35597950	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.127000	0.94417	2.179000	0.69175	0.533000	0.62120	TAC	DCLK1	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000133083		0.542	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	-	0.00	67	0	A	NM_004734		36699950	-1	tier1	-	no_errors	ENST00000360631	ensembl	human	known	74_37	missense	34.15	27	14	SNP	1.000	G
DCLK2	166614	genome.wustl.edu	37	4	151023683	151023683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:151023683delA	ENST00000296550.7	+	2	1229	c.475delA	c.(475-477)aaafs	p.K159fs	DCLK2_ENST00000302176.8_Frame_Shift_Del_p.K159fs|DCLK2_ENST00000506325.1_Frame_Shift_Del_p.K159fs	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	159					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CGATTACACCAAAAATATTAA	0.388																																					GBM(195;186 2215 13375 16801 37459)												0													62.0	65.0	64.0					4																	151023683		2203	4300	6503	SO:0001589	frameshift_variant	0			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.475delA	4.37:g.151023683delA	ENSP00000296550:p.Lys159fs		C9J5Q9|Q59GC8|Q8N399	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.N160fs	ENST00000296550.7	37	c.475	CCDS34076.1	4																																																																																			DCLK2	-	NULL	ENSG00000170390		0.388	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1		0.00	62	0	A	NM_001040260		151023683	+1	tier1		no_errors	ENST00000302176	ensembl	human	known	74_37	frame_shift_del	20.00	36	9	DEL	1.000	-
DCLRE1A	9937	genome.wustl.edu	37	10	115609832	115609832	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:115609832delA	ENST00000361384.2	-	2	1949	c.1032delT	c.(1030-1032)tttfs	p.F344fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.F344fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	344					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTCGTTTTTTAAAAAAACCAC	0.408								Other identified genes with known or suspected DNA repair function																																									0													106.0	107.0	107.0					10																	115609832		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1032delT	10.37:g.115609832delA	ENSP00000355185:p.Phe344fs		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Frame_Shift_Del	DEL	pfam_DRMBL	p.F344fs	ENST00000361384.2	37	c.1032	CCDS7584.1	10																																																																																			DCLRE1A	-	NULL	ENSG00000198924		0.408	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1		0.00	42	0	A	NM_014881		115609832	-1	tier1		no_errors	ENST00000361384	ensembl	human	known	74_37	frame_shift_del	26.32	42	15	DEL	0.000	-
DCP1B	196513	genome.wustl.edu	37	12	2061979	2061979	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:2061979G>T	ENST00000280665.6	-	7	1206	c.1127C>A	c.(1126-1128)cCt>cAt	p.P376H	DCP1B_ENST00000540622.1_Missense_Mutation_p.P250H|DCP1B_ENST00000397173.4_Missense_Mutation_p.P274H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	376					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGAGCTGGCAGGTGCTGGTGT	0.552																																																	0													70.0	76.0	74.0					12																	2061979		2203	4300	6503	SO:0001583	missense	0			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1127C>A	12.37:g.2061979G>T	ENSP00000280665:p.Pro376His		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	pfam_DCP1	p.P376H	ENST00000280665.6	37	c.1127	CCDS31727.1	12	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584586	0.46110	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.23950	1.92;1.88;1.91	4.25	2.41	0.29592	.	0.965375	0.08585	N	0.923986	T	0.41050	0.1142	L	0.50333	1.59	0.09310	N	1	D;D	0.71674	0.998;0.997	D;P	0.62955	0.909;0.781	T	0.19943	-1.0290	10	0.59425	D	0.04	-4.0956	8.8398	0.35135	0.1822:0.0:0.8178:0.0	.	274;376	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	376;274;250	ENSP00000280665:P376H;ENSP00000380358:P274H;ENSP00000444374:P250H	ENSP00000280665:P376H	P	-	2	0	DCP1B	1932240	0.987000	0.35691	0.002000	0.10522	0.031000	0.12232	6.307000	0.72815	0.436000	0.26393	0.467000	0.42956	CCT	DCP1B	-	NULL	ENSG00000151065		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP1B	HGNC	protein_coding	OTTHUMT00000398244.1	-	0.00	52	0	G	NM_152640		2061979	-1	tier1	-	no_errors	ENST00000280665	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.011	T
DDAH1	23576	genome.wustl.edu	37	1	85787101	85787101	+	3'UTR	SNP	C	C	T	rs370768522		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:85787101C>T	ENST00000284031.8	-	0	986				RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000535924.2_3'UTR|DDAH1_ENST00000539042.1_3'UTR|DDAH1_ENST00000426972.3_3'UTR|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000542148.1_3'UTR	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1						arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CTTGCCTGTGCGGTCTTGCCG	0.493																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	49.0	51.0	50.0		,	5.6	0.1	1		50	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,utr-3	DDAH1	NM_001134445.1,NM_012137.3	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	,	85787101	2,13004	2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.*34G>A	1.37:g.85787101C>T			Q5HYC8|Q86XK5	RNA	SNP	-	NULL	ENST00000284031.8	37	NULL	CCDS705.1	1																																																																																			DDAH1	-	-	ENSG00000153904		0.493	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	HGNC	protein_coding	OTTHUMT00000029189.1	-	0.00	87	0	C			85787101	-1	tier1	-	no_errors	ENST00000483110	ensembl	human	known	74_37	rna	7.81	59	5	SNP	0.651	T
DDB1	1642	genome.wustl.edu	37	11	61071386	61071386	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:61071386C>T	ENST00000301764.7	-	22	3180	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	DDB1_ENST00000538470.1_5'Flank|DDB1_ENST00000451943.2_5'Flank|DDB1_ENST00000450997.2_Missense_Mutation_p.R239H	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	928	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCACTGAGCGCATAAGGTC	0.567								Nucleotide excision repair (NER)																																									0													167.0	158.0	161.0					11																	61071386		2203	4299	6502	SO:0001583	missense	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2783G>A	11.37:g.61071386C>T	ENSP00000301764:p.Arg928His		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R928H	ENST00000301764.7	37	c.2783	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.666582	0.96745	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000539332	T;T;T	0.44083	0.93;1.51;1.25	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71409	0.3336	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.974;0.998	T	0.72023	-0.4415	10	0.46703	T	0.11	-20.7602	20.3207	0.98668	0.0:1.0:0.0:0.0	.	239;928	B4DG00;Q16531	.;DDB1_HUMAN	H	928;239;94	ENSP00000301764:R928H;ENSP00000388705:R239H;ENSP00000439787:R94H	ENSP00000301764:R928H	R	-	2	0	DDB1	60827962	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.813000	0.96785	0.561000	0.74099	CGC	DDB1	-	pfam_Cleavage/polyA-sp_fac_asu_C	ENSG00000167986		0.567	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	-	0.00	66	0	C	NM_001923		61071386	-1	tier1	-	no_errors	ENST00000301764	ensembl	human	known	74_37	missense	14.67	64	11	SNP	1.000	T
DDHD1	80821	genome.wustl.edu	37	14	53527857	53527857	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:53527857G>A	ENST00000323669.5	-	8	1828	c.1829C>T	c.(1828-1830)gCc>gTc	p.A610V	DDHD1_ENST00000357758.3_Missense_Mutation_p.A610V|DDHD1_ENST00000395606.1_Missense_Mutation_p.A617V	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	610					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AAATTTTAAGGCAGGTGTTTG	0.348																																																	0													152.0	139.0	143.0					14																	53527857		2203	4300	6503	SO:0001583	missense	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1829C>T	14.37:g.53527857G>A	ENSP00000327104:p.Ala610Val		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.A610V	ENST00000323669.5	37	c.1829	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499635	0.64298	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	6.07	6.07	0.98685	.	0.090808	0.85682	D	0.000000	T	0.44623	0.1302	L	0.33485	1.01	0.39743	D	0.971779	B;B;B;B	0.25351	0.001;0.098;0.124;0.098	B;B;B;B	0.25291	0.002;0.049;0.059;0.033	T	0.35475	-0.9787	9	0.12430	T	0.62	-15.9212	12.8046	0.57605	0.0814:0.0:0.9186:0.0	.	6;617;610;610	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	V	610;617;610;481	.	ENSP00000327104:A610V	A	-	2	0	DDHD1	52597607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.064000	0.71169	2.885000	0.99019	0.655000	0.94253	GCC	DDHD1	-	NULL	ENSG00000100523		0.348	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	-	0.00	42	0	G			53527857	-1	tier1	-	no_errors	ENST00000323669	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	A
DDHD2	23259	genome.wustl.edu	37	8	38103301	38103301	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:38103301G>T	ENST00000397166.2	+	8	1415	c.890G>T	c.(889-891)aGg>aTg	p.R297M	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.R297M|DDHD2_ENST00000517385.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	297					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AACCGCCTCAGGCACTTCACC	0.413																																																	0													150.0	152.0	151.0					8																	38103301		2203	4300	6503	SO:0001583	missense	0			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.890G>T	8.37:g.38103301G>T	ENSP00000380352:p.Arg297Met		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom	p.R297M	ENST00000397166.2	37	c.890	CCDS34883.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684037|4.684037	0.88639|0.88639	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000532106|ENST00000397166;ENST00000520272;ENST00000440212	.|T;T	.|0.57907	.|0.37;0.37	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78991|0.78991	0.4371|0.4371	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.986	T|T	0.82782|0.82782	-0.0287|-0.0287	5|10	.|0.87932	.|D	.|0	-19.4023|-19.4023	18.8574|18.8574	0.92259|0.92259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|109;297	.|B4DSR3;O94830	.|.;DDHD2_HUMAN	C|M	90|297;297;109	.|ENSP00000380352:R297M;ENSP00000429932:R297M	.|ENSP00000380352:R297M	G|R	+|+	1|2	0|0	DDHD2|DDHD2	38222458|38222458	1.000000|1.000000	0.71417|0.71417	0.691000|0.691000	0.30163|0.30163	0.997000|0.997000	0.91878|0.91878	9.803000|9.803000	0.99136|0.99136	2.773000|2.773000	0.95371|0.95371	0.585000|0.585000	0.79938|0.79938	GGC|AGG	DDHD2	-	NULL	ENSG00000085788		0.413	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDHD2	HGNC	protein_coding	OTTHUMT00000377251.2	-	0.00	63	0	G	XM_291291		38103301	+1	tier1	-	no_errors	ENST00000397166	ensembl	human	known	74_37	missense	13.70	63	10	SNP	0.825	T
DDN	23109	genome.wustl.edu	37	12	49391444	49391444	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:49391444C>A	ENST00000421952.2	-	2	1236	c.1215G>T	c.(1213-1215)tgG>tgT	p.W405C	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	405	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTCCGGGAGCCCAGGGTCTGG	0.627																																																	0													31.0	35.0	34.0					12																	49391444		2203	4300	6503	SO:0001583	missense	0			AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1215G>T	12.37:g.49391444C>A	ENSP00000390590:p.Trp405Cys			Missense_Mutation	SNP	NULL	p.W405C	ENST00000421952.2	37	c.1215	CCDS31791.2	12	.	.	.	.	.	.	.	.	.	.	c	10.55	1.380454	0.24944	.	.	ENSG00000181418	ENST00000421952	T	0.61859	0.07	3.84	2.94	0.34122	.	0.184573	0.27027	N	0.021289	T	0.42921	0.1224	L	0.27053	0.805	0.58432	D	0.999999	B	0.27498	0.18	B	0.26310	0.068	T	0.45920	-0.9228	10	0.72032	D	0.01	-13.1658	10.7587	0.46251	0.191:0.809:0.0:0.0	.	405	O94850	DEND_HUMAN	C	405	ENSP00000390590:W405C	ENSP00000390590:W405C	W	-	3	0	DDN	47677711	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	1.814000	0.38972	1.193000	0.43086	-0.318000	0.08688	TGG	DDN	-	NULL	ENSG00000181418		0.627	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDN	HGNC	protein_coding	OTTHUMT00000343335.1	-	0.00	265	0	C			49391444	-1	tier1	-	no_errors	ENST00000421952	ensembl	human	known	74_37	missense	14.88	183	32	SNP	1.000	A
DDN	23109	genome.wustl.edu	37	12	49391699	49391699	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:49391699C>A	ENST00000421952.2	-	2	981	c.960G>T	c.(958-960)ctG>ctT	p.L320L	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	320						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CAGCAGCAGCCAGCCCCAGGC	0.657																																																	0													49.0	58.0	55.0					12																	49391699		2200	4292	6492	SO:0001819	synonymous_variant	0			AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.960G>T	12.37:g.49391699C>A				Silent	SNP	NULL	p.L320	ENST00000421952.2	37	c.960	CCDS31791.2	12																																																																																			DDN	-	NULL	ENSG00000181418		0.657	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDN	HGNC	protein_coding	OTTHUMT00000343335.1	-	0.00	69	0	C			49391699	-1	tier1	-	no_errors	ENST00000421952	ensembl	human	known	74_37	silent	15.25	50	9	SNP	0.004	A
DDX26B	203522	genome.wustl.edu	37	X	134680317	134680317	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:134680317delT	ENST00000370752.4	+	4	686	c.352delT	c.(352-354)tttfs	p.F119fs	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	119	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAATCCATTTTTTTTAGA	0.274																																																	0													39.0	38.0	39.0					X																	134680317		2198	4288	6486	SO:0001589	frameshift_variant	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.352delT	X.37:g.134680317delT	ENSP00000359788:p.Phe119fs		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Frame_Shift_Del	DEL	pfscan_VWF_A	p.L120fs	ENST00000370752.4	37	c.352	CCDS35401.1	X																																																																																			DDX26B	-	pfscan_VWF_A	ENSG00000165359		0.274	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1		0.00	153	0	T	NM_182540		134680317	+1	tier1		no_errors	ENST00000370752	ensembl	human	known	74_37	frame_shift_del	14.29	114	19	DEL	1.000	-
DDX27	55661	genome.wustl.edu	37	20	47858504	47858504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:47858504delA	ENST00000371764.4	+	17	2074	c.2065delA	c.(2065-2067)aaafs	p.K691fs	ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K691fs*4(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGGATGCCAAAAAAAAGGG	0.488																																																	3	Deletion - Frameshift(3)	large_intestine(2)|ovary(1)											67.0	72.0	70.0					20																	47858504		2203	4300	6503	SO:0001589	frameshift_variant	0			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2065delA	20.37:g.47858504delA	ENSP00000360828:p.Lys691fs		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.K691fs	ENST00000371764.4	37	c.2065	CCDS13416.1	20																																																																																			DDX27	-	NULL	ENSG00000124228		0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1		0.00	70	0	A			47858504	+1	tier1		no_errors	ENST00000371764	ensembl	human	known	74_37	frame_shift_del	32.08	36	17	DEL	1.000	-
DDX3X	1654	genome.wustl.edu	37	X	41202035	41202035	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:41202035C>T	ENST00000399959.2	+	6	1344	c.489C>T	c.(487-489)taC>taT	p.Y163Y	DDX3X_ENST00000542215.1_Silent_p.Y207Y|DDX3X_ENST00000457138.2_Silent_p.Y147Y|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	163	Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTGAGAAATACGATGACATTC	0.368										HNSCC(61;0.18)																																							0													118.0	102.0	107.0					X																	41202035		1974	4169	6143	SO:0001819	synonymous_variant	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.489C>T	X.37:g.41202035C>T			A8K538|B4E3E8|O15536	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y163	ENST00000399959.2	37	c.489	CCDS43931.1	X																																																																																			DDX3X	-	NULL	ENSG00000215301		0.368	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	-	0.00	74	0	C	NM_024005		41202035	+1	tier1	-	no_errors	ENST00000399959	ensembl	human	known	74_37	silent	26.92	38	14	SNP	0.993	T
DDX43	55510	genome.wustl.edu	37	6	74111695	74111696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:74111695_74111696insA	ENST00000370336.4	+	4	708_709	c.550_551insA	c.(550-552)caafs	p.Q184fs	DDX43_ENST00000539829.1_Frame_Shift_Ins_p.Q184fs	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	184					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTTGAAATGGCAAAAAACAAAG	0.371																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.556dupA	6.37:g.74111701_74111701dupA	ENSP00000359361:p.Gln184fs		B4E0C8|Q6NXR1	Frame_Shift_Ins	INS	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T186fs	ENST00000370336.4	37	c.550_551	CCDS4977.1	6																																																																																			DDX43	-	NULL	ENSG00000080007		0.371	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX43	HGNC	protein_coding	OTTHUMT00000041219.3		0.00	47	0	-	NM_018665		74111696	+1	tier1		no_errors	ENST00000370336	ensembl	human	known	74_37	frame_shift_ins	33.96	35	18	INS	0.036:0.001	A
DDX60	55601	genome.wustl.edu	37	4	169167687	169167687	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:169167687T>C	ENST00000393743.3	-	30	4337	c.4046A>G	c.(4045-4047)aAa>aGa	p.K1349R		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1349	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTTTATGAGTTTTCCTATTTT	0.458																																																	0													89.0	90.0	90.0					4																	169167687		2203	4300	6503	SO:0001583	missense	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4046A>G	4.37:g.169167687T>C	ENSP00000377344:p.Lys1349Arg		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1349R	ENST00000393743.3	37	c.4046	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.827830	0.00584	.	.	ENSG00000137628	ENST00000393743	T	0.14766	2.48	5.83	3.38	0.38709	Helicase, C-terminal (1);	0.199289	0.35407	N	0.003225	T	0.05090	0.0136	N	0.05012	-0.13	0.09310	N	0.999999	B	0.15719	0.014	B	0.10450	0.005	T	0.42207	-0.9465	10	0.02654	T	1	.	8.8345	0.35104	0.0:0.2724:0.0:0.7276	.	1349	Q8IY21	DDX60_HUMAN	R	1349	ENSP00000377344:K1349R	ENSP00000377344:K1349R	K	-	2	0	DDX60	169404262	0.926000	0.31397	1.000000	0.80357	0.092000	0.18411	0.370000	0.20433	1.041000	0.40125	-0.371000	0.07208	AAA	DDX60	-	pfscan_Helicase_C	ENSG00000137628		0.458	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	-	0.00	58	0	T	NM_017631		169167687	-1	tier1	-	no_errors	ENST00000393743	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.275	C
DEDD	9191	genome.wustl.edu	37	1	161091639	161091639	+	3'UTR	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:161091639A>T	ENST00000368006.3	-	0	1469				DEDD_ENST00000490843.2_3'UTR|DEDD_ENST00000392188.1_3'UTR|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000458050.2_3'UTR|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000545495.1_3'UTR	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing						decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTTACAAAGACTATGTGCTG	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.*298T>A	1.37:g.161091639A>T			D3DVF5|O60737	RNA	SNP	-	NULL	ENST00000368006.3	37	NULL	CCDS1219.1	1																																																																																			DEDD	-	-	ENSG00000158796		0.373	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1	-	0.00	51	0	A	NM_004216		161091639	-1	tier1	-	no_errors	ENST00000489249	ensembl	human	known	74_37	rna	14.81	22	4	SNP	0.173	T
DEF6	50619	genome.wustl.edu	37	6	35287364	35287364	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35287364C>T	ENST00000316637.5	+	8	1284	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	DEF6_ENST00000542066.1_Missense_Mutation_p.R172C	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	427	Glu-rich.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GCAGCGGCAGCGCATCAAGGA	0.637																																																	0													42.0	47.0	45.0					6																	35287364		2203	4297	6500	SO:0001583	missense	0			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1279C>T	6.37:g.35287364C>T	ENSP00000319831:p.Arg427Cys		Q86VF4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R427C	ENST00000316637.5	37	c.1279	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108301	0.77096	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.44482	0.92;2.25	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.65492	-0.6155	10	0.87932	D	0	-21.9501	14.431	0.67251	0.1471:0.8529:0.0:0.0	.	172;427;427	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	C	172;427	ENSP00000442166:R172C;ENSP00000319831:R427C	ENSP00000319831:R427C	R	+	1	0	DEF6	35395342	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.704000	0.68347	2.861000	0.98227	0.655000	0.94253	CGC	DEF6	-	NULL	ENSG00000023892		0.637	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1	-	0.00	75	0	C	NM_022047		35287364	+1	tier1	-	no_errors	ENST00000316637	ensembl	human	known	74_37	missense	17.14	58	12	SNP	1.000	T
DEFB112	245915	genome.wustl.edu	37	6	50016318	50016318	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:50016318T>C	ENST00000322246.4	-	1	46	c.47A>G	c.(46-48)tAc>tGc	p.Y16C		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	16					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TGTCTTTGAGTACATTTTTTC	0.328																																																	0													126.0	124.0	124.0					6																	50016318		2203	4298	6501	SO:0001583	missense	0			DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.47A>G	6.37:g.50016318T>C	ENSP00000319126:p.Tyr16Cys		Q8NET0	Missense_Mutation	SNP	NULL	p.Y16C	ENST00000322246.4	37	c.47	CCDS34476.1	6	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991871	0.35131	.	.	ENSG00000180872	ENST00000322246	.	.	.	3.53	-5.06	0.02946	.	1.332110	0.05738	N	0.600908	T	0.14227	0.0344	N	0.24115	0.695	0.09310	N	1	D	0.63880	0.993	P	0.49752	0.621	T	0.19778	-1.0295	9	0.87932	D	0	.	8.1879	0.31350	0.1453:0.0:0.5943:0.2603	.	16	Q30KQ8	DB112_HUMAN	C	16	.	ENSP00000319126:Y16C	Y	-	2	0	DEFB112	50124277	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.282000	0.02799	-0.887000	0.03961	-0.313000	0.08912	TAC	DEFB112	-	NULL	ENSG00000180872		0.328	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB112	HGNC	protein_coding	OTTHUMT00000359672.1	-	0.00	86	0	T	NM_001037498		50016318	-1	tier1	-	no_errors	ENST00000322246	ensembl	human	known	74_37	missense	10.11	80	9	SNP	0.000	C
DENND1C	79958	genome.wustl.edu	37	19	6477251	6477251	+	Frame_Shift_Del	DEL	G	G	-	rs553532837	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6477251delG	ENST00000381480.2	-	8	603	c.491delC	c.(490-492)cctfs	p.P164fs	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	164	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCCCGGGTAGGGGGGGGGAT	0.672													GGGGGtGGG|GGGGGGGGG|GGGGGGGG|complex_deletion	5	0.000998403	0.0008	0.0	5008	,	,		12739	0.003		0.001	False		,,,				2504	0.0																0													20.0	25.0	24.0					19																	6477251		1952	4130	6082	SO:0001589	frameshift_variant	0			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.491delC	19.37:g.6477251delG	ENSP00000370889:p.Pro164fs		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Frame_Shift_Del	DEL	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P164fs	ENST00000381480.2	37	c.491	CCDS45938.1	19																																																																																			DENND1C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000205744		0.672	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1C	HGNC	protein_coding	OTTHUMT00000453332.2		0.00	96	0	G	NM_024898		6477251	-1	tier1		no_errors	ENST00000381480	ensembl	human	known	74_37	frame_shift_del	16.33	82	16	DEL	0.983	-
DENND4A	10260	genome.wustl.edu	37	15	66044893	66044893	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:66044893C>T	ENST00000431932.2	-	4	593	c.385G>A	c.(385-387)Gca>Aca	p.A129T	DENND4A_ENST00000443035.3_Missense_Mutation_p.A129T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	129	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTAATATTTGCGGGGCGCCCA	0.358																																																	0													58.0	53.0	54.0					15																	66044893		1820	4069	5889	SO:0001583	missense	0			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.385G>A	15.37:g.66044893C>T	ENSP00000396830:p.Ala129Thr		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.A129T	ENST00000431932.2	37	c.385	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635091	0.67130	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.26810	1.71;1.71	5.1	4.19	0.49359	MABP domain (1);	0.054418	0.64402	N	0.000001	T	0.52484	0.1737	M	0.80183	2.485	0.80722	D	1	P;D;D	0.89917	0.945;1.0;1.0	P;D;D	0.87578	0.621;0.998;0.997	T	0.59616	-0.7421	10	0.87932	D	0	.	13.7123	0.62675	0.0:0.9252:0.0:0.0748	.	129;129;129	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	T	129	ENSP00000391167:A129T;ENSP00000396830:A129T	ENSP00000396830:A129T	A	-	1	0	DENND4A	63831947	1.000000	0.71417	0.998000	0.56505	0.176000	0.22953	7.747000	0.85070	1.268000	0.44264	0.563000	0.77884	GCA	DENND4A	-	pfscan_uDENN_dom	ENSG00000174485		0.358	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	-	0.00	63	0	C	NM_005848		66044893	-1	tier1	-	no_errors	ENST00000443035	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	T
DEPDC1	55635	genome.wustl.edu	37	1	68947781	68947781	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:68947781T>G	ENST00000456315.2	-	8	1824	c.1710A>C	c.(1708-1710)gaA>gaC	p.E570D	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	570					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTTCTGAAAGTTCTATTGTAC	0.388																																																	0													129.0	121.0	124.0					1																	68947781		1568	3582	5150	SO:0001583	missense	0			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1710A>C	1.37:g.68947781T>G	ENSP00000412292:p.Glu570Asp		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.E570D	ENST00000456315.2	37	c.1710	CCDS44159.1	1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.414935	0.25465	.	.	ENSG00000024526	ENST00000456315	T	0.10763	2.84	5.72	4.58	0.56647	Rho GTPase activation protein (1);	0.047813	0.85682	D	0.000000	T	0.02193	0.0068	N	0.19112	0.55	0.80722	D	1	P	0.37636	0.603	B	0.28385	0.089	T	0.50734	-0.8793	10	0.29301	T	0.29	.	8.8741	0.35334	0.0:0.0677:0.1259:0.8064	.	570	Q5TB30	DEP1A_HUMAN	D	570	ENSP00000412292:E570D	ENSP00000412292:E570D	E	-	3	2	DEPDC1	68720369	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	0.631000	0.24568	2.182000	0.69389	0.528000	0.53228	GAA	DEPDC1	-	superfamily_Rho_GTPase_activation_prot	ENSG00000024526		0.388	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	HGNC	protein_coding	OTTHUMT00000025514.2	-	0.00	89	0	T	NM_017779		68947781	-1	tier1	-	no_errors	ENST00000456315	ensembl	human	known	74_37	missense	18.67	61	14	SNP	1.000	G
DGCR8	54487	genome.wustl.edu	37	22	20074724	20074724	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:20074724G>T	ENST00000351989.3	+	3	1189	c.760G>T	c.(760-762)Ggc>Tgc	p.G254C	MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.G254C|DGCR8_ENST00000407755.1_Missense_Mutation_p.G254C|MIR1306_ENST00000408439.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	254	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCTGGAAGAAGGCCTTTGTGC	0.542																																																	0													162.0	145.0	151.0					22																	20074724		2203	4300	6503	SO:0001583	missense	0			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.760G>T	22.37:g.20074724G>T	ENSP00000263209:p.Gly254Cys		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom	p.G254C	ENST00000351989.3	37	c.760	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528539	0.85706	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.40476	1.11;1.03;1.03	6.04	5.01	0.66863	.	0.156649	0.64402	D	0.000017	T	0.58075	0.2097	M	0.65498	2.005	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.68483	0.958;0.879	T	0.56926	-0.7898	10	0.51188	T	0.08	-16.3581	10.2037	0.43101	0.0694:0.0:0.797:0.1336	.	254;254	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	C	254	ENSP00000263209:G254C;ENSP00000372488:G254C;ENSP00000384726:G254C	ENSP00000263209:G254C	G	+	1	0	DGCR8	18454724	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.469000	0.80959	2.873000	0.98535	0.561000	0.74099	GGC	DGCR8	-	NULL	ENSG00000128191		0.542	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	-	0.00	35	0	G			20074724	+1	tier1	-	no_errors	ENST00000351989	ensembl	human	known	74_37	missense	13.89	30	5	SNP	1.000	T
DEPDC5	9681	genome.wustl.edu	37	22	32270369	32270369	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:32270369C>T	ENST00000382112.3	+	35	3717	c.3647C>T	c.(3646-3648)gCg>gTg	p.A1216V	DEPDC5_ENST00000400249.2_Missense_Mutation_p.A1194V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A1194V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A1203V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A1225V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.A1125V|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000539165.1_Missense_Mutation_p.A42V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A1147V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A1225V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1225	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGACACAGGCGATGGCCATT	0.567																																																	0													46.0	49.0	48.0					22																	32270369		2052	4188	6240	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3647C>T	22.37:g.32270369C>T	ENSP00000371546:p.Ala1216Val		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.A1203V	ENST00000382112.3	37	c.3608	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108564	0.37242	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	T;T;T;T;T;T;T;T;T	0.31247	1.92;1.92;1.92;1.92;1.5;1.92;1.92;1.92;1.92	4.92	2.84	0.33178	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.232106	0.39985	N	0.001211	T	0.12603	0.0306	N	0.03115	-0.41	0.30770	N	0.743124	B;B;B;B;B;B	0.24043	0.003;0.096;0.005;0.03;0.046;0.066	B;B;B;B;B;B	0.16722	0.004;0.016;0.003;0.004;0.011;0.008	T	0.09122	-1.0689	10	0.38643	T	0.18	.	8.7151	0.34405	0.0:0.787:0.0:0.213	.	1225;1125;611;1203;1216;1194	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	V	1125;1203;1194;1125;1225;1147;1216;1225;1194;42	ENSP00000440210:A1125V;ENSP00000266091:A1203V;ENSP00000383108:A1194V;ENSP00000383105:A1225V;ENSP00000371539:A1147V;ENSP00000371546:A1216V;ENSP00000371545:A1225V;ENSP00000383107:A1194V;ENSP00000446286:A42V	ENSP00000266091:A1203V	A	+	2	0	DEPDC5	30600369	0.602000	0.26916	0.203000	0.23512	0.964000	0.63967	0.970000	0.29383	0.675000	0.31264	0.561000	0.74099	GCG	DEPDC5	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000100150		0.567	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1		0.00	24	0	C	NM_014662		32270369	+1			no_errors	ENST00000266091	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.751	T
DGKG	1608	genome.wustl.edu	37	3	185970893	185970893	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:185970893C>T	ENST00000265022.3	-	18	2128	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	DGKG_ENST00000382164.4_Missense_Mutation_p.R491H|DGKG_ENST00000344484.4_Missense_Mutation_p.R505H|DGKG_ENST00000544847.1_Missense_Mutation_p.R471H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	530	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCTCCCCAGCGGAGACAACG	0.512																																																	0													163.0	125.0	138.0					3																	185970893		2203	4300	6503	SO:0001583	missense	0			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1589G>A	3.37:g.185970893C>T	ENSP00000265022:p.Arg530His		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R530H	ENST00000265022.3	37	c.1589	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918075	0.73098	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.42131	0.99;0.98;0.99;0.99	4.97	4.97	0.65823	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.62016	1.91	0.80722	D	1	P;P;P;P	0.49961	0.873;0.873;0.914;0.93	P;P;P;P	0.54346	0.584;0.584;0.633;0.749	T	0.58137	-0.7689	10	0.59425	D	0.04	.	17.5152	0.87771	0.0:1.0:0.0:0.0	.	471;505;491;530	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	H	530;505;491;471;494	ENSP00000265022:R530H;ENSP00000339777:R505H;ENSP00000371599:R491H;ENSP00000440507:R471H	ENSP00000265022:R530H	R	-	2	0	DGKG	187453587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.774000	0.68906	2.742000	0.94016	0.655000	0.94253	CGC	DGKG	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000058866		0.512	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	-	0.00	54	0	C			185970893	-1	tier1	-	no_errors	ENST00000265022	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T
DGKH	160851	genome.wustl.edu	37	13	42742607	42742607	+	Missense_Mutation	SNP	C	C	T	rs369204515		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:42742607C>T	ENST00000337343.4	+	10	1171	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	DGKH_ENST00000379274.2_Missense_Mutation_p.R248W|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.R384W|DGKH_ENST00000536612.1_Missense_Mutation_p.R248W|DGKH_ENST00000538674.1_Missense_Mutation_p.R139W|DGKH_ENST00000261491.5_Missense_Mutation_p.R384W	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	384	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R384W(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGACAATTTCCGGATTCTTGT	0.318																																																	1	Substitution - Missense(1)	large_intestine(1)						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	92.0	90.0	91.0		1150,742,742,1150,1150	4.7	1.0	13		91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	DGKH	NM_001204504.1,NM_001204505.1,NM_001204506.1,NM_152910.4,NM_178009.3	101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	384/1165,248/1101,248/1085,384/1165,384/1221	42742607	1,13005	2203	4300	6503	SO:0001583	missense	0			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1150C>T	13.37:g.42742607C>T	ENSP00000337572:p.Arg384Trp		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R384W	ENST00000337343.4	37	c.1150	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381986	0.61845	0.0	1.16E-4	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.56	4.72	0.59763	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	H	0.96111	3.77	0.54753	D	0.999986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	T	0.80661	-0.1283	10	0.87932	D	0	.	11.1672	0.48550	0.0:0.8409:0.0:0.1591	.	139;248;384;384	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	W	384;384;384;248;248;139	ENSP00000440823:R384W;ENSP00000337572:R384W;ENSP00000261491:R384W;ENSP00000368576:R248W;ENSP00000445114:R248W;ENSP00000441308:R139W	ENSP00000261491:R384W	R	+	1	2	DGKH	41640607	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	2.610000	0.46325	1.357000	0.45904	-0.251000	0.11542	CGG	DGKH	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000102780		0.318	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2		0.00	55	0	C	NM_178009		42742607	+1			no_errors	ENST00000337343	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
DHFRL1	200895	genome.wustl.edu	37	3	93780332	93780332	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:93780332G>A	ENST00000394221.2	-	2	473	c.24C>T	c.(22-24)atC>atT	p.I8I	DHFRL1_ENST00000481631.1_5'UTR|NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000314636.2_Silent_p.I8I	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	8	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						ACACAGCGACGATGCAGTTTA	0.532																																																	0													65.0	68.0	67.0					3																	93780332		2127	4232	6359	SO:0001819	synonymous_variant	0			AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.24C>T	3.37:g.93780332G>A			D3DN30|Q6P4I9	Silent	SNP	pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR	p.I8	ENST00000394221.2	37	c.24	CCDS2926.1	3																																																																																			DHFRL1	-	pfam_DHFR_dom,superfamily_DHFR-like_dom	ENSG00000178700		0.532	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHFRL1	HGNC	protein_coding	OTTHUMT00000352910.1	-	0.00	89	0	G	NM_176815		93780332	-1	tier1	-	no_errors	ENST00000314636	ensembl	human	known	74_37	silent	16.42	56	11	SNP	1.000	A
DHODH	1723	genome.wustl.edu	37	16	72057170	72057170	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:72057170G>A	ENST00000219240.4	+	7	947	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	DHODH_ENST00000572887.1_Missense_Mutation_p.R309Q|DHODH_ENST00000573922.1_3'UTR	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	309					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	AAGCCCCTCCGGGATTTATCA	0.577																																																	0													52.0	53.0	52.0					16																	72057170		1911	4132	6043	SO:0001583	missense	0				CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.926G>A	16.37:g.72057170G>A	ENSP00000219240:p.Arg309Gln		A8K8C8|Q6P176	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	p.R309Q	ENST00000219240.4	37	c.926	CCDS42192.1	16	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665520	0.67700	.	.	ENSG00000102967	ENST00000219240	D	0.86030	-2.06	5.59	5.59	0.84812	Aldolase-type TIM barrel (1);	0.055529	0.64402	D	0.000001	T	0.77260	0.4104	L	0.48362	1.52	0.58432	D	0.999995	P	0.52170	0.951	B	0.28305	0.088	T	0.77453	-0.2582	10	0.21540	T	0.41	-20.5088	19.96	0.97242	0.0:0.0:1.0:0.0	.	309	Q02127	PYRD_HUMAN	Q	309	ENSP00000219240:R309Q	ENSP00000219240:R309Q	R	+	2	0	DHODH	70614671	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.220000	0.58567	2.793000	0.96121	0.561000	0.74099	CGG	DHODH	-	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	ENSG00000102967		0.577	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHODH	HGNC	protein_coding		-	0.00	42	0	G	NM_001361		72057170	+1	tier1	-	no_errors	ENST00000219240	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A
DHODH	1723	genome.wustl.edu	37	16	72057492	72057492	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:72057492G>A	ENST00000219240.4	+	8	1114	c.1093G>A	c.(1093-1095)Gtt>Att	p.V365I	DHODH_ENST00000572887.1_Missense_Mutation_p.V363I	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	365					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GGGGCCACCCGTTGTGGGCAA	0.597																																																	0													63.0	69.0	67.0					16																	72057492		1957	4149	6106	SO:0001583	missense	0				CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.1093G>A	16.37:g.72057492G>A	ENSP00000219240:p.Val365Ile		A8K8C8|Q6P176	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	p.V365I	ENST00000219240.4	37	c.1093	CCDS42192.1	16	.	.	.	.	.	.	.	.	.	.	G	8.240	0.806644	0.16467	.	.	ENSG00000102967	ENST00000219240	D	0.84589	-1.87	5.38	1.12	0.20585	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.74527	0.3728	N	0.20685	0.6	0.58432	D	0.999996	B	0.24651	0.108	B	0.37989	0.262	T	0.57142	-0.7862	10	0.19590	T	0.45	-10.2392	7.2276	0.26024	0.063:0.2305:0.5868:0.1196	.	365	Q02127	PYRD_HUMAN	I	365	ENSP00000219240:V365I	ENSP00000219240:V365I	V	+	1	0	DHODH	70614993	1.000000	0.71417	0.191000	0.23289	0.024000	0.10985	3.085000	0.50151	0.071000	0.16664	-1.126000	0.01995	GTT	DHODH	-	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	ENSG00000102967		0.597	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHODH	HGNC	protein_coding		-	0.00	49	0	G	NM_001361		72057492	+1	tier1	-	no_errors	ENST00000219240	ensembl	human	known	74_37	missense	30.51	41	18	SNP	0.966	A
DHRS1	115817	genome.wustl.edu	37	14	24766024	24766024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:24766024G>A	ENST00000288111.7	-	3	490	c.214C>T	c.(214-216)Cga>Tga	p.R72*	DHRS1_ENST00000396813.1_Nonsense_Mutation_p.R72*	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	72						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)	p.R72*(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		AACAGGCTTCGCACTTCACTC	0.537											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Nonsense(2)	large_intestine(1)|endometrium(1)											146.0	115.0	126.0					14																	24766024		2203	4300	6503	SO:0001587	stop_gained	0			AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16445	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 19C, member 1"""	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.214C>T	14.37:g.24766024G>A	ENSP00000288111:p.Arg72*	773	D3DS71|Q8NDG3|Q96B59|Q96CQ5	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH	p.R72*	ENST00000288111.7	37	c.214	CCDS9623.1	14	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832004	0.91036	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	.	.	.	4.99	1.8	0.24995	.	0.793753	0.11664	N	0.541483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-20.4236	5.6525	0.17625	0.0947:0.0:0.461:0.4443	.	.	.	.	X	72	.	ENSP00000288111:R72X	R	-	1	2	DHRS1	23835864	0.001000	0.12720	0.004000	0.12327	0.880000	0.50808	0.462000	0.21956	0.148000	0.19059	-0.302000	0.09304	CGA	DHRS1	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000157379		0.537	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS1	HGNC	protein_coding	OTTHUMT00000073168.4	-	0.00	48	0	G	NM_138452		24766024	-1	tier1	-	no_errors	ENST00000288111	ensembl	human	known	74_37	nonsense	29.03	22	9	SNP	0.007	A
DHRS12	79758	genome.wustl.edu	37	13	52348164	52348164	+	Missense_Mutation	SNP	C	C	T	rs145669707		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:52348164C>T	ENST00000444610.2	-	7	530	c.517G>A	c.(517-519)Gtc>Atc	p.V173I	DHRS12_ENST00000280056.2_Missense_Mutation_p.V124I|DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000218981.1_Missense_Mutation_p.V124I	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	173							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CCTGAGGAGACGGTTATCTGC	0.448																																																	0								C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	136.0	116.0	123.0		370,370	1.5	0.0	13	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	DHRS12	NM_001031719.1,NM_024705.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	124/272,124/243	52348164	1,13005	2203	4300	6503	SO:0001583	missense	0			AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.517G>A	13.37:g.52348164C>T	ENSP00000411565:p.Val173Ile		Q96GB2|Q9H8H1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH	p.V173I	ENST00000444610.2	37	c.517	CCDS58292.1	13	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863584	0.51482	0.0	1.16E-4	ENSG00000102796	ENST00000444610;ENST00000218981;ENST00000280056	D;D;D	0.87571	-2.27;-2.27;-2.27	3.28	1.52	0.23074	NAD(P)-binding domain (1);	0.133058	0.49916	N	0.000133	D	0.83431	0.5253	L	0.41492	1.28	0.25280	N	0.989442	P;D;P	0.58970	0.895;0.984;0.788	P;P;P	0.51324	0.566;0.666;0.449	T	0.75013	-0.3467	10	0.62326	D	0.03	.	6.0311	0.19681	0.1868:0.7052:0.0:0.108	.	124;124;173	A0PJE2-3;A0PJE2-2;A0PJE2	.;.;DHR12_HUMAN	I	173;124;124	ENSP00000411565:V173I;ENSP00000218981:V124I;ENSP00000280056:V124I	ENSP00000218981:V124I	V	-	1	0	DHRS12	51246165	0.997000	0.39634	0.021000	0.16686	0.102000	0.19082	3.664000	0.54525	0.397000	0.25310	-0.219000	0.12488	GTC	DHRS12	-	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR	ENSG00000102796		0.448	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS12	HGNC	protein_coding	OTTHUMT00000045036.3	-	0.00	28	0	C	NM_024705		52348164	-1	tier1	rs145669707	no_errors	ENST00000444610	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.996	T
DHRS13	147015	genome.wustl.edu	37	17	27228278	27228278	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:27228278G>A	ENST00000378895.4	-	4	538	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000394901.3_Silent_p.L88L|DHRS13_ENST00000426464.2_Silent_p.L57L|DHRS13_ENST00000581974.1_5'Flank	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	138						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			ACCCGAAGCAGCAGGTTAAAC	0.602																																																	0													75.0	74.0	75.0					17																	27228278		2203	4300	6503	SO:0001819	synonymous_variant	0			BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.412C>T	17.37:g.27228278G>A			Q96BH7	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.L138	ENST00000378895.4	37	c.412	CCDS11246.2	17																																																																																			DHRS13	-	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase	ENSG00000167536		0.602	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS13	HGNC	protein_coding	OTTHUMT00000255952.1	-	0.00	30	0	G	NM_144683		27228278	-1	tier1	-	no_errors	ENST00000378895	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	A
DHX35	60625	genome.wustl.edu	37	20	37647465	37647465	+	Missense_Mutation	SNP	G	G	A	rs552753338		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:37647465G>A	ENST00000252011.3	+	15	1454	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	DHX35_ENST00000373323.4_Missense_Mutation_p.R443H|DHX35_ENST00000373325.2_Missense_Mutation_p.R474H	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	474					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAAGACTGTCGCCTAACTGAA	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14206	0.0		0.0	False		,,,				2504	0.0																0													179.0	170.0	173.0					20																	37647465		2203	4300	6503	SO:0001583	missense	0			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1421G>A	20.37:g.37647465G>A	ENSP00000252011:p.Arg474His		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R474H	ENST00000252011.3	37	c.1421	CCDS13310.1	20	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572402	0.45798	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323	T;T;T	0.32023	1.47;1.47;1.47	5.94	0.0614	0.14340	Helicase-associated domain (2);	0.240231	0.50627	N	0.000102	T	0.22936	0.0554	L	0.50847	1.595	0.58432	D	0.999998	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.14227	-1.0480	10	0.12766	T	0.61	.	11.3213	0.49424	0.3829:0.0:0.6171:0.0	.	443;474	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	H	474;474;443	ENSP00000362422:R474H;ENSP00000252011:R474H;ENSP00000362420:R443H	ENSP00000252011:R474H	R	+	2	0	DHX35	37080879	0.996000	0.38824	0.967000	0.41034	0.959000	0.62525	2.368000	0.44222	0.128000	0.18479	-0.251000	0.11542	CGC	DHX35	-	pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom	ENSG00000101452		0.443	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2	-	0.00	55	0	G	NM_021931		37647465	+1	tier1	-	no_errors	ENST00000252011	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.895	A
DHX38	9785	genome.wustl.edu	37	16	72133686	72133686	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:72133686C>T	ENST00000268482.3	+	8	1525	c.1016C>T	c.(1015-1017)cCg>cTg	p.P339L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	339					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TTCCACAACCCGCTGGCCTAC	0.567											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(97;711 1442 7855 13832 28836)												0													93.0	76.0	82.0					16																	72133686		2198	4300	6498	SO:0001583	missense	0			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1016C>T	16.37:g.72133686C>T	ENSP00000268482:p.Pro339Leu	1135	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P339L	ENST00000268482.3	37	c.1016	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354492	0.61293	.	.	ENSG00000140829	ENST00000268482	T	0.03301	3.98	4.69	4.69	0.59074	.	0.062166	0.64402	D	0.000003	T	0.09642	0.0237	M	0.85373	2.75	0.80722	D	1	P	0.43826	0.818	B	0.38683	0.279	T	0.10520	-1.0626	10	0.52906	T	0.07	.	17.9961	0.89184	0.0:1.0:0.0:0.0	.	339	Q92620	PRP16_HUMAN	L	339	ENSP00000268482:P339L	ENSP00000268482:P339L	P	+	2	0	DHX38	70691187	1.000000	0.71417	0.976000	0.42696	0.184000	0.23303	7.405000	0.80007	2.316000	0.78162	0.557000	0.71058	CCG	DHX38	-	NULL	ENSG00000140829		0.567	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	-	0.00	46	0	C	NM_014003		72133686	+1	tier1	-	no_errors	ENST00000268482	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	T
DHX40	79665	genome.wustl.edu	37	17	57663593	57663593	+	Splice_Site	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:57663593A>G	ENST00000251241.4	+	11	1570	c.1423A>G	c.(1423-1425)Agg>Ggg	p.R475G	DHX40_ENST00000425628.3_Splice_Site_p.R398G|DHX40_ENST00000451169.2_Splice_Site_p.R427G	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	475							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGCTATTGACAGGTAAAAAAA	0.294																																																	0													26.0	24.0	25.0					17																	57663593		2199	4291	6490	SO:0001630	splice_region_variant	0			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1424+1A>G	17.37:g.57663593A>G			B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R475G	ENST00000251241.4	37	c.1423	CCDS11617.1	17	.	.	.	.	.	.	.	.	.	.	-	22.6	4.304921	0.81247	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.02579	4.24;4.24	4.8	4.8	0.61643	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	L	0.43923	1.385	0.80722	D	1	D;P	0.58268	0.982;0.897	P;P	0.60345	0.873;0.498	T	0.10683	-1.0619	10	0.54805	T	0.06	.	14.7072	0.69200	1.0:0.0:0.0:0.0	.	398;475	F5H625;Q8IX18	.;DHX40_HUMAN	G	475;398;475;427	ENSP00000251241:R475G;ENSP00000396039:R427G	ENSP00000251241:R475G	R	+	1	2	DHX40	55018375	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.344000	0.90055	1.948000	0.56530	0.450000	0.29827	AGG	DHX40	-	pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom	ENSG00000108406		0.294	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX40	HGNC	protein_coding	OTTHUMT00000446095.1	-	0.00	36	0	A	NM_024612	Missense_Mutation	57663593	+1	tier1	-	no_errors	ENST00000251241	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	G
DHX57	90957	genome.wustl.edu	37	2	39089427	39089427	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:39089427G>A	ENST00000295373.6	-	4	558	c.432C>T	c.(430-432)aaC>aaT	p.N144N	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	144							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACCGCTCATCGTTACAGCAAT	0.468																																					Melanoma(191;1090 2095 4375 23729 47341)												0													99.0	87.0	91.0					2																	39089427		2203	4300	6503	SO:0001819	synonymous_variant	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.432C>T	2.37:g.39089427G>A			A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N144	ENST00000295373.6	37	c.432	CCDS1800.1	2																																																																																			DHX57	-	NULL	ENSG00000163214		0.468	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	-	0.00	45	0	G	NM_145646		39089427	-1	tier1	-	no_errors	ENST00000295373	ensembl	human	known	74_37	silent	18.60	35	8	SNP	0.943	A
DHX9	1660	genome.wustl.edu	37	1	182852698	182852698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:182852698delC	ENST00000367549.3	+	26	3298	c.3188delC	c.(3187-3189)accfs	p.T1063fs	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1063				T -> P (in Ref. 1; AAB48855 and 3; CAA71668). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACTTTAGTCACCCCCCTGCAG	0.438																																					Colon(69;210 1162 3697 13559 39565)												0													125.0	117.0	120.0					1																	182852698		1850	4108	5958	SO:0001589	frameshift_variant	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3188delC	1.37:g.182852698delC	ENSP00000356520:p.Thr1063fs		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom	p.L1065fs	ENST00000367549.3	37	c.3188	CCDS41444.1	1																																																																																			DHX9	-	pfam_DUF1605	ENSG00000135829		0.438	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2		0.00	45	0	C	NM_030588		182852698	+1	tier1		no_errors	ENST00000367549	ensembl	human	known	74_37	frame_shift_del	24.44	34	11	DEL	0.984	-
DIAPH2	1730	genome.wustl.edu	37	X	96173528	96173528	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:96173528C>A	ENST00000324765.8	+	9	1237	c.890C>A	c.(889-891)gCt>gAt	p.A297D	DIAPH2_ENST00000373054.4_Missense_Mutation_p.A293D|DIAPH2_ENST00000355827.4_Missense_Mutation_p.A297D|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A297D|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A297D			O60879	DIAP2_HUMAN	diaphanous-related formin 2	297	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTTTTAGGGGCTATAACAACA	0.373																																																	0													87.0	78.0	81.0					X																	96173528		2203	4299	6502	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.890C>A	X.37:g.96173528C>A	ENSP00000321348:p.Ala297Asp		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.A297D	ENST00000324765.8	37	c.890	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	c	17.85	3.490472	0.64074	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.87	4.99	0.66335	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.065361	0.64402	D	0.000013	D	0.93360	0.7883	M	0.88775	2.98	0.50039	D	0.999846	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.986;0.999	D	0.94248	0.7491	10	0.72032	D	0.01	.	15.4756	0.75478	0.0:0.8612:0.1388:0.0	.	297;297;304	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	D	297;293;297;297;297;304	ENSP00000362152:A297D;ENSP00000362145:A293D;ENSP00000348082:A297D;ENSP00000362140:A297D;ENSP00000321348:A297D	ENSP00000321348:A297D	A	+	2	0	DIAPH2	96060184	1.000000	0.71417	0.984000	0.44739	0.953000	0.61014	5.211000	0.65219	1.214000	0.43395	0.534000	0.68092	GCT	DIAPH2	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000147202		0.373	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	-	0.00	76	0	C	NM_006729, NM_007309		96173528	+1	tier1	-	no_errors	ENST00000324765	ensembl	human	known	74_37	missense	17.39	57	12	SNP	1.000	A
DIAPH3	81624	genome.wustl.edu	37	13	60565348	60565348	+	Silent	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:60565348T>A	ENST00000400324.4	-	12	1525	c.1305A>T	c.(1303-1305)ggA>ggT	p.G435G	DIAPH3_ENST00000400319.1_Silent_p.G365G|DIAPH3_ENST00000267215.4_Silent_p.G435G|DIAPH3_ENST00000377908.2_Silent_p.G424G|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.G389G|DIAPH3_ENST00000400330.1_Silent_p.G435G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	435	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATAAAATATCCCTCTGCTC	0.294																																																	0													98.0	98.0	98.0					13																	60565348		1810	4071	5881	SO:0001819	synonymous_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.1305A>T	13.37:g.60565348T>A			A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.G435	ENST00000400324.4	37	c.1305	CCDS41898.1	13																																																																																			DIAPH3	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000139734		0.294	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	-	0.00	49	0	T	NM_001042517		60565348	-1	tier1	-	no_errors	ENST00000400324	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.995	A
DICER1	23405	genome.wustl.edu	37	14	95570269	95570269	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:95570269G>A	ENST00000526495.1	-	23	3755	c.3464C>T	c.(3463-3465)aCg>aTg	p.T1155M	DICER1_ENST00000541352.1_Missense_Mutation_p.T1155M|DICER1_ENST00000527414.1_Missense_Mutation_p.T1155M|DICER1_ENST00000393063.1_Missense_Mutation_p.T1155M|DICER1_ENST00000556045.1_Missense_Mutation_p.T53M|DICER1_ENST00000343455.3_Missense_Mutation_p.T1155M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1155					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCTGAGCAACGTTCTGCAGTT	0.438			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													63.0	65.0	64.0					14																	95570269		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3464C>T	14.37:g.95570269G>A	ENSP00000437256:p.Thr1155Met		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.T1155M	ENST00000526495.1	37	c.3464	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	G	6.297	0.422826	0.11928	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.86297	0.39;0.39;0.39;0.39;-2.1;0.7	5.24	-0.982	0.10266	.	1.639400	0.02749	N	0.117274	T	0.75265	0.3826	N	0.19112	0.55	0.09310	N	1	P;P;B	0.39131	0.661;0.661;0.349	B;B;B	0.30401	0.115;0.051;0.072	T	0.66492	-0.5910	10	0.42905	T	0.14	1.5193	6.5345	0.22346	0.3315:0.1181:0.5504:0.0	.	53;1155;1155	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	M	1155;1155;1155;1155;53;1155	ENSP00000343745:T1155M;ENSP00000437256:T1155M;ENSP00000376783:T1155M;ENSP00000435681:T1155M;ENSP00000451041:T53M;ENSP00000444719:T1155M	ENSP00000343745:T1155M	T	-	2	0	DICER1	94640022	0.004000	0.15560	0.001000	0.08648	0.694000	0.40290	1.145000	0.31577	-0.259000	0.09432	-1.069000	0.02264	ACG	DICER1	-	NULL	ENSG00000100697		0.438	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	-	0.00	37	0	G			95570269	-1	tier1	-	no_errors	ENST00000343455	ensembl	human	known	74_37	missense	30.91	38	17	SNP	0.001	A
DIEXF	27042	genome.wustl.edu	37	1	210016856	210016856	+	Silent	SNP	G	G	A	rs138167313		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:210016856G>A	ENST00000491415.2	+	11	1899	c.1842G>A	c.(1840-1842)acG>acA	p.T614T		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	614					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TGTCTCACACGCTCATCTATA	0.413																																																	0								G		0,4406		0,0,2203	129.0	110.0	116.0		1842	-11.6	0.0	1	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	DIEXF	NM_014388.6		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		614/757	210016856	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1842G>A	1.37:g.210016856G>A			O75992|Q4VY00|Q63HL9	Silent	SNP	pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase	p.T614	ENST00000491415.2	37	c.1842	CCDS1493.1	1																																																																																			DIEXF	-	pfam_Digest_organ_expansion_fac-prd	ENSG00000117597		0.413	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	-	0.00	27	0	G	NM_014388		210016856	+1	tier1	rs138167313	no_errors	ENST00000491415	ensembl	human	known	74_37	silent	28.00	18	7	SNP	0.020	A
DKC1	1736	genome.wustl.edu	37	X	153994771	153994771	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:153994771delA	ENST00000369550.5	+	5	658				SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin						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)					CTTCATTAAGAAAAAAAAAAA	0.418									Congenital Dyskeratosis																																								0																																										SO:0001627	intron_variant	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.448+96A>-	X.37:g.153994771delA			F5BSB3|O43845|Q96G67|Q9Y505	RNA	DEL	-	NULL	ENST00000369550.5	37	NULL	CCDS14761.1	X																																																																																			DKC1	-	-	ENSG00000130826		0.418	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5		0.00	25	0	A	NM_001363		153994771	+1	tier1		no_errors	ENST00000473552	ensembl	human	known	74_37	rna	21.05	15	4	DEL	0.000	-
DLC1	10395	genome.wustl.edu	37	8	12943086	12943087	+	3'UTR	DEL	TT	TT	-	rs60094700		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:12943086_12943087delTT	ENST00000276297.4	-	0	5229_5230				DLC1_ENST00000512044.2_3'UTR|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_3'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TACACataaatttttttttttt	0.297																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.*234AA>-	8.37:g.12943096_12943097delTT			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	RNA	DEL	-	NULL	ENST00000276297.4	37	NULL	CCDS5989.1	8																																																																																			DLC1	-	-	ENSG00000164741		0.297	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2		0.00	42	0	TT	NM_182643, NM_006094		12943087	-1	tier1		no_errors	ENST00000510318	ensembl	human	known	74_37	rna	12.07	51	7	DEL	0.000:0.000	-
DLC1	10395	genome.wustl.edu	37	8	13072282	13072282	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:13072282C>T	ENST00000276297.4	-	5	1758				DLC1_ENST00000512044.2_Intron|DLC1_ENST00000316609.5_Splice_Site_p.A450A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTGATTTTACCGCTGCTGGGT	0.448																																																	0													133.0	118.0	123.0					8																	13072282		2203	4300	6503	SO:0001627	intron_variant	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1348+90495G>A	8.37:g.13072282C>T			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	NULL	p.A450	ENST00000276297.4	37	c.1350	CCDS5989.1	8																																																																																			DLC1	-	NULL	ENSG00000164741		0.448	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0.00	50	0	C	NM_182643, NM_006094		13072282	-1	tier1	-	no_errors	ENST00000316609	ensembl	human	known	74_37	silent	11.59	61	8	SNP	0.000	T
DLGAP4	22839	genome.wustl.edu	37	20	35156540	35156541	+	3'UTR	DEL	TT	TT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:35156540_35156541delTT	ENST00000339266.5	+	0	4085_4086				RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_3'UTR|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373913.3_3'UTR|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000433238.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4						cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TAAGCAGCCCTTTTTTTTTTTG	0.446																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000339266.5:c.*1107TT>-	20.37:g.35156548_35156549delTT			E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	RNA	DEL	-	NULL	ENST00000339266.5	37	NULL		20																																																																																			DLGAP4	-	-	ENSG00000080845		0.446	DLGAP4-201	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding			0.00	69	0	TT	NM_014902		35156541	+1	tier1		no_errors	ENST00000475894	ensembl	human	known	74_37	rna	50.00	36	36	DEL	0.010:0.004	-
DLK2	65989	genome.wustl.edu	37	6	43419705	43419705	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:43419705C>T	ENST00000357338.3	-	5	1089	c.389G>A	c.(388-390)cGc>cAc	p.R130H	DLK2_ENST00000372488.3_Missense_Mutation_p.R130H|DLK2_ENST00000414245.1_Missense_Mutation_p.R124H|DLK2_ENST00000372485.1_Missense_Mutation_p.R124H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	130					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCAGCCTTGCGCTCGCAGTC	0.597																																																	0													108.0	77.0	88.0					6																	43419705		2203	4300	6503	SO:0001583	missense	0			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.389G>A	6.37:g.43419705C>T	ENSP00000349893:p.Arg130His		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R130H	ENST00000357338.3	37	c.389	CCDS4897.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.40|16.40	3.111904|3.111904	0.56398|0.56398	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000372496;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.87571	.|-2.27;-2.27;-2.27;-2.27	4.45|4.45	3.58|3.58	0.41010|0.41010	.|.	.|0.345003	.|0.27645	.|N	.|0.018442	T|T	0.57902|0.57902	0.2085|0.2085	N|N	0.25485|0.25485	0.75|0.75	0.31385|0.31385	N|N	0.678545|0.678545	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.36696|0.36696	-0.9737|-0.9737	5|10	.|0.12766	.|T	.|0.61	.|.	6.3194|6.3194	0.21208|0.21208	0.3058:0.5997:0.0:0.0945|0.3058:0.5997:0.0:0.0945	.|.	.|130	.|Q6UY11	.|DLK2_HUMAN	T|H	36|124;130;130;130;124	.|ENSP00000361563:R124H;ENSP00000361566:R130H;ENSP00000349893:R130H;ENSP00000398906:R124H	.|ENSP00000349893:R130H	A|R	-|-	1|2	0|0	DLK2|DLK2	43527683|43527683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.704000|1.704000	0.37857|0.37857	1.227000|1.227000	0.43598|0.43598	0.455000|0.455000	0.32223|0.32223	GCA|CGC	DLK2	-	NULL	ENSG00000171462		0.597	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DLK2	HGNC	protein_coding	OTTHUMT00000040618.1	-	0.00	35	0	C	NM_023932		43419705	-1	tier1	-	no_errors	ENST00000357338	ensembl	human	known	74_37	missense	43.59	22	17	SNP	1.000	T
DLX3	1747	genome.wustl.edu	37	17	48069105	48069105	+	Missense_Mutation	SNP	C	C	T	rs376543839		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:48069105C>T	ENST00000434704.2	-	3	865	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	DLX3_ENST00000512495.2_Missense_Mutation_p.A94T	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	214					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TCCCAGAGGGCGGGTGATGGT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14008	0.0		0.0	False		,,,				2504	0.0																0								C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	123.0	126.0	125.0		640	4.5	0.9	17		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	DLX3	NM_005220.2	58	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	214/288	48069105	3,13003	2203	4300	6503	SO:0001583	missense	0				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.640G>A	17.37:g.48069105C>T	ENSP00000389870:p.Ala214Thr		B3KQL6	Missense_Mutation	SNP	pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.A214T	ENST00000434704.2	37	c.640	CCDS11556.1	17	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275092	0.59649	4.54E-4	1.16E-4	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.91577	-2.85;-2.87	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	L	0.31926	0.97	0.58432	D	0.999999	B	0.24092	0.097	B	0.18871	0.023	T	0.82559	-0.0397	10	0.41790	T	0.15	-22.4613	14.7961	0.69878	0.0:1.0:0.0:0.0	.	214	O60479	DLX3_HUMAN	T	214;94	ENSP00000389870:A214T;ENSP00000449976:A94T	ENSP00000389870:A214T	A	-	1	0	DLX3	45424104	0.998000	0.40836	0.946000	0.38457	0.972000	0.66771	3.957000	0.56730	2.357000	0.79964	0.556000	0.70494	GCC	DLX3	-	NULL	ENSG00000064195		0.627	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX3	HGNC	protein_coding	OTTHUMT00000366307.1	-	0.00	63	0	C			48069105	-1	tier1	-	no_errors	ENST00000434704	ensembl	human	known	74_37	missense	54.55	15	18	SNP	0.998	T
DLX6	1750	genome.wustl.edu	37	7	96635385	96635385	+	Splice_Site	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:96635385G>A	ENST00000007660.5	+	1	95		c.e1+1		DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000518156.2_Silent_p.Q32Q|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA	NM_005222.3	NP_005213.3	P56179	DLX6_HUMAN	distal-less homeobox 6						anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					agcagcagcagcaacagcagc	0.657																																																	0													5.0	7.0	6.0					7																	96635385		1971	3959	5930	SO:0001630	splice_region_variant	0				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000007660.5:c.95+1G>A	7.37:g.96635385G>A			A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Splice_Site	SNP	-	e1+1	ENST00000007660.5	37	c.95+1		7																																																																																			DLX6	-	-	ENSG00000006377		0.657	DLX6-201	KNOWN	basic|appris_candidate	protein_coding	DLX6	HGNC	protein_coding		-	0.00	62	0	G	NM_005222	Intron	96635385	+1	tier1	-	no_errors	ENST00000007660	ensembl	human	known	74_37	splice_site	17.86	46	10	SNP	0.997	A
DMD	1756	genome.wustl.edu	37	X	32466646	32466646	+	Frame_Shift_Del	DEL	T	T	-	rs150333718		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:32466646delT	ENST00000357033.4	-	27	3919	c.3713delA	c.(3712-3714)aagfs	p.K1238fs	DMD_ENST00000378677.2_Frame_Shift_Del_p.K1234fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1238					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCAAGTTCCTTTTTTAAGGC	0.438																																																	0													201.0	158.0	173.0					X																	32466646		2202	4299	6501	SO:0001589	frameshift_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3713delA	X.37:g.32466646delT	ENSP00000354923:p.Lys1238fs		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.K1238fs	ENST00000357033.4	37	c.3713	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2		0.00	72	0	T	NM_004006		32466646	-1	tier1		no_errors	ENST00000357033	ensembl	human	known	74_37	frame_shift_del	14.29	54	9	DEL	1.000	-
DMD	1756	genome.wustl.edu	37	X	32717262	32717262	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:32717262delA	ENST00000357033.4	-	8	1004	c.798delT	c.(796-798)tttfs	p.F266fs	DMD_ENST00000288447.4_Frame_Shift_Del_p.F258fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.F262fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	266					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GATGTAACTGAAAATGTTCTT	0.373																																																	0													188.0	150.0	163.0					X																	32717262		2202	4300	6502	SO:0001589	frameshift_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.798delT	X.37:g.32717262delA	ENSP00000354923:p.Phe266fs		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.Q267fs	ENST00000357033.4	37	c.798	CCDS14233.1	X																																																																																			DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2		0.00	94	0	A	NM_004006		32717262	-1	tier1		no_errors	ENST00000357033	ensembl	human	known	74_37	frame_shift_del	31.88	47	22	DEL	0.087	-
DMTF1	9988	genome.wustl.edu	37	7	86817539	86817539	+	Missense_Mutation	SNP	G	G	T	rs146399689	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:86817539G>T	ENST00000394703.5	+	15	1896	c.1333G>T	c.(1333-1335)Gcc>Tcc	p.A445S	DMTF1_ENST00000331242.7_Missense_Mutation_p.A445S|DMTF1_ENST00000432937.2_Missense_Mutation_p.A357S|DMTF1_ENST00000414194.2_Missense_Mutation_p.A179S|DMTF1_ENST00000413276.2_Intron	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	445	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GATAAGAGTTGCCCGCTTGGA	0.428													G|||	7	0.00139776	0.0053	0.0	5008	,	,		17813	0.0		0.0	False		,,,				2504	0.0																0								G	SER/ALA,SER/ALA,SER/ALA	12,4394	19.1+/-41.9	0,12,2191	169.0	160.0	163.0		1069,1333,1333	5.6	1.0	7	dbSNP_134	163	0,8600		0,0,4300	yes	missense,missense,missense	DMTF1	NM_001142326.1,NM_001142327.1,NM_021145.3	99,99,99	0,12,6491	TT,TG,GG		0.0,0.2724,0.0923	possibly-damaging,possibly-damaging,possibly-damaging	357/673,445/761,445/761	86817539	12,12994	2203	4300	6503	SO:0001583	missense	0			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1333G>T	7.37:g.86817539G>T	ENSP00000378193:p.Ala445Ser		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A445S	ENST00000394703.5	37	c.1333	CCDS5601.1	7	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	18.65	3.669151	0.67814	0.002724	0.0	ENSG00000135164	ENST00000331242;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T	0.51817	0.74;0.74;0.74;0.69	5.57	5.57	0.84162	.	0.196417	0.51477	D	0.000085	T	0.18841	0.0452	N	0.19112	0.55	0.47659	D	0.999487	P	0.42692	0.787	B	0.37387	0.248	T	0.04386	-1.0955	10	0.15066	T	0.55	-7.1891	18.9103	0.92481	0.0:0.0:1.0:0.0	.	445	Q9Y222	DMTF1_HUMAN	S	445;357;445;179	ENSP00000332171:A445S;ENSP00000412532:A357S;ENSP00000378193:A445S;ENSP00000415910:A179S	ENSP00000332171:A445S	A	+	1	0	DMTF1	86655475	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	5.130000	0.64745	2.780000	0.95670	0.655000	0.94253	GCC	DMTF1	-	NULL	ENSG00000135164		0.428	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	DMTF1	HGNC	protein_coding	OTTHUMT00000334025.5		0.00	108	0	G	NM_021145		86817539	+1			no_errors	ENST00000331242	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.994	T
DNA2	1763	genome.wustl.edu	37	10	70209862	70209862	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:70209862A>G	ENST00000358410.3	-	6	912	c.862T>C	c.(862-864)Tat>Cat	p.Y288H	DNA2_ENST00000399179.2_Missense_Mutation_p.Y288H|DNA2_ENST00000399180.2_Missense_Mutation_p.Y374H	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	288	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TTTGTTTTATACCCTCGATGT	0.343																																																	0													97.0	85.0	89.0					10																	70209862		1826	4080	5906	SO:0001583	missense	0			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.862T>C	10.37:g.70209862A>G	ENSP00000351185:p.Tyr288His		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase	p.Y374H	ENST00000358410.3	37	c.1120		10	.	.	.	.	.	.	.	.	.	.	A	9.017	0.983936	0.18889	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.93604	-2.76;-3.25;-2.74	5.1	-2.16	0.07080	.	1.695430	0.02974	N	0.144671	D	0.85410	0.5690	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.70160	-0.4948	10	0.33141	T	0.24	.	0.9607	0.01395	0.4261:0.2264:0.1286:0.2189	.	288;288	F8VR31;P51530	.;DNA2L_HUMAN	H	288;374;288;288	ENSP00000382133:Y374H;ENSP00000382132:Y288H;ENSP00000351185:Y288H	ENSP00000351185:Y288H	Y	-	1	0	DNA2	69879868	0.000000	0.05858	0.000000	0.03702	0.819000	0.46315	0.429000	0.21412	-0.703000	0.05049	0.533000	0.62120	TAT	DNA2	-	NULL	ENSG00000138346		0.343	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	-	0.00	85	0	A			70209862	-1	tier1	-	no_errors	ENST00000399180	ensembl	human	known	74_37	missense	12.36	78	11	SNP	0.000	G
DNAH10	196385	genome.wustl.edu	37	12	124265628	124265628	+	Splice_Site	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:124265628delT	ENST00000409039.3	+	6	465	c.440delT	c.(439-441)gtt>gt	p.V147fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	147	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCATTTCAGGTTTTTTTGCCA	0.368																																																	0										10,4220		2,6,2107	34.0	40.0	38.0			5.3	1.0	12		38	8,8236		1,6,4115	no	frameshift-near-splice	DNAH10	NM_207437.3		3,12,6222	A1A1,A1R,RR		0.097,0.2364,0.1443			124265628	18,12456	1315	2305	3620	SO:0001630	splice_region_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.439-1T>-	12.37:g.124265628delT			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.L149fs	ENST00000409039.3	37	c.440	CCDS9255.2	12																																																																																			DNAH10	-	NULL	ENSG00000197653		0.368	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3		0.00	37	0	T		Frame_Shift_Del	124265628	+1	tier1		no_errors	ENST00000409039	ensembl	human	known	74_37	frame_shift_del	20.00	28	7	DEL	0.969	-
DNAH10	196385	genome.wustl.edu	37	12	124272528	124272528	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:124272528G>T	ENST00000409039.3	+	10	1441	c.1416G>T	c.(1414-1416)caG>caT	p.Q472H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	472	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCATCTGCCAGGACCTCTCCG	0.617																																																	0													46.0	35.0	38.0					12																	124272528		2199	4297	6496	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1416G>T	12.37:g.124272528G>T	ENSP00000386770:p.Gln472His		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.Q472H	ENST00000409039.3	37	c.1416	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670129	0.29693	.	.	ENSG00000197653	ENST00000409039	T	0.54479	0.57	5.55	4.65	0.58169	Dynein heavy chain, domain-1 (1);	0.495399	0.18411	N	0.142045	T	0.45657	0.1353	L	0.54323	1.7	0.38776	D	0.954667	B	0.06786	0.001	B	0.11329	0.006	T	0.47611	-0.9104	10	0.44086	T	0.13	.	8.2262	0.31570	0.1911:0.0:0.8089:0.0	.	472	Q8IVF4	DYH10_HUMAN	H	472	ENSP00000386770:Q472H	ENSP00000386770:Q472H	Q	+	3	2	DNAH10	122838481	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	2.032000	0.41127	2.601000	0.87937	0.561000	0.74099	CAG	DNAH10	-	pfam_Dynein_heavy_dom-1	ENSG00000197653		0.617	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3		0.00	69	0	G			124272528	+1			no_errors	ENST00000409039	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
DNAH10	196385	genome.wustl.edu	37	12	124325934	124325934	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:124325934G>A	ENST00000409039.3	+	29	4873	c.4848G>A	c.(4846-4848)gcG>gcA	p.A1616A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1616	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGTGTCCGCGATGATTTCAG	0.507																																																	0													238.0	239.0	238.0					12																	124325934		2022	4168	6190	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4848G>A	12.37:g.124325934G>A			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.A1616	ENST00000409039.3	37	c.4848	CCDS9255.2	12																																																																																			DNAH10	-	pfam_Dynein_heavy_dom-2	ENSG00000197653		0.507	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0.00	48	0	G			124325934	+1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	silent	23.40	36	11	SNP	0.995	A
DNAH11	8701	genome.wustl.edu	37	7	21646139	21646140	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:21646139_21646140insA	ENST00000409508.3	+	19	3775_3776	c.3744_3745insA	c.(3745-3747)aaafs	p.K1249fs	DNAH11_ENST00000328843.6_Frame_Shift_Ins_p.K1249fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1249	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTTATAAGGAAAAAATGTAT	0.337									Kartagener syndrome																																								0																																										SO:0001589	frameshift_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3750dupA	7.37:g.21646145_21646145dupA	ENSP00000475939:p.Lys1249fs		Q9UJ82	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.C1250fs	ENST00000409508.3	37	c.3744_3745		7																																																																																			DNAH11	-	NULL	ENSG00000105877		0.337	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6		0.00	119	0	0	NM_003777		21646140	+1			no_errors	ENST00000328843	ensembl	human	known	74_37	frame_shift_ins	7.89	105	9	INS	1.000:1.000	A
DNAH14	127602	genome.wustl.edu	37	1	225267204	225267204	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:225267204C>T	ENST00000445597.2	+	14	2522	c.2522C>T	c.(2521-2523)gCa>gTa	p.A841V	DNAH14_ENST00000430092.1_Missense_Mutation_p.A907V|DNAH14_ENST00000439375.2_Missense_Mutation_p.A907V			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	841					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AACTTGGAAGCATGTATCAGT	0.279																																																	0													83.0	75.0	77.0					1																	225267204		692	1590	2282	SO:0001583	missense	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.2522C>T	1.37:g.225267204C>T	ENSP00000409472:p.Ala841Val		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.A907V	ENST00000445597.2	37	c.2720		1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901576	0.52227	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	T;T;T	0.30448	2.52;1.53;1.53	5.49	-0.916	0.10489	.	.	.	.	.	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.27971	-1.0058	9	0.30078	T	0.28	.	5.7579	0.18182	0.4474:0.3902:0.0:0.1624	.	907	Q0VDD8-4	.	V	841;907;907	ENSP00000409472:A841V;ENSP00000414402:A907V;ENSP00000392061:A907V	ENSP00000414402:A907V	A	+	2	0	DNAH14	223333827	0.000000	0.05858	0.095000	0.20976	0.438000	0.31896	-0.650000	0.05378	0.160000	0.19432	0.508000	0.49915	GCA	DNAH14	-	NULL	ENSG00000185842		0.279	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	-	0.00	47	0	C	XM_059166		225267204	+1	tier1	-	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	18.33	49	11	SNP	0.002	T
DNAH2	146754	genome.wustl.edu	37	17	7646597	7646597	+	Intron	DEL	T	T	-	rs564117935		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7646597delT	ENST00000572933.1	+	12	3364				DNAH2_ENST00000389173.2_Intron|DNAH2_ENST00000570791.1_Frame_Shift_Del_p.F765fs|DNAH2_ENST00000082259.3_Frame_Shift_Del_p.F765fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTCATTTTACTTTTTTTTTTC	0.338																																																	0																																										SO:0001627	intron_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1904+137T>-	17.37:g.7646597delT			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom-1	p.S766fs	ENST00000572933.1	37	c.2287	CCDS32551.1	17																																																																																			DNAH2	-	NULL	ENSG00000183914		0.338	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1		0.00	44	0	T	NM_020877		7646597	+1	tier1		no_errors	ENST00000082259	ensembl	human	known	74_37	frame_shift_del	22.64	41	12	DEL	0.000	-
DNAH3	55567	genome.wustl.edu	37	16	21128571	21128572	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:21128571_21128572insA	ENST00000261383.3	-	12	1765_1766	c.1766_1767insT	c.(1765-1767)ttgfs	p.L589fs	DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.L589fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	589	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGTTTGAATCAAAAAATCAGA	0.356																																																	0																																										SO:0001589	frameshift_variant	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1767dupT	16.37:g.21128577_21128577dupA	ENSP00000261383:p.Leu589fs		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.L589fs	ENST00000261383.3	37	c.1767_1766	CCDS10594.1	16																																																																																			DNAH3	-	superfamily_P-loop_NTPase	ENSG00000158486		0.356	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1		0.00	44	0	0	NM_017539		21128572	-1			no_errors	ENST00000261383	ensembl	human	known	74_37	frame_shift_ins	12.96	47	7	INS	0.102:0.122	A
DNAH3	55567	genome.wustl.edu	37	16	21136676	21136676	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:21136676G>A	ENST00000261383.3	-	9	1223	c.1224C>T	c.(1222-1224)tgC>tgT	p.C408C	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Silent_p.C408C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	408	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAAGCTGGGCGCAGGTGGGGA	0.517																																																	0													63.0	66.0	65.0					16																	21136676		2201	4300	6501	SO:0001819	synonymous_variant	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1224C>T	16.37:g.21136676G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.C408	ENST00000261383.3	37	c.1224	CCDS10594.1	16																																																																																			DNAH3	-	NULL	ENSG00000158486		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0.00	37	0	G	NM_017539		21136676	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	silent	23.81	32	10	SNP	1.000	A
DNAH5	1767	genome.wustl.edu	37	5	13864702	13864702	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:13864702delA	ENST00000265104.4	-	28	4504	c.4400delT	c.(4399-4401)ttgfs	p.L1467fs	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1467	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTCAGGTCCAAAAAAGCCTG	0.498									Kartagener syndrome																																								0													57.0	57.0	57.0					5																	13864702		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4400delT	5.37:g.13864702delA	ENSP00000265104:p.Leu1467fs		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L1467fs	ENST00000265104.4	37	c.4400	CCDS3882.1	5																																																																																			DNAH5	-	pfam_Dynein_heavy_dom-2	ENSG00000039139		0.498	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0.00	60	0	A	NM_001369		13864702	-1	tier1		no_errors	ENST00000265104	ensembl	human	known	74_37	frame_shift_del	11.11	56	7	DEL	0.990	-
DNAH6	1768	genome.wustl.edu	37	2	84752796	84752796	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:84752796delA	ENST00000237449.6	+	2	341	c.333delA	c.(331-333)gcafs	p.A111fs	DNAH6_ENST00000398278.2_Frame_Shift_Del_p.A111fs|DNAH6_ENST00000389394.3_Frame_Shift_Del_p.A111fs|DNAH6_ENST00000468661.1_3'UTR			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	111	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TAAGCATAGCAAAAAAAAGTT	0.323																																																	0													102.0	83.0	89.0					2																	84752796		692	1591	2283	SO:0001589	frameshift_variant	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.333delA	2.37:g.84752796delA	ENSP00000237449:p.Ala111fs		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S114fs	ENST00000237449.6	37	c.333	CCDS46348.1	2																																																																																			DNAH6	-	NULL	ENSG00000115423		0.323	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2		0.00	72	0	A	NM_001370		84752796	+1	tier1		no_errors	ENST00000237449	ensembl	human	known	74_37	frame_shift_del	11.11	64	8	DEL	0.000	-
DNAJB6	10049	genome.wustl.edu	37	7	157208759	157208761	+	In_Frame_Del	DEL	GAA	GAA	-	rs565527346	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:157208759_157208761delGAA	ENST00000262177.4	+	10	1153_1155	c.948_950delGAA	c.(946-951)tcgaag>tcg	p.K320del	DNAJB6_ENST00000494267.1_3'UTR|DNAJB6_ENST00000452797.2_In_Frame_Del_p.K271del|DNAJB6_ENST00000443280.1_In_Frame_Del_p.K205del	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	320					intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		gagaggagtcgaagaagaagaag	0.557																																					Esophageal Squamous(46;195 967 1350 20350 43814)												0										1,4263		0,1,2131						0.2	0.7			125	2,8252		0,2,4125	no	coding	DNAJB6	NM_058246.3		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001651	inframe_deletion	0			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.948_950delGAA	7.37:g.157208768_157208770delGAA	ENSP00000262177:p.Lys320del		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	In_Frame_Del	DEL	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.K320in_frame_del	ENST00000262177.4	37	c.948_950	CCDS5946.1	7																																																																																			DNAJB6	-	NULL	ENSG00000105993		0.557	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	DNAJB6	HGNC	protein_coding	OTTHUMT00000348119.2		0.00	49	0	GAA			157208761	+1	tier1		no_errors	ENST00000262177	ensembl	human	known	74_37	in_frame_del	33.33	32	16	DEL	0.982:1.000:1.000	-
TRAP1	10131	genome.wustl.edu	37	16	3713375	3713375	+	Intron	SNP	G	G	A	rs551498401		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:3713375G>A	ENST00000246957.5	-	14	1797				TRAP1_ENST00000538171.1_Intron|TRAP1_ENST00000575671.1_Intron|DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_Intron|TRAP1_ENST00000573872.1_5'Flank	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1						chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CAGGAGAGGCGTGCGGGGAGT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		16793	0.001		0.0	False		,,,				2504	0.0																0													62.0	59.0	60.0					16																	3713375		2197	4300	6497	SO:0001627	intron_variant	0			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1708+49C>T	16.37:g.3713375G>A			B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	RNA	SNP	-	NULL	ENST00000246957.5	37	NULL	CCDS10508.1	16																																																																																			DNASE1	-	-	ENSG00000213918		0.617	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1	HGNC	protein_coding	OTTHUMT00000251586.2	-	0.00	32	0	G	NM_016292		3713375	+1	tier1	-	no_errors	ENST00000575152	ensembl	human	known	74_37	rna	25.00	18	6	SNP	0.000	A
DNM1P34	729809	genome.wustl.edu	37	15	75593356	75593356	+	RNA	SNP	C	C	T	rs573570504		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:75593356C>T	ENST00000567292.1	-	0	1213							Q6PK57	DMP34_HUMAN	DNM1 pseudogene 34							microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TGCATGAGCCCGCTGGCTGGC	0.622													-|||	1	0.000199681	0.0	0.0	5008	,	,		18780	0.0		0.001	False		,,,				2504	0.0																0																																												0			AJ576251		15q24.2	2013-04-25			ENSG00000260357	ENSG00000260357			35181	pseudogene	pseudogene				DNM1DN8@			Standard	NG_009143		Approved	DNM1DN8-1, DNM1DN8-5	uc002azx.1	Q6PK57	OTTHUMG00000172673		15.37:g.75593356C>T				RNA	SNP	-	NULL	ENST00000567292.1	37	NULL		15																																																																																			DNM1P34	-	-	ENSG00000260357		0.622	DNM1P34-001	KNOWN	basic	processed_transcript	DNM1P34	HGNC	pseudogene	OTTHUMT00000419799.1		0.00	24	0	C	NG_009143		75593356	-1			no_errors	ENST00000567292	ensembl	human	known	74_37	rna	21.43	22	6	SNP	0.001	T
DNM3	26052	genome.wustl.edu	37	1	171810847	171810847	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:171810847G>T	ENST00000355305.5	+	1	208	c.51G>T	c.(49-51)caG>caT	p.Q17H	DNM3_ENST00000367731.1_Missense_Mutation_p.Q17H|DNM3_ENST00000520906.1_Missense_Mutation_p.Q17H|DNM3_ENST00000367733.2_Missense_Mutation_p.Q17H|DNM3_ENST00000358155.4_Missense_Mutation_p.Q17H			Q9UQ16	DYN3_HUMAN	dynamin 3	17					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACCGTCTGCAGGACGCGTTTT	0.682																																																	0													22.0	32.0	29.0					1																	171810847		2168	4284	6452	SO:0001583	missense	0			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.51G>T	1.37:g.171810847G>T	ENSP00000347457:p.Gln17His		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.Q17H	ENST00000355305.5	37	c.51		1	.	.	.	.	.	.	.	.	.	.	g	32	5.167540	0.94768	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81	3.6	3.6	0.41247	.	0.000000	0.64402	D	0.000001	D	0.97182	0.9079	M	0.83384	2.64	0.58432	D	0.999997	B;D;D;B	0.89917	0.228;1.0;1.0;0.049	B;D;D;B	0.74023	0.059;0.982;0.982;0.059	D	0.97786	1.0235	10	0.87932	D	0	.	14.2847	0.66238	0.0:0.0:1.0:0.0	.	17;17;17;17	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	H	17	ENSP00000350876:Q17H;ENSP00000356707:Q17H;ENSP00000347457:Q17H;ENSP00000356705:Q17H;ENSP00000429701:Q17H	ENSP00000347457:Q17H	Q	+	3	2	DNM3	170077470	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.462000	0.60121	1.993000	0.58246	0.586000	0.80456	CAG	DNM3	-	superfamily_P-loop_NTPase,smart_Dynamin_GTPase	ENSG00000197959		0.682	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	HGNC	protein_coding	OTTHUMT00000084531.1	-	0.00	132	0	G	NM_015569		171810847	+1	tier1	-	no_errors	ENST00000358155	ensembl	human	known	74_37	missense	20.16	103	26	SNP	1.000	T
DNMT1	1786	genome.wustl.edu	37	19	10254537	10254537	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10254537G>A	ENST00000340748.4	-	28	3208	c.2973C>T	c.(2971-2973)taC>taT	p.Y991Y	DNMT1_ENST00000540357.1_Silent_p.Y991Y|DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000359526.4_Silent_p.Y1007Y			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	991	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GGCCAATTCGGTAGGGCTCAG	0.547																																																	0													254.0	238.0	243.0					19																	10254537		2203	4300	6503	SO:0001819	synonymous_variant	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2973C>T	19.37:g.10254537G>A			A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.Y1007	ENST00000340748.4	37	c.3021	CCDS12228.1	19																																																																																			DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000130816		0.547	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1		0.00	45	0	G	NM_001379		10254537	-1			no_errors	ENST00000359526	ensembl	human	known	74_37	silent	11.54	46	6	SNP	1.000	A
DNTTIP2	30836	genome.wustl.edu	37	1	94337659	94337659	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:94337659delT	ENST00000436063.2	-	5	2093	c.2036delA	c.(2035-2037)aatfs	p.N679fs		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ATCTCTATCATTTTTCTTGTA	0.378																																																	0													279.0	273.0	275.0					1																	94337659		1861	4103	5964	SO:0001589	frameshift_variant	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.2036delA	1.37:g.94337659delT	ENSP00000411010:p.Asn679fs		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Frame_Shift_Del	DEL	pfam_Fcf2	p.N679fs	ENST00000436063.2	37	c.2036	CCDS44174.1	1																																																																																			DNTTIP2	-	pfam_Fcf2	ENSG00000067334		0.378	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2		0.00	91	0	T	NM_014597		94337659	-1	tier1		no_errors	ENST00000436063	ensembl	human	known	74_37	frame_shift_del	14.63	70	12	DEL	1.000	-
DOC2A	8448	genome.wustl.edu	37	16	30018407	30018407	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:30018407G>A	ENST00000350119.4	-	7	849	c.659C>T	c.(658-660)gCg>gTg	p.A220V	DOC2A_ENST00000564979.1_Missense_Mutation_p.A220V|DOC2A_ENST00000564944.1_Missense_Mutation_p.A220V	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	220	Interaction with UNC13D.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						AGAGGGGGACGCCAGCTGAGG	0.672																																																	0													27.0	30.0	29.0					16																	30018407		2196	4299	6495	SO:0001583	missense	0			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.659C>T	16.37:g.30018407G>A	ENSP00000340017:p.Ala220Val		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.A220V	ENST00000350119.4	37	c.659	CCDS10666.1	16	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601257	0.28534	.	.	ENSG00000149927	ENST00000350119	T	0.62639	0.01	5.14	4.17	0.49024	C2 calcium/lipid-binding domain, CaLB (1);	0.381339	0.22150	N	0.063935	T	0.43322	0.1242	N	0.22421	0.69	0.30217	N	0.797167	B	0.28801	0.223	B	0.14578	0.011	T	0.41448	-0.9508	10	0.32370	T	0.25	.	10.9919	0.47553	0.0918:0.0:0.9082:0.0	.	220	Q14183	DOC2A_HUMAN	V	220	ENSP00000340017:A220V	ENSP00000340017:A220V	A	-	2	0	DOC2A	29925908	0.345000	0.24835	0.999000	0.59377	0.261000	0.26267	1.485000	0.35519	2.552000	0.86080	0.491000	0.48974	GCG	DOC2A	-	superfamily_C2_dom,pirsf_Doc2	ENSG00000149927		0.672	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOC2A	HGNC	protein_coding	OTTHUMT00000255148.2	-	0.00	65	0	G	NM_003586		30018407	-1	tier1	-	no_errors	ENST00000350119	ensembl	human	known	74_37	missense	31.51	50	23	SNP	0.995	A
DOCK1	1793	genome.wustl.edu	37	10	129242496	129242496	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:129242496C>T	ENST00000280333.6	+	50	5412	c.5303C>T	c.(5302-5304)cCc>cTc	p.P1768L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1768					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGCAAACACCCCCTCCAGTT	0.597																																																	0													88.0	101.0	97.0					10																	129242496		2098	4213	6311	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.5303C>T	10.37:g.129242496C>T	ENSP00000280333:p.Pro1768Leu		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.P1768L	ENST00000280333.6	37	c.5303		10	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874398	0.33069	.	.	ENSG00000150760	ENST00000280333	T	0.03745	3.82	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	M	0.63843	1.955	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.21177	-1.0253	10	0.15952	T	0.53	.	17.8963	0.88890	0.0:1.0:0.0:0.0	.	1768;1768	B2RUU3;Q14185	.;DOCK1_HUMAN	L	1768	ENSP00000280333:P1768L	ENSP00000280333:P1768L	P	+	2	0	DOCK1	129132486	1.000000	0.71417	0.144000	0.22314	0.066000	0.16364	7.048000	0.76606	2.456000	0.83038	0.655000	0.94253	CCC	DOCK1	-	NULL	ENSG00000150760		0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0.00	38	0	C	NM_001380		129242496	+1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.997	T
DOCK2	1794	genome.wustl.edu	37	5	169484630	169484630	+	Missense_Mutation	SNP	C	C	T	rs561287880		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:169484630C>T	ENST00000256935.8	+	44	4507	c.4427C>T	c.(4426-4428)cCg>cTg	p.P1476L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.P537L|DOCK2_ENST00000520908.1_Missense_Mutation_p.P968L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1476	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACAAGCTGCCGGGGATCCTG	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15193	0.0		0.0	False		,,,				2504	0.0																0													118.0	96.0	104.0					5																	169484630		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4427C>T	5.37:g.169484630C>T	ENSP00000256935:p.Pro1476Leu		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.P1476L	ENST00000256935.8	37	c.4427	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.138124	0.94560	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.51817	0.69;0.69;0.69	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84939	0.0864	10	0.87932	D	0	.	19.3254	0.94260	0.0:1.0:0.0:0.0	.	968;32;1476	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	L	1476;968;537	ENSP00000256935:P1476L;ENSP00000429283:P968L;ENSP00000438827:P537L	ENSP00000256935:P1476L	P	+	2	0	DOCK2	169417208	1.000000	0.71417	0.474000	0.27266	0.780000	0.44128	7.814000	0.86154	2.556000	0.86216	0.655000	0.94253	CCG	DOCK2	-	pfam_DOCK_C	ENSG00000134516		0.582	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0.00	57	0	C	NM_004946		169484630	+1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	T
DOCK3	1795	genome.wustl.edu	37	3	51264793	51264793	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:51264793G>T	ENST00000266037.9	+	16	1480	c.1457G>T	c.(1456-1458)cGc>cTc	p.R486L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	486	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATAGTCCTCGCTGGGGAGAA	0.483																																																	0													139.0	133.0	135.0					3																	51264793		1836	4086	5922	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1457G>T	3.37:g.51264793G>T	ENSP00000266037:p.Arg486Leu		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R486L	ENST00000266037.9	37	c.1457	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.386800	0.95967	.	.	ENSG00000088538	ENST00000266037	T	0.14391	2.51	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23619	-1.0183	10	0.30078	T	0.28	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	486	Q8IZD9	DOCK3_HUMAN	L	486	ENSP00000266037:R486L	ENSP00000266037:R486L	R	+	2	0	DOCK3	51239833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGC	DOCK3	-	NULL	ENSG00000088538		0.483	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0.00	63	0	G	NM_004947		51264793	+1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
DOCK3	1795	genome.wustl.edu	37	3	51417604	51417604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:51417604delC	ENST00000266037.9	+	52	5572	c.5549delC	c.(5548-5550)accfs	p.T1850fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P1852fs*45(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTGGGTGATACCCCCCCAGCC	0.597																																																	1	Deletion - Frameshift(1)	large_intestine(1)											83.0	84.0	84.0					3																	51417604		1912	4118	6030	SO:0001589	frameshift_variant	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5549delC	3.37:g.51417604delC	ENSP00000266037:p.Thr1850fs		O15017	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.P1852fs	ENST00000266037.9	37	c.5549	CCDS46835.1	3																																																																																			DOCK3	-	NULL	ENSG00000088538		0.597	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5		0.00	45	0	C	NM_004947		51417604	+1	tier1		no_errors	ENST00000266037	ensembl	human	known	74_37	frame_shift_del	28.95	27	11	DEL	0.115	-
DOCK6	57572	genome.wustl.edu	37	19	11319375	11319375	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:11319375C>T	ENST00000294618.7	-	39	5086	c.5075G>A	c.(5074-5076)gGc>gAc	p.G1692D	DOCK6_ENST00000319867.7_Missense_Mutation_p.G1031D|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1692	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGTGAAGTAGCCGGCTGCCTG	0.647																																																	0													35.0	40.0	38.0					19																	11319375		2002	4153	6155	SO:0001583	missense	0				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5075G>A	19.37:g.11319375C>T	ENSP00000294618:p.Gly1692Asp		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.G1692D	ENST00000294618.7	37	c.5075	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	c	9.419	1.082626	0.20309	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.20069	2.84;2.1	4.81	-0.247	0.13019	.	0.312116	0.33235	N	0.005135	T	0.06280	0.0162	N	0.01493	-0.835	0.29688	N	0.841196	B;B;B	0.10296	0.003;0.0;0.003	B;B;B	0.10450	0.005;0.001;0.005	T	0.37103	-0.9720	10	0.14656	T	0.56	-5.2199	10.3126	0.43718	0.0743:0.3846:0.541:0.0	.	1031;1692;1031	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	D	1692;1031	ENSP00000294618:G1692D;ENSP00000321556:G1031D	ENSP00000294618:G1692D	G	-	2	0	DOCK6	11180375	1.000000	0.71417	0.153000	0.22517	0.802000	0.45316	3.062000	0.49971	-0.079000	0.12707	-0.152000	0.13540	GGC	DOCK6	-	NULL	ENSG00000130158		0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	-	0.00	20	0	C	NM_020812		11319375	-1	tier1	-	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.954	T
DOCK6	57572	genome.wustl.edu	37	19	11332655	11332655	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:11332655C>A	ENST00000294618.7	-	28	3433	c.3422G>T	c.(3421-3423)aGc>aTc	p.S1141I	DOCK6_ENST00000319867.7_Missense_Mutation_p.S480I	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1141					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACATAGCAGGCTGTGCACAGC	0.597																																																	0													60.0	66.0	64.0					19																	11332655		2132	4237	6369	SO:0001583	missense	0				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3422G>T	19.37:g.11332655C>A	ENSP00000294618:p.Ser1141Ile		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.S1141I	ENST00000294618.7	37	c.3422	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636691	0.47049	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.24538	1.85;1.85	4.65	-0.0943	0.13645	.	0.372648	0.28821	N	0.014023	T	0.26085	0.0636	L	0.50333	1.59	0.42971	D	0.994438	B;B	0.29590	0.25;0.236	B;B	0.41988	0.372;0.206	T	0.10706	-1.0618	10	0.87932	D	0	-15.2202	4.6833	0.12745	0.0:0.4185:0.1543:0.4271	.	480;1141	C9IZV6;Q96HP0	.;DOCK6_HUMAN	I	1141;480	ENSP00000294618:S1141I;ENSP00000321556:S480I	ENSP00000294618:S1141I	S	-	2	0	DOCK6	11193655	0.999000	0.42202	0.996000	0.52242	0.611000	0.37282	0.873000	0.28052	-0.051000	0.13334	-0.339000	0.08088	AGC	DOCK6	-	NULL	ENSG00000130158		0.597	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1		0.00	24	0	C	NM_020812		11332655	-1			no_errors	ENST00000294618	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.998	A
DOCK8	81704	genome.wustl.edu	37	9	289570	289570	+	Silent	SNP	C	C	T	rs139097471		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:289570C>T	ENST00000453981.1	+	4	505	c.393C>T	c.(391-393)atC>atT	p.I131I	DOCK8_ENST00000469391.1_Silent_p.I63I|DOCK8_ENST00000432829.2_Silent_p.I63I			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	131					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTGGCTAATCGTGAACCGGA	0.333													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18523	0.0		0.0	False		,,,				2504	0.0																0								C	,,	1,4405	2.1+/-5.4	0,1,2202	191.0	182.0	185.0		189,189,393	-2.3	0.9	9	dbSNP_134	185	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	63/2000,63/2032,131/2100	289570	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.393C>T	9.37:g.289570C>T			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.I131	ENST00000453981.1	37	c.393	CCDS6440.2	9																																																																																			DOCK8	-	pfam_DOCK_C/D_N	ENSG00000107099		0.333	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	-	0.00	85	0	C	XM_036307		289570	+1	tier1	rs139097471	no_errors	ENST00000453981	ensembl	human	known	74_37	silent	12.94	74	11	SNP	0.922	T
DOCK8	81704	genome.wustl.edu	37	9	328099	328099	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:328099C>T	ENST00000453981.1	+	9	1084	c.972C>T	c.(970-972)gcC>gcT	p.A324A	DOCK8_ENST00000469391.1_Silent_p.A256A|DOCK8_ENST00000432829.2_Silent_p.A256A			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	324					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTTCAGTGGCCGCATCAAGTC	0.473																																																	0													115.0	100.0	105.0					9																	328099		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.972C>T	9.37:g.328099C>T			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.A324	ENST00000453981.1	37	c.972	CCDS6440.2	9																																																																																			DOCK8	-	NULL	ENSG00000107099		0.473	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	-	0.00	49	0	C	XM_036307		328099	+1	tier1	-	no_errors	ENST00000453981	ensembl	human	known	74_37	silent	15.52	49	9	SNP	0.014	T
DOPEY2	9980	genome.wustl.edu	37	21	37618129	37618129	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:37618129G>A	ENST00000399151.3	+	19	3936	c.3851G>A	c.(3850-3852)cGc>cAc	p.R1284H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1284					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCTCGCTCGCCACCAGGAG	0.587																																																	0													64.0	66.0	65.0					21																	37618129		2203	4300	6503	SO:0001583	missense	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3851G>A	21.37:g.37618129G>A	ENSP00000382104:p.Arg1284His		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.R1284H	ENST00000399151.3	37	c.3851	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592301	0.86953	.	.	ENSG00000142197	ENST00000399151	T	0.51325	0.71	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79072	-0.1953	10	0.87932	D	0	-15.3905	17.8467	0.88732	0.0:0.0:1.0:0.0	.	1284;1284	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	H	1284	ENSP00000382104:R1284H	ENSP00000382104:R1284H	R	+	2	0	DOPEY2	36539999	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	9.222000	0.95196	2.295000	0.77249	0.655000	0.94253	CGC	DOPEY2	-	NULL	ENSG00000142197		0.587	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	-	0.00	41	0	G	NM_005128		37618129	+1	tier1	-	no_errors	ENST00000399151	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	A
DOPEY2	9980	genome.wustl.edu	37	21	37661367	37661367	+	Silent	SNP	G	G	A	rs148971960		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:37661367G>A	ENST00000399151.3	+	35	6463	c.6378G>A	c.(6376-6378)acG>acA	p.T2126T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2126					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TAAACAGAACGAAAGTTTCAG	0.418																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	99.0	99.0	99.0		6378	-11.0	0.0	21	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	DOPEY2	NM_005128.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2126/2299	37661367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6378G>A	21.37:g.37661367G>A			D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	pfam_Dopey_N	p.T2126	ENST00000399151.3	37	c.6378	CCDS13643.1	21																																																																																			DOPEY2	-	NULL	ENSG00000142197		0.418	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	-	0.00	42	0	G	NM_005128		37661367	+1	tier1	rs148971960	no_errors	ENST00000399151	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.000	A
DPCR1	135656	genome.wustl.edu	37	6	30917619	30917619	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:30917619C>T	ENST00000462446.1	+	2	1406	c.1378C>T	c.(1378-1380)Cct>Tct	p.P460S	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	352						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCCAGCAGGGCCTACAGAAAA	0.512																																																	0													297.0	357.0	339.0					6																	30917619		692	1591	2283	SO:0001583	missense	0			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1378C>T	6.37:g.30917619C>T	ENSP00000417182:p.Pro460Ser		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.P460S	ENST00000462446.1	37	c.1378	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	0.016	-1.519179	0.00967	.	.	ENSG00000168631	ENST00000462446	T	0.54071	0.59	0.701	0.701	0.18104	.	.	.	.	.	T	0.23649	0.0572	M	0.70275	2.135	0.41774	D	0.989781	P	0.44659	0.84	B	0.32980	0.156	T	0.15321	-1.0441	9	0.18276	T	0.48	.	7.4735	0.27363	0.0:1.0:0.0:0.0	.	460	E9PEI6	.	S	460	ENSP00000417182:P460S	ENSP00000417182:P460S	P	+	1	0	DPCR1	31025598	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-3.321000	0.00513	0.741000	0.32674	0.423000	0.28283	CCT	DPCR1	-	NULL	ENSG00000168631		0.512	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	-	0.00	76	0	C	NM_080870		30917619	+1	tier1	-	no_errors	ENST00000462446	ensembl	human	novel	74_37	missense	14.46	71	12	SNP	0.012	T
DPF3	8110	genome.wustl.edu	37	14	73137370	73137370	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:73137370delA	ENST00000556509.1	-	8	871				DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_3'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		tctctctcGCAAAAAAAGTCT	0.383																																																	0																																										SO:0001627	intron_variant	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+3577T>-	14.37:g.73137370delA			A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	RNA	DEL	-	NULL	ENST00000556509.1	37	NULL		14																																																																																			DPF3	-	-	ENSG00000205683		0.383	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2		0.00	65	0	A			73137370	-1	tier1		no_errors	ENST00000557704	ensembl	human	known	74_37	rna	19.72	57	14	DEL	0.953	-
DPF3	8110	genome.wustl.edu	37	14	73137761	73137762	+	Intron	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:73137761_73137762insA	ENST00000556509.1	-	8	871				DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_3'UTR|DPF3_ENST00000541685.1_3'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGCCTTTCATTAAAAAAAATAT	0.46																																																	0																																										SO:0001627	intron_variant	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+3185->T	14.37:g.73137769_73137769dupA			A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	RNA	INS	-	NULL	ENST00000556509.1	37	NULL		14																																																																																			DPF3	-	-	ENSG00000205683		0.460	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2		0.00	37	0	-			73137762	-1	tier1		no_errors	ENST00000557704	ensembl	human	known	74_37	rna	16.13	26	5	INS	0.991:0.001	A
DPF3	8110	genome.wustl.edu	37	14	73159862	73159862	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:73159862G>T	ENST00000556509.1	-	7	663	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.L232M|DPF3_ENST00000541685.1_Missense_Mutation_p.L222M	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	222					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCGCTGGCCAGGTGAGTGTGA	0.527																																																	0													137.0	142.0	141.0					14																	73159862		2067	4215	6282	SO:0001583	missense	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.664C>A	14.37:g.73159862G>T	ENSP00000450518:p.Leu222Met		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L277M	ENST00000556509.1	37	c.829		14	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544118	0.86022	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91068	-2.78;-0.23;-0.24	5.49	4.59	0.56863	Zinc finger, C2H2 (1);	.	.	.	.	D	0.94627	0.8268	M	0.77486	2.375	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.995	D;D;D	0.72338	0.977;0.977;0.969	D	0.94902	0.8057	9	0.87932	D	0	.	13.6886	0.62531	0.0739:0.0:0.9261:0.0	.	232;222;222	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	M	222;221;222;232	ENSP00000450518:L222M;ENSP00000441640:L222M;ENSP00000444662:L232M	ENSP00000381791:L277M	L	-	1	2	DPF3	72229615	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.329000	0.72920	2.573000	0.86826	0.561000	0.74099	CTG	DPF3	-	pfscan_Znf_C2H2	ENSG00000205683		0.527	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	-	0.00	129	0	G			73159862	-1	tier1	-	no_errors	ENST00000366353	ensembl	human	known	74_37	missense	18.58	92	21	SNP	1.000	T
DPYD	1806	genome.wustl.edu	37	1	98060679	98060679	+	Silent	SNP	C	C	T	rs61758443		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:98060679C>T	ENST00000370192.3	-	9	994	c.894G>A	c.(892-894)acG>acA	p.T298T		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	298					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CCTGGTCCTGCGTCAGGCCTT	0.388																																																	0													88.0	91.0	90.0					1																	98060679		2203	4300	6503	SO:0001819	synonymous_variant	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.894G>A	1.37:g.98060679C>T			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.T298	ENST00000370192.3	37	c.894	CCDS30777.1	1																																																																																			DPYD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000188641		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	-	0.00	46	0	C	NM_000110		98060679	-1	tier1	rs61758443	no_errors	ENST00000370192	ensembl	human	known	74_37	silent	14.29	48	8	SNP	0.000	T
DPYSL4	10570	genome.wustl.edu	37	10	134013961	134013961	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:134013961delC	ENST00000338492.4	+	9	1077	c.913delC	c.(913-915)cccfs	p.P306fs	DPYSL4_ENST00000368629.1_Frame_Shift_Del_p.P206fs|DPYSL4_ENST00000368627.1_Frame_Shift_Del_p.P206fs	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	306					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGTCACATCACCCCCTGTCAA	0.662																																																	0													130.0	114.0	119.0					10																	134013961		2203	4300	6503	SO:0001589	frameshift_variant	0			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.913delC	10.37:g.134013961delC	ENSP00000339850:p.Pro306fs		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Frame_Shift_Del	DEL	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.P306fs	ENST00000338492.4	37	c.913	CCDS7665.1	10																																																																																			DPYSL4	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000151640		0.662	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL4	HGNC	protein_coding	OTTHUMT00000051050.2		0.00	76	0	C			134013961	+1	tier1		no_errors	ENST00000338492	ensembl	human	known	74_37	frame_shift_del	19.74	61	15	DEL	1.000	-
DRD1	1812	genome.wustl.edu	37	5	174869161	174869161	+	Silent	SNP	G	G	A	rs373400500		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:174869161G>A	ENST00000393752.2	-	2	1934	c.942C>T	c.(940-942)gaC>gaT	p.D314D		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	314					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACACAAACACGTCAAAGGTGT	0.463																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	80.0	80.0	80.0		942	-10.6	0.0	5		80	0,8600		0,0,4300	no	coding-synonymous	DRD1	NM_000794.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		314/447	174869161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.942C>T	5.37:g.174869161G>A			B2RA44|Q4QRJ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam	p.D314	ENST00000393752.2	37	c.942	CCDS4393.1	5																																																																																			DRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	ENSG00000184845		0.463	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2	-	0.00	30	0	G	NM_000794		174869161	-1	tier1	-	no_errors	ENST00000393752	ensembl	human	known	74_37	silent	40.00	15	10	SNP	0.059	A
DRGX	644168	genome.wustl.edu	37	10	50594790	50594790	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:50594790T>A	ENST00000374139.2	-	4	359	c.349A>T	c.(349-351)Atc>Ttc	p.I117F	DRGX_ENST00000434016.1_Missense_Mutation_p.I122F			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	117					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GGGGAGTTGATGTTTCTCACT	0.647																																																	0													112.0	124.0	121.0					10																	50594790		2021	4171	6192	SO:0001583	missense	0				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.349A>T	10.37:g.50594790T>A	ENSP00000363254:p.Ile117Phe			Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.I122F	ENST00000374139.2	37	c.364		10	.	.	.	.	.	.	.	.	.	.	T	11.05	1.523871	0.27299	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.91351	-2.83;-2.76	5.42	3.06	0.35304	.	0.171320	0.49916	D	0.000140	T	0.77377	0.4121	N	0.19112	0.55	0.46542	D	0.999099	B	0.18741	0.03	B	0.20577	0.03	T	0.60979	-0.7155	10	0.09590	T	0.72	.	2.0897	0.03654	0.1764:0.0792:0.2455:0.4989	.	122	C9JW76	.	F	117;122	ENSP00000363254:I117F;ENSP00000401653:I122F	ENSP00000363254:I117F	I	-	1	0	DRGX	50264796	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	0.666000	0.25097	0.357000	0.24183	0.533000	0.62120	ATC	DRGX	-	NULL	ENSG00000165606		0.647	DRGX-001	KNOWN	basic|appris_principal	protein_coding	DRGX	HGNC	protein_coding	OTTHUMT00000047987.2	-	0.00	86	0	T	XM_060970		50594790	-1	tier1	-	no_errors	ENST00000434016	ensembl	human	known	74_37	missense	32.84	45	22	SNP	1.000	A
DSC3	1825	genome.wustl.edu	37	18	28605749	28605749	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:28605749G>A	ENST00000360428.4	-	5	687	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	DSC3_ENST00000434452.1_Missense_Mutation_p.R203C	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	203	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.R203C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TATTCTTCACGATCCACAGGC	0.338																																																	2	Substitution - Missense(2)	large_intestine(1)|skin(1)											74.0	75.0	74.0					18																	28605749		2203	4299	6502	SO:0001583	missense	0			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.607C>T	18.37:g.28605749G>A	ENSP00000353608:p.Arg203Cys		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.R203C	ENST00000360428.4	37	c.607	CCDS32810.1	18	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674758	0.88445	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.59772	0.24;0.24	5.2	5.2	0.72013	Cadherin (5);Cadherin-like (1);	0.000000	0.33712	N	0.004626	D	0.84982	0.5593	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89852	0.4010	10	0.87932	D	0	.	18.0367	0.89305	0.0:0.0:1.0:0.0	.	203;203	Q14574;Q14574-2	DSC3_HUMAN;.	C	203	ENSP00000353608:R203C;ENSP00000392068:R203C	ENSP00000353608:R203C	R	-	1	0	DSC3	26859747	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.479000	0.66813	2.854000	0.98071	0.655000	0.94253	CGT	DSC3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000134762		0.338	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	HGNC	protein_coding	OTTHUMT00000447384.1	-	0.00	44	0	G	NM_001941, NM_024423		28605749	-1	tier1	-	no_errors	ENST00000360428	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	A
DSN1	79980	genome.wustl.edu	37	20	35399448	35399448	+	Frame_Shift_Del	DEL	T	T	-	rs35111724		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:35399448delT	ENST00000426836.1	-	3	555	c.183delA	c.(181-183)aaafs	p.K61fs	DSN1_ENST00000448110.2_Frame_Shift_Del_p.K45fs|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373750.4_Frame_Shift_Del_p.K61fs|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373745.3_Frame_Shift_Del_p.K61fs|DSN1_ENST00000373734.4_Intron	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	61					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				AATTTCCCCCTTTTTTAGGGC	0.463																																																	0													142.0	142.0	142.0					20																	35399448		2203	4300	6503	SO:0001589	frameshift_variant	0			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.183delA	20.37:g.35399448delT	ENSP00000389810:p.Lys61fs		B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Frame_Shift_Del	DEL	pfam_Dsn1/Mis13	p.G63fs	ENST00000426836.1	37	c.183	CCDS13286.1	20																																																																																			DSN1	-	NULL	ENSG00000149636		0.463	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSN1	HGNC	protein_coding	OTTHUMT00000079043.2		0.00	61	0	T	NM_024918		35399448	-1	tier1		no_errors	ENST00000373745	ensembl	human	known	74_37	frame_shift_del	24.53	40	13	DEL	0.000	-
DSP	1832	genome.wustl.edu	37	6	7574376	7574376	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:7574376C>A	ENST00000379802.3	+	16	2529	c.2188C>A	c.(2188-2190)Ctt>Att	p.L730I	DSP_ENST00000418664.2_Missense_Mutation_p.L730I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	730	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAAAGATATGCTTGCCAACTT	0.363																																																	0													84.0	80.0	82.0					6																	7574376		2203	4300	6503	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2188C>A	6.37:g.7574376C>A	ENSP00000369129:p.Leu730Ile		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.L730I	ENST00000379802.3	37	c.2188	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533912	0.45073	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.74737	-0.87;-0.87	5.51	4.53	0.55603	.	0.000000	0.46758	D	0.000266	T	0.38321	0.1036	N	0.12182	0.205	0.34432	D	0.698612	B;B	0.24043	0.096;0.096	B;B	0.18263	0.012;0.021	T	0.41680	-0.9495	10	0.52906	T	0.07	.	7.7554	0.28921	0.1625:0.7308:0.0:0.1067	.	777;730	Q4LE79;P15924	.;DESP_HUMAN	I	730;730;535	ENSP00000369129:L730I;ENSP00000396591:L730I	ENSP00000369129:L730I	L	+	1	0	DSP	7519375	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.273000	0.33121	2.593000	0.87608	0.655000	0.94253	CTT	DSP	-	NULL	ENSG00000096696		0.363	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	-	0.00	45	0	C	NM_004415		7574376	+1	tier1	-	no_errors	ENST00000379802	ensembl	human	known	74_37	missense	36.36	28	16	SNP	0.998	A
DTHD1	401124	genome.wustl.edu	37	4	36345167	36345167	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:36345167C>A	ENST00000456874.2	+	9	2125	c.2067C>A	c.(2065-2067)ctC>ctA	p.L689L	DTHD1_ENST00000507598.1_Silent_p.L729L|RP11-431M7.2_ENST00000504344.1_RNA|DTHD1_ENST00000357504.3_Silent_p.L524L|DTHD1_ENST00000503528.1_3'UTR	NM_001170700.2	NP_001164171.1	Q6ZMT9	DTHD1_HUMAN	death domain containing 1	689	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)					breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|stomach(1)	8						CTGAGGAGCTCTCAGAAGAAA	0.527																																																	0													90.0	84.0	86.0					4																	36345167		692	1591	2283	SO:0001819	synonymous_variant	0			AK094684	CCDS54754.1	4p14	2009-10-02			ENSG00000197057	ENSG00000197057			37261	protein-coding gene	gene with protein product							Standard	NM_001170700		Approved	FLJ16686	uc021xne.2	Q6ZMT9	OTTHUMG00000160371	ENST00000456874.2:c.2067C>A	4.37:g.36345167C>A			B2RXK4|B4E2N7	Silent	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain	p.L689	ENST00000456874.2	37	c.2067	CCDS54754.1	4																																																																																			DTHD1	-	pfam_Death_domain,superfamily_DEATH-like_dom	ENSG00000197057		0.527	DTHD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DTHD1	HGNC	protein_coding			0.00	23	0	C	NM_001136536		36345167	+1			no_errors	ENST00000456874	ensembl	human	known	74_37	silent	17.50	33	7	SNP	0.939	A
DTWD1	56986	genome.wustl.edu	37	15	49935658	49935658	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:49935658A>G	ENST00000251250.6	+	6	1005	c.798A>G	c.(796-798)ttA>ttG	p.L266L	DTWD1_ENST00000415425.1_Silent_p.L179L|DTWD1_ENST00000403028.3_Silent_p.L266L|DTWD1_ENST00000558653.1_Silent_p.L266L	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	266										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		CTGATATATTAAAAGAGAAAT	0.338																																																	0													62.0	68.0	66.0					15																	49935658		2195	4290	6485	SO:0001819	synonymous_variant	0			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.798A>G	15.37:g.49935658A>G			Q567Q3|Q8WVG9|Q9NRU6	Silent	SNP	pfam_DTW	p.L266	ENST00000251250.6	37	c.798	CCDS10132.1	15																																																																																			DTWD1	-	pfam_DTW	ENSG00000104047		0.338	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	HGNC	protein_coding	OTTHUMT00000254431.2		0.00	50	0	A	NM_020234		49935658	+1			no_errors	ENST00000251250	ensembl	human	known	74_37	silent	6.98	40	3	SNP	0.988	G
DUSP10	11221	genome.wustl.edu	37	1	221875662	221875662	+	3'UTR	DEL	A	A	-	rs3215279		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:221875662delA	ENST00000366899.3	-	0	1779				DUSP10_ENST00000323825.3_3'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCCCAACTACAAAAAAAAAAA	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*92T>-	1.37:g.221875662delA			D3DTB4|Q6GSI4|Q9H9Z5	RNA	DEL	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-	ENSG00000143507		0.348	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0.00	25	0	A	NM_007207		221875662	-1	tier1		no_errors	ENST00000468085	ensembl	human	known	74_37	rna	50.00	11	11	DEL	0.040	-
DUSP9	1852	genome.wustl.edu	37	X	152915674	152915674	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:152915674delG	ENST00000342782.3	+	4	1334	c.1069delG	c.(1069-1071)gggfs	p.G358fs	DUSP9_ENST00000370167.4_Frame_Shift_Del_p.G358fs			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	358	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGCAGTGGGGGGCAGGC	0.662																																																	0													83.0	74.0	77.0					X																	152915674		2203	4300	6503	SO:0001589	frameshift_variant	0			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.1069delG	X.37:g.152915674delG	ENSP00000345853:p.Gly358fs		D3DWU5	Frame_Shift_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.Q359fs	ENST00000342782.3	37	c.1069	CCDS14724.1	X																																																																																			DUSP9	-	pirsf_MKP	ENSG00000130829		0.662	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUSP9	HGNC	protein_coding	OTTHUMT00000061022.3		0.00	60	0	G	NM_001395		152915674	+1	tier1		no_errors	ENST00000342782	ensembl	human	known	74_37	frame_shift_del	19.35	50	12	DEL	0.150	-
DYM	54808	genome.wustl.edu	37	18	46690133	46690133	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:46690133delT	ENST00000269445.6	-	14	1942	c.1485delA	c.(1483-1485)aaafs	p.K495fs	DYM_ENST00000442713.2_Frame_Shift_Del_p.K305fs	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	495					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CTTTGTTGTGTTTTTTAGACA	0.333																																																	0													83.0	72.0	76.0					18																	46690133		2203	4300	6503	SO:0001589	frameshift_variant	0			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1485delA	18.37:g.46690133delT	ENSP00000269445:p.Lys495fs		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Frame_Shift_Del	DEL	pfam_Dymeclin,superfamily_ARM-type_fold	p.K495fs	ENST00000269445.6	37	c.1485	CCDS11937.1	18																																																																																			DYM	-	pfam_Dymeclin,superfamily_ARM-type_fold	ENSG00000141627		0.333	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3		0.00	48	0	T	NM_017653		46690133	-1	tier1		no_errors	ENST00000269445	ensembl	human	known	74_37	frame_shift_del	10.64	42	5	DEL	0.906	-
DYNC1I2	1781	genome.wustl.edu	37	2	172546762	172546762	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:172546762delA	ENST00000397119.3	+	2	264	c.97delA	c.(97-99)aaafs	p.K35fs	DYNC1I2_ENST00000410079.3_Frame_Shift_Del_p.K35fs|DYNC1I2_ENST00000534253.2_Frame_Shift_Del_p.K35fs|DYNC1I2_ENST00000409197.1_Frame_Shift_Del_p.K35fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Del_p.K35fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Del_p.K35fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Del_p.K35fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Del_p.K35fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Del_p.K35fs|DYNC1I2_ENST00000508530.1_Frame_Shift_Del_p.K35fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Del_p.K35fs	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	35					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			agaagaaaggaaaaaaaaaga	0.308																																																	0													20.0	17.0	18.0					2																	172546762		1726	3909	5635	SO:0001589	frameshift_variant	0			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.97delA	2.37:g.172546762delA	ENSP00000380308:p.Lys35fs		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Frame_Shift_Del	DEL	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E36fs	ENST00000397119.3	37	c.97	CCDS46450.1	2																																																																																			DYNC1I2	-	NULL	ENSG00000077380		0.308	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2		0.00	47	0	A	NM_001378		172546762	+1	tier1		no_errors	ENST00000397119	ensembl	human	known	74_37	frame_shift_del	22.08	60	17	DEL	1.000	-
DYRK1B	9149	genome.wustl.edu	37	19	40317456	40317456	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:40317456delG	ENST00000593685.1	-	9	1735	c.1267delC	c.(1267-1269)ctgfs	p.L423fs	DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.L383fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.L423fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.L395fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.L395fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	423	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGAGCCCCCAGGGGGCTGATG	0.751																																																	0													4.0	6.0	5.0					19																	40317456		1977	3877	5854	SO:0001589	frameshift_variant	0			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1267delC	19.37:g.40317456delG	ENSP00000469863:p.Leu423fs		O75258|O75788|O75789	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L423fs	ENST00000593685.1	37	c.1267	CCDS12543.1	19																																																																																			DYRK1B	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000105204		0.751	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYRK1B	HGNC	protein_coding	OTTHUMT00000462874.2		0.00	50	0	G	NM_004714		40317456	-1	tier1		no_errors	ENST00000323039	ensembl	human	known	74_37	frame_shift_del	15.15	28	5	DEL	0.864	-
DYSF	8291	genome.wustl.edu	37	2	71681137	71681137	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:71681137G>A	ENST00000258104.3	+	1	286	c.9G>A	c.(7-9)agG>agA	p.R3R	DYSF_ENST00000409762.1_Silent_p.R3R|DYSF_ENST00000413539.2_Silent_p.R3R|DYSF_ENST00000409582.3_Silent_p.R3R|DYSF_ENST00000429174.2_Silent_p.R3R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	3	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCATGCTGAGGGTCTTCATCC	0.667																																																	0													62.0	51.0	55.0					2																	71681137		2203	4300	6503	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.9G>A	2.37:g.71681137G>A			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.R3	ENST00000258104.3	37	c.9	CCDS1918.1	2																																																																																			DYSF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000135636		0.667	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0.00	94	0	G	NM_003494		71681137	+1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	6.19	91	6	SNP	1.000	A
E2F2	1870	genome.wustl.edu	37	1	23845519	23845519	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:23845519C>T	ENST00000361729.2	-	5	1267	c.841G>A	c.(841-843)Gac>Aac	p.D281N	E2F2_ENST00000487237.1_5'UTR	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	281	Dimerization. {ECO:0000255}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		TCAGTCCTGTCGGGCACTTCC	0.582																																																	0													78.0	68.0	72.0					1																	23845519		2203	4300	6503	SO:0001583	missense	0			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.841G>A	1.37:g.23845519C>T	ENSP00000355249:p.Asp281Asn		B2R9W1|Q7Z6H1	Missense_Mutation	SNP	pfam_E2F_TDP	p.D281N	ENST00000361729.2	37	c.841	CCDS236.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040368	0.93630	.	.	ENSG00000007968	ENST00000361729	D	0.85556	-2.0	6.07	6.07	0.98685	.	0.301725	0.34725	N	0.003734	D	0.91365	0.7276	M	0.69823	2.125	0.50813	D	0.999893	D	0.76494	0.999	P	0.61275	0.886	D	0.91219	0.5005	10	0.66056	D	0.02	-17.8311	19.2232	0.93806	0.0:1.0:0.0:0.0	.	281	Q14209	E2F2_HUMAN	N	281	ENSP00000355249:D281N	ENSP00000355249:D281N	D	-	1	0	E2F2	23718106	1.000000	0.71417	0.601000	0.28877	0.689000	0.40095	7.767000	0.85331	2.885000	0.99019	0.650000	0.86243	GAC	E2F2	-	NULL	ENSG00000007968		0.582	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F2	HGNC	protein_coding	OTTHUMT00000008885.1	-	0.00	34	0	C	NM_004091		23845519	-1	tier1	-	no_errors	ENST00000361729	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.998	T
EAPP	55837	genome.wustl.edu	37	14	35008585	35008585	+	Intron	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:35008585delC	ENST00000250454.3	-	1	156				RP11-671J11.7_ENST00000553697.1_RNA	NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein						negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GGCACCGCCTCCCCCCGGGAC	0.592																																																	0																																										SO:0001627	intron_variant	0			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.74+175G>-	14.37:g.35008585delC			Q9BVF4|Q9NWV5|Q9NZ86	Frame_Shift_Del	DEL	NULL	p.E84fs	ENST00000250454.3	37	c.250	CCDS41941.1	14																																																																																			EAPP	-	NULL	ENSG00000129518		0.592	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAPP	HGNC	protein_coding	OTTHUMT00000409847.1		0.00	25	0	C	NM_018453		35008585	-1	tier1		no_errors	ENST00000555705	ensembl	human	known	74_37	frame_shift_del	21.62	29	8	DEL	0.044	-
EBF1	1879	genome.wustl.edu	37	5	158204526	158204526	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:158204526G>A	ENST00000313708.6	-	10	1213	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	EBF1_ENST00000517373.1_Missense_Mutation_p.R303C|EBF1_ENST00000380654.4_Missense_Mutation_p.R280C|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	311	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCTGCACACGGATGGCATGA	0.458			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													132.0	123.0	126.0					5																	158204526		2203	4300	6503	SO:0001583	missense	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.931C>T	5.37:g.158204526G>A	ENSP00000322898:p.Arg311Cys		Q8IW11	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.R311C	ENST00000313708.6	37	c.931	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332525	0.81801	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.77358	-1.09;-1.09;-1.09	5.72	5.72	0.89469	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.977;0.995;0.993;0.992	D	0.88876	0.3336	10	0.87932	D	0	-2.9184	15.4945	0.75637	0.0:0.0:0.8611:0.1389	.	311;298;311;280	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	C	311;311;280;303	ENSP00000322898:R311C;ENSP00000370029:R280C;ENSP00000428020:R303C	ENSP00000322898:R311C	R	-	1	0	EBF1	158137104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.603000	0.61105	2.691000	0.91804	0.655000	0.94253	CGT	EBF1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000164330		0.458	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	-	0.00	32	0	G	NM_024007		158204526	-1	tier1	-	no_errors	ENST00000313708	ensembl	human	known	74_37	missense	37.50	30	18	SNP	1.000	A
EEF2K	29904	genome.wustl.edu	37	16	22262606	22262606	+	Frame_Shift_Del	DEL	G	G	-	rs139820091		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:22262606delG	ENST00000263026.5	+	6	1055	c.581delG	c.(580-582)tggfs	p.W194fs		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	194	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GCCAAGCTCTGGGGGGAGGAG	0.617																																					NSCLC(195;1411 2157 20319 27471 51856)												0													68.0	62.0	64.0					16																	22262606		2197	4300	6497	SO:0001589	frameshift_variant	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.581delG	16.37:g.22262606delG	ENSP00000263026:p.Trp194fs		Q8N588	Frame_Shift_Del	DEL	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.E196fs	ENST00000263026.5	37	c.581	CCDS10604.1	16																																																																																			EEF2K	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000103319		0.617	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2		0.00	30	0	G	NM_013302		22262606	+1	tier1		no_errors	ENST00000263026	ensembl	human	known	74_37	frame_shift_del	10.71	25	3	DEL	1.000	-
EFCAB13	124989	genome.wustl.edu	37	17	45473323	45473323	+	Missense_Mutation	SNP	T	T	C	rs555824646		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:45473323T>C	ENST00000331493.2	+	17	2336	c.1925T>C	c.(1924-1926)tTg>tCg	p.L642S	EFCAB13_ENST00000517484.1_Missense_Mutation_p.L546S	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	642	EF-hand 3.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										CTAGCTGCATTGGAACTAGTG	0.338													t|||	1	0.000199681	0.0	0.0014	5008	,	,		15816	0.0		0.0	False		,,,				2504	0.0																0													96.0	104.0	101.0					17																	45473323		2203	4300	6503	SO:0001583	missense	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1925T>C	17.37:g.45473323T>C	ENSP00000332111:p.Leu642Ser		G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.L642S	ENST00000331493.2	37	c.1925	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	t	10.51	1.370201	0.24771	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000523842	T;T;T	0.52983	0.64;0.64;0.64	3.81	3.81	0.43845	EF-hand-like domain (1);	0.160399	0.29417	N	0.012220	T	0.59155	0.2173	L	0.54323	1.7	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.71656	0.974;0.965	T	0.49082	-0.8976	10	0.87932	D	0	-1.258	9.256	0.37584	0.0:0.0:0.0:1.0	.	642;546	Q8IY85;G3V128	CQ057_HUMAN;.	S	642;546;168	ENSP00000332111:L642S;ENSP00000430048:L546S;ENSP00000429566:L168S	ENSP00000332111:L642S	L	+	2	0	C17orf57	42828322	0.026000	0.19158	0.009000	0.14445	0.005000	0.04900	2.567000	0.45956	1.937000	0.56155	0.478000	0.44815	TTG	EFCAB13	-	NULL	ENSG00000178852		0.338	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	-	0.00	45	0	T	NM_152347		45473323	+1	tier1	-	no_errors	ENST00000331493	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.012	C
EFEMP2	30008	genome.wustl.edu	37	11	65638861	65638861	+	Intron	SNP	G	G	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:65638861G>C	ENST00000307998.6	-	4	391				EFEMP2_ENST00000528176.1_Intron	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2						blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCTGGGCACAGCCAGTCTCCT	0.622																																																	0													43.0	49.0	47.0					11																	65638861		2201	4296	6497	SO:0001627	intron_variant	0			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.161-27C>G	11.37:g.65638861G>C			A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	NULL	p.G60	ENST00000307998.6	37	c.180	CCDS8116.1	11																																																																																			EFEMP2	-	NULL	ENSG00000172638		0.622	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP2	HGNC	protein_coding	OTTHUMT00000391047.4	-	0.00	45	0	G	NM_016938		65638861	-1	tier1	-	no_errors	ENST00000533347	ensembl	human	known	74_37	silent	23.08	50	15	SNP	1.000	C
EFNB3	1949	genome.wustl.edu	37	17	7608923	7608923	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7608923delC	ENST00000226091.2	+	1	404	c.7delC	c.(7-9)cccfs	p.P4fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	4					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGTCATGGGGCCCCCCCATTC	0.726																																																	0													8.0	11.0	10.0					17																	7608923		2119	4208	6327	SO:0001589	frameshift_variant	0			U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.7delC	17.37:g.7608923delC	ENSP00000226091:p.Pro4fs		B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Del	DEL	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.H5fs	ENST00000226091.2	37	c.7	CCDS11120.1	17																																																																																			EFNB3	-	NULL	ENSG00000108947		0.726	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB3	HGNC	protein_coding	OTTHUMT00000226965.1		0.00	79	0	C	NM_001406		7608923	+1	tier1		no_errors	ENST00000226091	ensembl	human	known	74_37	frame_shift_del	21.62	58	16	DEL	0.965	-
EGFLAM	133584	genome.wustl.edu	37	5	38464038	38464038	+	Missense_Mutation	SNP	G	G	A	rs372253494		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:38464038G>A	ENST00000354891.3	+	23	3350	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	EGFLAM_ENST00000336740.6_Missense_Mutation_p.V760M|EGFLAM_ENST00000514476.1_Missense_Mutation_p.V137M|EGFLAM_ENST00000397210.3_Missense_Mutation_p.V137M|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000322350.5_Missense_Mutation_p.V994M|EGFLAM_ENST00000506135.1_Missense_Mutation_p.V137M|EGFLAM_ENST00000397202.2_Missense_Mutation_p.V360M|CTD-2263F21.1_ENST00000510137.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1002	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATTTCCCTCGTGGAAGATGC	0.493																																					Colon(62;485 1295 3347 17454)												0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	140.0	108.0	119.0		3004,2980,2278,409	5.9	1.0	5		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2,NM_182801.2	21,21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1002/1018,994/1010,760/776,137/153	38464038	1,13005	2203	4300	6503	SO:0001583	missense	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.3004G>A	5.37:g.38464038G>A	ENSP00000346964:p.Val1002Met		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.V1002M	ENST00000354891.3	37	c.3004	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550865	0.86127	0.0	1.16E-4	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000514476	T;T;T;D;T;T;T	0.83837	0.75;0.57;-1.35;-1.77;-0.06;-0.06;-0.06	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.87216	0.6122	L	0.31752	0.955	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.943	D;D;D;P	0.76071	0.955;0.987;0.98;0.572	D	0.86202	0.1619	10	0.44086	T	0.13	-2.7359	20.3539	0.98825	0.0:0.0:1.0:0.0	.	360;760;1002;994	Q63HQ2-3;Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;.;EGFLA_HUMAN;.	M	1002;994;760;360;760;137;137;137	ENSP00000346964:V1002M;ENSP00000313084:V994M;ENSP00000337607:V760M;ENSP00000380385:V360M;ENSP00000380393:V137M;ENSP00000425579:V137M;ENSP00000423228:V137M	ENSP00000313084:V994M	V	+	1	0	EGFLAM	38499795	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.290000	0.78711	2.826000	0.97356	0.655000	0.94253	GTG	EGFLAM	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000164318		0.493	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	-	0.00	40	0	G	NM_152403		38464038	+1	tier1	-	no_errors	ENST00000354891	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	A
EGFR	1956	genome.wustl.edu	37	7	55224336	55224336	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:55224336C>T	ENST00000275493.2	+	9	1294	c.1117C>T	c.(1117-1119)Ccg>Tcg	p.P373S	EGFR_ENST00000420316.2_Missense_Mutation_p.P373S|EGFR_ENST00000454757.2_Missense_Mutation_p.P320S|EGFR_ENST00000342916.3_Missense_Mutation_p.P373S|EGFR_ENST00000442591.1_Missense_Mutation_p.P373S|EGFR_ENST00000344576.2_Missense_Mutation_p.P373S|EGFR_ENST00000455089.1_Missense_Mutation_p.P328S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	373					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCACATCCTGCCGGTGGCATT	0.403		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													80.0	83.0	82.0					7																	55224336		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1117C>T	7.37:g.55224336C>T	ENSP00000275493:p.Pro373Ser		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P373S	ENST00000275493.2	37	c.1117	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	2.986	-0.209255	0.06140	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.95	5.95	0.96441	EGF receptor, L domain (1);	0.210787	0.51477	D	0.000084	T	0.22003	0.0530	N	0.17474	0.49	0.37126	D	0.901044	B;B;P;P;P	0.41978	0.05;0.385;0.747;0.767;0.495	B;B;B;B;B	0.32583	0.035;0.101;0.123;0.148;0.099	T	0.18461	-1.0336	10	0.08837	T	0.75	.	13.8634	0.63574	0.1526:0.8474:0.0:0.0	.	328;373;373;373;373	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	S	328;373;243;373;373;373;373;320;167	ENSP00000415559:P328S;ENSP00000342376:P373S;ENSP00000345973:P373S;ENSP00000413843:P373S;ENSP00000275493:P373S;ENSP00000410031:P373S;ENSP00000395243:P320S	ENSP00000275493:P373S	P	+	1	0	EGFR	55191830	0.793000	0.28825	0.994000	0.49952	0.790000	0.44656	2.130000	0.42064	2.825000	0.97269	0.655000	0.94253	CCG	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000146648		0.403	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	-	0.00	47	0	C	NM_005228		55224336	+1	tier1	-	no_errors	ENST00000275493	ensembl	human	known	74_37	missense	28.81	42	17	SNP	0.893	T
EGLN2	112398	genome.wustl.edu	37	19	41306746	41306746	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:41306746C>T	ENST00000593726.1	+	1	1297	c.269C>T	c.(268-270)cCg>cTg	p.P90L	EGLN2_ENST00000594140.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000303961.4_Missense_Mutation_p.P90L|EGLN2_ENST00000406058.2_Missense_Mutation_p.P90L			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	90	Bipartite nuclear localization signal.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GAGCTGCGGCCGCTGCAGAGT	0.692																																																	0													18.0	20.0	19.0					19																	41306746		2202	4297	6499	SO:0001583	missense	0			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.269C>T	19.37:g.41306746C>T	ENSP00000469686:p.Pro90Leu		A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.P90L	ENST00000593726.1	37	c.269	CCDS12567.1	19	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695379	0.48202	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.23950	1.88;1.88	4.56	4.56	0.56223	.	0.200785	0.32719	N	0.005723	T	0.14399	0.0348	N	0.19112	0.55	0.46586	D	0.999117	B	0.15930	0.015	B	0.10450	0.005	T	0.08994	-1.0695	10	0.11485	T	0.65	-9.0427	10.2261	0.43227	0.0:0.9058:0.0:0.0942	.	90	Q96KS0	EGLN2_HUMAN	L	90	ENSP00000307080:P90L;ENSP00000385253:P90L	ENSP00000307080:P90L	P	+	2	0	EGLN2	45998586	0.003000	0.15002	0.959000	0.39883	0.978000	0.69477	0.580000	0.23803	2.250000	0.74265	0.491000	0.48974	CCG	EGLN2	-	NULL	ENSG00000269858		0.692	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EGLN2	HGNC	protein_coding	OTTHUMT00000463218.1		0.00	45	0	C			41306746	+1			no_errors	ENST00000303961	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.992	T
EGR1	1958	genome.wustl.edu	37	5	137802682	137802682	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:137802682G>A	ENST00000239938.4	+	2	816	c.544G>A	c.(544-546)Gcc>Acc	p.A182T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	182					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A182T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCTCCTCCGCCTCCGCCTC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											111.0	114.0	113.0					5																	137802682		2203	4300	6503	SO:0001583	missense	0			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.544G>A	5.37:g.137802682G>A	ENSP00000239938:p.Ala182Thr			Missense_Mutation	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A182T	ENST00000239938.4	37	c.544	CCDS4206.1	5	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932384	0.92389	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.20598	2.06	4.23	4.23	0.50019	.	0.072868	0.56097	D	0.000024	T	0.13114	0.0318	N	0.14661	0.345	0.25062	N	0.991055	B	0.06786	0.001	B	0.09377	0.004	T	0.18116	-1.0347	10	0.59425	D	0.04	-23.8891	10.8733	0.46896	0.0:0.0:0.1586:0.8413	.	182	P18146	EGR1_HUMAN	T	182	ENSP00000239938:A182T	ENSP00000239938:A182T	A	+	1	0	EGR1	137830581	0.797000	0.28877	0.132000	0.22025	0.700000	0.40528	1.159000	0.31749	0.507000	0.28148	-0.824000	0.03097	GCC	EGR1	-	pfam_DUF3446	ENSG00000120738		0.652	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1		0.00	77	0	G	NM_001964		137802682	+1			no_errors	ENST00000239938	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.993	A
EHD2	30846	genome.wustl.edu	37	19	48219925	48219925	+	Missense_Mutation	SNP	G	G	A	rs371409023		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:48219925G>A	ENST00000263277.3	+	2	307	c.56G>A	c.(55-57)cGc>cAc	p.R19H	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Intron	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	19					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GAGGCCATCCGCACGGTGACC	0.687																																																	0								G	HIS/ARG	2,4398		0,2,2198	18.0	16.0	17.0		56	2.8	1.0	19		17	0,8588		0,0,4294	no	missense	EHD2	NM_014601.3	29	0,2,6492	AA,AG,GG		0.0,0.0455,0.0154	benign	19/544	48219925	2,12986	2200	4294	6494	SO:0001583	missense	0			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.56G>A	19.37:g.48219925G>A	ENSP00000263277:p.Arg19His		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.R19H	ENST00000263277.3	37	c.56	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777513	0.49786	4.55E-4	0.0	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364	T	0.18174	2.23	3.88	2.84	0.33178	.	0.127666	0.50627	D	0.000110	T	0.08044	0.0201	N	0.11201	0.11	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16100	-1.0414	10	0.44086	T	0.13	-16.1741	6.1097	0.20094	0.2345:0.0:0.7655:0.0	.	19	Q9NZN4	EHD2_HUMAN	H	19	ENSP00000263277:R19H	ENSP00000263277:R19H	R	+	2	0	EHD2	52911737	0.968000	0.33430	1.000000	0.80357	0.981000	0.71138	1.163000	0.31798	0.991000	0.38814	0.511000	0.50034	CGC	EHD2	-	NULL	ENSG00000024422		0.687	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	-	0.00	60	0	G			48219925	+1	tier1	-	no_errors	ENST00000263277	ensembl	human	known	74_37	missense	9.64	75	8	SNP	1.000	A
EHMT1	79813	genome.wustl.edu	37	9	140707552	140707552	+	Missense_Mutation	SNP	G	G	A	rs565543981		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:140707552G>A	ENST00000460843.1	+	20	2989	c.2962G>A	c.(2962-2964)Gct>Act	p.A988T		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	988					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGTGTGGAGCGCTCTGCAGAT	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18529	0.0		0.0	False		,,,				2504	0.0																0													54.0	62.0	59.0					9																	140707552		2203	4300	6503	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2962G>A	9.37:g.140707552G>A	ENSP00000417980:p.Ala988Thr		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.A988T	ENST00000460843.1	37	c.2962	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919579	0.52653	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.71461	-0.57	4.99	4.08	0.47627	.	0.215304	0.48767	D	0.000172	T	0.63628	0.2527	L	0.52011	1.625	0.80722	D	1	B	0.31383	0.321	B	0.29524	0.103	T	0.67317	-0.5701	10	0.54805	T	0.06	.	12.7466	0.57285	0.0792:0.0:0.9208:0.0	.	988	Q9H9B1	EHMT1_HUMAN	T	957;988	ENSP00000417980:A988T	ENSP00000360453:A957T	A	+	1	0	EHMT1	139827373	1.000000	0.71417	0.600000	0.28864	0.715000	0.41141	5.328000	0.65887	2.292000	0.77174	0.655000	0.94253	GCT	EHMT1	-	smart_Ankyrin_rpt	ENSG00000181090		0.587	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	-	0.00	70	0	G	NM_024757		140707552	+1	tier1	-	no_errors	ENST00000460843	ensembl	human	known	74_37	missense	23.08	59	18	SNP	0.825	A
EIF2AK4	440275	genome.wustl.edu	37	15	40241361	40241361	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:40241361C>T	ENST00000263791.5	+	4	448	c.405C>T	c.(403-405)agC>agT	p.S135S	EIF2AK4_ENST00000559624.1_Silent_p.S135S|snoU13_ENST00000459610.1_RNA|EIF2AK4_ENST00000382727.2_Silent_p.S135S	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	135	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CATTTCTCAGCGAGCATAACA	0.473																																																	0													206.0	186.0	192.0					15																	40241361		1931	4131	6062	SO:0001819	synonymous_variant	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.405C>T	15.37:g.40241361C>T			C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.S135	ENST00000263791.5	37	c.405	CCDS42016.1	15																																																																																			EIF2AK4	-	superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain	ENSG00000128829		0.473	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	-	0.00	82	0	C			40241361	+1	tier1	-	no_errors	ENST00000263791	ensembl	human	known	74_37	silent	7.46	62	5	SNP	0.329	T
EIF2AK4	440275	genome.wustl.edu	37	15	40318214	40318214	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:40318214C>T	ENST00000263791.5	+	33	4469	c.4426C>T	c.(4426-4428)Cgt>Tgt	p.R1476C	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R1448C	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1476	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GACAGAGAAGCGTGTGCTGGA	0.443																																																	0													101.0	97.0	98.0					15																	40318214		1982	4178	6160	SO:0001583	missense	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4426C>T	15.37:g.40318214C>T	ENSP00000263791:p.Arg1476Cys		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.R1476C	ENST00000263791.5	37	c.4426	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227629	0.79576	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.48522	0.81;0.81	5.71	5.71	0.89125	Serine/threonine-protein kinase GCN2, anticodon binding domain (1);	0.061590	0.64402	D	0.000004	T	0.51024	0.1650	L	0.27053	0.805	0.58432	D	0.999994	D;D	0.71674	0.997;0.998	P;P	0.59643	0.781;0.861	T	0.52313	-0.8592	10	0.62326	D	0.03	-6.1882	12.8738	0.57980	0.2706:0.7294:0.0:0.0	.	1448;1476	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	C	1476;1448	ENSP00000263791:R1476C;ENSP00000372174:R1448C	ENSP00000263791:R1476C	R	+	1	0	EIF2AK4	38105506	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.892000	0.28322	2.681000	0.91329	0.655000	0.94253	CGT	EIF2AK4	-	superfamily_Anticodon-bd,pirsf_Ser/Thr_kinase_GCN2	ENSG00000128829		0.443	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	-	0.00	47	0	C			40318214	+1	tier1	-	no_errors	ENST00000263791	ensembl	human	known	74_37	missense	46.81	25	22	SNP	1.000	T
EIF2B3	8891	genome.wustl.edu	37	1	45407182	45407182	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:45407182delT	ENST00000360403.2	-	4	576	c.450delA	c.(448-450)aaafs	p.K150fs	EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Frame_Shift_Del_p.K150fs	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	150					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCTTACCTGCTTTTTTTTTCC	0.358																																					Colon(26;357 658 2581 11857 12657)												0													147.0	137.0	141.0					1																	45407182		2203	4300	6503	SO:0001589	frameshift_variant	0			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.450delA	1.37:g.45407182delT	ENSP00000353575:p.Lys150fs		B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Frame_Shift_Del	DEL	pfam_NTP_transferase	p.A151fs	ENST00000360403.2	37	c.450	CCDS517.1	1																																																																																			EIF2B3	-	NULL	ENSG00000070785		0.358	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B3	HGNC	protein_coding	OTTHUMT00000023724.1		0.00	66	0	T	NM_020365		45407182	-1	tier1		no_errors	ENST00000360403	ensembl	human	known	74_37	frame_shift_del	26.42	39	14	DEL	0.997	-
EIF3J	8669	genome.wustl.edu	37	15	44829562	44829562	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:44829562delG	ENST00000535391.1	+	2	96	c.84delG	c.(82-84)gtgfs	p.V28fs	EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000261868.5_Frame_Shift_Del_p.V28fs|EIF3J_ENST00000424492.3_Frame_Shift_Del_p.V28fs					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TGCGGAAGGTGGGGGGCGGCG	0.731																																																	0													5.0	7.0	7.0					15																	44829562		2088	4097	6185	SO:0001589	frameshift_variant	0			U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.84delG	15.37:g.44829562delG	ENSP00000440221:p.Val28fs			Frame_Shift_Del	DEL	pfam_eIF3j	p.G30fs	ENST00000535391.1	37	c.84		15																																																																																			EIF3J	-	pfam_eIF3j	ENSG00000104131		0.731	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	EIF3J	HGNC	protein_coding	OTTHUMT00000396804.1		0.00	27	0	G	NM_003758		44829562	+1	tier1		no_errors	ENST00000261868	ensembl	human	known	74_37	frame_shift_del	10.81	33	4	DEL	0.997	-
ELAVL3	1995	genome.wustl.edu	37	19	11565666	11565666	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:11565666G>A	ENST00000359227.3	-	7	1203	c.779C>T	c.(778-780)tCg>tTg	p.S260L	ELAVL3_ENST00000438662.2_Missense_Mutation_p.S253L	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	260					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGCGATCGGCGAGAACCTGGC	0.677																																																	0													107.0	120.0	116.0					19																	11565666		2201	4291	6492	SO:0001583	missense	0				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.779C>T	19.37:g.11565666G>A	ENSP00000352162:p.Ser260Leu		Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.S260L	ENST00000359227.3	37	c.779	CCDS32912.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.263786	0.95399	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.09630	2.98;2.96	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	M	0.87456	2.885	0.80722	D	1	D;P	0.58620	0.983;0.934	P;P	0.48488	0.579;0.477	T	0.30475	-0.9977	10	0.66056	D	0.02	.	16.6509	0.85189	0.0:0.0:1.0:0.0	.	260;253	Q14576;Q14576-2	ELAV3_HUMAN;.	L	260;253	ENSP00000352162:S260L;ENSP00000390878:S253L	ENSP00000352162:S260L	S	-	2	0	ELAVL3	11426666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.319000	0.96338	2.231000	0.72958	0.505000	0.49811	TCG	ELAVL3	-	tigrfam_ELAD_HUD_SF	ENSG00000196361		0.677	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2	-	0.00	48	0	G	NM_001420		11565666	-1	tier1	-	no_errors	ENST00000359227	ensembl	human	known	74_37	missense	14.04	49	8	SNP	1.000	A
EIF3K	27335	genome.wustl.edu	37	19	39127545	39127545	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:39127545G>T	ENST00000593149.1	+	8	712	c.381G>T	c.(379-381)atG>atT	p.M127I	EIF3K_ENST00000588934.1_Missense_Mutation_p.W124L|EIF3K_ENST00000592558.1_Missense_Mutation_p.M188I|EIF3K_ENST00000248342.4_Missense_Mutation_p.M214I					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGCATCATGGCCTCCTCCC	0.557																																																	0													208.0	176.0	187.0					19																	39127545		2203	4300	6503	SO:0001583	missense	0			AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000593149.1:c.381G>T	19.37:g.39127545G>T	ENSP00000465460:p.Met127Ile			Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	p.M214I	ENST00000593149.1	37	c.642		19	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229151	0.58777	.	.	ENSG00000178982	ENST00000248342	.	.	.	4.46	4.46	0.54185	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.053328	0.64402	D	0.000001	T	0.65322	0.2680	M	0.62723	1.935	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.67015	-0.5777	9	0.87932	D	0	-21.5263	16.0461	0.80722	0.0:0.0:1.0:0.0	.	214	Q9UBQ5	EIF3K_HUMAN	I	214	.	ENSP00000248342:M214I	M	+	3	0	EIF3K	43819385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.000000	0.70678	2.325000	0.78763	0.555000	0.69702	ATG	EIF3K	-	NULL	ENSG00000178982		0.557	EIF3K-004	PUTATIVE	basic|exp_conf	protein_coding	EIF3K	HGNC	protein_coding	OTTHUMT00000453405.1	-	0.00	114	0	G	NM_013234		39127545	+1	tier1	-	no_errors	ENST00000248342	ensembl	human	known	74_37	missense	22.68	75	22	SNP	1.000	T
ELMO1	9844	genome.wustl.edu	37	7	37251076	37251076	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:37251076G>A	ENST00000310758.4	-	13	1648	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	ELMO1_ENST00000448602.1_Missense_Mutation_p.A334V|ELMO1_ENST00000442504.1_Missense_Mutation_p.A334V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	334	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTCAGACTCAGCATCAAAAGC	0.428																																																	0													164.0	128.0	140.0					7																	37251076		2203	4300	6503	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1001C>T	7.37:g.37251076G>A	ENSP00000312185:p.Ala334Val		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.A334V	ENST00000310758.4	37	c.1001	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313448	0.40996	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.9	4.9	0.64082	Engulfment/cell motility, ELMO (2);	0.065706	0.64402	D	0.000010	T	0.24314	0.0589	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.03268	-1.1054	10	0.27785	T	0.31	.	12.3777	0.55289	0.0791:0.0:0.9209:0.0	.	334	Q92556	ELMO1_HUMAN	V	334;238;334;334;75	ENSP00000312185:A334V;ENSP00000406952:A334V;ENSP00000394458:A334V;ENSP00000395933:A75V	ENSP00000312185:A334V	A	-	2	0	ELMO1	37217601	1.000000	0.71417	0.965000	0.40720	0.906000	0.53458	5.309000	0.65774	2.652000	0.90054	0.491000	0.48974	GCT	ELMO1	-	pfam_Engulfment_cell_motility_ELMO	ENSG00000155849		0.428	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0.00	63	0	G	NM_130442		37251076	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.992	A
ELN	2006	genome.wustl.edu	37	7	73470749	73470749	+	Silent	SNP	G	G	A	rs367742656		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:73470749G>A	ENST00000252034.7	+	20	1698	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	ELN_ENST00000380575.4_Silent_p.P423P|ELN_ENST00000445912.1_Silent_p.P433P|ELN_ENST00000380584.4_Silent_p.P419P|ELN_ENST00000358929.4_Silent_p.P433P|ELN_ENST00000320492.7_Intron|ELN_ENST00000320399.6_Silent_p.P433P|ELN_ENST00000429192.1_Silent_p.P438P|ELN_ENST00000458204.1_Silent_p.P423P|ELN_ENST00000414324.1_Silent_p.P428P|ELN_ENST00000357036.5_Silent_p.P438P|ELN_ENST00000380553.4_Silent_p.P316P|ELN_ENST00000380576.5_Silent_p.P433P|ELN_ENST00000380562.4_Silent_p.P433P	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GAGGTGTCCCGGGAGTTGGCA	0.637			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						G|||	1	0.000199681	0.0008	0.0	5008	,	,		15602	0.0		0.0	False		,,,				2504	0.0							Dom	yes		7	7q11.23	2006	elastin	yes	L	0								G	,,,,	1,4405	2.1+/-5.4	0,1,2202	89.0	83.0	85.0		1299,1269,1314,1314,1299	-4.6	0.1	7		85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ELN	NM_000501.2,NM_001081752.1,NM_001081753.1,NM_001081754.1,NM_001081755.1	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	433/725,423/678,438/693,438/712,433/706	73470749	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1299G>A	7.37:g.73470749G>A			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	prints_Tropoelastin	p.P433	ENST00000252034.7	37	c.1299	CCDS5562.2	7																																																																																			ELN	-	NULL	ENSG00000049540		0.637	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	-	0.00	82	0	G	NM_000501		73470749	+1	tier1	-	no_errors	ENST00000358929	ensembl	human	known	74_37	silent	13.98	80	13	SNP	0.075	A
ELOVL1	64834	genome.wustl.edu	37	1	43830364	43830364	+	Intron	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:43830364A>G	ENST00000372458.3	-	5	493				ELOVL1_ENST00000413844.2_Intron|ELOVL1_ENST00000470769.1_Intron	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1						cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGGCTTCTCCACCTCATTCTC	0.498																																																	0													115.0	120.0	118.0					1																	43830364		2203	4300	6503	SO:0001627	intron_variant	0			AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.375+44T>C	1.37:g.43830364A>G			B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	RNA	SNP	-	NULL	ENST00000372458.3	37	NULL	CCDS485.1	1																																																																																			ELOVL1	-	-	ENSG00000066322		0.498	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL1	HGNC	protein_coding	OTTHUMT00000019496.1	-	0.00	42	0	A	NM_022821		43830364	-1	tier1	-	no_errors	ENST00000496932	ensembl	human	known	74_37	rna	19.44	29	7	SNP	0.000	G
EMC10	284361	genome.wustl.edu	37	19	50985132	50985132	+	Intron	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50985132delG	ENST00000334976.6	+	7	724				EMC10_ENST00000376918.3_Frame_Shift_Del_p.L231fs|CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000598585.1_Intron	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10							ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A234fs*56(1)									ACATCATCCTGGGGGGGGCCG	0.736																																																	1	Insertion - Frameshift(1)	large_intestine(1)							,	77,52,3703		3,0,71,2,48,1792					,	3.7	1.0			8	210,155,7453		5,1,199,6,142,3556	no	intron,codingComplex	C19orf63	NM_206538.2,NM_175063.4	,	8,1,270,8,190,5348	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6687,3.3664,4.2403	,	,		287,207,11156				SO:0001627	intron_variant	0			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.679-274G>-	19.37:g.50985132delG			Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Frame_Shift_Del	DEL	NULL	p.A234fs	ENST00000334976.6	37	c.693	CCDS12796.1	19																																																																																			EMC10	-	NULL	ENSG00000161671		0.736	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC10	HGNC	protein_coding	OTTHUMT00000464760.2		0.00	82	0	G	NM_175063		50985132	+1	tier1		no_errors	ENST00000376918	ensembl	human	known	74_37	frame_shift_del	20.00	80	20	DEL	1.000	-
EML2	24139	genome.wustl.edu	37	19	46129994	46129994	+	Frame_Shift_Del	DEL	C	C	-	rs149378245		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:46129994delC	ENST00000245925.3	-	8	760	c.710delG	c.(709-711)ggcfs	p.G237fs	EML2_ENST00000536630.1_Frame_Shift_Del_p.G384fs|EML2_ENST00000587152.1_Frame_Shift_Del_p.G438fs|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Frame_Shift_Del_p.G237fs	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	237	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCTCAAGCTGCCCCCCTCCAA	0.597																																																	0													84.0	83.0	83.0					19																	46129994		2203	4300	6503	SO:0001589	frameshift_variant	0			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.710delG	19.37:g.46129994delC	ENSP00000245925:p.Gly237fs		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Frame_Shift_Del	DEL	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G438fs	ENST00000245925.3	37	c.1313	CCDS12670.1	19																																																																																			EML2	-	superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom	ENSG00000125746		0.597	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1		0.00	95	0	C	NM_012155		46129994	-1	tier1		no_errors	ENST00000587152	ensembl	human	known	74_37	frame_shift_del	13.64	76	12	DEL	0.991	-
EML4	27436	genome.wustl.edu	37	2	42511825	42511825	+	Silent	SNP	C	C	T	rs566921568	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:42511825C>T	ENST00000318522.5	+	9	1255	c.993C>T	c.(991-993)ggC>ggT	p.G331G	EML4_ENST00000401738.3_Silent_p.G342G|EML4_ENST00000402711.2_Silent_p.G273G	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	331					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.G331G(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGATAGCTGGCGTGGATAAAG	0.378			T	ALK	NSCLC								C|||	2	0.000399361	0.0	0.0	5008	,	,		17034	0.0		0.0	False		,,,				2504	0.002							Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	1	Substitution - coding silent(1)	lung(1)											169.0	160.0	163.0					2																	42511825		2203	4300	6503	SO:0001819	synonymous_variant	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.993C>T	2.37:g.42511825C>T			A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G331	ENST00000318522.5	37	c.993	CCDS1807.1	2																																																																																			EML4	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat	ENSG00000143924		0.378	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0.00	73	0	C	NM_019063		42511825	+1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	silent	14.67	64	11	SNP	1.000	T
EML4	27436	genome.wustl.edu	37	2	42557031	42557031	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:42557031C>T	ENST00000318522.5	+	23	2892	c.2630C>T	c.(2629-2631)gCg>gTg	p.A877V	EML4_ENST00000401738.3_Missense_Mutation_p.A888V|EML4_ENST00000402711.2_Missense_Mutation_p.A819V|EML4_ENST00000453191.2_Missense_Mutation_p.A141V	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	877					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GAGACTGTAGCGGATACTACT	0.453			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													160.0	154.0	156.0					2																	42557031		2203	4300	6503	SO:0001583	missense	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2630C>T	2.37:g.42557031C>T	ENSP00000320663:p.Ala877Val		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A877V	ENST00000318522.5	37	c.2630	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519604	0.44866	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;T;T	0.42900	1.15;1.2;1.2;0.96	5.37	3.46	0.39613	.	0.741479	0.12750	N	0.442231	T	0.21022	0.0506	N	0.08118	0	0.09310	N	1	B;B;B;B	0.09022	0.001;0.0;0.002;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.12502	-1.0545	10	0.31617	T	0.26	-0.1855	6.3227	0.21227	0.0:0.5905:0.0:0.4095	.	819;819;888;877	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	V	877;819;888;141	ENSP00000320663:A877V;ENSP00000385059:A819V;ENSP00000384939:A888V;ENSP00000400590:A141V	ENSP00000320663:A877V	A	+	2	0	EML4	42410535	0.000000	0.05858	0.002000	0.10522	0.761000	0.43186	0.646000	0.24797	1.311000	0.45024	0.655000	0.94253	GCG	EML4	-	NULL	ENSG00000143924		0.453	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0.00	53	0	C	NM_019063		42557031	+1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.000	T
EML5	161436	genome.wustl.edu	37	14	89163272	89163272	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:89163272T>C	ENST00000380664.5	-	15	2262	c.2263A>G	c.(2263-2265)Ata>Gta	p.I755V	EML5_ENST00000352093.5_Missense_Mutation_p.I755V|EML5_ENST00000554922.1_Missense_Mutation_p.I755V			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	755						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTATCCCATATATGAATTGAG	0.333																																																	0													76.0	73.0	74.0					14																	89163272		1814	4081	5895	SO:0001583	missense	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2263A>G	14.37:g.89163272T>C	ENSP00000370039:p.Ile755Val		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I755V	ENST00000380664.5	37	c.2263	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	T	0.597	-0.830624	0.02734	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.60040	0.22;0.22;0.22	5.28	1.7	0.24286	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.263661	0.34906	N	0.003588	T	0.27098	0.0664	N	0.04018	-0.295	0.36866	D	0.888681	B	0.02656	0.0	B	0.10450	0.005	T	0.19679	-1.0298	10	0.06891	T	0.86	-9.8592	8.3661	0.32387	0.0:0.2334:0.0:0.7666	.	755	Q05BV3	EMAL5_HUMAN	V	755	ENSP00000451998:I755V;ENSP00000298315:I755V;ENSP00000370039:I755V	ENSP00000298315:I755V	I	-	1	0	EML5	88233025	0.999000	0.42202	0.998000	0.56505	0.775000	0.43874	0.502000	0.22594	0.148000	0.19059	-0.256000	0.11100	ATA	EML5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165521		0.333	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	-	0.00	51	0	T			89163272	-1	tier1	-	no_errors	ENST00000554922	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	C
EML5	161436	genome.wustl.edu	37	14	89181397	89181398	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:89181397_89181398insT	ENST00000380664.5	-	9	1328_1329	c.1329_1330insA	c.(1327-1332)aaagttfs	p.V444fs	EML5_ENST00000352093.5_Frame_Shift_Ins_p.V444fs|EML5_ENST00000554922.1_Frame_Shift_Ins_p.V444fs			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	444						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACTCGCCAACTTTTTTATAAC	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1330dupA	14.37:g.89181403_89181403dupT	ENSP00000370039:p.Val444fs		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V443fs	ENST00000380664.5	37	c.1330_1329	CCDS45148.1	14																																																																																			EML5	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000165521		0.391	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1		0.00	54	0	-			89181398	-1	tier1		no_errors	ENST00000554922	ensembl	human	known	74_37	frame_shift_ins	28.07	41	16	INS	0.989:0.969	T
LOC105372257	105372257	genome.wustl.edu	37	19	6952853	6952853	+	RNA	SNP	G	G	A	rs534280125		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6952853G>A	ENST00000593558.1	+	0	0				EMR4P_ENST00000600751.1_RNA																							ATACAGCAGAGAGGCCAGAAA	0.428													g|||	1	0.000199681	0.0	0.0	5008	,	,		20565	0.0		0.0	False		,,,				2504	0.001																0																																												0																															19.37:g.6952853G>A				RNA	SNP	-	NULL	ENST00000593558.1	37	NULL		19																																																																																			EMR4P	-	-	ENSG00000268758		0.428	RP11-1137G4.3-001	KNOWN	basic	antisense	EMR4P	HGNC	antisense	OTTHUMT00000458493.1	-	0.00	24	0	G			6952853	-1	tier1	-	no_errors	ENST00000600751	ensembl	human	known	74_37	rna	37.50	5	3	SNP	0.000	A
EMX1	2016	genome.wustl.edu	37	2	73143905	73143905	+	3'UTR	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:73143905G>T	ENST00000394111.5	+	0	517				EMX1_ENST00000258106.6_5'Flank			Q04741	EMX1_HUMAN	empty spiracles homeobox 1						brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						AGCCCCCAGAGCCTCAGAGAA	0.662																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000394111.5:c.*514G>T	2.37:g.73143905G>T			Q0D2P0|Q53T30|Q86XB0	RNA	SNP	-	NULL	ENST00000394111.5	37	NULL		2	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456297	0.26161	.	.	ENSG00000135638	ENST00000394111	.	.	.	4.01	-6.1	0.02138	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38373	-0.9664	5	0.87932	D	0	.	0.1542	0.00096	0.2623:0.185:0.262:0.2907	.	.	.	.	D	31	.	ENSP00000377670:E31D	E	+	3	2	EMX1	72997413	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.502000	0.02279	-1.168000	0.02776	0.455000	0.32223	GAG	EMX1	-	-	ENSG00000135638		0.662	EMX1-002	KNOWN	basic	processed_transcript	EMX1	HGNC	protein_coding	OTTHUMT00000251992.3	-	0.00	38	0	G			73143905	+1	tier1	-	no_errors	ENST00000394111	ensembl	human	known	74_37	rna	28.57	23	10	SNP	0.000	T
EMX2	2018	genome.wustl.edu	37	10	119308258	119308258	+	3'UTR	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:119308258T>C	ENST00000553456.3	+	0	2098				EMX2_ENST00000442245.4_3'UTR|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2						anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TCGCTGTGTTTCCCCCCCATC	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.*515T>C	10.37:g.119308258T>C			G3V305|Q96NN8|Q9BQF4	RNA	SNP	-	NULL	ENST00000553456.3	37	NULL	CCDS7601.1	10																																																																																			EMX2	-	-	ENSG00000170370		0.368	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4	-	0.00	73	0	T	NM_004098		119308258	+1	tier1	-	no_errors	ENST00000546446	ensembl	human	known	74_37	rna	36.92	41	24	SNP	0.000	C
EN1	2019	genome.wustl.edu	37	2	119603905	119603905	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:119603905C>T	ENST00000295206.6	-	1	1349	c.839G>A	c.(838-840)cGt>cAt	p.R280H	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	280					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						ATCCGAATAACGTGTGCAGTA	0.647																																																	0													28.0	32.0	31.0					2																	119603905		2203	4300	6503	SO:0001583	missense	0			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.839G>A	2.37:g.119603905C>T	ENSP00000295206:p.Arg280His		Q4ZG44	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4	p.R280H	ENST00000295206.6	37	c.839	CCDS2123.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187897	0.78789	.	.	ENSG00000163064	ENST00000295206	D	0.92299	-3.01	3.72	3.72	0.42706	.	0.281842	0.32719	N	0.005738	D	0.95439	0.8519	M	0.77712	2.385	0.44352	D	0.997245	D	0.89917	1.0	D	0.85130	0.997	D	0.95805	0.8836	10	0.87932	D	0	-8.3548	13.4305	0.61053	0.0:1.0:0.0:0.0	.	280	Q05925	HME1_HUMAN	H	280	ENSP00000295206:R280H	ENSP00000295206:R280H	R	-	2	0	EN1	119320375	0.997000	0.39634	0.937000	0.37676	0.753000	0.42808	7.368000	0.79567	2.082000	0.62665	0.549000	0.68633	CGT	EN1	-	NULL	ENSG00000163064		0.647	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EN1	HGNC	protein_coding	OTTHUMT00000254191.3		0.00	14	0	C			119603905	-1			no_errors	ENST00000295206	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.943	T
ENHO	375704	genome.wustl.edu	37	9	34521524	34521524	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:34521524G>T	ENST00000399775.2	-	2	595	c.170C>A	c.(169-171)cCt>cAt	p.P57H	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	57						extracellular region (GO:0005576)				endometrium(1)|lung(1)	2						GGCCTTCTCAGGACAGGGGCC	0.637																																																	0													58.0	70.0	66.0					9																	34521524		2078	4212	6290	SO:0001583	missense	0			BC022101	CCDS43795.1	9p13.3	2008-12-10	2008-12-10	2008-12-10	ENSG00000168913	ENSG00000168913			24838	protein-coding gene	gene with protein product	"""adropin"""		"""chromosome 9 open reading frame 165"""	C9orf165		12975309, 19041763	Standard	NM_198573		Approved	UNQ470	uc003zun.1	Q6UWT2	OTTHUMG00000159589	ENST00000399775.2:c.170C>A	9.37:g.34521524G>T	ENSP00000382675:p.Pro57His		Q8N666	Missense_Mutation	SNP	NULL	p.P57H	ENST00000399775.2	37	c.170	CCDS43795.1	9	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735992	0.49045	.	.	ENSG00000168913	ENST00000399775	.	.	.	5.12	5.12	0.69794	.	2.534210	0.02144	N	0.057386	T	0.69913	0.3164	.	.	.	0.28733	N	0.9024	D	0.76494	0.999	D	0.65443	0.935	T	0.55598	-0.8116	8	0.59425	D	0.04	.	14.0535	0.64751	0.0:0.0:1.0:0.0	.	57	Q6UWT2	ENHO_HUMAN	H	57	.	ENSP00000382675:P57H	P	-	2	0	ENHO	34511524	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.004000	0.63966	2.381000	0.81170	0.555000	0.69702	CCT	ENHO	-	NULL	ENSG00000168913		0.637	ENHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENHO	HGNC	protein_coding	OTTHUMT00000356348.1	-	0.00	59	0	G	NM_198573		34521524	-1	tier1	-	no_errors	ENST00000399775	ensembl	human	known	74_37	missense	22.92	36	11	SNP	1.000	T
ENO2	2026	genome.wustl.edu	37	12	7026786	7026786	+	Missense_Mutation	SNP	G	G	A	rs374122047		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:7026786G>A	ENST00000535366.1	+	5	978	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	ENO2_ENST00000541477.1_Missense_Mutation_p.V118M|ENO2_ENST00000229277.1_Missense_Mutation_p.V118M|ENO2_ENST00000544774.1_Missense_Mutation_p.V75M|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000538763.1_Missense_Mutation_p.V75M			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	118					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GTCTCTGGCCGTGTGTAAGGC	0.582																																																	0								G	MET/VAL	0,4406		0,0,2203	97.0	82.0	87.0		352	3.9	1.0	12		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENO2	NM_001975.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	118/435	7026786	1,13005	2203	4300	6503	SO:0001583	missense	0			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.352G>A	12.37:g.7026786G>A	ENSP00000437402:p.Val118Met		B7Z2X9|Q96J33	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.V118M	ENST00000535366.1	37	c.352	CCDS8570.1	12	.	.	.	.	.	.	.	.	.	.	g	20.6	4.022462	0.75275	0.0	1.16E-4	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366	T;T;T;T;T	0.35236	1.32;1.32;1.38;1.38;1.32	4.79	3.88	0.44766	Enolase, N-terminal (1);	0.241988	0.42682	D	0.000670	T	0.72162	0.3426	H	0.97783	4.075	0.53005	D	0.99996	D;D	0.71674	0.996;0.998	D;D	0.69824	0.951;0.966	T	0.83192	-0.0083	10	0.87932	D	0	-22.1653	14.032	0.64622	0.0776:0.0:0.9224:0.0	.	75;118	B7Z2X9;P09104	.;ENOG_HUMAN	M	118;118;75;75;118	ENSP00000438873:V118M;ENSP00000229277:V118M;ENSP00000441490:V75M;ENSP00000446195:V75M;ENSP00000437402:V118M	ENSP00000229277:V118M	V	+	1	0	ENO2	6897047	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.638000	0.54332	2.389000	0.81357	0.550000	0.68814	GTG	ENO2	-	pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	ENSG00000111674		0.582	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO2	HGNC	protein_coding	OTTHUMT00000401786.1	-	0.00	49	0	G			7026786	+1	tier1	-	no_errors	ENST00000229277	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.997	A
ENPEP	2028	genome.wustl.edu	37	4	111397885	111397885	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:111397885C>T	ENST00000265162.5	+	1	657	c.315C>T	c.(313-315)caC>caT	p.H105H		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	105					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ACGACCTGCACGTGAAGCCCC	0.617																																																	0													94.0	99.0	97.0					4																	111397885		2203	4300	6503	SO:0001819	synonymous_variant	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.315C>T	4.37:g.111397885C>T			Q504U2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.H105	ENST00000265162.5	37	c.315	CCDS3691.1	4																																																																																			ENPEP	-	pfam_Peptidase_M1_N	ENSG00000138792		0.617	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	-	0.00	36	0	C			111397885	+1	tier1	-	no_errors	ENST00000265162	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.780	T
AC018755.1	0	genome.wustl.edu	37	19	52097515	52097515	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:52097515C>A	ENST00000301439.3	-	1	115	c.60G>T	c.(58-60)gcG>gcT	p.A20A	AC018755.16_ENST00000598755.1_RNA																							TCTCTTTCTCCGCCCCCTCAA	0.527																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000301439.3:c.60G>T	19.37:g.52097515C>A				Silent	SNP	NULL	p.A20	ENST00000301439.3	37	c.60		19																																																																																			AC018755.1	-	NULL	ENSG00000167765		0.527	AC018755.1-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ENSG00000167765	Clone_based_ensembl_gene	protein_coding		-	0.00	38	0	C			52097515	-1	tier1	-	no_errors	ENST00000301439	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.000	A
ERLIN2	11160	genome.wustl.edu	37	8	37593487	37593487	+	5'Flank	DEL	A	A	-	rs112819064		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:37593487delA	ENST00000276461.5	+	0	0				ERLIN2_ENST00000519638.1_5'Flank|RP11-863K10.2_ENST00000523507.1_RNA|ERLIN2_ENST00000523887.1_5'Flank|RP11-863K10.7_ENST00000330539.1_Frame_Shift_Del_p.S177fs|ERLIN2_ENST00000397228.2_5'Flank|ERLIN2_ENST00000523107.1_5'Flank|ERLIN2_ENST00000518586.1_5'Flank|ERLIN2_ENST00000335171.6_5'Flank	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2						cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCAAGGAGAGAAAAAAAAAAA	0.458																																																	0																																										SO:0001631	upstream_gene_variant	0			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005		8.37:g.37593487delA	Exception_encountered		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Frame_Shift_Del	DEL	NULL	p.S177fs	ENST00000276461.5	37	c.529	CCDS6095.1	8																																																																																			RP11-863K10.7	-	NULL	ENSG00000183154		0.458	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000183154	Clone_based_vega_gene	protein_coding	OTTHUMT00000376712.2		0.00	20	0	A	NM_007175		37593487	-1	tier1		no_errors	ENST00000330539	ensembl	human	putative	74_37	frame_shift_del	21.43	22	6	DEL	0.002	-
KIAA1257	57501	genome.wustl.edu	37	3	128664075	128664075	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:128664075C>T	ENST00000508239.1	-	3	881	c.735G>A	c.(733-735)caG>caA	p.Q245Q	KIAA1257_ENST00000511438.1_Intron																							ACAGGATCTGCTGCAGGGTCC	0.592																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000508239.1:c.735G>A	3.37:g.128664075C>T				Silent	SNP	NULL	p.Q245	ENST00000508239.1	37	c.735		3																																																																																			RP11-723O4.6	-	NULL	ENSG00000187695		0.592	RP11-723O4.6-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	ENSG00000187695	Clone_based_vega_gene	protein_coding	OTTHUMT00000369697.1		0.00	25	0	C			128664075	-1			no_errors	ENST00000508239	ensembl	human	known	74_37	silent	9.52	19	2	SNP	1.000	T
ASCC1	51008	genome.wustl.edu	37	10	73940733	73940733	+	Intron	DEL	T	T	-	rs534461070	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:73940733delT	ENST00000342444.4	-	6	675				ASCC1_ENST00000394919.1_Intron|ASCC1_ENST00000317168.6_Intron|SNORA36_ENST00000363424.1_RNA|ASCC1_ENST00000545550.1_Intron|ASCC1_ENST00000317126.4_Intron|ASCC1_ENST00000394915.3_Intron	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TTCATTTGCCtttttttttgg	0.468																																																	0																																										SO:0001627	intron_variant	0			AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.573+15835A>-	10.37:g.73940733delT			Q5SW06|Q5SW07|Q96EI8|Q9Y307	RNA	DEL	-	NULL	ENST00000342444.4	37	NULL	CCDS55713.1	10																																																																																			SNORA36	-	-	ENSG00000200294		0.468	ASCC1-004	KNOWN	basic|CCDS	protein_coding	ENSG00000200294	RFAM	protein_coding	OTTHUMT00000048573.2		0.00	22	0	T	NM_015947		73940733	+1	tier1		no_errors	ENST00000363424	ensembl	human	novel	74_37	rna	22.22	14	4	DEL	0.371	-
HP1BP3	50809	genome.wustl.edu	37	1	21069688	21069688	+	3'UTR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:21069688delA	ENST00000312239.5	-	0	3403				HP1BP3_ENST00000375003.2_3'UTR|RP5-930J4.4_ENST00000413451.1_RNA	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3						nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AAAGGAGGGGAAAAAAACCCA	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.*1602T>-	1.37:g.21069688delA			A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	RNA	DEL	-	NULL	ENST00000312239.5	37	NULL	CCDS30621.1	1																																																																																			RP5-930J4.4	-	-	ENSG00000203394		0.303	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000203394	Clone_based_vega_gene	protein_coding	OTTHUMT00000007457.2		0.00	72	0	A	NM_016287		21069688	+1	tier1		no_errors	ENST00000413451	ensembl	human	known	74_37	rna	17.81	60	13	DEL	0.004	-
LINC01291	102724515	genome.wustl.edu	37	2	75157506	75157506	+	lincRNA	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:75157506G>A	ENST00000377469.1	+	0	2141																											gggctctgtggcttgggctct	0.522																																																	0																																												0																															2.37:g.75157506G>A				RNA	SNP	-	NULL	ENST00000377469.1	37	NULL		2																																																																																			AC104135.3	-	-	ENSG00000204792		0.522	AC104135.3-001	KNOWN	basic	lincRNA	ENSG00000204792	Clone_based_vega_gene	lincRNA	OTTHUMT00000328656.1		0.00	25	0	G			75157506	+1			no_errors	ENST00000377469	ensembl	human	known	74_37	rna	17.50	33	7	SNP	0.001	A
NKD1	85407	genome.wustl.edu	37	16	50640591	50640591	+	Intron	SNP	C	C	T	rs201124591		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:50640591C>T	ENST00000268459.3	+	4	416				NKD1_ENST00000564336.1_Intron|RP11-401P9.6_ENST00000379963.1_RNA	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)						eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTACTCAGACGTCTCATTGA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20622	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	0			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.193-1614C>T	16.37:g.50640591C>T			B2RC39|Q8WZ08	RNA	SNP	-	NULL	ENST00000268459.3	37	NULL	CCDS10743.1	16																																																																																			RP11-401P9.6	-	-	ENSG00000205414		0.552	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000205414	Clone_based_vega_gene	protein_coding	OTTHUMT00000256873.1	-	0.00	11	0	C			50640591	-1	tier1	rs201124591	no_errors	ENST00000379963	ensembl	human	known	74_37	rna	30.77	9	4	SNP	0.000	T
Unknown	0	genome.wustl.edu	37	GL000212.1	64490	64490	+	IGR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrGL000212.1:64490C>T								None (None upstream) : None (None downstream)																							AGGGCATCGCCGAGGACGCCA	0.672																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.64490C>T				Missense_Mutation	SNP	NULL	p.P80L		37	c.239		GL000212.1																																																																																			AL356585.1	-	NULL	ENSG00000212857	0	0.672					ENSG00000212857	Clone_based_ensembl_gene			-	0.00	73	0	C			64490	+1	tier1	-	no_errors	ENST00000391545	ensembl	human	known	74_37	missense	30.65	43	19	SNP	NULL	T
Unknown	0	genome.wustl.edu	37	GL000212.1	64846	64846	+	IGR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrGL000212.1:64846C>T								None (None upstream) : None (None downstream)																							AACGAGGACGCCGCCCAGGGC	0.697																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.64846C>T				Missense_Mutation	SNP	NULL	p.P199S		37	c.595		GL000212.1																																																																																			AL356585.1	-	NULL	ENSG00000212857	0	0.697					ENSG00000212857	Clone_based_ensembl_gene			-	0.00	96	0	C			64846	+1	tier1	-	no_errors	ENST00000391545	ensembl	human	known	74_37	missense	13.00	86	13	SNP	NULL	T
Unknown	0	genome.wustl.edu	37	GL000212.1	65483	65483	+	IGR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrGL000212.1:65483C>T								None (None upstream) : None (None downstream)																							CTAACGAGGACGCCGCCCAGG	0.647																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65483C>T				Missense_Mutation	SNP	NULL	p.T411M		37	c.1232		GL000212.1																																																																																			AL356585.1	-	NULL	ENSG00000212857	0	0.647					ENSG00000212857	Clone_based_ensembl_gene			-	0.00	82	0	C			65483	+1	tier1	-	no_errors	ENST00000391545	ensembl	human	known	74_37	missense	17.46	52	11	SNP	NULL	T
RP11-480I12.5	0	genome.wustl.edu	37	1	202822385	202822385	+	RNA	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:202822385delG	ENST00000443294.1	-	0	405																											GCACCACTGTGGGGGACTGGT	0.552																																																	0																																												0																															1.37:g.202822385delG				RNA	DEL	-	NULL	ENST00000443294.1	37	NULL		1																																																																																			RP11-480I12.5	-	-	ENSG00000214796		0.552	RP11-480I12.5-002	KNOWN	basic	processed_transcript	ENSG00000214796	Clone_based_vega_gene	pseudogene	OTTHUMT00000099138.1		0.00	53	0	G			202822385	-1	tier1		no_errors	ENST00000443294	ensembl	human	known	74_37	rna	23.81	32	10	DEL	0.272	-
RP11-1036E20.9	0	genome.wustl.edu	37	11	59038011	59038012	+	lincRNA	DEL	AA	AA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:59038011_59038012delAA	ENST00000399003.1	-	0	1141_1142																											agttgtttacaaaaaaaaaact	0.376																																																	0																																												0																															11.37:g.59038019_59038020delAA				RNA	DEL	-	NULL	ENST00000399003.1	37	NULL		11																																																																																			RP11-1036E20.9	-	-	ENSG00000214797		0.376	RP11-1036E20.9-001	KNOWN	basic	lincRNA	ENSG00000214797	Clone_based_vega_gene	lincRNA	OTTHUMT00000394611.1		0.00	40	0	AA			59038012	-1	tier1		no_errors	ENST00000399003	ensembl	human	known	74_37	rna	15.79	32	6	DEL	0.000:0.000	-
HMCN2	256158	genome.wustl.edu	37	9	133278211	133278211	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:133278211G>A	ENST00000277491.7	+	4	389	c.157G>A	c.(157-159)Gca>Aca	p.A53T	RN7SL665P_ENST00000578793.1_RNA|HMCN2_ENST00000487727.2_3'UTR																							CCCCATCCACGCAGGCCGCTA	0.657																																																	0																																										SO:0001583	missense	0																														ENST00000277491.7:c.157G>A	9.37:g.133278211G>A	ENSP00000277491:p.Ala53Thr			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like_dom	p.A53T	ENST00000277491.7	37	c.157		9	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617694	0.28801	.	.	ENSG00000215428	ENST00000277491	T	0.68025	-0.3	5.45	-3.55	0.04639	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56352	0.1979	M	0.66939	2.045	0.38588	D	0.950348	B	0.23937	0.094	B	0.18561	0.022	T	0.51204	-0.8735	8	0.45353	T	0.12	.	5.2438	0.15487	0.5349:0.0:0.1958:0.2692	.	3922	Q8NDA2	HMCN2_HUMAN	T	53	ENSP00000277491:A53T	ENSP00000277491:A53T	A	+	1	0	AL354898.1	132268032	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	0.045000	0.14013	-0.500000	0.06614	-0.350000	0.07774	GCA	AL354898.1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000215428		0.657	AL354898.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000215428	Clone_based_ensembl_gene	protein_coding		-	0.00	50	0	G			133278211	+1	tier1	-	no_errors	ENST00000277491	ensembl	human	novel	74_37	missense	28.07	41	16	SNP	0.056	A
AC026700.1	0	genome.wustl.edu	37	5	84823872	84823872	+	RNA	SNP	G	G	A	rs145369997		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:84823872G>A	ENST00000401134.1	-	0	80																											atatgtgtgtgtgtgtgtgtg	0.353																																																	0																																												0																															5.37:g.84823872G>A				RNA	SNP	-	NULL	ENST00000401134.1	37	NULL		5																																																																																			AC026700.1	-	-	ENSG00000215953		0.353	AC026700.1-201	NOVEL	basic	miRNA	ENSG00000215953	Clone_based_ensembl_gene	miRNA		-	0.00	43	0	G			84823872	-1	tier1	-	no_errors	ENST00000401134	ensembl	human	novel	74_37	rna	14.29	42	7	SNP	0.001	A
GSX2	170825	genome.wustl.edu	37	4	54969782	54969782	+	IGR	SNP	A	A	G	rs56366082|rs71200364|rs57728719		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:54969782A>G	ENST00000326902.2	+	0	1812				AC110298.1_ENST00000408292.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2						forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCGCGCGcacacacacacaca	0.582																																																	0																																										SO:0001628	intergenic_variant	0				CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696		4.37:g.54969782A>G				RNA	SNP	-	NULL	ENST00000326902.2	37	NULL	CCDS3494.1	4																																																																																			AC110298.1	-	-	ENSG00000221219		0.582	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221219	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000250595.1	-	0.00	41	0	A	NM_133267		54969782	-1	tier1	rs56366082	no_errors	ENST00000408292	ensembl	human	novel	74_37	rna	22.86	26	8	SNP	0.000	G
AC116553.1	0	genome.wustl.edu	37	16	35136394	35136394	+	RNA	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:35136394A>C	ENST00000408653.1	+	0	51																											aAAtgttgtaactgagtgagt	0.502																																																	0																																												0																															16.37:g.35136394A>C				RNA	SNP	-	NULL	ENST00000408653.1	37	NULL		16																																																																																			AC116553.1	-	-	ENSG00000221580		0.502	AC116553.1-201	NOVEL	basic	miRNA	ENSG00000221580	Clone_based_ensembl_gene	miRNA		-	0.00	68	0	A			35136394	+1	tier1	-	no_errors	ENST00000408653	ensembl	human	novel	74_37	rna	29.82	40	17	SNP	0.094	C
CPA6	57094	genome.wustl.edu	37	8	68623877	68623877	+	Intron	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:68623877T>C	ENST00000297770.4	-	1	332				CPA6_ENST00000297769.4_Intron|AC022861.1_ENST00000408733.1_RNA|CPA6_ENST00000518549.1_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6							proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			atgcgtgtggtatgtgtgtgg	0.507																																																	0																																										SO:0001627	intron_variant	0			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.116+34371A>G	8.37:g.68623877T>C			Q8NEX8|Q8TDE8|Q9NRI9	RNA	SNP	-	NULL	ENST00000297770.4	37	NULL	CCDS6200.1	8																																																																																			AC022861.1	-	-	ENSG00000221660		0.507	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221660	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000379296.2	-	0.00	45	0	T	NM_020361		68623877	+1	tier1	-	no_errors	ENST00000408733	ensembl	human	novel	74_37	rna	10.26	35	4	SNP	0.000	C
RP11-402P6.11	0	genome.wustl.edu	37	X	70979278	70979278	+	lincRNA	SNP	A	A	G	rs199772875		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:70979278A>G	ENST00000439926.1	-	0	440				BX276092.1_ENST00000408757.1_RNA																							gcgcgcgcacacacacacaca	0.557																																																	0																																												0																															X.37:g.70979278A>G				RNA	SNP	-	NULL	ENST00000439926.1	37	NULL		X																																																																																			BX276092.1	-	-	ENSG00000221684		0.557	RP11-402P6.11-001	KNOWN	basic	lincRNA	ENSG00000221684	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000057168.1	-	0.00	78	0	A			70979278	-1	tier1	-	no_errors	ENST00000408757	ensembl	human	novel	74_37	rna	30.00	14	6	SNP	0.001	G
PHF21B	112885	genome.wustl.edu	37	22	45298176	45298177	+	Intron	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:45298176_45298177insA	ENST00000313237.5	-	6	982				PHF21B_ENST00000396103.3_Intron|RP1-127B20.4_ENST00000431036.1_RNA|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B								zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CAGGGCAGCGCAAGGTTGATCA	0.47																																																	0																																										SO:0001627	intron_variant	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.832-6213->T	22.37:g.45298178_45298178dupA			B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	RNA	INS	-	NULL	ENST00000313237.5	37	NULL	CCDS14061.1	22																																																																																			RP1-127B20.4	-	-	ENSG00000223730		0.470	PHF21B-001	KNOWN	basic|CCDS	protein_coding	ENSG00000223730	Clone_based_vega_gene	protein_coding	OTTHUMT00000321731.2		0.00	8	0	-	NM_138415		45298177	+1	tier1		no_errors	ENST00000431036	ensembl	human	known	74_37	rna	33.33	6	3	INS	0.129:0.133	A
AL358813.2	0	genome.wustl.edu	37	1	149673393	149673393	+	5'Flank	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:149673393C>T	ENST00000369173.2	+	0	0				RP11-353N4.5_ENST00000608683.1_lincRNA|RP11-353N4.4_ENST00000443602.2_lincRNA|RNU1-68P_ENST00000517116.1_RNA																							AGGAATCAGACGGATGCGGAA	0.622																																																	0																																										SO:0001631	upstream_gene_variant	0																															1.37:g.149673393C>T	Exception_encountered			RNA	SNP	-	NULL	ENST00000369173.2	37	NULL		1																																																																																			RP11-353N4.4	-	-	ENSG00000223759		0.622	AL358813.2-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000223759	Clone_based_vega_gene	protein_coding		-	0.00	27	0	C			149673393	+1	tier1	-	no_errors	ENST00000443602	ensembl	human	known	74_37	rna	14.81	23	4	SNP	0.000	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150523419	150523419	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:150523419G>T	ENST00000271643.4	+	2	152				RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000483335.1_3'UTR|ADAMTSL4_ENST00000369038.2_5'Flank|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369041.5_Intron|AL356356.1_ENST00000538795.1_Missense_Mutation_p.R116S|ADAMTSL4_ENST00000369039.5_Intron	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4						apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAATGCGAGGGCTCCCTGGA	0.557																																																	0																																										SO:0001627	intron_variant	0			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000271643.4:c.-85+1048G>T	1.37:g.150523419G>T			B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	NULL	p.R116S	ENST00000271643.4	37	c.348	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	G	9.218	1.032536	0.19590	.	.	ENSG00000225996	ENST00000538795	.	.	.	3.32	-1.45	0.08828	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	T	0.35699	-0.9778	5	0.87932	D	0	.	4.4767	0.11746	0.2639:0.1789:0.5572:0.0	.	.	.	.	S	116	.	ENSP00000437481:R116S	R	+	3	2	AL356356.1	148790043	0.272000	0.24172	0.009000	0.14445	0.161000	0.22273	0.259000	0.18405	-0.644000	0.05465	-0.379000	0.06801	AGG	AL356356.1	-	NULL	ENSG00000225996		0.557	ADAMTSL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225996	Clone_based_ensembl_gene	protein_coding		-	0.00	28	0	G	NM_019032		150523419	+1	tier1	-	no_errors	ENST00000538795	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.013	T
ANKRD19P	138649	genome.wustl.edu	37	9	95646881	95646881	+	RNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:95646881C>T	ENST00000446878.1	+	0	415				ANKRD19P_ENST00000473204.1_RNA																							CTGGAGGAGACTTGGGACCTG	0.602																																																	0																																												0																															9.37:g.95646881C>T				RNA	SNP	-	NULL	ENST00000446878.1	37	NULL		9																																																																																			RP11-526D8.7	-	-	ENSG00000226668		0.602	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	ENSG00000226668	Clone_based_vega_gene	pseudogene	OTTHUMT00000316907.1	-	0.00	268	0	C			95646881	+1	tier1	-	no_errors	ENST00000411450	ensembl	human	known	74_37	rna	17.00	210	43	SNP	0.017	T
PLA2G2C	391013	genome.wustl.edu	37	1	20485496	20485497	+	IGR	INS	-	-	C	rs143670341	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:20485496_20485497insC	ENST00000429261.2	-	0	3249				RP3-340N1.2_ENST00000431027.1_lincRNA			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC						lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ttatggagcagccccctttgaa	0.5																																																	0																																										SO:0001628	intergenic_variant	0					1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"""phospholipase A2, group IIC (possible pseudogene)"""			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705		1.37:g.20485501_20485501dupC			Q7M4M6	RNA	INS	-	NULL	ENST00000429261.2	37	NULL		1																																																																																			RP3-340N1.2	-	-	ENSG00000227066		0.500	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	ENSG00000227066	Clone_based_vega_gene	protein_coding	OTTHUMT00000007689.3		0.00	9	0	-	NM_001105572		20485497	+1	tier1		no_errors	ENST00000431027	ensembl	human	known	74_37	rna	75.00	1	3	INS	0.299:0.301	C
DLG5	9231	genome.wustl.edu	37	10	79551102	79551104	+	3'UTR	DEL	AAA	AAA	-	rs78250856		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:79551102_79551104delAAA	ENST00000372391.2	-	0	6859_6861				RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000372388.2_3'UTR|DLG5_ENST00000459739.1_5'Flank|RP13-39P12.3_ENST00000601701.1_RNA	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)						apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCAGAAGTGCAAAAAAAAAAAAA	0.419																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.*1096TTT>-	10.37:g.79551111_79551113delAAA			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	RNA	DEL	-	NULL	ENST00000372391.2	37	NULL	CCDS7353.2	10																																																																																			RP13-39P12.3	-	-	ENSG00000228748		0.419	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228748	Clone_based_vega_gene	protein_coding	OTTHUMT00000048900.2		0.00	59	0	AAA			79551104	+1	tier1		no_errors	ENST00000601701	ensembl	human	known	74_37	rna	8.33	44	4	DEL	0.981:0.979:0.925	-
LOC100631378	100631378	genome.wustl.edu	37	19	38321508	38321509	+	lincRNA	DEL	CT	CT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:38321508_38321509delCT	ENST00000443870.1	+	0	1318_1319				AC016582.2_ENST00000592640.1_lincRNA																							CAAAGAGTTCCTCTCTCTCTGA	0.49																																																	0																																												0																															19.37:g.38321516_38321517delCT				RNA	DEL	-	NULL	ENST00000443870.1	37	NULL		19																																																																																			CTD-2554C21.3	-	-	ENSG00000229481		0.490	CTD-2554C21.3-001	KNOWN	basic	lincRNA	ENSG00000229481	Clone_based_vega_gene	lincRNA	OTTHUMT00000459795.1		0.00	53	0	CT			38321509	+1	tier1		no_errors	ENST00000443870	ensembl	human	known	74_37	rna	15.79	32	6	DEL	0.918:0.863	-
CREM	1390	genome.wustl.edu	37	10	35415940	35415940	+	5'Flank	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:35415940G>A	ENST00000395895.2	+	0	0				CREM_ENST00000374726.3_5'UTR|RP11-297A16.2_ENST00000450106.1_RNA|CREM_ENST00000374721.3_5'UTR|CREM_ENST00000354759.3_5'Flank|CREM_ENST00000489388.1_3'UTR|CREM_ENST00000460270.1_5'Flank|CREM_ENST00000489321.1_5'Flank|CREM_ENST00000469949.2_5'Flank|CREM_ENST00000345491.3_5'Flank|CREM_ENST00000429130.3_5'Flank|RP11-297A16.2_ENST00000450742.1_RNA|RP11-297A16.2_ENST00000457255.1_RNA|CREM_ENST00000374728.3_5'Flank|CREM_ENST00000474362.1_5'UTR			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CTTTTGGTCCGGGGTCGGCAG	0.746																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953		10.37:g.35415940G>A	Exception_encountered		A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	RNA	SNP	-	NULL	ENST00000395895.2	37	NULL		10																																																																																			RP11-297A16.2	-	-	ENSG00000230534		0.746	CREM-203	KNOWN	basic|appris_principal	protein_coding	ENSG00000230534	Clone_based_vega_gene	protein_coding		-	0.00	27	0	G	NM_001881		35415940	-1	tier1	-	no_errors	ENST00000457255	ensembl	human	known	74_37	rna	30.43	16	7	SNP	0.000	A
LOC105373343	105373343	genome.wustl.edu	37	X	139298521	139298521	+	lincRNA	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:139298521delT	ENST00000458577.1	-	0	247																											GGTGATTGAGTTTTTTTTCTT	0.388																																																	0																																												0																															X.37:g.139298521delT				RNA	DEL	-	NULL	ENST00000458577.1	37	NULL		X																																																																																			AC004070.1	-	-	ENSG00000231110		0.388	AC004070.1-001	KNOWN	basic	lincRNA	ENSG00000231110	Clone_based_vega_gene	lincRNA	OTTHUMT00000058576.1		0.00	102	0	T			139298521	-1	tier1		no_errors	ENST00000458577	ensembl	human	known	74_37	rna	14.81	69	12	DEL	0.000	-
IWS1	55677	genome.wustl.edu	37	2	128263364	128263366	+	Intron	DEL	AAA	AAA	-	rs74505769|rs72159568|rs568152426	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:128263364_128263366delAAA	ENST00000295321.4	-	3	410				IWS1_ENST00000455721.2_Intron|IWS1_ENST00000486662.1_Intron|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)						mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGGAAAGTGCAAAAAAAAAAAAA	0.315																																																	0																																										SO:0001627	intron_variant	0			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.151-36TTT>-	2.37:g.128263373_128263375delAAA			Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	RNA	DEL	-	NULL	ENST00000295321.4	37	NULL	CCDS2146.1	2																																																																																			AC010976.2	-	-	ENSG00000231731		0.315	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000231731	Clone_based_vega_gene	protein_coding	OTTHUMT00000254384.2		0.00	11	0	AAA	NM_017969		128263366	+1	tier1		no_errors	ENST00000599001	ensembl	human	known	74_37	rna	25.00	15	5	DEL	0.233:0.319:0.309	-
MAP1LC3BP1	392288	genome.wustl.edu	37	9	19461158	19461158	+	RNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:19461158C>T	ENST00000438342.1	-	0	515																											CAAGGAACTTCGTTTTATCCA	0.473																																																	0																																												0																															9.37:g.19461158C>T				RNA	SNP	-	NULL	ENST00000438342.1	37	NULL		9																																																																																			RP11-363E7.3	-	-	ENSG00000231909		0.473	RP11-363E7.3-002	KNOWN	basic	processed_transcript	ENSG00000231909	Clone_based_vega_gene	pseudogene	OTTHUMT00000331477.1	-	0.00	39	0	C			19461158	-1	tier1	-	no_errors	ENST00000438342	ensembl	human	known	74_37	rna	19.57	37	9	SNP	1.000	T
MYADM	91663	genome.wustl.edu	37	19	54379104	54379105	+	3'UTR	DEL	AA	AA	-	rs75209913|rs369211393		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:54379104_54379105delAA	ENST00000391769.2	+	0	2601_2602				AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_3'UTR|MYADM_ENST00000336967.3_3'UTR|MYADM_ENST00000391770.4_3'UTR	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker						establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		actccatctcaaaaaaaaaaag	0.5																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.*1353AA>-	19.37:g.54379112_54379113delAA			B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	RNA	DEL	-	NULL	ENST00000391769.2	37	NULL	CCDS12866.1	19																																																																																			AC008440.5	-	-	ENSG00000232220		0.500	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232220	Clone_based_vega_gene	protein_coding	OTTHUMT00000134337.1		0.00	18	0	AA	NM_138373		54379105	-1	tier1		no_errors	ENST00000413496	ensembl	human	known	74_37	rna	13.64	19	3	DEL	0.000:0.000	-
AC079135.1	0	genome.wustl.edu	37	2	237186046	237186046	+	RNA	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:237186046A>T	ENST00000415226.1	+	0	348																											aagaaaagaaaaaggaaaaag	0.284																																																	0																																												0																															2.37:g.237186046A>T				RNA	SNP	-	NULL	ENST00000415226.1	37	NULL		2	.	.	.	.	.	.	.	.	.	.	A	0.363	-0.938504	0.02340	.	.	ENSG00000233611	ENST00000415226	.	.	.	0.852	-1.7	0.08159	.	.	.	.	.	T	0.28333	0.0700	.	.	.	.	.	.	.	.	.	.	.	.	T	0.34054	-0.9844	3	.	.	.	.	4.3842	0.11309	0.4698:0.0:0.5302:0.0	.	.	.	.	N	116	.	.	K	+	3	2	AC079135.1	236850785	0.004000	0.15560	0.003000	0.11579	0.007000	0.05969	0.039000	0.13884	-0.698000	0.05085	-0.404000	0.06349	AAA	AC079135.1	-	-	ENSG00000233611		0.284	AC079135.1-002	KNOWN	basic	antisense	ENSG00000233611	Clone_based_vega_gene	antisense	OTTHUMT00000329483.2	-	0.00	74	0	A			237186046	+1	tier1	-	no_errors	ENST00000415226	ensembl	human	known	74_37	rna	16.46	66	13	SNP	0.003	T
LINC01287	103724390	genome.wustl.edu	37	7	153110371	153110371	+	lincRNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:153110371C>T	ENST00000416982.1	-	0	677																											tgggaggttgcgcagaaggca	0.488																																																	0													4.0	4.0	4.0					7																	153110371		668	1548	2216			0																															7.37:g.153110371C>T				RNA	SNP	-	NULL	ENST00000416982.1	37	NULL		7																																																																																			AC073236.3	-	-	ENSG00000234722		0.488	AC073236.3-001	KNOWN	basic	lincRNA	ENSG00000234722	Clone_based_vega_gene	lincRNA	OTTHUMT00000280517.1	-	0.00	13	0	C			153110371	-1	tier1	-	no_errors	ENST00000416982	ensembl	human	known	74_37	rna	50.00	10	10	SNP	0.012	T
CCT4	10575	genome.wustl.edu	37	2	62095872	62095872	+	Intron	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:62095872C>A	ENST00000394440.3	-	14	1902				CCT4_ENST00000538252.1_Intron|CCT4_ENST00000544185.1_Intron|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Intron	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATTTCAAAACCTGTAATGACA	0.338																																																	0													77.0	74.0	75.0					2																	62095872		2203	4300	6503	SO:0001627	intron_variant	0				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1606-31G>T	2.37:g.62095872C>A			B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	RNA	SNP	-	NULL	ENST00000394440.3	37	NULL	CCDS33206.1	2																																																																																			AC107081.5	-	-	ENSG00000236498		0.338	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000236498	Clone_based_vega_gene	protein_coding	OTTHUMT00000325548.2	-	0.00	39	0	C			62095872	+1	tier1	-	no_errors	ENST00000425779	ensembl	human	known	74_37	rna	11.36	39	5	SNP	0.000	A
AJ239322.1	0	genome.wustl.edu	37	2	132724261	132724261	+	lincRNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:132724261C>T	ENST00000419362.1	-	0	251				AJ239322.3_ENST00000421696.2_lincRNA																							ctaggtgcggcgaagtcctgc	0.582																																																	0													9.0	10.0	9.0					2																	132724261		690	1591	2281			0																															2.37:g.132724261C>T				RNA	SNP	-	NULL	ENST00000419362.1	37	NULL		2																																																																																			AJ239322.1	-	-	ENSG00000235615		0.582	AJ239322.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000235615	Clone_based_vega_gene	lincRNA	OTTHUMT00000316881.1	-	0.00	45	0	C			132724261	-1	tier1	-	no_errors	ENST00000419362	ensembl	human	known	74_37	rna	14.71	29	5	SNP	0.002	T
GCSAML	148823	genome.wustl.edu	37	1	247729143	247729143	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:247729143delT	ENST00000366488.4	+	4	243				GCSAML_ENST00000463359.1_Intron|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000536561.1_Intron	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like																		CTACATTCTGTTTTTTTCACC	0.353																																																	0																																										SO:0001627	intron_variant	0			AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.140-90T>-	1.37:g.247729143delT			B2R4Y5|B3KX46|Q5JQT3	RNA	DEL	-	NULL	ENST00000366488.4	37	NULL	CCDS1635.1	1																																																																																			RP11-978I15.10	-	-	ENSG00000236817		0.353	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000236817	Clone_based_vega_gene	protein_coding	OTTHUMT00000097745.4		0.00	36	0	T	NM_145278		247729143	-1	tier1		no_errors	ENST00000435333	ensembl	human	known	74_37	rna	18.42	31	7	DEL	0.000	-
GCSAML	148823	genome.wustl.edu	37	1	247729207	247729209	+	Intron	DEL	TTT	TTT	-	rs538995820|rs571531888|rs367904043	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:247729207_247729209delTTT	ENST00000366488.4	+	4	243				GCSAML_ENST00000463359.1_Intron|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000536561.1_Intron	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like																		CCTTTCTTTCTTTTTTTTTTTTT	0.33														6	0.00119808	0.0023	0.0	5008	,	,		18277	0.0		0.0	False		,,,				2504	0.0031																0																																										SO:0001627	intron_variant	0			AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.140-24TTT>-	1.37:g.247729216_247729218delTTT			B2R4Y5|B3KX46|Q5JQT3	RNA	DEL	-	NULL	ENST00000366488.4	37	NULL	CCDS1635.1	1																																																																																			RP11-978I15.10	-	-	ENSG00000236817		0.330	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000236817	Clone_based_vega_gene	protein_coding	OTTHUMT00000097745.4		0.00	25	0	TTT	NM_145278		247729209	-1	tier1		no_errors	ENST00000435333	ensembl	human	known	74_37	rna	25.71	26	9	DEL	0.000:0.000:0.001	-
LRRC29	26231	genome.wustl.edu	37	16	67244705	67244705	+	5'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:67244705C>T	ENST00000409037.1	-	0	283				LRRC29_ENST00000341546.3_Intron|LRRC29_ENST00000409509.1_Intron|AC040160.1_ENST00000454102.2_Missense_Mutation_p.G99S|LRRC29_ENST00000462169.1_5'UTR|LRRC29_ENST00000393992.1_Intron			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29											autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCTGGGCAGCCCAGGATCAGG	0.627																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"""F-box and leucine-rich repeat protein 9"""	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403	ENST00000409037.1:c.-614G>A	16.37:g.67244705C>T			B2RE92|Q9UKA0	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom	p.G99S	ENST00000409037.1	37	c.295	CCDS32465.1	16	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348390	0.24426	.	.	ENSG00000237102	ENST00000454102	T	0.16073	2.37	4.84	2.41	0.29592	.	.	.	.	.	T	0.09512	0.0234	.	.	.	0.80722	D	1	B	0.13145	0.007	B	0.14023	0.01	T	0.16217	-1.0410	8	0.17832	T	0.49	.	6.5658	0.22511	0.0:0.6954:0.1894:0.1153	.	99	B4DNW2	.	S	99	ENSP00000388531:G99S	ENSP00000388531:G99S	G	-	1	0	AC040160.1	65802206	0.930000	0.31532	1.000000	0.80357	0.557000	0.35523	1.790000	0.38734	0.987000	0.38709	0.561000	0.74099	GGC	AC040160.1	-	NULL	ENSG00000237102		0.627	LRRC29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000237102	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000335073.1	-	0.00	73	0	C	NM_012163		67244705	-1	tier1	-	no_errors	ENST00000454102	ensembl	human	known	74_37	missense	12.68	61	9	SNP	0.825	T
CATIP-AS2	103689911	genome.wustl.edu	37	2	219215890	219215890	+	RNA	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:219215890delT	ENST00000411433.1	-	0	112																											tacccatcgcttttttttttc	0.358																																																	0										38,149,1665		4,0,30,4,141,747	15.0	13.0	14.0				0.2	2		15	90,337,3477		1,1,87,14,308,1541	no	intergenic				5,1,117,18,449,2288	A1A1,A1A2,A1R,A2A2,A2R,RR		10.9375,10.0972,10.6671			219215890	128,486,5142	692	1590	2282			0																															2.37:g.219215890delT				RNA	DEL	-	NULL	ENST00000411433.1	37	NULL		2																																																																																			AC021016.8	-	-	ENSG00000237281		0.358	AC021016.8-001	KNOWN	basic	antisense	ENSG00000237281	Clone_based_vega_gene	antisense	OTTHUMT00000338557.1		0.00	51	0	T			219215890	-1	tier1		no_errors	ENST00000411433	ensembl	human	known	74_37	rna	16.67	45	9	DEL	0.199	-
SSR1	6745	genome.wustl.edu	37	6	7298954	7298954	+	Intron	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:7298954A>G	ENST00000244763.4	-	5	707				SSR1_ENST00000479365.1_Intron|RP11-69L16.4_ENST00000379928.4_RNA|SSR1_ENST00000488834.1_5'Flank|SSR1_ENST00000397511.2_Intron|SSR1_ENST00000489567.1_Intron|SSR1_ENST00000462112.1_Intron|SSR1_ENST00000534851.1_Intron|SSR1_ENST00000474597.1_Intron	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					CAAAATCAAGATCTACATACT	0.363																																																	0													174.0	151.0	159.0					6																	7298954		2203	4299	6502	SO:0001627	intron_variant	0				CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"""translocon-associated protein alpha"""	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.620+25T>C	6.37:g.7298954A>G			A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	RNA	SNP	-	NULL	ENST00000244763.4	37	NULL	CCDS4499.1	6																																																																																			RP11-69L16.4	-	-	ENSG00000238221		0.363	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000238221	Clone_based_vega_gene	protein_coding	OTTHUMT00000039775.2	-	0.00	28	0	A			7298954	+1	tier1	-	no_errors	ENST00000379928	ensembl	human	known	74_37	rna	50.00	9	9	SNP	0.126	G
ACSL6	23305	genome.wustl.edu	37	5	131214658	131214658	+	IGR	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:131214658C>A								FNIP1 (81948 upstream) : AC034228.4 (65442 downstream)																							AGTTATTCTGCTTCAATACTT	0.249																																																	0																																										SO:0001628	intergenic_variant	0																															5.37:g.131214658C>A				RNA	SNP	-	NULL		37	NULL		5																																																																																			AC034228.7	-	-	ENSG00000239642	0	0.249					ENSG00000239642	Clone_based_vega_gene			-	0.00	62	0	C			131214658	-1	tier1	-	no_errors	ENST00000446743	ensembl	human	known	74_37	rna	8.77	52	5	SNP	0.825	A
ACSL6	23305	genome.wustl.edu	37	5	131214681	131214682	+	IGR	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:131214681_131214682insT								FNIP1 (81971 upstream) : AC034228.4 (65418 downstream)																							TTTTTTCTTTGTTTTTTCAGGG	0.257																																																	0																																										SO:0001628	intergenic_variant	0																															5.37:g.131214687_131214687dupT				RNA	INS	-	NULL		37	NULL		5																																																																																			AC034228.7	-	-	ENSG00000239642	0	0.257					ENSG00000239642	Clone_based_vega_gene				0.00	50	0	-			131214682	-1	tier1		no_errors	ENST00000439905	ensembl	human	known	74_37	rna	26.67	33	12	INS	0.868:0.807	T
SLC4A2	6522	genome.wustl.edu	37	7	150772273	150772273	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:150772273C>T	ENST00000485713.1	+	20	4087				SLC4A2_ENST00000413384.2_Intron|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000392826.2_Intron|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000461735.1_Intron|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2						anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGGGCATTCTGGAAAGACC	0.602																																																	0																																										SO:0001627	intron_variant	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3048-69C>T	7.37:g.150772273C>T			B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	RNA	SNP	-	NULL	ENST00000485713.1	37	NULL	CCDS5917.1	7																																																																																			RP11-148K1.12	-	-	ENSG00000244151		0.602	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000244151	Clone_based_vega_gene	protein_coding	OTTHUMT00000351039.1	-	0.00	39	0	C	NM_003040		150772273	-1	tier1	-	no_errors	ENST00000485974	ensembl	human	known	74_37	rna	20.69	23	6	SNP	0.069	T
CYFIP2	26999	genome.wustl.edu	37	5	156811601	156811601	+	Intron	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:156811601delC	ENST00000521420.1	+	27	3220				CYFIP2_ENST00000522463.1_Intron|CTB-47B11.3_ENST00000520658.1_RNA|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000435847.2_Intron|CTB-47B11.3_ENST00000508443.1_RNA|CYFIP2_ENST00000442283.2_Intron					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGGAAGCCACCCCAGCCCGG	0.557																																																	0																																										SO:0001627	intron_variant	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3129+1234C>-	5.37:g.156811601delC				RNA	DEL	-	NULL	ENST00000521420.1	37	NULL		5																																																																																			CTB-47B11.3	-	-	ENSG00000248544		0.557	CYFIP2-001	NOVEL	basic	protein_coding	ENSG00000248544	Clone_based_vega_gene	protein_coding	OTTHUMT00000373710.1		0.00	59	0	C	NM_001037332		156811601	-1	tier1		no_errors	ENST00000508443	ensembl	human	known	74_37	rna	15.38	44	8	DEL	0.000	-
TRIM41	90933	genome.wustl.edu	37	5	180652113	180652113	+	Intron	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:180652113T>C	ENST00000315073.5	+	1	1523				CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Intron|MIR4638_ENST00000581158.1_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTTTCGGGTGAGTCTTAAG	0.488																																																	0																																										SO:0001627	intron_variant	0			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.813+301T>C	5.37:g.180652113T>C			B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	RNA	SNP	-	NULL	ENST00000315073.5	37	NULL	CCDS4466.1	5																																																																																			CTC-338M12.7	-	-	ENSG00000247049		0.488	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000247049	Clone_based_vega_gene	protein_coding	OTTHUMT00000253574.3	-	0.00	66	0	T	NM_201627		180652113	-1	tier1	-	no_errors	ENST00000499096	ensembl	human	known	74_37	rna	25.93	40	14	SNP	0.001	C
PES1P1	345016	genome.wustl.edu	37	4	135248589	135248589	+	lincRNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:135248589C>T	ENST00000515491.1	-	0	15																											AGGAATGGTACCCCACATTCA	0.577																																																	0																																												0																															4.37:g.135248589C>T				RNA	SNP	-	NULL	ENST00000515491.1	37	NULL		4																																																																																			RP11-400D2.2	-	-	ENSG00000251199		0.577	RP11-400D2.2-002	KNOWN	basic	lincRNA	ENSG00000251199	Clone_based_vega_gene	lincRNA	OTTHUMT00000365046.1	-	0.00	48	0	C			135248589	-1	tier1	-	no_errors	ENST00000504728	ensembl	human	known	74_37	rna	14.81	23	4	SNP	1.000	T
NARS2	79731	genome.wustl.edu	37	11	78154811	78154813	+	Intron	DEL	AAA	AAA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:78154811_78154813delAAA	ENST00000281038.5	-	12	1540				NARS2_ENST00000528850.1_Intron|RP11-452H21.1_ENST00000534168.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)						asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CAACCTAAGGAAAAAAAAAAAAT	0.389																																																	0																																										SO:0001627	intron_variant	0			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1165-7TTT>-	11.37:g.78154820_78154822delAAA			G3V178	RNA	DEL	-	NULL	ENST00000281038.5	37	NULL	CCDS8261.1	11																																																																																			RP11-452H21.1	-	-	ENSG00000254420		0.389	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254420	Clone_based_vega_gene	protein_coding	OTTHUMT00000391138.2		0.00	23	0	AAA	NM_024678		78154813	+1	tier1		no_errors	ENST00000534168	ensembl	human	known	74_37	rna	15.15	28	5	DEL	0.000:0.006:0.000	-
PCDHB17	54661	genome.wustl.edu	37	5	140537224	140537224	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140537224G>A	ENST00000539533.1	+	1	1648	c.1648G>A	c.(1648-1650)Gtg>Atg	p.V550M						protocadherin beta 17 pseudogene																		GCTGGTGCGCGTGCTGGTGTG	0.701																																																	0																																										SO:0001583	missense	0			AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1648G>A	5.37:g.140537224G>A	ENSP00000438685:p.Val550Met			Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V550M	ENST00000539533.1	37	c.1648		5	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427219	0.62733	.	.	ENSG00000255622	ENST00000539533	T	0.69685	-0.42	4.99	4.1	0.47936	.	.	.	.	.	T	0.77246	0.4102	.	.	.	.	.	.	D	0.76494	0.999	D	0.63957	0.92	T	0.83339	-0.0009	7	0.66056	D	0.02	.	8.8566	0.35231	0.0799:0.1518:0.7683:0.0	.	550	Q96T98	.	M	550	ENSP00000438685:V550M	ENSP00000438685:V550M	V	+	1	0	AC005754.1	140517408	0.013000	0.17824	0.991000	0.47740	0.945000	0.59286	0.136000	0.15974	1.200000	0.43188	0.556000	0.70494	GTG	PCDHB17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000255622		0.701	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000255622	Uniprot_gn	protein_coding		-	0.00	234	0	G			140537224	+1	tier1	-	no_errors	ENST00000539533	ensembl	human	known	74_37	missense	10.21	211	24	SNP	0.932	A
KCNK4	50801	genome.wustl.edu	37	11	64060487	64060487	+	5'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64060487C>T	ENST00000539216.1	+	0	357				KCNK4_ENST00000422670.2_5'UTR|KCNK4_ENST00000394525.2_5'UTR|KCNK4_ENST00000539651.1_Intron|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Intron			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CGCCTGGGCGCGCCATGCGCA	0.726																																																	0													13.0	15.0	14.0					11																	64060487		1791	3313	5104	SO:0001623	5_prime_UTR_variant	0			AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.-4C>T	11.37:g.64060487C>T			B5TJL1|Q96T94	RNA	SNP	-	NULL	ENST00000539216.1	37	NULL	CCDS8067.1	11																																																																																			RP11-783K16.10	-	-	ENSG00000257069		0.726	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000257069	Clone_based_vega_gene	protein_coding	OTTHUMT00000396430.1	-	0.00	93	0	C	NM_033311		64060487	+1	tier1	-	no_errors	ENST00000539086	ensembl	human	known	74_37	rna	20.51	61	16	SNP	0.983	T
KCNC2	3747	genome.wustl.edu	37	12	75435916	75435916	+	3'UTR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:75435916delA	ENST00000549446.1	-	0	3566				RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000298972.1_Intron|RP11-81K13.1_ENST00000549762.1_RNA|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548513.1_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	ataaGGGGGTAAAAAAAAGAC	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*969T>-	12.37:g.75435916delA			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	RNA	DEL	-	NULL	ENST00000549446.1	37	NULL	CCDS9007.1	12																																																																																			RP11-81K13.1	-	-	ENSG00000257434		0.338	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000257434	Clone_based_vega_gene	protein_coding	OTTHUMT00000405581.2		0.00	12	0	A	NM_153748		75435916	+1	tier1		no_errors	ENST00000547040	ensembl	human	known	74_37	rna	17.65	14	3	DEL	0.025	-
MGAM2	93432	genome.wustl.edu	37	7	141899767	141899767	+	Splice_Site	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:141899767T>C	ENST00000477922.3	+	45	5190	c.5136T>C	c.(5134-5136)atT>atC	p.I1712I																	endometrium(1)|lung(5)	6						GACAAAGCATTGGTGAGTATA	0.418																																																	0																																										SO:0001630	splice_region_variant	0																														ENST00000477922.3:c.5137+1T>C	7.37:g.141899767T>C				Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil	p.I1712	ENST00000477922.3	37	c.5136		7																																																																																			RP11-1220K2.2	-	NULL	ENSG00000257743		0.418	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	-	0.00	117	0	T		Silent	141899767	+1	tier1	-	no_errors	ENST00000477922	ensembl	human	putative	74_37	silent	11.11	80	10	SNP	0.979	C
MGAM2	93432	genome.wustl.edu	37	7	141920622	141920624	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:141920622_141920624delCTT	ENST00000477922.3	+	48	6365_6367	c.6311_6313delCTT	c.(6310-6315)ccttct>cct	p.S2105del																	endometrium(1)|lung(5)	6						TCAGTGACTCCTTCTCTGACAAG	0.404																																																	0																																										SO:0001651	inframe_deletion	0																														ENST00000477922.3:c.6311_6313delCTT	7.37:g.141920622_141920624delCTT	ENSP00000420449:p.Ser2105del			In_Frame_Del	DEL	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil	p.S2105in_frame_del	ENST00000477922.3	37	c.6311_6313		7																																																																																			RP11-1220K2.2	-	NULL	ENSG00000257743		0.404	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3		0.00	54	0	CTT			141920624	+1	tier1		no_errors	ENST00000477922	ensembl	human	putative	74_37	in_frame_del	29.41	24	10	DEL	0.003:0.001:0.000	-
RP11-467N20.5	0	genome.wustl.edu	37	15	23406344	23406344	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:23406344C>T	ENST00000558241.1	-	8	2582	c.2492G>A	c.(2491-2493)cGg>cAg	p.R831Q																	endometrium(1)	1						ctcctgcctccgcatcttctc	0.562																																																	0																																										SO:0001583	missense	0																														ENST00000558241.1:c.2492G>A	15.37:g.23406344C>T	ENSP00000453436:p.Arg831Gln			Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.R831Q	ENST00000558241.1	37	c.2492		15																																																																																			RP11-467N20.5	-	NULL	ENSG00000259455		0.562	RP11-467N20.5-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000259455	Clone_based_vega_gene	protein_coding	OTTHUMT00000415942.1	-	0.00	49	0	C			23406344	-1	tier1	-	no_errors	ENST00000558241	ensembl	human	novel	74_37	missense	12.50	42	6	SNP	0.370	T
ENTHD2	146705	genome.wustl.edu	37	17	79204524	79204524	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:79204524C>T	ENST00000300714.3	-	11	952				AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000374769.2_Intron	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2							cytoplasmic vesicle (GO:0031410)											GGCAGCAGGTCCACGCCAGGG	0.652											OREG0024811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													13.0	15.0	14.0					17																	79204524		2196	4293	6489	SO:0001627	intron_variant	0			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.895-46G>A	17.37:g.79204524C>T		1189	Q6ZQU0|Q6ZSQ9	RNA	SNP	-	NULL	ENST00000300714.3	37	NULL	CCDS11779.1	17																																																																																			AC027601.1	-	-	ENSG00000260005		0.652	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260005	Clone_based_vega_gene	protein_coding	OTTHUMT00000439315.1	-	0.00	86	0	C	NM_144679		79204524	+1	tier1	-	no_errors	ENST00000575922	ensembl	human	known	74_37	rna	14.29	66	11	SNP	0.000	T
RP11-1166P10.1	0	genome.wustl.edu	37	16	31993273	31993273	+	RNA	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:31993273G>A	ENST00000568570.1	+	0	83																											GCAAGGAgcggcgggagcccg	0.746																																																	0																																												0																															16.37:g.31993273G>A				RNA	SNP	-	NULL	ENST00000568570.1	37	NULL		16																																																																																			RP11-1166P10.1	-	-	ENSG00000260628		0.746	RP11-1166P10.1-002	KNOWN	basic	processed_transcript	ENSG00000260628	Clone_based_vega_gene	pseudogene	OTTHUMT00000432457.1	-	0.00	93	0	G			31993273	+1	tier1	-	no_errors	ENST00000568570	ensembl	human	known	74_37	rna	16.95	49	10	SNP	1.000	A
SALL1	6299	genome.wustl.edu	37	16	51183171	51183171	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:51183171delT	ENST00000251020.4	-	1	110				SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_Intron|AC009166.5_ENST00000570060.1_RNA|SALL1_ENST00000440970.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1						adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGCCGAGACTTTTTTTTTTT	0.318																																					GBM(103;1352 1446 1855 4775 8890)												0																																										SO:0001627	intron_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.76+1905A>-	16.37:g.51183171delT			Q99881|Q9NSC3|Q9P1R0	RNA	DEL	-	NULL	ENST00000251020.4	37	NULL	CCDS10747.1	16																																																																																			AC009166.5	-	-	ENSG00000261238		0.318	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261238	Clone_based_vega_gene	protein_coding	OTTHUMT00000256883.2		0.00	17	0	T	NM_002968		51183171	+1	tier1		no_errors	ENST00000570060	ensembl	human	known	74_37	rna	48.15	14	13	DEL	0.007	-
ITPRIPL2	162073	genome.wustl.edu	37	16	19132370	19132371	+	3'UTR	DEL	TT	TT	-	rs75467685		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:19132370_19132371delTT	ENST00000381440.3	+	0	7117_7118				CTD-2349B8.1_ENST00000564808.2_Intron|RP11-626G11.3_ENST00000567236.1_RNA	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2							integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CATTCGTTAGTTTTTTTTTTTT	0.366																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.*4980TT>-	16.37:g.19132380_19132381delTT				RNA	DEL	-	NULL	ENST00000381440.3	37	NULL	CCDS32395.1	16																																																																																			RP11-626G11.3	-	-	ENSG00000261759		0.366	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261759	Clone_based_vega_gene	protein_coding	OTTHUMT00000435827.3		0.00	45	0	TT	NM_001034841		19132371	-1	tier1		no_errors	ENST00000567236	ensembl	human	known	74_37	rna	14.00	43	7	DEL	0.985:0.987	-
LINC00662	148189	genome.wustl.edu	37	19	28248495	28248495	+	lincRNA	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:28248495delA	ENST00000562493.1	-	0	3262																											TTAAAGTGTGAAAAAAAAaga	0.353																																																	0																																												0																															19.37:g.28248495delA				RNA	DEL	-	NULL	ENST00000562493.1	37	NULL		19																																																																																			CTC-459F4.1	-	-	ENSG00000261770		0.353	CTC-459F4.1-001	KNOWN	basic	lincRNA	ENSG00000261770	Clone_based_vega_gene	lincRNA	OTTHUMT00000431028.1		0.00	20	0	A			28248495	-1	tier1		no_errors	ENST00000562493	ensembl	human	known	74_37	rna	19.05	17	4	DEL	0.809	-
SMTNL2	342527	genome.wustl.edu	37	17	4514128	4514128	+	IGR	SNP	G	G	T	rs140374506		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:4514128G>T	ENST00000389313.4	+	0	2280				RP11-141J13.5_ENST00000573270.1_lincRNA	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2											breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		ACAAGGTCCAGGTAGGTGGGA	0.552																																																	0																																										SO:0001628	intergenic_variant	0			AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938		17.37:g.4514128G>T			Q6ZVK6	RNA	SNP	-	NULL	ENST00000389313.4	37	NULL	CCDS45583.1	17																																																																																			RP11-141J13.5	-	-	ENSG00000261863		0.552	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261863	Clone_based_vega_gene	protein_coding	OTTHUMT00000439129.1	-	0.00	36	0	G	NM_198501		4514128	+1	tier1	-	no_errors	ENST00000573270	ensembl	human	known	74_37	rna	20.00	28	7	SNP	0.000	T
C1QBP	708	genome.wustl.edu	37	17	5334805	5334806	+	IGR	DEL	AA	AA	-	rs183904601		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:5334805_5334806delAA	ENST00000225698.4	-	0	1169				RPAIN_ENST00000381209.3_Intron|RPAIN_ENST00000327154.6_Intron|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000381208.5_Intron|RPAIN_ENST00000536255.2_Intron	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	attgtgccttaaaaaaaaaaaa	0.475																																																	0																																										SO:0001628	intergenic_variant	0			X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021			17.37:g.5334815_5334816delAA			Q2HXR8|Q9NNY8	RNA	DEL	-	NULL	ENST00000225698.4	37	NULL	CCDS11071.1	17																																																																																			CTC-524C5.2	-	-	ENSG00000263272		0.475	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263272	Clone_based_vega_gene	protein_coding	OTTHUMT00000439388.1		0.00	21	0	AA	NM_001212		5334806	-1	tier1		no_errors	ENST00000575890	ensembl	human	known	74_37	rna	20.00	12	3	DEL	0.001:0.002	-
RP11-454P7.3	0	genome.wustl.edu	37	18	15197707	15197707	+	RNA	SNP	G	G	A	rs556866069		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:15197707G>A	ENST00000581666.1	-	0	21																											CGCAGCTCCCGCATCACCCCC	0.692													.|||	1	0.000199681	0.0	0.0	5008	,	,		11319	0.0		0.0	False		,,,				2504	0.001																0																																												0																															18.37:g.15197707G>A				RNA	SNP	-	NULL	ENST00000581666.1	37	NULL		18																																																																																			RP11-454P7.3	-	-	ENSG00000265015		0.692	RP11-454P7.3-002	KNOWN	basic	processed_transcript	ENSG00000265015	Clone_based_vega_gene	pseudogene	OTTHUMT00000443412.1	-	0.00	22	0	G			15197707	-1	tier1	-	no_errors	ENST00000581666	ensembl	human	known	74_37	rna	28.00	18	7	SNP	0.998	A
MTAP	4507	genome.wustl.edu	37	9	21861903	21861904	+	Intron	DEL	TT	TT	-	rs11356405|rs67222036	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:21861903_21861904delTT	ENST00000460874.2	+	8	1089				MTAP_ENST00000380172.4_Intron|RP11-70L8.4_ENST00000581788.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Intron					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		TCAAAATCTGTTTTTTTTTTTA	0.327																																																	2	Whole gene deletion(2)	lung(2)								38,2,537,3687		0,0,0,38,0,2,0,40,455,1597						-0.2	0.0		dbSNP_120	63	87,14,283,7870		0,0,0,87,6,0,2,13,257,3762	no	intron	MTAP	NM_002451.3		0,0,0,125,6,2,2,53,712,5359	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.6523,13.5319,7.6769				125,16,820,11557				SO:0001627	intron_variant	0			AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"""S-methyl-5'-thioadenosine phosphorylase"""	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.865-71TT>-	9.37:g.21861911_21861912delTT				RNA	DEL	-	NULL	ENST00000460874.2	37	NULL		9																																																																																			RP11-70L8.4	-	-	ENSG00000265194		0.327	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	ENSG00000265194	Clone_based_vega_gene	protein_coding	OTTHUMT00000051929.2		0.00	21	0	TT	NM_002451		21861904	-1	tier1		no_errors	ENST00000581788	ensembl	human	known	74_37	rna	22.58	24	7	DEL	0.000:0.000	-
YPEL2	388403	genome.wustl.edu	37	17	57477848	57477849	+	3'UTR	DEL	TT	TT	-	rs3835025	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:57477848_57477849delTT	ENST00000312655.4	+	0	3975_3976				RP11-567L7.5_ENST00000585190.1_RNA	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)							nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATGTTTTCAGTTTTTTTTTTTT	0.342																																					Melanoma(86;1113 1364 8518 42220 42625)												0																																										SO:0001624	3_prime_UTR_variant	0			AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.*3298TT>-	17.37:g.57477858_57477859delTT			A0PK16|A2RUG4|Q65ZA0|Q8N3W2	RNA	DEL	-	NULL	ENST00000312655.4	37	NULL	CCDS32695.1	17																																																																																			RP11-567L7.5	-	-	ENSG00000266002		0.342	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266002	Clone_based_vega_gene	protein_coding	OTTHUMT00000446032.1		0.00	73	0	TT	XM_371070		57477849	-1	tier1		no_errors	ENST00000585190	ensembl	human	known	74_37	rna	15.73	75	14	DEL	0.648:0.971	-
ZNF66	7617	genome.wustl.edu	37	19	20988370	20988370	+	Intron	DEL	T	T	-	rs556849654|rs34028361	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:20988370delT	ENST00000344519.8	+	4	249				AC010329.1_ENST00000582722.1_RNA|ZNF66_ENST00000425625.1_Intron			Q6ZN08	ZNF66_HUMAN	zinc finger protein 66						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTAACAGACTTTTTTTTTTT	0.373													|||unknown(NO_COVERAGE)	562	0.11222	0.152	0.0908	5008	,	,		18132	0.0506		0.1213	False		,,,				2504	0.1278																0																																										SO:0001627	intron_variant	0			M88375		19p12	2013-03-06	2013-03-06	2013-03-06	ENSG00000160229	ENSG00000160229			13135	other	unknown			"""zinc finger protein 66, pseudogene"""	ZNF66P		1505991	Standard	NG_023377		Approved	FLJ16537	uc002npe.3	Q6ZN08	OTTHUMG00000167735	ENST00000344519.8:c.227-263T>-	19.37:g.20988370delT			I3L4P5|Q15939	RNA	DEL	-	NULL	ENST00000344519.8	37	NULL		19																																																																																			AC010329.1	-	-	ENSG00000266156		0.373	ZNF66-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000266156	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000395955.2		0.00	27	0	T	NG_023377		20988370	+1	tier1		no_errors	ENST00000582722	ensembl	human	novel	74_37	rna	45.00	11	9	DEL	0.001	-
MAGEA5	4104	genome.wustl.edu	37	X	151283730	151283730	+	RNA	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:151283730G>A	ENST00000509345.2	-	0	606																											GAGGTGCTTGGCCCCTCCTCT	0.527																																																	0													92.0	85.0	88.0					X																	151283730		2203	4300	6503			0																															X.37:g.151283730G>A				RNA	SNP	-	NULL	ENST00000509345.2	37	NULL		X																																																																																			RP11-1007I13.4	-	-	ENSG00000266560		0.527	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000266560	Clone_based_vega_gene	processed_transcript	OTTHUMT00000445981.1	-	0.00	77	0	G			151283730	-1	tier1	-	no_errors	ENST00000509345	ensembl	human	known	74_37	rna	17.31	43	9	SNP	0.000	A
TBC1D3P3	653017	genome.wustl.edu	37	17	20452595	20452595	+	lincRNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:20452595C>T	ENST00000591705.1	+	0	3912																											CCAGTCCCTACGTCCCTGGAC	0.647																																																	0																																												0																															17.37:g.20452595C>T				RNA	SNP	-	NULL	ENST00000591705.1	37	NULL		17																																																																																			RP11-434D2.3	-	-	ENSG00000267075		0.647	RP11-434D2.3-001	KNOWN	basic	lincRNA	ENSG00000267075	Clone_based_vega_gene	lincRNA	OTTHUMT00000441761.2	-	0.00	46	0	C			20452595	+1	tier1	-	no_errors	ENST00000591705	ensembl	human	known	74_37	rna	15.38	33	6	SNP	0.081	T
PARD6G	84552	genome.wustl.edu	37	18	77927006	77927006	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:77927006C>T	ENST00000353265.3	-	3	493				AC139100.2_ENST00000586421.1_3'UTR|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_3'UTR|AC139100.2_ENST00000587254.1_Missense_Mutation_p.A97V	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma						cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		AGGAAGGTGGCTGTGCATGCC	0.647																																																	0																																										SO:0001627	intron_variant	0				CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.296-8517G>A	18.37:g.77927006C>T			A8QM57	Missense_Mutation	SNP	NULL	p.A97V	ENST00000353265.3	37	c.290	CCDS12022.1	18																																																																																			AC139100.2	-	NULL	ENSG00000267270		0.647	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267270	Clone_based_vega_gene	protein_coding	OTTHUMT00000256435.2		0.00	42	0	C	NM_032510		77927006	+1			no_errors	ENST00000587254	ensembl	human	putative	74_37	missense	8.57	31	3	SNP	0.000	T
SLFN12L	100506736	genome.wustl.edu	37	17	33805073	33805073	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:33805073C>T	ENST00000260908.7	-	3	1322				RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Intron|SLFN12L_ENST00000449046.1_Intron	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AACAACTCCACGGAAGCCAGA	0.383																																																	0													80.0	72.0	74.0					17																	33805073		692	1591	2283	SO:0001627	intron_variant	0			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1204+20G>A	17.37:g.33805073C>T			F5H6G3	RNA	SNP	-	NULL	ENST00000260908.7	37	NULL	CCDS56026.1	17																																																																																			RP11-686D22.9	-	-	ENSG00000267349		0.383	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	ENSG00000267349	Clone_based_vega_gene	protein_coding	OTTHUMT00000395748.2	-	0.00	58	0	C	XM_496206		33805073	+1	tier1	-	no_errors	ENST00000587076	ensembl	human	known	74_37	rna	25.00	36	12	SNP	0.002	T
MLLT1	4298	genome.wustl.edu	37	19	6211915	6211915	+	IGR	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6211915G>A	ENST00000252674.7	-	0	1931				CTC-503J8.6_ENST00000586154.1_lincRNA|MLLT1_ENST00000585588.1_5'Flank	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1						negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGCCGGGGCGGGCCAGGCCG	0.721			T	MLL	AL																																			Dom	yes		19	19p13.3	4298	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""		L	0																																										SO:0001628	intergenic_variant	0				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757		19.37:g.6211915G>A			Q14768	RNA	SNP	-	NULL	ENST00000252674.7	37	NULL	CCDS12160.1	19																																																																																			CTC-503J8.6	-	-	ENSG00000267427		0.721	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267427	Clone_based_vega_gene	protein_coding	OTTHUMT00000452909.1		0.00	26	0	G	NM_005934		6211915	-1			no_errors	ENST00000586154	ensembl	human	known	74_37	rna	31.58	13	6	SNP	0.003	A
DDX52	11056	genome.wustl.edu	37	17	36003288	36003288	+	Intron	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:36003288delC	ENST00000349699.2	-	1	131				RP11-697E22.2_ENST00000586163.1_RNA|DDX52_ENST00000394367.3_Intron|RP11-697E22.2_ENST00000586950.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GCGCCGGCCTCCCCCAGCAGC	0.627																																																	0																																										SO:0001627	intron_variant	0			AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.87+74G>-	17.37:g.36003288delC			Q86YG1|Q8N213|Q9NVE0|Q9Y482	RNA	DEL	-	NULL	ENST00000349699.2	37	NULL	CCDS11323.1	17																																																																																			RP11-697E22.2	-	-	ENSG00000267668		0.627	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267668	Clone_based_vega_gene	protein_coding	OTTHUMT00000256795.1		0.00	115	0	C	NM_152300		36003288	+1	tier1		no_errors	ENST00000586163	ensembl	human	known	74_37	rna	13.10	73	11	DEL	0.006	-
SH3GL1	6455	genome.wustl.edu	37	19	4363922	4363922	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4363922C>T	ENST00000269886.3	-	6	644				SH3GL1_ENST00000417295.2_Intron|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Intron	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GCCAGAGGGCCGCCCCACGCA	0.647			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													18.0	20.0	19.0					19																	4363922		2194	4289	6483	SO:0001627	intron_variant	0				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.466-47G>A	19.37:g.4363922C>T			B4DRA1|E7EVZ4|M0QZV5|Q99668	RNA	SNP	-	NULL	ENST00000269886.3	37	NULL	CCDS32874.1	19																																																																																			AC007292.6	-	-	ENSG00000267980		0.647	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267980	Clone_based_vega_gene	protein_coding	OTTHUMT00000458302.1	-	0.00	31	0	C	NM_003025		4363922	+1	tier1	-	no_errors	ENST00000594444	ensembl	human	known	74_37	rna	15.91	37	7	SNP	0.000	T
ELMOD1	55531	genome.wustl.edu	37	11	107462517	107462517	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:107462517C>T	ENST00000265840.7	+	1	180				ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000531234.1_Intron|AP000889.3_ENST00000600612.1_Nonsense_Mutation_p.R12*	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CTGGCTGGGGCGAGGGGCTGG	0.706																																																	0													9.0	13.0	12.0					11																	107462517		1659	3731	5390	SO:0001627	intron_variant	0			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.-86+382C>T	11.37:g.107462517C>T			B4E167|G5E9S5|Q9NPW3	Nonsense_Mutation	SNP	NULL	p.R12*	ENST00000265840.7	37	c.34	CCDS44723.1	11																																																																																			AP000889.3	-	NULL	ENSG00000268467		0.706	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000268467	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000389406.1	-	0.00	93	0	C	NM_018712		107462517	+1	tier1	-	no_errors	ENST00000600612	ensembl	human	known	74_37	nonsense	11.84	67	9	SNP	0.001	T
MPND	84954	genome.wustl.edu	37	19	4357451	4357452	+	Intron	INS	-	-	G	rs377009017		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4357451_4357452insG	ENST00000262966.8	+	9	1232				MPND_ENST00000599840.1_Intron|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Intron	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing								peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGCAAGGAGGGGGGATGCT	0.678																																																	0																																										SO:0001627	intron_variant	0				CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1165+33->G	19.37:g.4357457_4357457dupG			Q96SJ0|Q9Y2P1|Q9Y2P2	RNA	INS	-	NULL	ENST00000262966.8	37	NULL	CCDS42470.1	19																																																																																			AC007292.3	-	-	ENSG00000269318		0.678	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000269318	Clone_based_vega_gene	protein_coding	OTTHUMT00000458292.1		0.00	96	0	-	NM_032868		4357452	-1	tier1		no_errors	ENST00000593524	ensembl	human	known	74_37	rna	10.98	73	9	INS	0.002:0.000	G
LAIR1	3903	genome.wustl.edu	37	19	54864064	54864064	+	IGR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:54864064C>T	ENST00000391742.2	-	0	1610				CTD-2587H19.1_ENST00000596234.1_lincRNA			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CTGGCCCCTGCGTTGGGCGGG	0.547																																																	0													119.0	126.0	124.0					19																	54864064		692	1591	2283	SO:0001628	intergenic_variant	0			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545		19.37:g.54864064C>T				RNA	SNP	-	NULL	ENST00000391742.2	37	NULL	CCDS12891.1	19																																																																																			CTD-2587H19.1	-	-	ENSG00000268802		0.547	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000268802	Clone_based_vega_gene	protein_coding	OTTHUMT00000140506.1	-	0.00	70	0	C			54864064	-1	tier1	-	no_errors	ENST00000596234	ensembl	human	known	74_37	rna	9.52	38	4	SNP	0.000	T
CCDC85A	114800	genome.wustl.edu	37	2	56612188	56612188	+	3'UTR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:56612188delT	ENST00000407595.2	+	0	2862				RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A											breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAAATATATCTTTTTTTTTCA	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.*698T>-	2.37:g.56612188delT				RNA	DEL	-	NULL	ENST00000407595.2	37	NULL	CCDS46290.1	2																																																																																			RP11-482H16.1	-	-	ENSG00000271894		0.328	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000271894	Clone_based_vega_gene	protein_coding	OTTHUMT00000324993.1		0.00	59	0	T			56612188	+1	tier1		no_errors	ENST00000607540	ensembl	human	known	74_37	rna	11.32	47	6	DEL	0.005	-
CEBPZ	10153	genome.wustl.edu	37	2	37438027	37438027	+	Intron	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:37438027delC	ENST00000234170.5	-	13	3030				AC007390.5_ENST00000397064.2_Intron|RP11-423P10.2_ENST00000606229.1_RNA	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTAAAAAGAACCCCCCCCACC	0.313																																																	0																																										SO:0001627	intron_variant	0			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2884+114G>-	2.37:g.37438027delC			Q8NE75	RNA	DEL	-	NULL	ENST00000234170.5	37	NULL	CCDS1787.1	2																																																																																			RP11-423P10.2	-	-	ENSG00000272054		0.313	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272054	Clone_based_vega_gene	protein_coding	OTTHUMT00000218569.2		0.00	41	0	C	NM_005760		37438027	+1	tier1		no_errors	ENST00000606229	ensembl	human	known	74_37	rna	22.73	34	10	DEL	0.000	-
LOC102723968	102723968	genome.wustl.edu	37	13	64412096	64412096	+	lincRNA	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:64412096delC	ENST00000607822.1	-	0	2159				RP11-394A14.4_ENST00000606894.1_lincRNA																							agcccctcttcccccctggct	0.706																																																	0																																												0																															13.37:g.64412096delC				RNA	DEL	-	NULL	ENST00000607822.1	37	NULL		13																																																																																			RP11-394A14.4	-	-	ENSG00000272299		0.706	RP11-394A14.2-002	KNOWN	basic	lincRNA	ENSG00000272299	Clone_based_vega_gene	lincRNA	OTTHUMT00000471084.1		0.00	9	0	C			64412096	-1			no_errors	ENST00000606894	ensembl	human	known	74_37	rna	30.77	9	4	DEL	0.188	0
MIA3	375056	genome.wustl.edu	37	1	222833383	222833383	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:222833383delT	ENST00000344922.5	+	23	5000				MIA3_ENST00000340535.7_Intron|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Intron|RP11-378J18.8_ENST00000608771.1_RNA	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3						chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAACAATCTGTTTTTTGATGT	0.368																																																	0													38.0	36.0	37.0					1																	222833383		1834	4087	5921	SO:0001627	intron_variant	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4975+35T>-	1.37:g.222833383delT			A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	RNA	DEL	-	NULL	ENST00000344922.5	37	NULL	CCDS41470.1	1																																																																																			RP11-378J18.8	-	-	ENSG00000272750		0.368	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000272750	Clone_based_vega_gene	protein_coding	OTTHUMT00000091489.4		0.00	12	0	T	NM_198551		222833383	-1	tier1		no_errors	ENST00000608771	ensembl	human	known	74_37	rna	20.00	20	5	DEL	0.000	-
RP11-440D17.3	0	genome.wustl.edu	37	2	96191107	96191107	+	lincRNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:96191107C>T	ENST00000609975.1	-	0	1343				AC009237.8_ENST00000608013.1_RNA																							GTGCTGCTGGCTGGGACCCGG	0.736																																																	0																																												0																															2.37:g.96191107C>T				RNA	SNP	-	NULL	ENST00000609975.1	37	NULL		2																																																																																			RP11-440D17.3	-	-	ENSG00000272913		0.736	RP11-440D17.3-001	KNOWN	basic	lincRNA	ENSG00000272913	Clone_based_vega_gene	lincRNA	OTTHUMT00000472064.1	-	0.00	33	0	C			96191107	-1	tier1	-	no_errors	ENST00000609975	ensembl	human	known	74_37	rna	32.14	19	9	SNP	0.806	T
ARHGAP24	83478	genome.wustl.edu	37	4	86921610	86921610	+	Intron	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:86921610delC	ENST00000395184.1	+	10	2469				ARHGAP24_ENST00000264343.4_Intron|ARHGAP24_ENST00000395183.2_Intron|RP13-514E23.2_ENST00000610225.1_RNA	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCACCCCCCACCCCCCCCAAC	0.408																																																	0													51.0	46.0	48.0					4																	86921610		2162	4242	6404	SO:0001627	intron_variant	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.2004-22C>-	4.37:g.86921610delC			Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	RNA	DEL	-	NULL	ENST00000395184.1	37	NULL	CCDS34025.1	4																																																																																			RP13-514E23.2	-	-	ENSG00000273389		0.408	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000273389	Clone_based_vega_gene	protein_coding	OTTHUMT00000252815.2		0.00	108	0	C	NM_031305		86921610	-1	tier1		no_errors	ENST00000610225	ensembl	human	known	74_37	rna	16.30	113	22	DEL	0.001	-
PPP2R3A	5523	genome.wustl.edu	37	3	135806703	135806704	+	Intron	DEL	TT	TT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:135806703_135806704delTT	ENST00000264977.3	+	9	3405				PPP2R3A_ENST00000334546.2_Intron|RP11-305O4.3_ENST00000608883.1_RNA|PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha						eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCTTTGCAATTTTTTTTTTAT	0.337																																																	0																																										SO:0001627	intron_variant	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2789-21TT>-	3.37:g.135806711_135806712delTT			A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	RNA	DEL	-	NULL	ENST00000264977.3	37	NULL	CCDS3087.1	3																																																																																			RP11-305O4.3	-	-	ENSG00000273455		0.337	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000273455	Clone_based_vega_gene	protein_coding	OTTHUMT00000357232.1		0.00	63	0	TT	NM_002718		135806704	-1	tier1		no_errors	ENST00000608883	ensembl	human	known	74_37	rna	29.23	46	19	DEL	0.004:0.002	-
ENTPD7	57089	genome.wustl.edu	37	10	101458440	101458440	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:101458440G>A	ENST00000370489.4	+	10	1338	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	387						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCAATGCTGAGCCCCCTGCTG	0.557																																																	0													100.0	89.0	93.0					10																	101458440		2203	4300	6503	SO:0001583	missense	0			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1160G>A	10.37:g.101458440G>A	ENSP00000359520:p.Ser387Asn		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.S387N	ENST00000370489.4	37	c.1160	CCDS7480.1	10	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972206	0.34754	.	.	ENSG00000198018	ENST00000370489	T	0.11712	2.75	4.79	2.76	0.32466	.	0.509087	0.23048	N	0.052539	T	0.10423	0.0255	L	0.49778	1.585	0.29427	N	0.860121	B	0.26318	0.146	B	0.32583	0.148	T	0.13019	-1.0525	10	0.21540	T	0.41	-19.3297	6.9697	0.24642	0.3392:0.0:0.6608:0.0	.	387	Q9NQZ7	ENTP7_HUMAN	N	387	ENSP00000359520:S387N	ENSP00000359520:S387N	S	+	2	0	ENTPD7	101448430	0.943000	0.32029	1.000000	0.80357	0.941000	0.58515	0.675000	0.25232	1.245000	0.43885	0.655000	0.94253	AGC	ENTPD7	-	pfam_GDA1_CD39_NTPase	ENSG00000198018		0.557	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD7	HGNC	protein_coding	OTTHUMT00000049809.2	-	0.00	60	0	G	NM_020354		101458440	+1	tier1	-	no_errors	ENST00000370489	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.998	A
EP300	2033	genome.wustl.edu	37	22	41513396	41513396	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:41513396A>G	ENST00000263253.7	+	2	1519	c.300A>G	c.(298-300)ccA>ccG	p.P100P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	100	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGGTGGCCCAGGTCAAGTCA	0.493			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													97.0	94.0	95.0					22																	41513396		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.300A>G	22.37:g.41513396A>G			B1AKC2	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P100	ENST00000263253.7	37	c.300	CCDS14010.1	22																																																																																			EP300	-	NULL	ENSG00000100393		0.493	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0.00	61	0	A	NM_001429		41513396	+1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.995	G
EP400	57634	genome.wustl.edu	37	12	132497561	132497561	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:132497561C>G	ENST00000333577.4	+	18	3666	c.3557C>G	c.(3556-3558)gCc>gGc	p.A1186G	EP400_ENST00000389561.2_Missense_Mutation_p.A1150G|EP400_ENST00000389562.2_Missense_Mutation_p.A1149G|EP400_ENST00000330386.6_Missense_Mutation_p.A1150G|EP400_ENST00000332482.4_Missense_Mutation_p.A1113G			Q96L91	EP400_HUMAN	E1A binding protein p400	1186	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGTGGGCCGAACCCAAC	0.562																																																	0													91.0	73.0	79.0					12																	132497561		2203	4300	6503	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3557C>G	12.37:g.132497561C>G	ENSP00000333602:p.Ala1186Gly		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A1186G	ENST00000333577.4	37	c.3557		12	.	.	.	.	.	.	.	.	.	.	C	9.334	1.061341	0.19987	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	5.27	5.27	0.74061	.	0.996974	0.08135	N	0.992565	D	0.87589	0.6215	N	0.17248	0.465	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.76782	-0.2832	10	0.72032	D	0.01	.	8.3237	0.32145	0.1556:0.7661:0.0:0.0783	.	1150;1150;1149	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	G	1186;1150;1149;1113;1150;1150;1150	ENSP00000333602:A1186G;ENSP00000374212:A1150G;ENSP00000374213:A1149G;ENSP00000331737:A1113G;ENSP00000330620:A1150G	ENSP00000330620:A1150G	A	+	2	0	EP400	131063514	0.000000	0.05858	0.353000	0.25747	0.887000	0.51463	0.218000	0.17622	2.443000	0.82685	0.549000	0.68633	GCC	EP400	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000183495		0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		-	0.00	48	0	C	NM_015409		132497561	+1	tier1	-	no_errors	ENST00000333577	ensembl	human	known	74_37	missense	10.34	52	6	SNP	0.030	G
EPAS1	2034	genome.wustl.edu	37	2	46608780	46608780	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:46608780G>A	ENST00000263734.3	+	13	2601	c.2091G>A	c.(2089-2091)ccG>ccA	p.P697P		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	697					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTGAGTCCGGCCATGGTAG	0.607																																																	0													54.0	54.0	54.0					2																	46608780		2203	4300	6503	SO:0001819	synonymous_variant	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2091G>A	2.37:g.46608780G>A			Q86VA2|Q99630	Silent	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.P697	ENST00000263734.3	37	c.2091	CCDS1825.1	2																																																																																			EPAS1	-	NULL	ENSG00000116016		0.607	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	-	0.00	48	0	G	NM_001430		46608780	+1	tier1	-	no_errors	ENST00000263734	ensembl	human	known	74_37	silent	15.25	50	9	SNP	0.090	A
EPB41	2035	genome.wustl.edu	37	1	29445784	29445784	+	3'UTR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:29445784delT	ENST00000343067.4	+	0	5182				EPB41_ENST00000356093.2_3'UTR|EPB41_ENST00000398863.2_3'UTR|EPB41_ENST00000460378.1_3'UTR|EPB41_ENST00000373798.1_3'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1						actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATTGTTTGGATTTTTTTTCTT	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.*2460T>-	1.37:g.29445784delT			B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	RNA	DEL	-	NULL	ENST00000343067.4	37	NULL	CCDS53288.1	1																																																																																			EPB41	-	-	ENSG00000159023		0.453	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1		0.00	61	0	T	NM_203342		29445784	+1	tier1		no_errors	ENST00000460378	ensembl	human	known	74_37	rna	30.16	44	19	DEL	0.590	-
EPB41L3	23136	genome.wustl.edu	37	18	5406823	5406823	+	Missense_Mutation	SNP	C	C	T	rs558098862		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:5406823C>T	ENST00000341928.2	-	16	2642	c.2302G>A	c.(2302-2304)Gcc>Acc	p.A768T	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A40T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A40T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A599T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A587T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A587T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A768T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	768	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A768S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCTGCCTGGCGGCCAGTCGC	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)											120.0	100.0	107.0					18																	5406823		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2302G>A	18.37:g.5406823C>T	ENSP00000343158:p.Ala768Thr		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.A768T	ENST00000341928.2	37	c.2302	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605429	0.28623	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;D;T;T;T;D	0.82433	-1.42;-1.58;-0.06;-0.07;-1.42;-1.61	6.02	4.98	0.66077	.	0.283151	0.40818	N	0.001004	D	0.86802	0.6020	L	0.60455	1.87	0.34986	D	0.754539	P;D;D;P;P;P;P;D	0.89917	0.921;1.0;1.0;0.9;0.826;0.524;0.731;0.971	B;D;D;B;B;B;B;B	0.87578	0.361;0.993;0.998;0.349;0.238;0.155;0.139;0.298	D	0.83537	0.0094	10	0.09084	T	0.74	.	12.5199	0.56054	0.0:0.8598:0.0:0.1402	.	599;40;40;160;478;587;768;40	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	T	768;478;599;478;40;40;768;587	ENSP00000343158:A768T;ENSP00000441174:A599T;ENSP00000392195:A40T;ENSP00000442233:A40T;ENSP00000341138:A768T;ENSP00000382981:A587T	ENSP00000343158:A768T	A	-	1	0	EPB41L3	5396823	0.513000	0.26194	0.973000	0.42090	0.716000	0.41182	0.855000	0.27805	2.865000	0.98341	0.655000	0.94253	GCC	EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0.00	89	0	C	NM_012307		5406823	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.889	T
EPB41L3	23136	genome.wustl.edu	37	18	5406836	5406836	+	Frame_Shift_Del	DEL	G	G	-	rs569408156	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:5406836delG	ENST00000341928.2	-	16	2629	c.2289delC	c.(2287-2289)cccfs	p.P763fs	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Frame_Shift_Del_p.P35fs|EPB41L3_ENST00000427684.2_Frame_Shift_Del_p.P35fs|EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.P594fs|EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.P582fs|EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.P582fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.P763fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	763	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCAGTCGCACGGGGGAGGTGG	0.507																																																	0													150.0	123.0	132.0					18																	5406836		2203	4300	6503	SO:0001589	frameshift_variant	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2289delC	18.37:g.5406836delG	ENSP00000343158:p.Pro763fs		B7Z4I5|F5GX05|O95713|Q9BRP5	Frame_Shift_Del	DEL	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V764fs	ENST00000341928.2	37	c.2289	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein,pfam_SAB_dom	ENSG00000082397		0.507	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1		0.00	96	0	G	NM_012307		5406836	-1	tier1		no_errors	ENST00000341928	ensembl	human	known	74_37	frame_shift_del	15.28	61	11	DEL	0.000	-
EPG5	57724	genome.wustl.edu	37	18	43470004	43470005	+	Intron	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:43470004_43470005insA	ENST00000282041.5	-	28	4844				EPG5_ENST00000585906.1_Intron	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)						autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATAAAAATACCAAAATTTGTAT	0.282																																																	0																																										SO:0001627	intron_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4810-99->T	18.37:g.43470008_43470008dupA			A2BDF3|Q9H8C8	RNA	INS	-	NULL	ENST00000282041.5	37	NULL	CCDS11926.2	18																																																																																			EPG5	-	-	ENSG00000152223		0.282	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1		0.00	16	0	-	NM_020964		43470005	-1	tier1		no_errors	ENST00000587973	ensembl	human	known	74_37	rna	26.67	11	4	INS	0.001:0.004	A
EPHA2	1969	genome.wustl.edu	37	1	16462258	16462258	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:16462258delG	ENST00000358432.5	-	6	1474	c.1320delC	c.(1318-1320)cccfs	p.P440fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	440	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GCCTCACCTTGGGGGGCTCTG	0.652																																																	0													26.0	27.0	27.0					1																	16462258		2202	4300	6502	SO:0001589	frameshift_variant	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1320delC	1.37:g.16462258delG	ENSP00000351209:p.Pro440fs		B5A968|Q8N3Z2	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K441fs	ENST00000358432.5	37	c.1320	CCDS169.1	1																																																																																			EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142627		0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1		0.00	75	0	G	NM_004431		16462258	-1	tier1		no_errors	ENST00000358432	ensembl	human	known	74_37	frame_shift_del	11.11	48	6	DEL	1.000	-
EPHA10	284656	genome.wustl.edu	37	1	38227207	38227207	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:38227207G>A	ENST00000373048.4	-	3	719	c.720C>T	c.(718-720)tgC>tgT	p.C240C	EPHA10_ENST00000319637.6_Silent_p.C240C|EPHA10_ENST00000427468.2_Silent_p.C240C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	240					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGCGCCACGCACGTTCCGG	0.726																																																	0													15.0	17.0	16.0					1																	38227207		2193	4266	6459	SO:0001819	synonymous_variant	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.720C>T	1.37:g.38227207G>A			A4FU89|J3KPB5|Q6NW42	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.C240	ENST00000373048.4	37	c.720	CCDS41305.1	1																																																																																			EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom	ENSG00000183317		0.726	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2		0.00	13	0	G	NM_173641		38227207	-1			no_errors	ENST00000427468	ensembl	human	known	74_37	silent	21.43	11	3	SNP	1.000	A
EPHA4	2043	genome.wustl.edu	37	2	222294769	222294769	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:222294769C>T	ENST00000281821.2	-	15	2640	c.2599G>A	c.(2599-2601)Gac>Aac	p.D867N	EPHA4_ENST00000392071.4_Missense_Mutation_p.D816N|EPHA4_ENST00000409938.1_Missense_Mutation_p.D867N|EPHA4_ENST00000409854.1_Missense_Mutation_p.D867N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	867	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTAGGCCTGTCGCTCCTCTCC	0.542																																																	0													146.0	138.0	141.0					2																	222294769		2203	4300	6503	SO:0001583	missense	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2599G>A	2.37:g.222294769C>T	ENSP00000281821:p.Asp867Asn		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D867N	ENST00000281821.2	37	c.2599	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075799	0.76415	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.89	5.89	0.94794	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.044179	0.85682	D	0.000000	D	0.84638	0.5516	L	0.37466	1.105	0.80722	D	1	D	0.59767	0.986	P	0.56127	0.792	T	0.79923	-0.1598	10	0.19590	T	0.45	.	20.3344	0.98733	0.0:1.0:0.0:0.0	.	867	P54764	EPHA4_HUMAN	N	867;867;867;816	ENSP00000281821:D867N;ENSP00000386276:D867N;ENSP00000386829:D867N;ENSP00000375923:D816N	ENSP00000281821:D867N	D	-	1	0	EPHA4	222003013	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.815000	0.86186	2.822000	0.97130	0.650000	0.86243	GAC	EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000116106		0.542	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	-	0.00	48	0	C			222294769	-1	tier1	-	no_errors	ENST00000281821	ensembl	human	known	74_37	missense	9.80	45	5	SNP	1.000	T
EPHA7	2045	genome.wustl.edu	37	6	93964433	93964433	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:93964433A>G	ENST00000369303.4	-	14	2648	c.2464T>C	c.(2464-2466)Tat>Cat	p.Y822H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACTATTCCATAGCTCCATACA	0.393																																																	0													141.0	122.0	129.0					6																	93964433		2203	4300	6503	SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2464T>C	6.37:g.93964433A>G	ENSP00000358309:p.Tyr822His		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Y822H	ENST00000369303.4	37	c.2464	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794736	0.90453	.	.	ENSG00000135333	ENST00000369303	D	0.85955	-2.05	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93112	0.7807	M	0.92649	3.33	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.955;0.962;0.978	D	0.94764	0.7939	10	0.87932	D	0	.	15.6344	0.76941	1.0:0.0:0.0:0.0	.	818;817;822	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	H	822	ENSP00000358309:Y822H	ENSP00000358309:Y822H	Y	-	1	0	EPHA7	94021154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.329000	0.96413	2.105000	0.64084	0.533000	0.62120	TAT	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135333		0.393	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1		0.00	65	0	A			93964433	-1			no_errors	ENST00000369303	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G
EPHA8	2046	genome.wustl.edu	37	1	22915633	22915633	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:22915633G>A	ENST00000166244.3	+	5	1321	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	EPHA8_ENST00000538803.1_Missense_Mutation_p.G417S|EPHA8_ENST00000374644.4_Missense_Mutation_p.G417S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	417	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCCGTCAATGGCGTGTCCGA	0.662																																																	0													32.0	29.0	30.0					1																	22915633		2203	4298	6501	SO:0001583	missense	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1249G>A	1.37:g.22915633G>A	ENSP00000166244:p.Gly417Ser		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.G417S	ENST00000166244.3	37	c.1249	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810681	0.90707	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.60548	0.18;0.18;0.18	4.52	4.52	0.55395	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.069540	0.56097	D	0.000028	T	0.72566	0.3476	M	0.69248	2.105	0.58432	D	0.999998	B;D	0.71674	0.003;0.998	B;D	0.65323	0.015;0.934	T	0.76484	-0.2942	10	0.87932	D	0	.	16.3069	0.82852	0.0:0.0:1.0:0.0	.	417;417	P29322;P29322-2	EPHA8_HUMAN;.	S	417	ENSP00000166244:G417S;ENSP00000363775:G417S;ENSP00000440274:G417S	ENSP00000166244:G417S	G	+	1	0	EPHA8	22788220	1.000000	0.71417	0.998000	0.56505	0.760000	0.43138	9.500000	0.97977	2.498000	0.84270	0.436000	0.28706	GGC	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000070886		0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	-	0.00	76	0	G	NM_020526		22915633	+1	tier1	-	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	15.15	56	10	SNP	1.000	A
EPHB1	2047	genome.wustl.edu	37	3	134670233	134670233	+	Silent	SNP	C	C	T	rs371726436		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:134670233C>T	ENST00000398015.3	+	3	514	c.144C>T	c.(142-144)taC>taT	p.Y48Y	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	48	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.Y48Y(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCAGTGGCTACGATGAAAACC	0.502																																																	2	Substitution - coding silent(2)	large_intestine(2)						C		0,4318		0,0,2159	36.0	40.0	39.0		144	-7.7	0.6	3		39	1,8559		0,1,4279	no	coding-synonymous	EPHB1	NM_004441.4		0,1,6438	TT,TC,CC		0.0117,0.0,0.0078		48/985	134670233	1,12877	2159	4280	6439	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.144C>T	3.37:g.134670233C>T			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Y48	ENST00000398015.3	37	c.144	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000154928		0.502	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0.00	64	0	C	NM_004441		134670233	+1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	27.66	34	13	SNP	0.172	T
EPHB1	2047	genome.wustl.edu	37	3	134670376	134670376	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:134670376G>A	ENST00000398015.3	+	3	657	c.287G>A	c.(286-288)tGc>tAc	p.C96Y	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	96	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTGAGAGACTGCAGCAGCCTC	0.537																																																	0													41.0	42.0	42.0					3																	134670376		2051	4226	6277	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.287G>A	3.37:g.134670376G>A	ENSP00000381097:p.Cys96Tyr		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.C96Y	ENST00000398015.3	37	c.287	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325251	0.81580	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000473867;ENST00000474732	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.69	5.69	0.88448	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.84497	0.5485	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.87168	0.2219	10	0.72032	D	0.01	.	19.8275	0.96624	0.0:0.0:1.0:0.0	.	96;96	B5A969;P54762	.;EPHB1_HUMAN	Y	74;96;74;74	ENSP00000417435:C74Y;ENSP00000381097:C96Y;ENSP00000417216:C74Y;ENSP00000418352:C74Y	ENSP00000381097:C96Y	C	+	2	0	EPHB1	136153066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.684000	0.91462	0.650000	0.86243	TGC	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000154928		0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0.00	51	0	G	NM_004441		134670376	+1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	missense	19.15	38	9	SNP	1.000	A
EPHB2	2048	genome.wustl.edu	37	1	23240246	23240246	+	Frame_Shift_Del	DEL	A	A	-	rs56871920|rs563863657|rs386629492	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:23240246delA	ENST00000400191.3	+	17	3069	c.3051delA	c.(3049-3051)ggafs	p.G1017fs	RP1-74M1.3_ENST00000610135.1_lincRNA|EPHB2_ENST00000374632.3_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1017					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAACGACGGAAAAAAAAAGG	0.498													AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion	13	0.00259585	0.0068	0.0058	5008	,	,		16660	0.0		0.0	False		,,,				2504	0.0																0									,	52,111,4085		0,0,52,6,99,1967	46.0	53.0	50.0		,	4.6	0.1	1	dbSNP_129	51	88,139,8001		1,0,86,4,131,3892	no	utr-3,utr-3	EPHB2	NM_017449.3,NM_004442.6	,	1,0,138,10,230,5859	A1A1,A1A2,A1R,A2A2,A2R,RR		2.7589,3.8371,3.126	,	,	23240246	140,250,12086	1567	3582	5149	SO:0001589	frameshift_variant	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.3051delA	1.37:g.23240246delA	ENSP00000383053:p.Gly1017fs		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K1020fs	ENST00000400191.3	37	c.3051		1																																																																																			EPHB2	-	NULL	ENSG00000133216		0.498	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2		0.00	74	0	A	NM_017449		23240246	+1	tier1		no_errors	ENST00000400191	ensembl	human	known	74_37	frame_shift_del	23.46	62	19	DEL	0.270	-
EPHX1	2052	genome.wustl.edu	37	1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:226026384delC	ENST00000366837.4	+	4	590	c.394delC	c.(394-396)cccfs	p.P133fs	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	133					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCACGTGAAGCCCCCCCAGCT	0.627																																																	0													79.0	90.0	87.0					1																	226026384		2203	4300	6503	SO:0001589	frameshift_variant	0			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.394delC	1.37:g.226026384delC	ENSP00000355802:p.Pro133fs		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Frame_Shift_Del	DEL	pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like	p.Q134fs	ENST00000366837.4	37	c.394	CCDS1547.1	1																																																																																			EPHX1	-	pfam_Epoxide_hydro_N,pirsf_Epoxide_hydrolase	ENSG00000143819		0.627	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX1	HGNC	protein_coding	OTTHUMT00000092064.1		0.00	16	0	C	NM_000120		226026384	+1	tier1		no_errors	ENST00000272167	ensembl	human	known	74_37	frame_shift_del	26.67	22	8	DEL	1.000	-
EPPK1	83481	genome.wustl.edu	37	8	144944886	144944886	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:144944886G>A	ENST00000525985.1	-	2	2607	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C				P58107	EPIPL_HUMAN	epiplakin 1	846						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCCTCCTGCGGCCCTCGCTG	0.642																																																	0													16.0	19.0	18.0					8																	144944886		2142	4253	6395	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2536C>T	8.37:g.144944886G>A	ENSP00000436337:p.Arg846Cys		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.R846C	ENST00000525985.1	37	c.2536		8	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453057	0.63290	.	.	ENSG00000227184	ENST00000525985	T	0.68181	-0.31	4.94	-1.14	0.09741	.	.	.	.	.	T	0.54951	0.1890	L	0.52905	1.665	0.09310	N	1	B	0.19073	0.033	B	0.10450	0.005	T	0.48790	-0.9004	9	0.62326	D	0.03	.	3.8208	0.08835	0.3672:0.0:0.3724:0.2604	.	846	E9PPU0	.	C	846	ENSP00000436337:R846C	ENSP00000436337:R846C	R	-	1	0	EPPK1	145016874	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.617000	0.05584	-0.455000	0.07054	0.655000	0.94253	CGC	EPPK1	-	NULL	ENSG00000227184		0.642	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0.00	23	0	G	NM_031308		144944886	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.000	A
EPS8L2	64787	genome.wustl.edu	37	11	726965	726965	+	Frame_Shift_Del	DEL	G	G	-	rs140464832	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:726965delG	ENST00000533256.1	+	22	2507	c.2132delG	c.(2131-2133)aggfs	p.R711fs	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Frame_Shift_Del_p.R727fs|EPS8L2_ENST00000534449.1_Intron|EPS8L2_ENST00000318562.8_Frame_Shift_Del_p.R711fs|EPS8L2_ENST00000530636.1_Frame_Shift_Del_p.R711fs			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	711					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATCAGAGGAGGGGGGAGGAC	0.537																																																	0													32.0	31.0	31.0					11																	726965		2202	4300	6502	SO:0001589	frameshift_variant	0			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.2132delG	11.37:g.726965delG	ENSP00000435585:p.Arg711fs		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Frame_Shift_Del	DEL	pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain	p.E713fs	ENST00000533256.1	37	c.2132	CCDS31328.1	11																																																																																			EPS8L2	-	NULL	ENSG00000177106		0.537	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPS8L2	HGNC	protein_coding	OTTHUMT00000382344.1		0.00	43	0	G	NM_022772		726965	+1	tier1		no_errors	ENST00000318562	ensembl	human	known	74_37	frame_shift_del	18.60	35	8	DEL	0.028	-
ERAS	3266	genome.wustl.edu	37	X	48687785	48687785	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:48687785G>A	ENST00000338270.1	+	1	503	c.252G>A	c.(250-252)ctG>ctA	p.L84L	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	84					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						AGTTGACCCTGGACAGTGGGG	0.607																																																	0													85.0	67.0	73.0					X																	48687785		2203	4300	6503	SO:0001819	synonymous_variant	0			X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"""	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.252G>A	X.37:g.48687785G>A				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L84	ENST00000338270.1	37	c.252	CCDS35246.1	X																																																																																			ERAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000187682		0.607	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAS	HGNC	protein_coding	OTTHUMT00000132402.1	-	0.00	54	0	G	NM_181532		48687785	+1	tier1	-	no_errors	ENST00000338270	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.003	A
ERBB2	2064	genome.wustl.edu	37	17	37881000	37881000	+	Missense_Mutation	SNP	G	G	A	rs121913471		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:37881000G>A	ENST00000269571.5	+	20	2488	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M	ERBB2_ENST00000541774.1_Missense_Mutation_p.V762M|ERBB2_ENST00000584601.1_Missense_Mutation_p.V747M|ERBB2_ENST00000445658.2_Missense_Mutation_p.V501M|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.V747M|ERBB2_ENST00000406381.2_Missense_Mutation_p.V747M|ERBB2_ENST00000584450.1_Missense_Mutation_p.V777M			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V777L(6)|p.V777M(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	large_intestine(3)|stomach(2)|lung(1)|breast(1)											91.0	90.0	90.0					17																	37881000		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2329G>A	17.37:g.37881000G>A	ENSP00000269571:p.Val777Met		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V777M	ENST00000269571.5	37	c.2329	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839321	0.51057	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.57725	0.2073	N	0.13235	0.315	0.80722	D	1	D;P;P	0.58268	0.982;0.902;0.805	P;B;B	0.52856	0.711;0.338;0.346	T	0.57027	-0.7881	9	0.27082	T	0.32	.	18.5686	0.91126	0.0:0.0:1.0:0.0	.	501;762;777	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	M	747;762;501;777;747	ENSP00000385185:V747M;ENSP00000446466:V762M;ENSP00000404047:V501M;ENSP00000269571:V777M;ENSP00000443562:V747M	ENSP00000269571:V777M	V	+	1	0	ERBB2	35134526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.847000	0.99503	2.478000	0.83669	0.563000	0.77884	GTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141736		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0.00	72	0	G			37881000	+1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	28.12	46	18	SNP	1.000	A
ERBB4	2066	genome.wustl.edu	37	2	213403245	213403245	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:213403245C>T	ENST00000342788.4	-	1	320	c.10G>A	c.(10-12)Gcg>Acg	p.A4T	ERBB4_ENST00000436443.1_Missense_Mutation_p.A4T|ERBB4_ENST00000402597.1_Missense_Mutation_p.A4T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	4					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AGTCCTGTCGCCGGCTTCATT	0.612										TSP Lung(8;0.080)																																							0													61.0	76.0	71.0					2																	213403245		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.10G>A	2.37:g.213403245C>T	ENSP00000342235:p.Ala4Thr		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A4T	ENST00000342788.4	37	c.10	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	C	6.173	0.400172	0.11696	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.74947	-0.87;-0.89;-0.87	5.87	4.94	0.65067	.	0.186351	0.32785	N	0.005647	T	0.52008	0.1708	N	0.08118	0	0.27738	N	0.944564	B;B;B;B	0.18310	0.027;0.01;0.027;0.016	B;B;B;B	0.18263	0.021;0.007;0.021;0.009	T	0.30504	-0.9976	10	0.13470	T	0.59	.	12.2102	0.54375	0.0:0.8291:0.1709:0.0	.	4;4;4;4	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	T	4	ENSP00000342235:A4T;ENSP00000403204:A4T;ENSP00000385565:A4T	ENSP00000342235:A4T	A	-	1	0	ERBB4	213111490	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	1.946000	0.40283	2.800000	0.96347	0.456000	0.33151	GCG	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000178568		0.612	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0.00	170	0	C	NM_001042599		213403245	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	11.36	117	15	SNP	1.000	T
ERF	2077	genome.wustl.edu	37	19	42753368	42753368	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:42753368delC	ENST00000222329.4	-	4	1053	c.896delG	c.(895-897)ggafs	p.G300fs	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Del_p.G225fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	300					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTGGGAGCCTCCCCCTGAGCC	0.677																																																	0													36.0	40.0	39.0					19																	42753368		2201	4297	6498	SO:0001589	frameshift_variant	0			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.896delG	19.37:g.42753368delC	ENSP00000222329:p.Gly300fs		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.G299fs	ENST00000222329.4	37	c.896	CCDS12600.1	19																																																																																			ERF	-	NULL	ENSG00000105722		0.677	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1		0.00	44	0	C	NM_006494		42753368	-1	tier1		no_errors	ENST00000222329	ensembl	human	known	74_37	frame_shift_del	23.21	43	13	DEL	0.941	-
PLK1	5347	genome.wustl.edu	37	16	23702270	23702270	+	IGR	SNP	C	C	T	rs377283392		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:23702270C>T	ENST00000300093.4	+	0	2227				ERN2_ENST00000256797.4_Missense_Mutation_p.R936Q|CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000457008.2_Missense_Mutation_p.R836Q	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R936Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAGGAGCAGCCGTGGGAAGCG	0.627																																					Colon(12;240 564 27038 33155)												1	Substitution - Missense(1)	large_intestine(1)											68.0	66.0	66.0					16																	23702270		2197	4300	6497	SO:0001628	intergenic_variant	0				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702270C>T			Q15153|Q99746	Missense_Mutation	SNP	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.R936Q	ENST00000300093.4	37	c.2807	CCDS10616.1	16	.	.	.	.	.	.	.	.	.	.	C	4.439	0.081159	0.08533	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.29142	1.58;1.58	5.22	-3.28	0.05033	.	0.708209	0.13566	N	0.378434	T	0.14527	0.0351	L	0.28458	0.855	0.22601	N	0.998946	B;B	0.26081	0.141;0.023	B;B	0.19666	0.013;0.026	T	0.25572	-1.0128	10	0.18276	T	0.48	.	4.4086	0.11421	0.24:0.3856:0.0:0.3743	.	836;888	E7ETG2;A5YM65	.;.	Q	936;836	ENSP00000256797:R936Q;ENSP00000413812:R836Q	ENSP00000256797:R936Q	R	-	2	0	ERN2	23609771	0.000000	0.05858	0.028000	0.17463	0.007000	0.05969	-0.248000	0.08854	-0.173000	0.10761	-1.332000	0.01269	CGG	ERN2	-	pfam_KEN_dom,smart_PUG-dom	ENSG00000134398		0.627	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000214057.2		0.00	37	0	C	NM_005030		23702270	-1			no_errors	ENST00000256797	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.004	T
ERVMER34-1	100288413	genome.wustl.edu	37	4	53610789	53610789	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:53610789delA	ENST00000443173.1	-	3	1759	c.899delT	c.(898-900)ttgfs	p.L300fs	ERVMER34-1_ENST00000540758.1_Frame_Shift_Del_p.L300fs|ERVMER34-1_ENST00000454756.2_Intron|ERVMER34-1_ENST00000440542.1_Frame_Shift_Del_p.L300fs	NM_001242690.1	NP_001229619.1	Q9H9K5	MER34_HUMAN	endogenous retrovirus group MER34, member 1	300						integral component of membrane (GO:0016021)|viral envelope (GO:0019031)				endometrium(3)|kidney(1)	4						attgccgcacaaaaaaaagag	0.488																																																	0													76.0	68.0	70.0					4																	53610789		692	1591	2283	SO:0001589	frameshift_variant	0					4q12	2011-10-20			ENSG00000226887	ENSG00000226887			42970	other	endogenous retrovirus							Standard	NM_024534		Approved		uc003gzs.3	Q9H9K5	OTTHUMG00000150366	ENST00000443173.1:c.899delT	4.37:g.53610789delA	ENSP00000460602:p.Leu300fs		B3KTB4|Q0P5R3|Q6NWN0	Frame_Shift_Del	DEL	pfam_TLV/ENV_coat_polyprotein	p.L300fs	ENST00000443173.1	37	c.899		4																																																																																			ERVMER34-1	-	NULL	ENSG00000226887		0.488	ERVMER34-1-002	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	ERVMER34-1	HGNC	protein_coding	OTTHUMT00000317860.2		0.00	68	0	A	NM_024534		53610789	-1	tier1		no_errors	ENST00000440542	ensembl	human	known	74_37	frame_shift_del	15.38	33	6	DEL	0.001	-
ESPN	83715	genome.wustl.edu	37	1	6504567	6504567	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:6504567G>A	ENST00000377828.1	+	6	1185	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	339					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCTTTCCCGGGATCCATCCG	0.612																																																	0													77.0	59.0	65.0					1																	6504567		2203	4300	6503	SO:0001819	synonymous_variant	0			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1017G>A	1.37:g.6504567G>A			Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.R339	ENST00000377828.1	37	c.1017	CCDS70.1	1																																																																																			ESPN	-	NULL	ENSG00000187017		0.612	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	-	0.00	40	0	G	NM_031475		6504567	+1	tier1	-	no_errors	ENST00000377828	ensembl	human	known	74_37	silent	17.39	38	8	SNP	1.000	A
ESR2	2100	genome.wustl.edu	37	14	64723982	64723982	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:64723982G>A	ENST00000341099.4	-	6	1470	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	ESR2_ENST00000353772.3_Silent_p.P351P|ESR2_ENST00000542956.1_Silent_p.P351P|ESR2_ENST00000357782.2_Silent_p.P351P|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Silent_p.P351P|ESR2_ENST00000553796.1_Silent_p.P351P|ESR2_ENST00000554572.1_Silent_p.P351P|ESR2_ENST00000555278.1_Silent_p.P351P|ESR2_ENST00000557772.1_Silent_p.P351P|ESR2_ENST00000267525.6_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	351	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGAGCTTGCCGGGGTGGTCAA	0.498																																																	0													123.0	121.0	122.0					14																	64723982		2203	4300	6503	SO:0001819	synonymous_variant	0			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1053C>T	14.37:g.64723982G>A			A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P351	ENST00000341099.4	37	c.1053	CCDS9762.1	14																																																																																			ESR2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000140009		0.498	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	HGNC	protein_coding	OTTHUMT00000280621.1	-	0.00	58	0	G			64723982	-1	tier1	-	no_errors	ENST00000341099	ensembl	human	known	74_37	silent	30.23	30	13	SNP	0.018	A
ESRP1	54845	genome.wustl.edu	37	8	95686611	95686611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:95686611delA	ENST00000433389.2	+	12	1718	c.1528delA	c.(1528-1530)aaafs	p.K511fs	ESRP1_ENST00000423620.2_Frame_Shift_Del_p.K511fs|ESRP1_ENST00000358397.5_Frame_Shift_Del_p.K511fs|ESRP1_ENST00000454170.2_Frame_Shift_Del_p.K511fs	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	511	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.N512fs*8(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GAAGTGTCATAAAAAAAACAT	0.438																																																	2	Insertion - Frameshift(2)	large_intestine(2)											86.0	88.0	87.0					8																	95686611		1883	4113	5996	SO:0001589	frameshift_variant	0			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1528delA	8.37:g.95686611delA	ENSP00000405738:p.Lys511fs		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Frame_Shift_Del	DEL	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.N512fs	ENST00000433389.2	37	c.1528	CCDS47897.1	8																																																																																			ESRP1	-	smart_RRM_dom	ENSG00000104413		0.438	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1		0.00	59	0	A	NM_017697		95686611	+1	tier1		no_errors	ENST00000433389	ensembl	human	known	74_37	frame_shift_del	10.67	67	8	DEL	1.000	-
ETS1	2113	genome.wustl.edu	37	11	128359270	128359270	+	Silent	SNP	G	G	A	rs549425510		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:128359270G>A	ENST00000319397.6	-	3	627	c.318C>T	c.(316-318)tgC>tgT	p.C106C	ETS1_ENST00000345075.4_Silent_p.C106C|ETS1_ENST00000531611.1_Silent_p.C106C|ETS1_ENST00000526145.2_Silent_p.C106C|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000392668.4_Silent_p.C150C	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	106	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.C106C(2)|p.C150C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TACCCAGGGCGCAGAGGGCTG	0.493																																																	3	Substitution - coding silent(3)	lung(2)|prostate(1)											129.0	131.0	130.0					11																	128359270		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.318C>T	11.37:g.128359270G>A			A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom	p.C150	ENST00000319397.6	37	c.450	CCDS8475.1	11																																																																																			ETS1	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transform_prot_C-ets	ENSG00000134954		0.493	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS1	HGNC	protein_coding	OTTHUMT00000386269.2	-	0.00	63	0	G	NM_005238		128359270	-1	tier1	-	no_errors	ENST00000392668	ensembl	human	known	74_37	silent	26.58	58	21	SNP	0.940	A
EVC2	132884	genome.wustl.edu	37	4	5624385	5624385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:5624385delC	ENST00000344408.5	-	14	2433	c.2380delG	c.(2380-2382)gagfs	p.E795fs	EVC2_ENST00000310917.2_Frame_Shift_Del_p.E715fs|EVC2_ENST00000344938.1_Frame_Shift_Del_p.E795fs	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	795					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCCTCTCCTCCCCCTCCAGC	0.662																																																	0													71.0	50.0	57.0					4																	5624385		2203	4300	6503	SO:0001589	frameshift_variant	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2380delG	4.37:g.5624385delC	ENSP00000342144:p.Glu795fs		Q86YT3|Q86YT4|Q8NG49	Frame_Shift_Del	DEL	pfam_Limbin	p.E794fs	ENST00000344408.5	37	c.2380	CCDS3382.2	4																																																																																			EVC2	-	NULL	ENSG00000173040		0.662	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2		0.00	35	0	C	NM_147127		5624385	-1	tier1		no_errors	ENST00000344408	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	0.994	-
EVC	2121	genome.wustl.edu	37	4	5809991	5809991	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:5809991C>T	ENST00000264956.6	+	18	2809	c.2625C>T	c.(2623-2625)caC>caT	p.H875H	EVC_ENST00000382674.2_Silent_p.H875H	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	875					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGCGTCTGCACGCCCAGCAGC	0.607																																																	0													57.0	52.0	54.0					4																	5809991		2203	4300	6503	SO:0001819	synonymous_variant	0			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2625C>T	4.37:g.5809991C>T				Silent	SNP	NULL	p.H875	ENST00000264956.6	37	c.2625	CCDS3383.1	4																																																																																			EVC	-	NULL	ENSG00000072840		0.607	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1	-	0.00	49	0	C			5809991	+1	tier1	-	no_errors	ENST00000264956	ensembl	human	known	74_37	silent	25.93	20	7	SNP	0.000	T
EVI5	7813	genome.wustl.edu	37	1	93159366	93159366	+	Frame_Shift_Del	DEL	T	T	-	rs200529227		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:93159366delT	ENST00000370331.1	-	9	1231	c.1222delA	c.(1222-1224)atgfs	p.M408fs	EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TACTTTTTCATTTTTTTTGAA	0.318																																																	0													76.0	82.0	80.0					1																	93159366		2202	4297	6499	SO:0001589	frameshift_variant	0			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1222delA	1.37:g.93159366delT	ENSP00000359356:p.Met408fs		A6NKX8|B9A6J0|Q9H1Y9	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M408fs	ENST00000370331.1	37	c.1222	CCDS30774.1	1																																																																																			EVI5	-	NULL	ENSG00000067208		0.318	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1		0.00	38	0	T	NM_005665		93159366	-1	tier1		no_errors	ENST00000543509	ensembl	human	known	74_37	frame_shift_del	23.33	46	14	DEL	1.000	-
EVI5L	115704	genome.wustl.edu	37	19	7911536	7911536	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:7911536G>T	ENST00000270530.4	+	2	304	c.108G>T	c.(106-108)gaG>gaT	p.E36D	EVI5L_ENST00000538904.2_Missense_Mutation_p.E36D	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	36					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ATGAGCTGGAGCTGCTGGCCA	0.662																																																	0													24.0	27.0	26.0					19																	7911536		2201	4299	6500	SO:0001583	missense	0			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.108G>T	19.37:g.7911536G>T	ENSP00000270530:p.Glu36Asp		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E36D	ENST00000270530.4	37	c.108	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010436	0.54361	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.05786	3.39;3.39	4.78	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	M	0.62016	1.91	0.51767	D	0.999931	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.967	T	0.00657	-1.1623	10	0.37606	T	0.19	-34.1377	9.8578	0.41096	0.1032:0.0:0.8968:0.0	.	36;36	B9A6I9;Q96CN4	.;EVI5L_HUMAN	D	36	ENSP00000270530:E36D;ENSP00000445905:E36D	ENSP00000270530:E36D	E	+	3	2	EVI5L	7817536	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.785000	0.38684	0.980000	0.38523	0.561000	0.74099	GAG	EVI5L	-	NULL	ENSG00000142459		0.662	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1		0.00	72	0	G	NM_145245		7911536	+1			no_errors	ENST00000538904	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
EVI5L	115704	genome.wustl.edu	37	19	7920932	7920932	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:7920932A>G	ENST00000270530.4	+	11	1374	c.1178A>G	c.(1177-1179)cAg>cGg	p.Q393R	EVI5L_ENST00000538904.2_Missense_Mutation_p.Q393R	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	393					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CTCCTGAAACAGCGGATTGAA	0.622																																																	0													70.0	58.0	62.0					19																	7920932		2203	4300	6503	SO:0001583	missense	0			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1178A>G	19.37:g.7920932A>G	ENSP00000270530:p.Gln393Arg		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q393R	ENST00000270530.4	37	c.1178	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294943	0.81025	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	D;T	0.97232	-4.3;3.31	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.76838	2.35	0.49687	D	0.99981	D;D	0.71674	0.998;0.991	D;P	0.64506	0.926;0.76	D	0.98173	1.0453	10	0.87932	D	0	-34.726	11.1874	0.48664	1.0:0.0:0.0:0.0	.	393;393	B9A6I9;Q96CN4	.;EVI5L_HUMAN	R	393	ENSP00000270530:Q393R;ENSP00000445905:Q393R	ENSP00000270530:Q393R	Q	+	2	0	EVI5L	7826932	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.109000	0.94291	1.755000	0.51935	0.459000	0.35465	CAG	EVI5L	-	NULL	ENSG00000142459		0.622	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	-	0.00	124	0	A	NM_145245		7920932	+1	tier1	-	no_errors	ENST00000538904	ensembl	human	known	74_37	missense	20.79	80	21	SNP	1.000	G
EVPL	2125	genome.wustl.edu	37	17	74019420	74019420	+	Missense_Mutation	SNP	C	C	T	rs57576632	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:74019420C>T	ENST00000301607.3	-	4	686	c.433G>A	c.(433-435)Gac>Aac	p.D145N	EVPL_ENST00000586740.1_Missense_Mutation_p.D145N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	145	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCCCACGTCGGGGGGCAGC	0.622													C|||	19	0.00379393	0.0144	0.0	5008	,	,		21031	0.0		0.0	False		,,,				2504	0.0																0								C	ASN/ASP	43,4363	44.6+/-78.6	0,43,2160	95.0	91.0	92.0		433	1.5	0.0	17	dbSNP_129	92	0,8600		0,0,4300	yes	missense	EVPL	NM_001988.2	23	0,43,6460	TT,TC,CC		0.0,0.9759,0.3306	benign	145/2034	74019420	43,12963	2203	4300	6503	SO:0001583	missense	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.433G>A	17.37:g.74019420C>T	ENSP00000301607:p.Asp145Asn		A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.D145N	ENST00000301607.3	37	c.433	CCDS11737.1	17	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	9.789	1.177399	0.21787	0.009759	0.0	ENSG00000167880	ENST00000301607	T	0.19105	2.17	4.66	1.48	0.22813	.	0.601645	0.17467	N	0.173212	T	0.10078	0.0247	L	0.29908	0.895	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.0	T	0.18272	-1.0342	10	0.48119	T	0.1	-13.7114	8.9279	0.35652	0.0:0.759:0.0:0.241	rs57576632	145;145	B7ZLH8;Q92817	.;EVPL_HUMAN	N	145	ENSP00000301607:D145N	ENSP00000301607:D145N	D	-	1	0	EVPL	71531015	0.000000	0.05858	0.001000	0.08648	0.090000	0.18270	0.756000	0.26419	0.136000	0.18733	0.561000	0.74099	GAC	EVPL	-	NULL	ENSG00000167880		0.622	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1		0.00	75	0	C	NM_001988		74019420	-1			no_errors	ENST00000301607	ensembl	human	known	74_37	missense	8.82	61	6	SNP	0.023	T
EXOSC9	5393	genome.wustl.edu	37	4	122723894	122723894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:122723894delT	ENST00000243498.5	+	3	335	c.227delT	c.(226-228)cttfs	p.L76fs	EXOSC9_ENST00000379663.3_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000512454.1_Frame_Shift_Del_p.L60fs	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	76	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAAGGTATTCTTTTTTTTAAC	0.383																																																	0													95.0	99.0	98.0					4																	122723894		2203	4300	6503	SO:0001589	frameshift_variant	0			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.227delT	4.37:g.122723894delT	ENSP00000243498:p.Leu76fs		Q12883|Q4W5P5|Q86Y41|Q86Y48	Frame_Shift_Del	DEL	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.F78fs	ENST00000243498.5	37	c.227	CCDS3722.2	4																																																																																			EXOSC9	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000123737		0.383	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC9	HGNC	protein_coding	OTTHUMT00000250708.2		0.00	74	0	T	NM_005033		122723894	+1	tier1		no_errors	ENST00000379663	ensembl	human	known	74_37	frame_shift_del	16.98	44	9	DEL	1.000	-
EXPH5	23086	genome.wustl.edu	37	11	108384340	108384340	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:108384340delA	ENST00000265843.4	-	6	2004	c.1894delT	c.(1894-1896)tccfs	p.S632fs	EXPH5_ENST00000443411.1_Frame_Shift_Del_p.S444fs|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.S556fs|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.S625fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	632					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAATCTGGGAAAAGGAAGTT	0.413																																																	0													96.0	100.0	99.0					11																	108384340		2201	4298	6499	SO:0001589	frameshift_variant	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1894delT	11.37:g.108384340delA	ENSP00000265843:p.Ser632fs		Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.S632fs	ENST00000265843.4	37	c.1894	CCDS8341.1	11																																																																																			EXPH5	-	NULL	ENSG00000110723		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1		0.00	42	0	A	NM_015065		108384340	-1	tier1		no_errors	ENST00000265843	ensembl	human	known	74_37	frame_shift_del	12.96	47	7	DEL	0.049	-
EYA2	2139	genome.wustl.edu	37	20	45771768	45771768	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:45771768T>C	ENST00000327619.5	+	10	1333	c.959T>C	c.(958-960)cTg>cCg	p.L320P	EYA2_ENST00000357410.3_Missense_Mutation_p.L320P|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	320					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GATACACATCTGTTCTTCAAT	0.448																																					Pancreas(120;56 1725 18501 25218 43520)												0													223.0	171.0	189.0					20																	45771768		2203	4300	6503	SO:0001583	missense	0				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.959T>C	20.37:g.45771768T>C	ENSP00000333640:p.Leu320Pro		Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.L320P	ENST00000327619.5	37	c.959	CCDS13403.1	20	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622420	0.87460	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000458636	D;D;D	0.82526	-1.62;-1.62;-1.62	6.17	6.17	0.99709	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.92120	0.7502	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93055	0.6469	10	0.87932	D	0	-13.5392	16.8222	0.85835	0.0:0.0:0.0:1.0	.	320;320;320	O00167-3;A8KAG7;O00167	.;.;EYA2_HUMAN	P	320;320;191	ENSP00000333640:L320P;ENSP00000349986:L320P;ENSP00000395427:L191P	ENSP00000333640:L320P	L	+	2	0	EYA2	45205175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.344000	0.79328	2.371000	0.80710	0.533000	0.62120	CTG	EYA2	-	pfam_HAD-like_dom,tigrfam_EYA	ENSG00000064655		0.448	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2		0.00	33	0	T	NM_005244		45771768	+1			no_errors	ENST00000327619	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	C
EYS	346007	genome.wustl.edu	37	6	64430615	64430615	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:64430615A>G	ENST00000370621.3	-	44	9901	c.9375T>C	c.(9373-9375)ttT>ttC	p.F3125F	EYS_ENST00000503581.1_Silent_p.F3104F|EYS_ENST00000370616.2_Silent_p.F3125F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	3125	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AATTGGTTTTAAAAATCTCTT	0.299																																																	0													76.0	70.0	72.0					6																	64430615		692	1588	2280	SO:0001819	synonymous_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.9375T>C	6.37:g.64430615A>G			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.F3125	ENST00000370621.3	37	c.9375		6																																																																																			EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000188107		0.299	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	85	0	A	XM_294050		64430615	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	silent	30.51	41	18	SNP	0.957	G
EYS	346007	genome.wustl.edu	37	6	65336092	65336092	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:65336092C>T	ENST00000370621.3	-	23	4016	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	EYS_ENST00000503581.1_Missense_Mutation_p.E1164K|EYS_ENST00000370616.2_Missense_Mutation_p.E1164K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1164	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GAAGAGCATTCATTTATATTA	0.299																																																	0													41.0	38.0	39.0					6																	65336092		692	1587	2279	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.3490G>A	6.37:g.65336092C>T	ENSP00000359655:p.Glu1164Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E1164K	ENST00000370621.3	37	c.3490		6	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703747	0.48412	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.94537	-3.45;-3.45;-3.45	4.16	1.39	0.22231	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94823	0.8328	M	0.85099	2.735	0.80722	D	1	B;D	0.61697	0.015;0.99	B;D	0.66351	0.019;0.943	D	0.91900	0.5531	9	0.37606	T	0.19	.	6.8215	0.23859	0.0:0.6905:0.0:0.3095	.	1164;1164	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	K	1164	ENSP00000424243:E1164K;ENSP00000359655:E1164K;ENSP00000359650:E1164K	ENSP00000359650:E1164K	E	-	1	0	EYS	65392813	1.000000	0.71417	0.183000	0.23137	0.982000	0.71751	1.017000	0.29989	-0.026000	0.13895	0.655000	0.94253	GAA	EYS	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000188107		0.299	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	46	0	C	XM_294050		65336092	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.955	T
EYS	346007	genome.wustl.edu	37	6	65622633	65622633	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:65622633A>T	ENST00000370621.3	-	16	2911	c.2385T>A	c.(2383-2385)tgT>tgA	p.C795*	EYS_ENST00000503581.1_Nonsense_Mutation_p.C795*|EYS_ENST00000370616.2_Nonsense_Mutation_p.C795*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	795	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATGTACACTCACATCTGaaat	0.328																																																	0													88.0	67.0	74.0					6																	65622633		692	1591	2283	SO:0001587	stop_gained	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2385T>A	6.37:g.65622633A>T	ENSP00000359655:p.Cys795*		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.C795*	ENST00000370621.3	37	c.2385		6	.	.	.	.	.	.	.	.	.	.	A	36	5.877795	0.97055	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	.	.	.	5.07	3.9	0.45041	.	0.000000	0.36815	N	0.002399	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5248	0.27650	0.8155:0.0:0.1845:0.0	.	.	.	.	X	795	.	ENSP00000359650:C795X	C	-	3	2	EYS	65679354	0.999000	0.42202	0.976000	0.42696	0.098000	0.18820	2.647000	0.46639	0.777000	0.33496	-0.441000	0.05720	TGT	EYS	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000188107		0.328	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	29	0	A	XM_294050		65622633	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	nonsense	11.11	24	3	SNP	0.969	T
F11R	50848	genome.wustl.edu	37	1	160970945	160970945	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:160970945G>T	ENST00000368026.6	-	3	408				F11R_ENST00000289779.3_Intron|F11R_ENST00000537746.1_Intron|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ATGAGCCGAAGGAAGAAGCAG	0.572																																																	0													58.0	59.0	58.0					1																	160970945		2203	4300	6503	SO:0001627	intron_variant	0			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.134-28C>A	1.37:g.160970945G>T			B7Z941	RNA	SNP	-	NULL	ENST00000368026.6	37	NULL	CCDS1213.1	1																																																																																			F11R	-	-	ENSG00000158769		0.572	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	HGNC	protein_coding	OTTHUMT00000071458.3	-	0.00	32	0	G	NM_016946		160970945	-1	tier1	-	no_errors	ENST00000472573	ensembl	human	known	74_37	rna	12.20	36	5	SNP	0.000	T
F13B	2165	genome.wustl.edu	37	1	197021828	197021828	+	Silent	SNP	T	T	C	rs535360566		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:197021828T>C	ENST00000367412.1	-	9	1534	c.1491A>G	c.(1489-1491)ccA>ccG	p.P497P	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	497	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATTCAGACAATGGGGTTAATG	0.318																																																	0													107.0	106.0	106.0					1																	197021828		2203	4294	6497	SO:0001819	synonymous_variant	0			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1491A>G	1.37:g.197021828T>C			A8K3E5|Q5VYL5	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P497	ENST00000367412.1	37	c.1491	CCDS1388.1	1																																																																																			F13B	-	superfamily_Sushi_SCR_CCP	ENSG00000143278		0.318	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2	-	0.00	66	0	T	NM_001994		197021828	-1	tier1	-	no_errors	ENST00000367412	ensembl	human	known	74_37	silent	13.64	38	6	SNP	0.000	C
F13B	2165	genome.wustl.edu	37	1	197032137	197032137	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:197032137A>G	ENST00000367412.1	-	2	158	c.115T>C	c.(115-117)Tac>Cac	p.Y39H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	39	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AAAGTATAGTAATATTGGGCA	0.333																																																	0													106.0	120.0	115.0					1																	197032137		2203	4300	6503	SO:0001583	missense	0			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.115T>C	1.37:g.197032137A>G	ENSP00000356382:p.Tyr39His		A8K3E5|Q5VYL5	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y39H	ENST00000367412.1	37	c.115	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809155	0.70797	.	.	ENSG00000143278	ENST00000367412	T	0.27720	1.65	5.58	5.58	0.84498	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.30401	N	0.009709	T	0.53318	0.1789	M	0.68952	2.095	0.50313	D	0.999869	D	0.89917	1.0	D	0.97110	1.0	T	0.49011	-0.8983	10	0.30854	T	0.27	.	15.7383	0.77863	1.0:0.0:0.0:0.0	.	39	P05160	F13B_HUMAN	H	39	ENSP00000356382:Y39H	ENSP00000356382:Y39H	Y	-	1	0	F13B	195298760	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	6.082000	0.71318	2.120000	0.65058	0.533000	0.62120	TAC	F13B	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP	ENSG00000143278		0.333	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2		0.00	29	0	A	NM_001994		197032137	-1			no_errors	ENST00000367412	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	G
F2	2147	genome.wustl.edu	37	11	46751031	46751031	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:46751031T>C	ENST00000311907.5	+	12	1630	c.1574T>C	c.(1573-1575)gTg>gCg	p.V525A	F2_ENST00000530231.1_Missense_Mutation_p.V486A	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	525	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GTCCTGCAGGTGGTGAACCTG	0.622																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0													108.0	90.0	96.0					11																	46751031		2201	4299	6500	SO:0001583	missense	0			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1574T>C	11.37:g.46751031T>C	ENSP00000308541:p.Val525Ala		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.V525A	ENST00000311907.5	37	c.1574	CCDS31476.1	11	.	.	.	.	.	.	.	.	.	.	T	13.94	2.386512	0.42308	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.88277	-2.36;-2.36	5.46	2.8	0.32819	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.289221	0.38778	N	0.001571	T	0.81059	0.4744	N	0.10645	0.015	0.28149	N	0.929461	P	0.36027	0.533	P	0.47673	0.554	T	0.74169	-0.3752	10	0.87932	D	0	.	4.7578	0.13093	0.3604:0.0942:0.0:0.5453	.	525	P00734	THRB_HUMAN	A	525;486	ENSP00000308541:V525A;ENSP00000433907:V486A	ENSP00000308541:V525A	V	+	2	0	F2	46707607	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.637000	0.61346	1.006000	0.39211	0.533000	0.62120	GTG	F2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1	ENSG00000180210		0.622	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1	-	0.00	53	0	T			46751031	+1	tier1	-	no_errors	ENST00000311907	ensembl	human	known	74_37	missense	42.00	29	21	SNP	1.000	C
FA2H	79152	genome.wustl.edu	37	16	74752984	74752984	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:74752984C>T	ENST00000219368.3	-	5	757	c.688G>A	c.(688-690)Gag>Aag	p.E230K	FA2H_ENST00000544337.1_Missense_Mutation_p.E17K	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	230					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						ATGAGGTACTCGATGAGGCTC	0.592																																																	0													92.0	80.0	84.0					16																	74752984		2198	4300	6498	SO:0001583	missense	0			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.688G>A	16.37:g.74752984C>T	ENSP00000219368:p.Glu230Lys		B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.E230K	ENST00000219368.3	37	c.688	CCDS10911.1	16	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371155	0.82573	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.85258	-1.96;-1.96	5.57	4.56	0.56223	Fatty acid hydroxylase (1);	0.095913	0.64402	D	0.000001	D	0.90317	0.6971	H	0.97365	3.99	0.80722	D	1	P	0.51933	0.949	B	0.40702	0.338	D	0.93712	0.7025	10	0.87932	D	0	-14.274	15.2278	0.73364	0.1412:0.8588:0.0:0.0	.	230	Q7L5A8	FA2H_HUMAN	K	230;17	ENSP00000219368:E230K;ENSP00000442334:E17K	ENSP00000219368:E230K	E	-	1	0	FA2H	73310485	1.000000	0.71417	0.955000	0.39395	0.715000	0.41141	5.955000	0.70306	2.619000	0.88677	0.561000	0.74099	GAG	FA2H	-	pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase	ENSG00000103089		0.592	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FA2H	HGNC	protein_coding	OTTHUMT00000269015.2	-	0.00	55	0	C	NM_024306		74752984	-1	tier1	-	no_errors	ENST00000219368	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.999	T
FAHD2B	151313	genome.wustl.edu	37	2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:97749725delG	ENST00000414820.1	-	8	1112	c.842delC	c.(841-843)ccafs	p.P281fs	FAHD2B_ENST00000440566.2_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000272610.3_Frame_Shift_Del_p.P281fs			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	281							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCGACACCTGGGGGGGTCCC	0.552																																																	0													29.0	31.0	30.0					2																	97749725		2203	4297	6500	SO:0001589	frameshift_variant	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.842delC	2.37:g.97749725delG	ENSP00000410470:p.Pro281fs		D3DXH7|Q8NDK1	Frame_Shift_Del	DEL	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.P281fs	ENST00000414820.1	37	c.842	CCDS2030.1	2																																																																																			FAHD2B	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000144199		0.552	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1		0.00	72	0	G	NM_199336		97749725	-1	tier1		no_errors	ENST00000272610	ensembl	human	known	74_37	frame_shift_del	28.89	32	13	DEL	1.000	-
FAM109B	150368	genome.wustl.edu	37	22	42473377	42473377	+	Frame_Shift_Del	DEL	G	G	-	rs200775641	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:42473377delG	ENST00000321753.3	+	3	267	c.80delG	c.(79-81)tggfs	p.W27fs	snoU13_ENST00000458891.1_RNA|SMDT1_ENST00000331479.3_5'Flank	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	27	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CTGCGCACCTGGGGGGGCCCA	0.632													GGGGGGG|GGGGGGG|GGGGGG|deletion	11	0.00219649	0.0076	0.0014	5008	,	,		17863	0.0		0.0	False		,,,				2504	0.0																0										145,4119		51,43,2038	51.0	57.0	55.0			4.5	1.0	22		55	17,8235		1,15,4110	no	frameshift	FAM109B	NM_001002034.2		52,58,6148	A1A1,A1R,RR		0.206,3.4006,1.2943			42473377	162,12354	2203	4299	6502	SO:0001589	frameshift_variant	0			BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"""Pleckstrin homology (PH) domain containing"""	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.80delG	22.37:g.42473377delG	ENSP00000312753:p.Trp27fs		Q3SXQ3|Q8N6L9	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G29fs	ENST00000321753.3	37	c.80	CCDS33655.1	22																																																																																			FAM109B	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000177096		0.632	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM109B	HGNC	protein_coding	OTTHUMT00000322084.1		0.00	73	0	G	NM_001002034		42473377	+1	tier1		no_errors	ENST00000321753	ensembl	human	known	74_37	frame_shift_del	17.24	48	10	DEL	1.000	-
FAM117A	81558	genome.wustl.edu	37	17	47788822	47788822	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:47788822A>G	ENST00000240364.2	-	8	1236	c.1157T>C	c.(1156-1158)cTg>cCg	p.L386P	FAM117A_ENST00000513602.1_Missense_Mutation_p.L114P|RP11-613C6.2_ENST00000512720.1_RNA	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	386										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGGCTTCATCAGGTTGACGGG	0.617																																																	0													41.0	47.0	45.0					17																	47788822		2203	4300	6503	SO:0001583	missense	0			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.1157T>C	17.37:g.47788822A>G	ENSP00000240364:p.Leu386Pro		B7Z7Q3	Missense_Mutation	SNP	NULL	p.L386P	ENST00000240364.2	37	c.1157	CCDS11553.1	17	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109305	0.77096	.	.	ENSG00000121104	ENST00000240364	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000006	T	0.76219	0.3957	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78570	-0.2153	9	0.87932	D	0	-15.5991	15.4487	0.75257	1.0:0.0:0.0:0.0	.	386	Q9C073	F117A_HUMAN	P	386	.	ENSP00000240364:L386P	L	-	2	0	FAM117A	45143821	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	8.958000	0.93099	2.313000	0.78055	0.455000	0.32223	CTG	FAM117A	-	NULL	ENSG00000121104		0.617	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	-	0.00	84	0	A	NM_030802		47788822	-1	tier1	-	no_errors	ENST00000240364	ensembl	human	known	74_37	missense	21.21	52	14	SNP	1.000	G
FAM117A	81558	genome.wustl.edu	37	17	47797720	47797720	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:47797720G>T	ENST00000240364.2	-	4	620	c.541C>A	c.(541-543)Cta>Ata	p.L181I	FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	181										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TGGTCCCCTAGGAGTGGTGAA	0.587																																																	0													98.0	87.0	91.0					17																	47797720		2203	4300	6503	SO:0001583	missense	0			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.541C>A	17.37:g.47797720G>T	ENSP00000240364:p.Leu181Ile		B7Z7Q3	Missense_Mutation	SNP	NULL	p.L181I	ENST00000240364.2	37	c.541	CCDS11553.1	17	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364215	0.24684	.	.	ENSG00000121104	ENST00000240364;ENST00000511743;ENST00000506156	.	.	.	5.43	4.46	0.54185	.	0.615849	0.16420	N	0.215187	T	0.33177	0.0854	N	0.08118	0	0.80722	D	1	B	0.30033	0.266	B	0.32211	0.142	T	0.13845	-1.0494	9	0.26408	T	0.33	-38.2806	12.3029	0.54884	0.0787:0.0:0.9213:0.0	.	181	Q9C073	F117A_HUMAN	I	181;71;149	.	ENSP00000240364:L181I	L	-	1	2	FAM117A	45152719	0.329000	0.24696	0.290000	0.24890	0.009000	0.06853	3.218000	0.51192	1.534000	0.49203	-0.152000	0.13540	CTA	FAM117A	-	NULL	ENSG00000121104		0.587	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	-	0.00	40	0	G	NM_030802		47797720	-1	tier1	-	no_errors	ENST00000240364	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.988	T
FAM129B	64855	genome.wustl.edu	37	9	130269287	130269287	+	Missense_Mutation	SNP	G	G	A	rs368592407		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:130269287G>A	ENST00000373312.3	-	14	2291	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	FAM129B_ENST00000373314.3_Missense_Mutation_p.P680L|FAM129B_ENST00000468379.1_5'Flank	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	693					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGAGGCAGGCGGCGAGGAGGC	0.731																																																	0								G	LEU/PRO,LEU/PRO	0,4392		0,0,2196	13.0	15.0	15.0		2039,2078	4.0	0.1	9		15	1,8583		0,1,4291	no	missense,missense	FAM129B	NM_001035534.1,NM_022833.2	98,98	0,1,6487	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	680/734,693/747	130269287	1,12975	2196	4292	6488	SO:0001583	missense	0			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.2078C>T	9.37:g.130269287G>A	ENSP00000362409:p.Pro693Leu		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	pfscan_Pleckstrin_homology	p.P693L	ENST00000373312.3	37	c.2078	CCDS35145.1	9	.	.	.	.	.	.	.	.	.	.	G	9.605	1.129833	0.21041	0.0	1.16E-4	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.24350	1.86;1.86	4.89	3.99	0.46301	.	0.361451	0.26010	N	0.026898	T	0.24353	0.0590	L	0.54323	1.7	0.09310	N	0.999991	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20571	-1.0271	10	0.62326	D	0.03	-10.6696	9.4806	0.38898	0.0996:0.0:0.9004:0.0	.	680;693	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	L	680;343;693	ENSP00000362411:P680L;ENSP00000362409:P693L	ENSP00000362409:P693L	P	-	2	0	FAM129B	129309108	0.053000	0.20554	0.054000	0.19295	0.531000	0.34715	1.085000	0.30840	1.052000	0.40392	0.561000	0.74099	CCG	FAM129B	-	NULL	ENSG00000136830		0.731	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129B	HGNC	protein_coding	OTTHUMT00000054196.1	-	0.00	21	0	G	NM_022833		130269287	-1	tier1	-	no_errors	ENST00000373312	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.034	A
FAM135B	51059	genome.wustl.edu	37	8	139209858	139209858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:139209858G>A	ENST00000395297.1	-	8	894	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	242								p.R242R(2)|p.R242*(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACAGGTCTCGGTGCCACTTG	0.577										HNSCC(54;0.14)																																							4	Substitution - Nonsense(2)|Substitution - coding silent(2)	large_intestine(2)|lung(2)											89.0	105.0	99.0					8																	139209858		2159	4277	6436	SO:0001587	stop_gained	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.724C>T	8.37:g.139209858G>A	ENSP00000378710:p.Arg242*		B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.R242*	ENST00000395297.1	37	c.724	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	39	7.326279	0.98214	.	.	ENSG00000147724	ENST00000395297	.	.	.	4.74	4.74	0.60224	.	0.170571	0.39341	N	0.001383	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.303	13.1038	0.59235	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000276737:R242X	R	-	1	2	FAM135B	139279040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.019000	0.49635	2.473000	0.83533	0.563000	0.77884	CGA	FAM135B	-	NULL	ENSG00000147724		0.577	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0.00	41	0	G	NM_015912		139209858	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	nonsense	36.36	21	12	SNP	1.000	A
FAM160A2	84067	genome.wustl.edu	37	11	6245433	6245433	+	Missense_Mutation	SNP	C	C	A	rs566797155	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6245433C>A	ENST00000449352.2	-	3	447	c.184G>T	c.(184-186)Ggt>Tgt	p.G62C	FAM160A2_ENST00000265978.4_Missense_Mutation_p.G62C|FAM160A2_ENST00000524416.1_Missense_Mutation_p.G62C			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	62					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGTCTGCACCCCCAGGAGCT	0.572																																																	0													47.0	47.0	47.0					11																	6245433		2201	4296	6497	SO:0001583	missense	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.184G>T	11.37:g.6245433C>A	ENSP00000416918:p.Gly62Cys		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.G62C	ENST00000449352.2	37	c.184	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947716	0.53186	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.15256	3.05;3.06;2.44	4.45	4.45	0.53987	.	0.329760	0.28796	N	0.014105	T	0.22085	0.0532	N	0.22421	0.69	0.37253	D	0.906641	D;D;D	0.71674	0.99;0.963;0.998	P;P;D	0.64321	0.865;0.719;0.924	T	0.04946	-1.0916	10	0.52906	T	0.07	-17.2555	8.2588	0.31773	0.0:0.8949:0.0:0.1051	.	62;62;62	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	C	62	ENSP00000416918:G62C;ENSP00000265978:G62C;ENSP00000431773:G62C	ENSP00000265978:G62C	G	-	1	0	FAM160A2	6202009	0.596000	0.26866	1.000000	0.80357	0.998000	0.95712	0.274000	0.18680	2.320000	0.78422	0.655000	0.94253	GGT	FAM160A2	-	NULL	ENSG00000051009		0.572	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	-	0.00	39	0	C	NM_032127		6245433	-1	tier1	-	no_errors	ENST00000265978	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	A
FAM160B1	57700	genome.wustl.edu	37	10	116621264	116621264	+	Missense_Mutation	SNP	G	G	A	rs138422469		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:116621264G>A	ENST00000369248.4	+	17	2598	c.2263G>A	c.(2263-2265)Gca>Aca	p.A755T	FAM160B1_ENST00000369250.3_Intron	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	755										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GGCGGCAATCGCATTTGTAAA	0.393																																																	0													119.0	107.0	111.0					10																	116621264		2203	4300	6503	SO:0001583	missense	0			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.2263G>A	10.37:g.116621264G>A	ENSP00000358251:p.Ala755Thr		Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.A755T	ENST00000369248.4	37	c.2263	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.451765	0.96205	.	.	ENSG00000151553	ENST00000369248	T	0.53640	0.61	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.67700	2.07	0.80722	D	1	D	0.76494	0.999	P	0.53450	0.726	T	0.64597	-0.6370	10	0.72032	D	0.01	-22.2956	20.3495	0.98807	0.0:0.0:1.0:0.0	.	755	Q5W0V3	F16B1_HUMAN	T	755	ENSP00000358251:A755T	ENSP00000358251:A755T	A	+	1	0	FAM160B1	116611254	1.000000	0.71417	0.726000	0.30738	0.963000	0.63663	9.827000	0.99397	2.814000	0.96858	0.591000	0.81541	GCA	FAM160B1	-	NULL	ENSG00000151553		0.393	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1		0.00	41	0	G	XM_049351		116621264	+1			no_errors	ENST00000369248	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	A
FAM166B	730112	genome.wustl.edu	37	9	35563286	35563286	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:35563286G>T	ENST00000399742.2	-	2	233	c.163C>A	c.(163-165)Cct>Act	p.P55T	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	55										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CGGTGGACAGGGGGCCAGGCT	0.617																																																	0													85.0	95.0	92.0					9																	35563286		2096	4218	6314	SO:0001583	missense	0			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.163C>A	9.37:g.35563286G>T	ENSP00000382646:p.Pro55Thr		A1L3B2|B7ZBJ0	Missense_Mutation	SNP	pfam_UPF0573/UPF0605	p.P55T	ENST00000399742.2	37	c.163	CCDS56572.1	9	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183392	0.78677	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	T	0.40756	1.02	5.9	5.9	0.94986	.	.	.	.	.	T	0.65165	0.2665	M	0.75264	2.295	0.38764	D	0.954395	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.986;0.999	T	0.67692	-0.5605	9	0.52906	T	0.07	-11.4558	15.7632	0.78103	0.0:0.0:1.0:0.0	.	55;55;55;55	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	T	55	ENSP00000382646:P55T	ENSP00000382646:P55T	P	-	1	0	FAM166B	35553286	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.725000	0.54970	2.788000	0.95919	0.655000	0.94253	CCT	FAM166B	-	pfam_UPF0573/UPF0605	ENSG00000215187		0.617	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM166B	HGNC	protein_coding	OTTHUMT00000336563.1		0.00	42	0	G	NM_001099951		35563286	-1			no_errors	ENST00000447837	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
FAM172A	83989	genome.wustl.edu	37	5	93217282	93217282	+	Missense_Mutation	SNP	C	C	T	rs373351314		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:93217282C>T	ENST00000395965.3	-	7	822	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	FAM172A_ENST00000505869.1_Missense_Mutation_p.R117Q|FAM172A_ENST00000509739.1_Missense_Mutation_p.R80Q|FAM172A_ENST00000509163.1_Missense_Mutation_p.R181Q	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	227						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TTTTCTTTCCCGTTTTTCTGC	0.343																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,4404		0,0,2202	203.0	194.0	197.0		542,350,680	4.6	1.0	5		197	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FAM172A	NM_001163417.1,NM_001163418.1,NM_032042.5	43,43,43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	181/371,117/307,227/417	93217282	1,13003	2202	4300	6502	SO:0001583	missense	0				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.680G>A	5.37:g.93217282C>T	ENSP00000379294:p.Arg227Gln		B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.R227Q	ENST00000395965.3	37	c.680	CCDS4069.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.149004	0.94645	0.0	1.16E-4	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	4.63	4.63	0.57726	.	0.092518	0.64402	D	0.000001	T	0.29620	0.0739	N	0.19112	0.55	0.58432	D	0.999994	D;D;P;D	0.76494	0.998;0.998;0.908;0.999	P;D;B;D	0.77557	0.895;0.986;0.326;0.99	T	0.06162	-1.0842	10	0.12430	T	0.62	-11.7218	17.8276	0.88671	0.0:1.0:0.0:0.0	.	80;117;227;227	B4DMI0;B4DJ14;Q8WUF8;Q8WUF8-2	.;.;F172A_HUMAN;.	Q	227;117;80;181	ENSP00000379294:R227Q;ENSP00000426284:R117Q;ENSP00000421834:R80Q;ENSP00000423841:R181Q	ENSP00000379294:R227Q	R	-	2	0	FAM172A	93243038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.026000	0.64103	2.273000	0.75805	0.650000	0.86243	CGG	FAM172A	-	NULL	ENSG00000113391		0.343	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3	-	0.00	63	0	C	NM_032042		93217282	-1	tier1	-	no_errors	ENST00000395965	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	T
FAM179A	165186	genome.wustl.edu	37	2	29240775	29240775	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:29240775G>T	ENST00000379558.4	+	10	1664	c.1313G>T	c.(1312-1314)aGc>aTc	p.S438I	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	438										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCCTGCCCAGCATCCCCATC	0.687																																																	0													16.0	20.0	19.0					2																	29240775		1965	4144	6109	SO:0001583	missense	0			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1313G>T	2.37:g.29240775G>T	ENSP00000368876:p.Ser438Ile		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.S438I	ENST00000379558.4	37	c.1313	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312297	0.23908	.	.	ENSG00000189350	ENST00000379558	T	0.14893	2.47	4.26	2.38	0.29361	.	.	.	.	.	T	0.11324	0.0276	N	0.24115	0.695	0.80722	D	1	P	0.40875	0.731	B	0.38428	0.273	T	0.09185	-1.0686	9	0.56958	D	0.05	.	9.5476	0.39291	0.0811:0.1429:0.776:0.0	.	438	Q6ZUX3	F179A_HUMAN	I	438	ENSP00000368876:S438I	ENSP00000368876:S438I	S	+	2	0	FAM179A	29094279	1.000000	0.71417	0.999000	0.59377	0.012000	0.07955	2.663000	0.46774	0.498000	0.27948	-0.302000	0.09304	AGC	FAM179A	-	NULL	ENSG00000189350		0.687	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	-	0.00	34	0	G	NM_199280		29240775	+1	tier1	-	no_errors	ENST00000379558	ensembl	human	known	74_37	missense	16.67	25	5	SNP	1.000	T
FAM182B	728882	genome.wustl.edu	37	20	25847712	25847712	+	Intron	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:25847712T>C	ENST00000478164.1	-	1	198				FAM182B_ENST00000376404.2_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B											lung(1)	1						CCTGACGGACTGGGAAGTCAT	0.567																																																	0																																										SO:0001627	intron_variant	0					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000478164.1:c.794+876A>G	20.37:g.25847712T>C			Q4G0Q1	RNA	SNP	-	NULL	ENST00000478164.1	37	NULL		20																																																																																			FAM182B	-	-	ENSG00000175170		0.567	FAM182B-005	KNOWN	basic	processed_transcript	FAM182B	HGNC	protein_coding	OTTHUMT00000316665.1	-	0.00	26	0	T	NR_026714		25847712	-1	tier1	-	no_errors	ENST00000424021	ensembl	human	known	74_37	rna	41.18	10	7	SNP	0.003	C
FAM193A	8603	genome.wustl.edu	37	4	2695555	2695555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:2695555delC	ENST00000324666.5	+	14	2524	c.2173delC	c.(2173-2175)cccfs	p.P726fs	FAM193A_ENST00000505311.1_Frame_Shift_Del_p.P726fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.P726fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.P748fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.P726fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	726										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TGCACCCCTACCCCCGGCCAC	0.557																																																	0													93.0	89.0	90.0					4																	2695555		2203	4300	6503	SO:0001589	frameshift_variant	0			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2173delC	4.37:g.2695555delC	ENSP00000324587:p.Pro726fs		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Del	DEL	NULL	p.P726fs	ENST00000324666.5	37	c.2173	CCDS58875.1	4																																																																																			FAM193A	-	NULL	ENSG00000125386		0.557	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1		0.00	50	0	C	NM_003704		2695555	+1	tier1		no_errors	ENST00000324666	ensembl	human	known	74_37	frame_shift_del	21.62	29	8	DEL	0.084	-
FAM20C	56975	genome.wustl.edu	37	7	208908	208908	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:208908delG	ENST00000313766.5	+	3	1026	c.795delG	c.(793-795)tcgfs	p.S265fs		NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	265					dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		CCATGAAGTCGGGGGGCACGC	0.602																																																	0													41.0	49.0	46.0					7																	208908		2071	4191	6262	SO:0001589	frameshift_variant	0			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"""dentin matrix protein 4"""	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.795delG	7.37:g.208908delG	ENSP00000322323:p.Ser265fs		A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Frame_Shift_Del	DEL	pfam_DUF1193	p.G267fs	ENST00000313766.5	37	c.795	CCDS47522.1	7																																																																																			FAM20C	-	NULL	ENSG00000177706		0.602	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20C	HGNC	protein_coding	OTTHUMT00000322476.2		0.00	54	0	G	NM_020223		208908	+1	tier1		no_errors	ENST00000313766	ensembl	human	known	74_37	frame_shift_del	17.95	32	7	DEL	0.007	-
FAM214B	80256	genome.wustl.edu	37	9	35106613	35106613	+	Silent	SNP	C	C	T	rs370170024		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:35106613C>T	ENST00000378561.1	-	4	4036	c.981G>A	c.(979-981)ggG>ggA	p.G327G	FAM214B_ENST00000488109.2_Silent_p.G327G|FAM214B_ENST00000605244.1_Silent_p.G327G|FAM214B_ENST00000322813.5_Silent_p.G327G|FAM214B_ENST00000378566.1_Silent_p.G22G|FAM214B_ENST00000603301.1_Silent_p.G327G|FAM214B_ENST00000378554.2_Silent_p.G327G|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378557.1_Silent_p.G327G			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	327						nucleus (GO:0005634)											GCAGGCCTGGCCCCTTCCGGA	0.617																																																	0													10.0	12.0	11.0					9																	35106613		2170	4261	6431	SO:0001819	synonymous_variant	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.981G>A	9.37:g.35106613C>T			B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Silent	SNP	NULL	p.G327	ENST00000378561.1	37	c.981	CCDS6578.1	9																																																																																			FAM214B	-	NULL	ENSG00000005238		0.617	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1	-	0.00	89	0	C	NM_025182		35106613	-1	tier1	-	no_errors	ENST00000322813	ensembl	human	known	74_37	silent	14.29	66	11	SNP	0.463	T
FAM214B	80256	genome.wustl.edu	37	9	35107838	35107838	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:35107838C>T	ENST00000378561.1	-	2	3489	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	FAM214B_ENST00000488109.2_Missense_Mutation_p.C145Y|FAM214B_ENST00000605244.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000322813.5_Missense_Mutation_p.C145Y|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000603301.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000378554.2_Missense_Mutation_p.C145Y|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378557.1_Missense_Mutation_p.C145Y			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	145						nucleus (GO:0005634)											TGATGGGGGGCAGGGGGGACT	0.627																																																	0													35.0	43.0	40.0					9																	35107838		2202	4296	6498	SO:0001583	missense	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.434G>A	9.37:g.35107838C>T	ENSP00000367823:p.Cys145Tyr		B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	NULL	p.C145Y	ENST00000378561.1	37	c.434	CCDS6578.1	9	.	.	.	.	.	.	.	.	.	.	C	1.548	-0.540011	0.04053	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.63	3.72	0.42706	.	0.619147	0.15461	N	0.261104	T	0.23451	0.0567	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.17018	-1.0383	9	0.54805	T	0.06	-2.9006	9.1786	0.37127	0.3006:0.5684:0.1311:0.0	.	145	Q7L5A3	K1539_HUMAN	Y	145	.	ENSP00000319897:C145Y	C	-	2	0	KIAA1539	35097838	0.161000	0.22892	0.228000	0.23943	0.434000	0.31775	1.096000	0.30976	1.164000	0.42652	0.555000	0.69702	TGC	FAM214B	-	NULL	ENSG00000005238		0.627	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1	-	0.00	82	0	C	NM_025182		35107838	-1	tier1	-	no_errors	ENST00000322813	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.019	T
FAM218A	152756	genome.wustl.edu	37	4	165878577	165878578	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:165878577_165878578insT	ENST00000513876.2	+	1	478_479	c.403_404insT	c.(403-405)cttfs	p.L135fs	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	135																	GTCCCAGCCTCTTTTTGTGACA	0.569																																																	0																																										SO:0001589	frameshift_variant	0			AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 39"""	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.408dupT	4.37:g.165878582_165878582dupT	ENSP00000427428:p.Leu135fs			Frame_Shift_Ins	INS	NULL	p.V137fs	ENST00000513876.2	37	c.403_404	CCDS3807.1	4																																																																																			FAM218A	-	NULL	ENSG00000250486		0.569	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM218A	HGNC	protein_coding	OTTHUMT00000364308.1		0.00	43	0	-	NM_153027		165878578	+1	tier1		no_errors	ENST00000513876	ensembl	human	known	74_37	frame_shift_ins	12.90	27	4	INS	0.000:0.000	T
FAM43B	163933	genome.wustl.edu	37	1	20879658	20879658	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:20879658G>A	ENST00000332947.4	+	1	727	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	64										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		AGAAAGTGGAGCTCAACAAGG	0.692																																																	0													55.0	54.0	54.0					1																	20879658		2203	4300	6503	SO:0001819	synonymous_variant	0			AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.192G>A	1.37:g.20879658G>A			A5PKT8|A5PL01	Silent	SNP	smart_PTB/PI_dom	p.E64	ENST00000332947.4	37	c.192	CCDS209.1	1																																																																																			FAM43B	-	NULL	ENSG00000183114		0.692	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM43B	HGNC	protein_coding	OTTHUMT00000127759.1	-	0.00	64	0	G	NM_207334		20879658	+1	tier1	-	no_errors	ENST00000332947	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	A
FAM45A	404636	genome.wustl.edu	37	10	120896691	120896691	+	3'UTR	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:120896691A>T	ENST00000361432.2	+	0	1632				FAM45A_ENST00000489988.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A											breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AAGTTaaaaaaaaaaaaaaaa	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.*532A>T	10.37:g.120896691A>T			B1AMV6|B4DDC3|D3DRC8|Q9NXW4	RNA	SNP	-	NULL	ENST00000361432.2	37	NULL	CCDS7609.1	10																																																																																			FAM45A	-	-	ENSG00000119979		0.333	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM45A	HGNC	protein_coding	OTTHUMT00000050623.1	-	0.00	89	0	A	NM_207009		120896691	+1	tier1	-	no_errors	ENST00000489988	ensembl	human	known	74_37	rna	29.23	45	19	SNP	0.914	T
FAM53B	9679	genome.wustl.edu	37	10	126370628	126370628	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:126370628C>T	ENST00000337318.3	-	4	665	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.V152I|FAM53B_ENST00000280780.6_Missense_Mutation_p.V152I	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	152								p.V152I(1)		cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TAGCGCTGGACGCTGCCCCCG	0.617																																																	1	Substitution - Missense(1)	lung(1)											33.0	33.0	33.0					10																	126370628		2203	4300	6503	SO:0001583	missense	0			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.454G>A	10.37:g.126370628C>T	ENSP00000338532:p.Val152Ile		D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	NULL	p.V152I	ENST00000337318.3	37	c.454	CCDS7641.1	10	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186872	0.78789	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.52526	0.66;0.66;0.66	4.98	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.65975	2.015	0.48341	D	0.999634	P;P;P	0.45283	0.58;0.855;0.58	B;B;B	0.29942	0.109;0.109;0.109	T	0.48456	-0.9034	10	0.54805	T	0.06	-10.8286	12.0078	0.53270	0.0:0.9201:0.0:0.0799	.	152;152;152	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	I	152	ENSP00000338532:V152I;ENSP00000376509:V152I;ENSP00000280780:V152I	ENSP00000280780:V152I	V	-	1	0	FAM53B	126360618	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	5.798000	0.69095	1.466000	0.48025	0.655000	0.94253	GTC	FAM53B	-	NULL	ENSG00000189319		0.617	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53B	HGNC	protein_coding	OTTHUMT00000050879.1	-	0.00	32	0	C	NM_014661		126370628	-1	tier1	-	no_errors	ENST00000337318	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	T
FAM53C	51307	genome.wustl.edu	37	5	137673882	137673882	+	5'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:137673882C>T	ENST00000239906.5	+	0	162				FAM53C_ENST00000513056.1_5'Flank|CDC25C_ENST00000513970.1_5'UTR|FAM53C_ENST00000434981.2_Intron|FAM53C_ENST00000507506.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C											breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGAGCTGTCCCCCTACTCTCC	0.662																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.-267C>T	5.37:g.137673882C>T			B2RDJ5|D3DQB9	RNA	SNP	-	NULL	ENST00000239906.5	37	NULL	CCDS4204.1	5																																																																																			FAM53C	-	-	ENSG00000120709		0.662	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	HGNC	protein_coding	OTTHUMT00000251278.2	-	0.00	67	0	C	NM_016605		137673882	+1	tier1	-	no_errors	ENST00000505768	ensembl	human	known	74_37	rna	17.19	53	11	SNP	0.000	T
FAM71A	149647	genome.wustl.edu	37	1	212799737	212799737	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:212799737C>T	ENST00000294829.3	+	1	1949	c.1518C>T	c.(1516-1518)caC>caT	p.H506H	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	506						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGACCTCTCACAAATCTGGGA	0.557																																																	0													78.0	67.0	71.0					1																	212799737		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1518C>T	1.37:g.212799737C>T			Q5VTZ1	Silent	SNP	pfam_DUF3699	p.H506	ENST00000294829.3	37	c.1518	CCDS1507.1	1																																																																																			FAM71A	-	NULL	ENSG00000162771		0.557	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	-	0.00	45	0	C	NM_153606		212799737	+1	tier1	-	no_errors	ENST00000294829	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.362	T
FAM83F	113828	genome.wustl.edu	37	22	40417669	40417670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:40417669_40417670insC	ENST00000333407.6	+	4	1249_1250	c.1155_1156insC	c.(1156-1158)cccfs	p.P386fs	FAM83F_ENST00000473717.1_Frame_Shift_Ins_p.P218fs	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	386										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AGCAGGTGCTGCCCCCCGTGGA	0.663																																																	0																																										SO:0001589	frameshift_variant	0				CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1161dupC	22.37:g.40417675_40417675dupC	ENSP00000330432:p.Pro386fs		Q96FD6	Frame_Shift_Ins	INS	pfam_DUF1669	p.V387fs	ENST00000333407.6	37	c.1155_1156	CCDS14000.2	22																																																																																			FAM83F	-	NULL	ENSG00000133477		0.663	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83F	HGNC	protein_coding	OTTHUMT00000319624.3		0.00	84	0	-	NM_138435		40417670	+1	tier1		no_errors	ENST00000333407	ensembl	human	known	74_37	frame_shift_ins	27.85	57	22	INS	0.968:1.000	C
FAM83H	286077	genome.wustl.edu	37	8	144809053	144809053	+	Missense_Mutation	SNP	G	G	A	rs367570466		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:144809053G>A	ENST00000388913.3	-	5	2703	c.2578C>T	c.(2578-2580)Cac>Tac	p.H860Y		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	860					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCACCTGGTGCGCTCCGGAC	0.657																																																	0													18.0	19.0	19.0					8																	144809053		1953	4131	6084	SO:0001583	missense	0			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2578C>T	8.37:g.144809053G>A	ENSP00000373565:p.His860Tyr		A0JLS2|Q8N4W0	Missense_Mutation	SNP	pfam_DUF1669	p.H860Y	ENST00000388913.3	37	c.2578	CCDS6410.2	8	.	.	.	.	.	.	.	.	.	.	g	2.661	-0.279792	0.05642	.	.	ENSG00000180921	ENST00000388913	T	0.14766	2.48	3.61	2.72	0.32119	.	4.740920	0.00575	N	0.000318	T	0.11196	0.0273	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29212	-1.0019	10	0.54805	T	0.06	.	9.0131	0.36153	0.1164:0.0:0.8836:0.0	.	860	Q6ZRV2	FA83H_HUMAN	Y	860	ENSP00000373565:H860Y	ENSP00000373565:H860Y	H	-	1	0	FAM83H	144881041	0.809000	0.29036	0.001000	0.08648	0.010000	0.07245	3.070000	0.50033	0.609000	0.30018	0.486000	0.48141	CAC	FAM83H	-	NULL	ENSG00000180921		0.657	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83H	HGNC	protein_coding	OTTHUMT00000257632.2	-	0.00	60	0	G	NM_198488		144809053	-1	tier1	-	no_errors	ENST00000388913	ensembl	human	known	74_37	missense	8.86	72	7	SNP	0.015	A
FAM90A1	55138	genome.wustl.edu	37	12	8374830	8374830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:8374830delG	ENST00000538603.1	-	7	1541	c.983delC	c.(982-984)ccgfs	p.P328fs	FAM90A1_ENST00000307435.6_Frame_Shift_Del_p.P328fs	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	328							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GAGATTCTCCGGGGCCCCCAG	0.652																																																	0													12.0	13.0	13.0					12																	8374830		2142	4226	6368	SO:0001589	frameshift_variant	0			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.983delC	12.37:g.8374830delG	ENSP00000445418:p.Pro328fs		D3DUU9|Q9NVZ6	Frame_Shift_Del	DEL	NULL	p.P328fs	ENST00000538603.1	37	c.983	CCDS31738.1	12																																																																																			FAM90A1	-	NULL	ENSG00000171847		0.652	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM90A1	HGNC	protein_coding	OTTHUMT00000400468.1		0.00	197	0	G	NM_018088		8374830	-1			no_errors	ENST00000307435	ensembl	human	known	74_37	frame_shift_del	9.28	176	18	DEL	0.001	0
FANCM	57697	genome.wustl.edu	37	14	45644288	45644288	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:45644288T>C	ENST00000267430.5	+	14	2416	c.2331T>C	c.(2329-2331)taT>taC	p.Y777Y	FANCM_ENST00000542564.2_Silent_p.Y751Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	777					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						AATGCAGCTATGAATTGGAAG	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													56.0	56.0	56.0					14																	45644288		2202	4298	6500	SO:0001819	synonymous_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.2331T>C	14.37:g.45644288T>C			B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y777	ENST00000267430.5	37	c.2331	CCDS32070.1	14																																																																																			FANCM	-	NULL	ENSG00000187790		0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0.00	38	0	T	XM_048128		45644288	+1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	silent	25.64	29	10	SNP	1.000	C
FARSB	10056	genome.wustl.edu	37	2	223507641	223507641	+	Silent	SNP	G	G	A	rs201304892		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:223507641G>A	ENST00000281828.6	-	3	461	c.198C>T	c.(196-198)gaC>gaT	p.D66D	FARSB_ENST00000536361.1_De_novo_Start_OutOfFrame	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	66					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TGGCAGGGACGTCAATTTTGT	0.383																																																	0								G		0,4406		0,0,2203	91.0	86.0	87.0		198	-9.1	0.3	2		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FARSB	NM_005687.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		66/590	223507641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.198C>T	2.37:g.223507641G>A			B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	p.D66	ENST00000281828.6	37	c.198	CCDS2454.1	2																																																																																			FARSB	-	superfamily_DNA-bd_dom_put,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	ENSG00000116120		0.383	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	HGNC	protein_coding	OTTHUMT00000256855.2	-	0.00	78	0	G	NM_005687		223507641	-1	tier1	rs201304892	no_errors	ENST00000281828	ensembl	human	known	74_37	silent	23.68	58	18	SNP	0.041	A
FAT2	2196	genome.wustl.edu	37	5	150885626	150885626	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:150885626T>C	ENST00000261800.5	-	23	12562	c.12550A>G	c.(12550-12552)Act>Gct	p.T4184A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4184					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGTAAGTAGGGGGCCAG	0.597																																																	0													59.0	70.0	66.0					5																	150885626		2117	4226	6343	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12550A>G	5.37:g.150885626T>C	ENSP00000261800:p.Thr4184Ala		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T4184A	ENST00000261800.5	37	c.12550	CCDS4317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.142|3.142	-0.176189|-0.176189	0.06380|0.06380	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.69926|.	-0.44|.	5.02|5.02	0.559|0.559	0.17272|0.17272	.|.	0.443212|.	0.20296|.	N|.	0.095137|.	T|T	0.23926|0.23926	0.0579|0.0579	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.25433|0.25433	-1.0132|-1.0132	10|5	0.34782|.	T|.	0.22|.	.|.	5.7839|5.7839	0.18322|0.18322	0.2358:0.0:0.2192:0.545|0.2358:0.0:0.2192:0.545	.|.	4184;1289|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	A|C	4184|956	ENSP00000261800:T4184A|.	ENSP00000261800:T4184A|.	T|Y	-|-	1|2	0|0	FAT2|FAT2	150865819|150865819	0.002000|0.002000	0.14202|0.14202	0.061000|0.061000	0.19648|0.19648	0.096000|0.096000	0.18686|0.18686	0.300000|0.300000	0.19156|0.19156	0.722000|0.722000	0.32252|0.32252	0.459000|0.459000	0.35465|0.35465	ACT|TAC	FAT2	-	NULL	ENSG00000086570		0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1		0.00	57	0	T	NM_001447		150885626	-1			no_errors	ENST00000261800	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.000	C
FAT2	2196	genome.wustl.edu	37	5	150923671	150923671	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:150923671A>G	ENST00000261800.5	-	9	7029	c.7017T>C	c.(7015-7017)taT>taC	p.Y2339Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2339	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGGGCTTCATAATCCAGTT	0.463																																																	0													114.0	109.0	111.0					5																	150923671		2203	4300	6503	SO:0001819	synonymous_variant	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7017T>C	5.37:g.150923671A>G			O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Y2339	ENST00000261800.5	37	c.7017	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0.00	46	0	A	NM_001447		150923671	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	silent	15.56	38	7	SNP	0.998	G
FAT3	120114	genome.wustl.edu	37	11	92507205	92507206	+	Splice_Site	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:92507205_92507206insG	ENST00000298047.6	+	6	4212		c.e6-1		FAT3_ENST00000525166.1_Splice_Site|FAT3_ENST00000409404.2_Splice_Site			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3						homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAATCATCAGGGGGGAATTT	0.366										TCGA Ovarian(4;0.039)																																							0																																										SO:0001630	splice_region_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4196-1->G	11.37:g.92507211_92507211dupG			B5MDB0|Q96AU6	Splice_Site	INS	-	e6-1	ENST00000298047.6	37	c.4196-2_4196-1		11																																																																																			FAT3	-	-	ENSG00000165323		0.366	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding			0.00	52	0	-	NM_001008781	Intron	92507206	+1	tier1		no_errors	ENST00000298047	ensembl	human	known	74_37	splice_site_ins	30.19	37	16	INS	1.000:1.000	G
FAT3	120114	genome.wustl.edu	37	11	92570878	92570878	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:92570878C>T	ENST00000298047.6	+	16	10291	c.10274C>T	c.(10273-10275)gCa>gTa	p.A3425V	FAT3_ENST00000525166.1_Missense_Mutation_p.A3275V|FAT3_ENST00000409404.2_Missense_Mutation_p.A3425V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3425	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGCATTCCTGCAATGTCATCA	0.473										TCGA Ovarian(4;0.039)																																							0													128.0	128.0	128.0					11																	92570878		1999	4168	6167	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10274C>T	11.37:g.92570878C>T	ENSP00000298047:p.Ala3425Val		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A3425V	ENST00000298047.6	37	c.10274		11	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074419	0.55646	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53206	0.63;0.63;0.63	4.79	2.78	0.32641	.	.	.	.	.	T	0.36496	0.0969	L	0.33668	1.02	0.80722	D	1	B	0.17667	0.023	B	0.19666	0.026	T	0.16958	-1.0385	9	0.52906	T	0.07	.	10.6709	0.45757	0.0:0.8427:0.0:0.1572	.	3425	Q8TDW7-3	.	V	3425;3425;3275	ENSP00000298047:A3425V;ENSP00000387040:A3425V;ENSP00000432586:A3275V	ENSP00000298047:A3425V	A	+	2	0	FAT3	92210526	0.980000	0.34600	0.932000	0.37286	0.850000	0.48378	4.628000	0.61282	0.633000	0.30452	0.650000	0.86243	GCA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.473	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	67	0	C	NM_001008781		92570878	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.910	T
FAT3	120114	genome.wustl.edu	37	11	92616433	92616433	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:92616433C>T	ENST00000298047.6	+	23	12828	c.12811C>T	c.(12811-12813)Ccc>Tcc	p.P4271S	FAT3_ENST00000533797.1_Missense_Mutation_p.P606S|FAT3_ENST00000525166.1_Missense_Mutation_p.P4121S|FAT3_ENST00000409404.2_Missense_Mutation_p.P4271S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4271					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTGAGTCGCCCCGCATCCT	0.657										TCGA Ovarian(4;0.039)																																							0													56.0	70.0	65.0					11																	92616433		2138	4235	6373	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12811C>T	11.37:g.92616433C>T	ENSP00000298047:p.Pro4271Ser		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P4271S	ENST00000298047.6	37	c.12811		11	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472694	0.84640	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.85484	-0.78;-0.8;-0.79;-1.99	5.85	5.85	0.93711	.	.	.	.	.	T	0.81945	0.4930	L	0.48642	1.525	0.80722	D	1	B;B	0.23058	0.079;0.0	B;B	0.20767	0.031;0.0	T	0.75980	-0.3126	9	0.16896	T	0.51	.	20.161	0.98133	0.0:1.0:0.0:0.0	.	4271;4271	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	S	4271;4271;4121;606	ENSP00000298047:P4271S;ENSP00000387040:P4271S;ENSP00000432586:P4121S;ENSP00000436399:P606S	ENSP00000298047:P4271S	P	+	1	0	FAT3	92256081	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	5.857000	0.69525	2.770000	0.95276	0.655000	0.94253	CCC	FAT3	-	NULL	ENSG00000165323		0.657	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	39	0	C	NM_001008781		92616433	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	T
FBF1	85302	genome.wustl.edu	37	17	73910971	73910971	+	Missense_Mutation	SNP	C	C	T	rs200319918	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:73910971C>T	ENST00000586717.1	-	24	2902	c.2629G>A	c.(2629-2631)Ggg>Agg	p.G877R	FBF1_ENST00000389570.4_Missense_Mutation_p.G877R|FBF1_ENST00000319129.5_Missense_Mutation_p.G876R|RP11-552F3.12_ENST00000587556.1_5'Flank			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	877					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CGCTCCTCCCCGCACTTGAGC	0.672																																																	0													23.0	28.0	26.0					17																	73910971		2097	4207	6304	SO:0001583	missense	0			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2629G>A	17.37:g.73910971C>T	ENSP00000465132:p.Gly877Arg		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	superfamily_HRDC-like	p.G877R	ENST00000586717.1	37	c.2629		17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570824	0.86542	.	.	ENSG00000188878	ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.18016	2.24;2.24	5.34	5.34	0.76211	.	.	.	.	.	T	0.32526	0.0832	M	0.62723	1.935	0.36663	D	0.878065	D;D	0.89917	0.999;1.0	D;D	0.75484	0.935;0.986	T	0.23440	-1.0188	9	0.19590	T	0.45	-29.6778	8.2923	0.31965	0.1566:0.7634:0.0:0.0799	.	891;876	Q8TES7-6;A6NLR5	.;.	R	877;876;890	ENSP00000374221:G877R;ENSP00000324292:G876R	ENSP00000324292:G876R	G	-	1	0	FBF1	71422566	0.632000	0.27172	0.999000	0.59377	0.984000	0.73092	3.244000	0.51399	2.503000	0.84419	0.650000	0.86243	GGG	FBF1	-	NULL	ENSG00000188878		0.672	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	-	0.00	146	0	C	NM_001080542		73910971	-1	tier1	-	no_errors	ENST00000389570	ensembl	human	known	74_37	missense	19.13	93	22	SNP	0.981	T
FBLL1	345630	genome.wustl.edu	37	5	167957293	167957293	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:167957293G>A	ENST00000338333.4	+	1	1173	c.784G>A	c.(784-786)Gcc>Acc	p.A262T				A6NHQ2	FBLL1_HUMAN	fibrillarin-like 1	262					rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)										GGCCCTGAACGCCCACACCTT	0.637																																																	0													49.0	45.0	46.0					5																	167957293		876	1991	2867	SO:0001583	missense	0					5q35.1	2013-03-06			ENSG00000188573	ENSG00000188573			35458	other	unknown							Standard	NR_024356		Approved	LOC345630	uc011dep.2	A6NHQ2	OTTHUMG00000157012	ENST00000338333.4:c.784G>A	5.37:g.167957293G>A	ENSP00000473383:p.Ala262Thr			Missense_Mutation	SNP	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	p.A262T	ENST00000338333.4	37	c.784		5																																																																																			FBLL1	-	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	ENSG00000188573		0.637	FBLL1-001	PUTATIVE	basic|appris_principal	protein_coding	FBLL1	HGNC	protein_coding	OTTHUMT00000347089.3	-	0.00	35	0	G	NR_024356		167957293	+1	tier1	-	no_errors	ENST00000338333	ensembl	human	putative	74_37	missense	23.68	28	9	SNP	1.000	A
FBLN2	2199	genome.wustl.edu	37	3	13612491	13612491	+	Frame_Shift_Del	DEL	G	G	-	rs368996190		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:13612491delG	ENST00000295760.7	+	2	705	c.636delG	c.(634-636)ctgfs	p.L212fs	FBLN2_ENST00000404922.3_Frame_Shift_Del_p.L212fs|FBLN2_ENST00000535798.1_Frame_Shift_Del_p.L238fs|FBLN2_ENST00000492059.1_Frame_Shift_Del_p.L212fs	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	212	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CAACAGCCCTGGGGGGTGAGG	0.672																																																	0													18.0	21.0	20.0					3																	13612491		2044	4190	6234	SO:0001589	frameshift_variant	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.636delG	3.37:g.13612491delG	ENSP00000295760:p.Leu212fs		B7Z9C5|Q8IUI0|Q8IUI1	Frame_Shift_Del	DEL	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.G214fs	ENST00000295760.7	37	c.636	CCDS46762.1	3																																																																																			FBLN2	-	NULL	ENSG00000163520		0.672	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3		0.00	43	0	G	NM_001004019		13612491	+1	tier1		no_errors	ENST00000404922	ensembl	human	known	74_37	frame_shift_del	15.09	45	8	DEL	0.000	-
FBN1	2200	genome.wustl.edu	37	15	48784744	48784744	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:48784744delT	ENST00000316623.5	-	24	3223	c.2768delA	c.(2767-2769)aatfs	p.N923fs		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	923	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACACAGGCCATTTTTACACAC	0.358																																																	0													80.0	77.0	78.0					15																	48784744		2198	4296	6494	SO:0001589	frameshift_variant	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2768delA	15.37:g.48784744delT	ENSP00000325527:p.Asn923fs		B2RUU0|D2JYH6|Q15972|Q75N87	Frame_Shift_Del	DEL	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.N923fs	ENST00000316623.5	37	c.2768	CCDS32232.1	15																																																																																			FBN1	-	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.358	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1		0.00	88	0	T			48784744	-1	tier1		no_errors	ENST00000316623	ensembl	human	known	74_37	frame_shift_del	21.54	51	14	DEL	1.000	-
FBN2	2201	genome.wustl.edu	37	5	127873181	127873181	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:127873181C>T	ENST00000508053.1	-	7	1090	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	FBN2_ENST00000508989.1_Missense_Mutation_p.R39Q|FBN2_ENST00000262464.4_Missense_Mutation_p.R39Q			P35556	FBN2_HUMAN	fibrillin 2	39					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGGCTGGGGCCGGGGCGGCTT	0.706																																																	0													8.0	11.0	10.0					5																	127873181		2147	4203	6350	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.116G>A	5.37:g.127873181C>T	ENSP00000424571:p.Arg39Gln		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R39Q	ENST00000508053.1	37	c.116	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139034	0.56936	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.91843	-2.59;-2.59;-2.92;-1.42	4.77	0.552	0.17230	.	0.414976	0.17897	N	0.158325	T	0.79446	0.4447	N	0.08118	0	0.19300	N	0.999975	B;B;B;B	0.14438	0.009;0.0;0.01;0.003	B;B;B;B	0.06405	0.002;0.0;0.001;0.001	T	0.69045	-0.5249	10	0.46703	T	0.11	.	5.5835	0.17262	0.0:0.5846:0.1438:0.2716	.	39;39;39;39	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	Q	39	ENSP00000262464:R39Q;ENSP00000424571:R39Q;ENSP00000425596:R39Q;ENSP00000424753:R39Q	ENSP00000262464:R39Q	R	-	2	0	FBN2	127901080	0.000000	0.05858	0.966000	0.40874	0.905000	0.53344	0.465000	0.22004	0.486000	0.27676	0.591000	0.81541	CGG	FBN2	-	pirsf_FBN	ENSG00000138829		0.706	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0.00	39	0	C	NM_001999		127873181	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.436	T
FBN3	84467	genome.wustl.edu	37	19	8145954	8145954	+	Silent	SNP	G	G	A	rs368025913		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:8145954G>A	ENST00000600128.1	-	59	7800	c.7386C>T	c.(7384-7386)gtC>gtT	p.V2462V	FBN3_ENST00000270509.2_Silent_p.V2462V|FBN3_ENST00000601739.1_Silent_p.V2462V			Q75N90	FBN3_HUMAN	fibrillin 3	2462	EGF-like 40; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCACAGTGTTGACACAGAGGA	0.652																																																	0								G		0,4406		0,0,2203	86.0	75.0	79.0		7386	4.1	1.0	19		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBN3	NM_032447.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2462/2810	8145954	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7386C>T	19.37:g.8145954G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.V2462	ENST00000600128.1	37	c.7386	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000142449		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0.00	96	0	G	NM_032447		8145954	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	silent	10.00	80	9	SNP	1.000	A
FBXO10	26267	genome.wustl.edu	37	9	37541711	37541711	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:37541711G>A	ENST00000432825.2	-	2	103	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	19	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TCGGGAAGGTGCAAGTAGGCT	0.577																																																	0													31.0	32.0	32.0					9																	37541711		2015	4187	6202	SO:0001583	missense	0			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.55C>T	9.37:g.37541711G>A	ENSP00000403802:p.His19Tyr		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2	p.H19Y	ENST00000432825.2	37	c.55	CCDS47966.1	9	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245943	0.59103	.	.	ENSG00000147912	ENST00000432825;ENST00000541607	T;T	0.54479	0.57;1.98	5.84	4.94	0.65067	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.222453	0.45867	D	0.000325	T	0.33265	0.0857	N	0.16368	0.405	0.80722	D	1	B	0.28998	0.23	B	0.32090	0.14	T	0.13872	-1.0493	10	0.02654	T	1	-14.6835	13.2976	0.60307	0.077:0.0:0.923:0.0	.	19	Q9UK96	FBX10_HUMAN	Y	19	ENSP00000403802:H19Y;ENSP00000440061:H19Y	ENSP00000276960:H19Y	H	-	1	0	FBXO10	37531711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.656000	0.67988	2.763000	0.94921	0.650000	0.86243	CAC	FBXO10	-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	ENSG00000147912		0.577	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3	-	0.00	59	0	G			37541711	-1	tier1	-	no_errors	ENST00000432825	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	A
FBXO31	79791	genome.wustl.edu	37	16	87364978	87364978	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:87364978G>T	ENST00000311635.7	-	9	1548	c.1536C>A	c.(1534-1536)gtC>gtA	p.V512V	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	512					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGTGGCCTGGACCCGGCTGT	0.617																																																	0													69.0	56.0	60.0					16																	87364978		2198	4300	6498	SO:0001819	synonymous_variant	0			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1536C>A	16.37:g.87364978G>T			Q5K680|Q8WYV1|Q96D73|Q9UFV4	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.V512	ENST00000311635.7	37	c.1536	CCDS32501.1	16																																																																																			FBXO31	-	NULL	ENSG00000103264		0.617	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	-	0.00	77	0	G	NM_024735		87364978	-1	tier1	-	no_errors	ENST00000311635	ensembl	human	known	74_37	silent	23.64	42	13	SNP	1.000	T
FBXO31	79791	genome.wustl.edu	37	16	87369001	87369001	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:87369001G>T	ENST00000311635.7	-	7	917	c.905C>A	c.(904-906)cCt>cAt	p.P302H	RP11-178L8.4_ENST00000568879.1_5'Flank	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	302					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GAAGAGGCCAGGCTTGATGAG	0.647																																																	0													69.0	58.0	62.0					16																	87369001		2197	4300	6497	SO:0001583	missense	0			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.905C>A	16.37:g.87369001G>T	ENSP00000310841:p.Pro302His		Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.P302H	ENST00000311635.7	37	c.905	CCDS32501.1	16	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883781	0.91814	.	.	ENSG00000103264	ENST00000311635	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72520	-0.4268	9	0.87932	D	0	-20.9696	18.4394	0.90660	0.0:0.0:1.0:0.0	.	302;194	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	H	302	.	ENSP00000310841:P302H	P	-	2	0	FBXO31	85926502	1.000000	0.71417	0.942000	0.38095	0.881000	0.50899	9.640000	0.98453	2.368000	0.80403	0.561000	0.74099	CCT	FBXO31	-	NULL	ENSG00000103264		0.647	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	-	0.00	204	0	G	NM_024735		87369001	-1	tier1	-	no_errors	ENST00000311635	ensembl	human	known	74_37	missense	9.14	169	17	SNP	1.000	T
FBXO7	25793	genome.wustl.edu	37	22	32881117	32881117	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:32881117G>A	ENST00000266087.7	+	4	1035	c.708G>A	c.(706-708)ctG>ctA	p.L236L	FBXO7_ENST00000397426.1_Silent_p.L122L|FBXO7_ENST00000382058.3_Silent_p.L157L	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	236	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTATAAGCTGCAGTACATGC	0.488																																																	0													152.0	129.0	136.0					22																	32881117		2203	4300	6503	SO:0001819	synonymous_variant	0			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.708G>A	22.37:g.32881117G>A			B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.L236	ENST00000266087.7	37	c.708	CCDS13907.1	22																																																																																			FBXO7	-	pfam_FP_dom	ENSG00000100225		0.488	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO7	HGNC	protein_coding	OTTHUMT00000129001.1	-	0.00	53	0	G			32881117	+1	tier1	-	no_errors	ENST00000266087	ensembl	human	known	74_37	silent	14.29	48	8	SNP	1.000	A
FBXW10	10517	genome.wustl.edu	37	17	18647920	18647920	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:18647920C>T	ENST00000395665.4	+	1	584	c.363C>T	c.(361-363)atC>atT	p.I121I	FBXW10_ENST00000308799.4_Silent_p.I121I|FBXW10_ENST00000301938.4_Silent_p.I121I|FBXW10_ENST00000395667.1_Silent_p.I121I			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	121										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGAAAGAGATCTTGTACTGGT	0.463																																																	0													155.0	154.0	154.0					17																	18647920		2203	4298	6501	SO:0001819	synonymous_variant	0			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.363C>T	17.37:g.18647920C>T			C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I121	ENST00000395665.4	37	c.363	CCDS11199.3	17																																																																																			FBXW10	-	NULL	ENSG00000171931		0.463	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	-	0.00	103	0	C	NM_031456		18647920	+1	tier1	-	no_errors	ENST00000308799	ensembl	human	known	74_37	silent	14.06	110	18	SNP	0.005	T
FBXW11	23291	genome.wustl.edu	37	5	171295620	171295620	+	3'UTR	SNP	C	C	T	rs376142107		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:171295620C>T	ENST00000265094.5	-	0	1785				FBXW11_ENST00000296933.6_3'UTR|FBXW11_ENST00000425623.2_3'UTR|FBXW11_ENST00000393802.2_3'UTR	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACCTGAAACGGGTGAAAGT	0.448																																																	0								C	,,	1,4405	2.1+/-5.4	0,1,2202	123.0	116.0	118.0		,,	-0.4	1.0	5		118	0,8600		0,0,4300	no	utr-3,utr-3,utr-3	FBXW11	NM_012300.2,NM_033644.2,NM_033645.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,	171295620	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.*19G>A	5.37:g.171295620C>T			B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	RNA	SNP	-	NULL	ENST00000265094.5	37	NULL	CCDS34289.1	5																																																																																			FBXW11	-	-	ENSG00000072803		0.448	FBXW11-002	KNOWN	basic|CCDS	protein_coding	FBXW11	HGNC	protein_coding	OTTHUMT00000372382.1	-	0.00	38	0	C	NM_012300		171295620	-1	tier1	-	no_errors	ENST00000522376	ensembl	human	known	74_37	rna	38.64	27	17	SNP	0.548	T
FBXW2	26190	genome.wustl.edu	37	9	123550234	123550234	+	Silent	SNP	T	T	C	rs549338236		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:123550234T>C	ENST00000608872.1	-	3	490	c.303A>G	c.(301-303)gcA>gcG	p.A101A	FBXW2_ENST00000340778.5_Silent_p.A101A	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	101	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AATTTTTACATGCAGTCTGCC	0.438																																																	0													114.0	110.0	111.0					9																	123550234		1950	4142	6092	SO:0001819	synonymous_variant	0			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.303A>G	9.37:g.123550234T>C			B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A101	ENST00000608872.1	37	c.303	CCDS43872.1	9																																																																																			FBXW2	-	superfamily_F-box_dom,pfscan_F-box_dom	ENSG00000119402		0.438	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2		0.00	18	0	T			123550234	-1			no_errors	ENST00000608872	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.161	C
FBXW7	55294	genome.wustl.edu	37	4	153244156	153244156	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:153244156delC	ENST00000281708.4	-	12	3230	c.2001delG	c.(1999-2001)gggfs	p.G667fs	RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.G667fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.G667fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.G549fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.G491fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.G587fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	667					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTCCCCCACTCCCCCCACTCT	0.488			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)											173.0	174.0	174.0					4																	153244156		2203	4300	6503	SO:0001589	frameshift_variant	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2001delG	4.37:g.153244156delC	ENSP00000281708:p.Gly667fs		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S668fs	ENST00000281708.4	37	c.2001	CCDS3777.1	4																																																																																			FBXW7	-	smart_WD40_repeat	ENSG00000109670		0.488	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1		0.00	87	0	C			153244156	-1	tier1		no_errors	ENST00000281708	ensembl	human	known	74_37	frame_shift_del	20.83	57	15	DEL	0.990	-
FCGBP	8857	genome.wustl.edu	37	19	40433822	40433822	+	Frame_Shift_Del	DEL	G	G	-	rs375117067		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:40433822delG	ENST00000221347.6	-	2	454	c.447delC	c.(445-447)cccfs	p.P149fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	149	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGAGGTGCCGGGGGGTGTGA	0.607																																																	0													50.0	49.0	49.0					19																	40433822		2203	4300	6503	SO:0001589	frameshift_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.447delC	19.37:g.40433822delG	ENSP00000221347:p.Pro149fs		O95784	Frame_Shift_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_EG-like_dom,smart_VWF_C,smart_VWC_out	p.G150fs	ENST00000221347.6	37	c.447	CCDS12546.1	19																																																																																			FCGBP	-	NULL	ENSG00000090920		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0.00	33	0	G	NM_003890		40433822	-1	tier1		no_errors	ENST00000221347	ensembl	human	known	74_37	frame_shift_del	19.35	25	6	DEL	0.000	-
FCHSD1	89848	genome.wustl.edu	37	5	141028581	141028581	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:141028581G>A	ENST00000435817.2	-	7	569	c.519C>T	c.(517-519)aaC>aaT	p.N173N	FCHSD1_ENST00000519800.1_Silent_p.N171N|FCHSD1_ENST00000523856.1_5'Flank|FCHSD1_ENST00000522783.1_Silent_p.N171N|FCHSD1_ENST00000522126.1_Silent_p.N97N	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	173									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACTTCGGTTTAGCCTGT	0.567																																																	0													139.0	141.0	140.0					5																	141028581		2086	4215	6301	SO:0001819	synonymous_variant	0			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.519C>T	5.37:g.141028581G>A			Q6UX75|Q86Y77|Q9NXX8	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.N173	ENST00000435817.2	37	c.519	CCDS47295.1	5																																																																																			FCHSD1	-	NULL	ENSG00000197948		0.567	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	-	0.00	61	0	G	NM_033449		141028581	-1	tier1	-	no_errors	ENST00000435817	ensembl	human	known	74_37	silent	16.00	42	8	SNP	0.996	A
FEM1A	55527	genome.wustl.edu	37	19	4792689	4792689	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4792689T>C	ENST00000269856.3	+	1	962	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	275					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGCTGCAGCTCCTCCCCAGA	0.652																																																	0													37.0	40.0	39.0					19																	4792689		2203	4300	6503	SO:0001583	missense	0			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.823T>C	19.37:g.4792689T>C	ENSP00000269856:p.Ser275Pro		B2RDI3|Q711P8|Q9NPN7|Q9NPW8	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.S275P	ENST00000269856.3	37	c.823	CCDS12135.1	19	.	.	.	.	.	.	.	.	.	.	T	4.804	0.149441	0.09185	.	.	ENSG00000141965	ENST00000269856	T	0.68331	-0.32	4.19	-3.45	0.04781	.	9.218410	0.02007	N	0.046716	T	0.41282	0.1152	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.66056	D	0.02	.	0.3995	0.00423	0.226:0.2617:0.2496:0.2627	.	275	Q9BSK4	FEM1A_HUMAN	P	275	ENSP00000269856:S275P	ENSP00000269856:S275P	S	+	1	0	FEM1A	4743689	0.000000	0.05858	0.000000	0.03702	0.343000	0.28985	-0.007000	0.12810	-0.217000	0.10033	0.402000	0.26972	TCC	FEM1A	-	NULL	ENSG00000141965		0.652	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1A	HGNC	protein_coding	OTTHUMT00000459000.1	-	0.00	40	0	T			4792689	+1	tier1	-	no_errors	ENST00000269856	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.000	C
FER1L6	654463	genome.wustl.edu	37	8	125033884	125033884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:125033884delA	ENST00000522917.1	+	17	2314	c.2108delA	c.(2107-2109)gaafs	p.E703fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.E703fs|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	703						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AACTTTGTGGAAAAAATCCGC	0.413																																																	0													93.0	89.0	91.0					8																	125033884		1883	4103	5986	SO:0001589	frameshift_variant	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2108delA	8.37:g.125033884delA	ENSP00000428280:p.Glu703fs			Frame_Shift_Del	DEL	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.I705fs	ENST00000522917.1	37	c.2108	CCDS43767.1	8																																																																																			FER1L6	-	NULL	ENSG00000214814		0.413	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1		0.00	47	0	A	NM_001039112		125033884	+1	tier1		no_errors	ENST00000399018	ensembl	human	known	74_37	frame_shift_del	12.00	66	9	DEL	0.993	-
FERMT2	10979	genome.wustl.edu	37	14	53326539	53326542	+	Intron	DEL	TTTT	TTTT	-	rs187048440	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:53326539_53326542delTTTT	ENST00000395631.2	-	14	1944				FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000399304.3_Intron|FERMT2_ENST00000343279.4_Intron|FERMT2_ENST00000553373.1_Intron|FERMT2_ENST00000341590.3_Intron			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AGTACTAttctttttttttttttt	0.446																																																	0																																										SO:0001627	intron_variant	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1728-107AAAA>-	14.37:g.53326547_53326550delTTTT			B5TJY2|Q14840|Q86TY7	RNA	DEL	-	NULL	ENST00000395631.2	37	NULL	CCDS9713.1	14																																																																																			FERMT2	-	-	ENSG00000073712		0.446	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2		0.00	21	0	TTTT	NM_006832		53326542	-1	tier1		no_errors	ENST00000557255	ensembl	human	known	74_37	rna	15.79	16	3	DEL	0.120:0.125:0.144:0.160	-
FEZF2	55079	genome.wustl.edu	37	3	62358148	62358148	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:62358148G>A	ENST00000283268.3	-	2	690	c.396C>T	c.(394-396)ggC>ggT	p.G132G	FEZF2_ENST00000475839.1_Silent_p.G132G|FEZF2_ENST00000486811.1_Silent_p.G132G	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	132					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TGCAGCACACGCCACAGTTGG	0.776																																					NSCLC(170;1772 2053 12525 15604 23984)												0													6.0	8.0	7.0					3																	62358148		2041	4079	6120	SO:0001819	synonymous_variant	0			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.396C>T	3.37:g.62358148G>A			A8K349|Q9BZ91|Q9NWB9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G132	ENST00000283268.3	37	c.396	CCDS2897.1	3																																																																																			FEZF2	-	NULL	ENSG00000153266		0.776	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1		0.00	15	0	G	NM_018008		62358148	-1			no_errors	ENST00000283268	ensembl	human	known	74_37	silent	18.75	12	3	SNP	1.000	A
FGA	2243	genome.wustl.edu	37	4	155505987	155505988	+	Splice_Site	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:155505987_155505988insA	ENST00000302053.3	-	6	1970		c.e6-2			NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain						blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATCACAGTCTAAAAAAAAAAT	0.366																																					NSCLC(143;340 1922 20892 22370 48145)												0																																										SO:0001630	splice_region_variant	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1892-2->T	4.37:g.155505997_155505997dupA			A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Splice_Site	INS	-	e6-2	ENST00000302053.3	37	c.1892-3_1892-2	CCDS3787.1	4																																																																																			FGA	-	-	ENSG00000171560		0.366	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1		0.00	39	0	-	NM_000508	Intron	155505988	-1	tier1		no_errors	ENST00000302053	ensembl	human	known	74_37	splice_site_ins	8.70	42	4	INS	1.000:1.000	A
FGD6	55785	genome.wustl.edu	37	12	95501371	95501371	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:95501371G>T	ENST00000343958.4	-	12	3524	c.3301C>A	c.(3301-3303)Cgg>Agg	p.R1101R	FGD6_ENST00000546711.1_Silent_p.R1101R|FGD6_ENST00000549499.1_Silent_p.R1101R	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1101	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATCACTTTCCGAGACAGCTTC	0.418																																																	0													138.0	120.0	126.0					12																	95501371		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3301C>A	12.37:g.95501371G>T			Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R1101	ENST00000343958.4	37	c.3301	CCDS31878.1	12																																																																																			FGD6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000180263		0.418	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1		0.00	38	0	G	NM_018351		95501371	-1			no_errors	ENST00000343958	ensembl	human	known	74_37	silent	12.50	28	4	SNP	1.000	T
FGD6	55785	genome.wustl.edu	37	12	95603382	95603382	+	Missense_Mutation	SNP	G	G	A	rs149076340	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:95603382G>A	ENST00000343958.4	-	2	1901	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.R560W|FGD6_ENST00000549499.1_Missense_Mutation_p.R560W	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	560					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTGAAGCCCGTTTAGGCATA	0.423													G|||	3	0.000599042	0.0008	0.0	5008	,	,		19397	0.002		0.0	False		,,,				2504	0.0																0								G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	88.0	94.0	92.0		1678	5.1	0.4	12	dbSNP_134	92	0,8600		0,0,4300	yes	missense	FGD6	NM_018351.3	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	560/1431	95603382	2,13004	2203	4300	6503	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1678C>T	12.37:g.95603382G>A	ENSP00000344446:p.Arg560Trp		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R560W	ENST00000343958.4	37	c.1678	CCDS31878.1	12	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.94	3.260632	0.59431	4.54E-4	0.0	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.70631	-0.4;-0.5;-0.44	6.04	5.14	0.70334	.	0.861329	0.09697	N	0.767537	T	0.74405	0.3712	L	0.43152	1.355	0.29047	N	0.884715	D	0.76494	0.999	P	0.50490	0.642	T	0.69465	-0.5138	10	0.66056	D	0.02	-0.1208	16.7057	0.85371	0.0:0.0:0.8694:0.1306	.	560	Q6ZV73	FGD6_HUMAN	W	560	ENSP00000344446:R560W;ENSP00000450342:R560W;ENSP00000449005:R560W	ENSP00000344446:R560W	R	-	1	2	FGD6	94127513	0.995000	0.38212	0.405000	0.26409	0.740000	0.42216	2.380000	0.44327	1.536000	0.49237	0.561000	0.74099	CGG	FGD6	-	NULL	ENSG00000180263		0.423	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1		0.00	37	0	G	NM_018351		95603382	-1			no_errors	ENST00000343958	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.922	A
FGF14	2259	genome.wustl.edu	37	13	102568949	102568949	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:102568949G>A	ENST00000376143.4	-	1	46	c.47C>T	c.(46-48)gCg>gTg	p.A16V	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	16					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCTCCCGCGCCTGCCGCTT	0.726																																																	0																																										SO:0001583	missense	0				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.47C>T	13.37:g.102568949G>A	ENSP00000365313:p.Ala16Val		Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.A16V	ENST00000376143.4	37	c.47	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835247	0.50951	.	.	ENSG00000102466	ENST00000376143	T	0.76839	-1.05	5.06	5.06	0.68205	.	.	.	.	.	T	0.65260	0.2674	N	0.25286	0.73	0.58432	D	0.999992	B	0.32350	0.366	B	0.25614	0.062	T	0.63453	-0.6634	9	0.25751	T	0.34	.	18.4321	0.90630	0.0:0.0:1.0:0.0	.	16	Q92915	FGF14_HUMAN	V	16	ENSP00000365313:A16V	ENSP00000365313:A16V	A	-	2	0	FGF14	101366950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.084000	0.76866	2.343000	0.79666	0.563000	0.77884	GCG	FGF14	-	NULL	ENSG00000102466		0.726	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	-	0.00	53	0	G			102568949	-1	tier1	-	no_errors	ENST00000376143	ensembl	human	known	74_37	missense	19.15	30	9	SNP	1.000	A
FGF5	2250	genome.wustl.edu	37	4	81196142	81196142	+	Frame_Shift_Del	DEL	A	A	-	rs35667286		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:81196142delA	ENST00000312465.7	+	2	661	c.435delA	c.(433-435)tcafs	p.S145fs	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_Intron	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	145					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TAGCGATGTCAAAAAAAGGAA	0.328																																																	0													79.0	79.0	79.0					4																	81196142		2203	4300	6503	SO:0001589	frameshift_variant	0			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.435delA	4.37:g.81196142delA	ENSP00000311697:p.Ser145fs		B2R554|O75846|Q3Y8M3|Q8NF90	Frame_Shift_Del	DEL	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.G148fs	ENST00000312465.7	37	c.435	CCDS34021.1	4																																																																																			FGF5	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000138675		0.328	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	HGNC	protein_coding	OTTHUMT00000252627.2		0.00	60	0	A			81196142	+1	tier1		no_errors	ENST00000312465	ensembl	human	known	74_37	frame_shift_del	19.23	42	10	DEL	1.000	-
FGF5	2250	genome.wustl.edu	37	4	81208236	81208236	+	3'UTR	DEL	T	T	-	rs33946030		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:81208236delT	ENST00000312465.7	+	0	1443				FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TTAACTTTTGTTTTTTTTTGT	0.229																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.*410T>-	4.37:g.81208236delT			B2R554|O75846|Q3Y8M3|Q8NF90	RNA	DEL	-	NULL	ENST00000312465.7	37	NULL	CCDS34021.1	4																																																																																			FGF5	-	-	ENSG00000138675		0.229	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	HGNC	protein_coding	OTTHUMT00000252627.2		0.00	63	0	T			81208236	+1	tier1		no_errors	ENST00000503413	ensembl	human	known	74_37	rna	13.43	58	9	DEL	0.035	-
FGFR2	2263	genome.wustl.edu	37	10	123279622	123279622	+	Silent	SNP	G	G	A	rs150488750	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:123279622G>A	ENST00000358487.5	-	7	1082	c.810C>T	c.(808-810)gtC>gtT	p.V270V	FGFR2_ENST00000457416.2_Silent_p.V270V|FGFR2_ENST00000369056.1_Silent_p.V270V|FGFR2_ENST00000346997.2_Silent_p.V270V|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Silent_p.V181V|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000351936.6_Silent_p.V270V|FGFR2_ENST00000357555.5_Silent_p.V181V|FGFR2_ENST00000356226.4_Silent_p.V155V|FGFR2_ENST00000369059.1_Silent_p.V155V|FGFR2_ENST00000478859.1_Silent_p.V42V|FGFR2_ENST00000369060.4_Silent_p.V270V	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	270	Ig-like C2-type 3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CGTCTCCTCCGACCACTGTGG	0.587		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0								G	,,,,,,,,	2,4404	4.2+/-10.8	0,2,2201	95.0	81.0	85.0		810,810,,543,465,810,465,543,810	-4.8	0.7	10	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	,,,,,,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,,,,,	270/822,270/770,,181/708,155/707,270/706,155/705,181/681,270/823	123279622	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.810C>T	10.37:g.123279622G>A			B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V270	ENST00000358487.5	37	c.810	CCDS31298.1	10																																																																																			FGFR2	-	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000066468		0.587	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	-	0.00	71	0	G	NM_022976, NM_000141		123279622	-1	tier1	rs150488750	no_errors	ENST00000457416	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.032	A
FIGNL1	63979	genome.wustl.edu	37	7	50513032	50513032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:50513032G>A	ENST00000419119.1	-	2	3507	c.1954C>T	c.(1954-1956)Cga>Tga	p.R652*	FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.R652*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.R652*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.R652*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	652					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				ACACTAGGTCGCACAGTTCTA	0.388																																																	0													75.0	72.0	73.0					7																	50513032		2203	4300	6503	SO:0001587	stop_gained	0			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1954C>T	7.37:g.50513032G>A	ENSP00000410811:p.Arg652*		D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R652*	ENST00000419119.1	37	c.1954	CCDS5510.1	7	.	.	.	.	.	.	.	.	.	.	G	45	12.010305	0.99626	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4471	19.8676	0.96824	0.0:0.0:1.0:0.0	.	.	.	.	X	652	.	ENSP00000349356:R652X	R	-	1	2	FIGNL1	50480526	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.612000	0.61169	2.941000	0.99782	0.655000	0.94253	CGA	FIGNL1	-	pfam_Vps4_C,superfamily_P-loop_NTPase	ENSG00000132436		0.388	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FIGNL1	HGNC	protein_coding	OTTHUMT00000342579.1	-	0.00	69	0	G	NM_001042762		50513032	-1	tier1	-	no_errors	ENST00000356889	ensembl	human	known	74_37	nonsense	6.85	68	5	SNP	1.000	A
FILIP1	27145	genome.wustl.edu	37	6	76018573	76018573	+	Missense_Mutation	SNP	C	C	T	rs147152005	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:76018573C>T	ENST00000237172.7	-	6	3806	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R1060H|FILIP1_ENST00000393004.2_Missense_Mutation_p.R1159H	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1159										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CATAGGAATGCGGGTGGGTGT	0.507																																																	0								C	HIS/ARG	0,4406		0,0,2203	100.0	98.0	99.0		3476	5.9	1.0	6	dbSNP_134	99	3,8597	3.0+/-9.4	0,3,4297	yes	missense	FILIP1	NM_015687.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	1159/1214	76018573	3,13003	2203	4300	6503	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3476G>A	6.37:g.76018573C>T	ENSP00000237172:p.Arg1159His		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.R1159H	ENST00000237172.7	37	c.3476	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818561	0.90790	0.0	3.49E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.34859	1.37;1.34;1.36	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.988	T	0.51301	-0.8723	10	0.56958	D	0.05	-13.919	20.2896	0.98541	0.0:1.0:0.0:0.0	.	1159;1159;1159	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	H	1159;1159;1060	ENSP00000376728:R1159H;ENSP00000237172:R1159H;ENSP00000359037:R1060H	ENSP00000237172:R1159H	R	-	2	0	FILIP1	76075293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.794000	0.96219	0.655000	0.94253	CGC	FILIP1	-	NULL	ENSG00000118407		0.507	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	-	0.00	98	0	C	XM_029179		76018573	-1	tier1	rs147152005	no_errors	ENST00000237172	ensembl	human	known	74_37	missense	20.55	58	15	SNP	1.000	T
FJX1	24147	genome.wustl.edu	37	11	35642248	35642248	+	3'UTR	DEL	A	A	-	rs201586899|rs3834431|rs532787003	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:35642248delA	ENST00000317811.4	+	0	2514				FJX1_ENST00000532914.1_3'UTR	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)						retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CACCAGAAGGAAAAAAAAAAA	0.294																																					Melanoma(161;10 2587 27165 47356)												0																																										SO:0001624	3_prime_UTR_variant	0			AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.*750A>-	11.37:g.35642248delA			B2RCA9|Q9UGK6	RNA	DEL	-	NULL	ENST00000317811.4	37	NULL	CCDS44570.1	11																																																																																			FJX1	-	-	ENSG00000179431		0.294	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FJX1	HGNC	protein_coding	OTTHUMT00000389078.1		0.00	39	0	A	NM_014344		35642248	+1	tier1		no_errors	ENST00000532914	ensembl	human	putative	74_37	rna	31.11	31	14	DEL	0.000	-
FKBP10	60681	genome.wustl.edu	37	17	39975559	39975559	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:39975559delC	ENST00000321562.4	+	5	929	c.825delC	c.(823-825)ctcfs	p.L275fs	FKBP10_ENST00000544340.1_5'UTR	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	275					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CGCTGGAGCTCCCCCCCGGCT	0.632																																																	0										27,6,4231		0,0,27,3,0,2102	52.0	57.0	55.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		1.8	0.4	17	dbSNP_133	55	15,9,8230		0,0,15,2,5,4105	no	codingComplex	FKBP10	NM_021939.3		0,0,42,5,5,6207	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2908,0.7739,0.4553			39975559	42,15,12461	2203	4300	6503	SO:0001589	frameshift_variant	0			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.825delC	17.37:g.39975559delC	ENSP00000317232:p.Leu275fs		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Frame_Shift_Del	DEL	pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.G278fs	ENST00000321562.4	37	c.825	CCDS11409.1	17																																																																																			FKBP10	-	NULL	ENSG00000141756		0.632	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2		0.00	43	0	C	NM_021939		39975559	+1	tier1		no_errors	ENST00000321562	ensembl	human	known	74_37	frame_shift_del	8.70	42	4	DEL	0.062	-
FKBP15	23307	genome.wustl.edu	37	9	115941002	115941002	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:115941002delT	ENST00000238256.3	-	20	2111	c.1994delA	c.(1993-1995)aagfs	p.K665fs		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	665					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTCTGTTTCCTTTTTTTGGTG	0.498																																																	0										21,3689		9,3,1843	51.0	47.0	49.0			-2.5	1.0	9		49	48,7884		17,14,3935	no	frameshift	FKBP15	NM_015258.1		26,17,5778	A1A1,A1R,RR		0.6051,0.566,0.5927			115941002	69,11573	1938	4146	6084	SO:0001589	frameshift_variant	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1994delA	9.37:g.115941002delT	ENSP00000238256:p.Lys665fs		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Frame_Shift_Del	DEL	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.K665fs	ENST00000238256.3	37	c.1994	CCDS48007.1	9																																																																																			FKBP15	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000119321		0.498	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding			0.00	67	0	T	NM_015258		115941002	-1	tier1		no_errors	ENST00000238256	ensembl	human	known	74_37	frame_shift_del	14.55	47	8	DEL	1.000	-
FKBP5	2289	genome.wustl.edu	37	6	35565028	35565028	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35565028G>T	ENST00000539068.1	-	6	864	c.662C>A	c.(661-663)cCa>cAa	p.P221Q	FKBP5_ENST00000540787.1_Missense_Mutation_p.P42Q|FKBP5_ENST00000536438.1_Missense_Mutation_p.P221Q|FKBP5_ENST00000357266.4_Missense_Mutation_p.P221Q|FKBP5_ENST00000542713.1_Missense_Mutation_p.P221Q	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	221	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TGCTTACCTTGGTCCAAGATA	0.418																																																	0													208.0	184.0	192.0					6																	35565028		2203	4300	6503	SO:0001583	missense	0			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.662C>A	6.37:g.35565028G>T	ENSP00000441205:p.Pro221Gln		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.P221Q	ENST00000539068.1	37	c.662	CCDS4808.1	6	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387358	0.82902	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400;ENST00000542713;ENST00000373875	D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56	5.05	4.16	0.48862	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.066676	0.64402	D	0.000011	D	0.93949	0.8063	M	0.91196	3.185	0.51767	D	0.99993	D;D	0.64830	0.994;0.989	D;P	0.65010	0.931;0.879	D	0.95111	0.8238	10	0.87932	D	0	.	14.0956	0.65019	0.0:0.1503:0.8496:0.0	.	221;221	F5H7R1;Q13451	.;FKBP5_HUMAN	Q	221;221;221;221;42;184;221;219	ENSP00000444810:P221Q;ENSP00000349811:P221Q;ENSP00000441205:P221Q;ENSP00000445412:P42Q;ENSP00000442340:P221Q	ENSP00000338160:P221Q	P	-	2	0	FKBP5	35673006	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.384000	0.90160	1.233000	0.43693	0.561000	0.74099	CCA	FKBP5	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000096060		0.418	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP5	HGNC	protein_coding	OTTHUMT00000040309.2		0.00	75	0	G			35565028	-1			no_errors	ENST00000357266	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
FLNA	2316	genome.wustl.edu	37	X	153581543	153581543	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:153581543delC	ENST00000369850.3	-	38	6288	c.6052delG	c.(6052-6054)gagfs	p.E2018fs	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Frame_Shift_Del_p.E1978fs|FLNA_ENST00000422373.1_Frame_Shift_Del_p.E2010fs|FLNA_ENST00000369856.3_Frame_Shift_Del_p.E151fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.E2010fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2018					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAGGTGCTCCCCCGTCTCC	0.612																																																	0													70.0	75.0	73.0					X																	153581543		2119	4178	6297	SO:0001589	frameshift_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6052delG	X.37:g.153581543delC	ENSP00000358866:p.Glu2018fs		E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E2018fs	ENST00000369850.3	37	c.6052	CCDS48194.1	X																																																																																			FLNA	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3		0.00	76	0	C			153581543	-1	tier1		no_errors	ENST00000369850	ensembl	human	known	74_37	frame_shift_del	13.95	37	6	DEL	1.000	-
FLNB	2317	genome.wustl.edu	37	3	58117681	58117681	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:58117681G>A	ENST00000295956.4	+	26	4555				FLNB_ENST00000357272.4_Intron|FLNB_ENST00000493452.1_Intron|FLNB_ENST00000490882.1_Missense_Mutation_p.R1473H|FLNB_ENST00000358537.3_Intron|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000429972.2_Intron|FLNB_ENST00000419752.2_Intron	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGTCATGGCGCAGCCCCTTG	0.433																																																	0													64.0	59.0	60.0					3																	58117681		692	1591	2283	SO:0001627	intron_variant	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4391-854G>A	3.37:g.58117681G>A			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R1473H	ENST00000295956.4	37	c.4418	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728065	0.69074	.	.	ENSG00000136068	ENST00000490882	D	0.85484	-1.99	5.22	0.514	0.17007	.	.	.	.	.	T	0.74997	0.3790	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61098	-0.7131	8	0.44086	T	0.13	.	5.231	0.15422	0.2695:0.0:0.5958:0.1347	.	1473	B2ZZ83	.	H	1473	ENSP00000420213:R1473H	ENSP00000420213:R1473H	R	+	2	0	FLNB	58092721	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	0.959000	0.29240	-0.216000	0.10048	0.655000	0.94253	CGC	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.433	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	-	0.00	49	0	G	NM_001457		58117681	+1	tier1	-	no_errors	ENST00000490882	ensembl	human	novel	74_37	missense	16.67	35	7	SNP	1.000	A
FLT3	2322	genome.wustl.edu	37	13	28608066	28608066	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:28608066T>C	ENST00000241453.7	-	15	1981	c.1900A>G	c.(1900-1902)Aaa>Gaa	p.K634E	FLT3_ENST00000537084.1_Missense_Mutation_p.K634E|FLT3_ENST00000380982.4_Missense_Mutation_p.K634E	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	634	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTCCTGTTTTGCTAATTCCA	0.428			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													275.0	246.0	256.0					13																	28608066		2203	4300	6503	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1900A>G	13.37:g.28608066T>C	ENSP00000241453:p.Lys634Glu		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K634E	ENST00000241453.7	37	c.1900	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	T	12.23	1.875145	0.33162	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.89050	-2.46;-2.46;-2.46	5.71	2.94	0.34122	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.156946	0.44483	D	0.000453	T	0.77011	0.4068	N	0.13098	0.295	0.38373	D	0.944911	B;B	0.18310	0.027;0.004	B;B	0.19148	0.024;0.011	T	0.70443	-0.4870	10	0.35671	T	0.21	.	7.7387	0.28829	0.0:0.1205:0.1307:0.7488	.	634;634	P36888-2;P36888	.;FLT3_HUMAN	E	634	ENSP00000241453:K634E;ENSP00000370369:K634E;ENSP00000438139:K634E	ENSP00000241453:K634E	K	-	1	0	FLT3	27506066	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.963000	0.49184	0.975000	0.38392	0.528000	0.53228	AAA	FLT3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000122025		0.428	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	-	0.00	64	0	T			28608066	-1	tier1	-	no_errors	ENST00000380982	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	C
FLT4	2324	genome.wustl.edu	37	5	180038335	180038335	+	Missense_Mutation	SNP	C	C	T	rs369284915		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:180038335C>T	ENST00000261937.6	-	27	3760	c.3682G>A	c.(3682-3684)Gcc>Acc	p.A1228T	FLT4_ENST00000393347.3_Missense_Mutation_p.A1228T|FLT4_ENST00000502649.1_Missense_Mutation_p.A1228T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1228					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGACCTGGCGGCCAGGCTG	0.607																																					Colon(97;1075 1466 27033 27547 35871)												0								C	THR/ALA,THR/ALA	0,4406		0,0,2203	75.0	79.0	77.0		3682,3682	3.6	0.9	5		77	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FLT4	NM_182925.4,NM_002020.4	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1228/1364,1228/1299	180038335	1,13005	2203	4300	6503	SO:0001583	missense	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3682G>A	5.37:g.180038335C>T	ENSP00000261937:p.Ala1228Thr		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.A1228T	ENST00000261937.6	37	c.3682	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161668	0.21538	0.0	1.16E-4	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.76839	-1.05;-1.05;-1.04	4.48	3.61	0.41365	.	.	.	.	.	T	0.55924	0.1951	N	0.08118	0	0.33064	D	0.534436	B;B	0.22683	0.007;0.073	B;B	0.17098	0.002;0.017	T	0.56450	-0.7977	9	0.12766	T	0.61	.	11.3129	0.49375	0.0:0.9144:0.0:0.0856	.	1228;1228	E9PD35;P35916	.;VGFR3_HUMAN	T	1228	ENSP00000261937:A1228T;ENSP00000377016:A1228T;ENSP00000426057:A1228T	ENSP00000261937:A1228T	A	-	1	0	FLT4	179970941	0.952000	0.32445	0.854000	0.33618	0.587000	0.36485	1.971000	0.40530	1.244000	0.43870	0.555000	0.69702	GCC	FLT4	-	NULL	ENSG00000037280		0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	-	0.00	68	0	C			180038335	-1	tier1	-	no_errors	ENST00000261937	ensembl	human	known	74_37	missense	11.59	61	8	SNP	0.895	T
FLT4	2324	genome.wustl.edu	37	5	180050970	180050970	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:180050970C>T	ENST00000261937.6	-	11	1591	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	FLT4_ENST00000393347.3_Missense_Mutation_p.D505N|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.D505N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	505	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCAGGTGTCCAGGCTCTCG	0.632																																					Colon(97;1075 1466 27033 27547 35871)												0													103.0	87.0	92.0					5																	180050970		2202	4300	6502	SO:0001583	missense	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1513G>A	5.37:g.180050970C>T	ENSP00000261937:p.Asp505Asn		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.D505N	ENST00000261937.6	37	c.1513	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714712	0.89112	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.94457	-3.43;-3.43;-3.43	4.72	4.72	0.59763	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95401	0.8507	L	0.46157	1.445	0.52501	D	0.999951	D;B;B;B	0.69078	0.997;0.036;0.013;0.082	D;B;B;B	0.65233	0.933;0.065;0.065;0.065	D	0.93639	0.6963	9	0.20519	T	0.43	.	18.0527	0.89354	0.0:1.0:0.0:0.0	.	505;315;505;505	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	N	505;505;505;315	ENSP00000261937:D505N;ENSP00000377016:D505N;ENSP00000426057:D505N	ENSP00000261937:D505N	D	-	1	0	FLT4	179983576	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.685000	0.61693	2.353000	0.79882	0.561000	0.74099	GAC	FLT4	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000037280		0.632	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	-	0.00	112	0	C			180050970	-1	tier1	-	no_errors	ENST00000261937	ensembl	human	known	74_37	missense	13.48	77	12	SNP	1.000	T
FLVCR2	55640	genome.wustl.edu	37	14	76045399	76045399	+	Silent	SNP	G	G	A	rs548569935	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:76045399G>A	ENST00000238667.4	+	1	440	c.84G>A	c.(82-84)tcG>tcA	p.S28S	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	28	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCAGCGTCTCGGTCCATCCCA	0.637																																																	0													92.0	97.0	95.0					14																	76045399		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.84G>A	14.37:g.76045399G>A			B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom	p.S28	ENST00000238667.4	37	c.84	CCDS9844.1	14																																																																																			FLVCR2	-	superfamily_Trimer_LpxA-like	ENSG00000119686		0.637	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1	-	0.00	71	0	G	NM_017791		76045399	+1	tier1	-	no_errors	ENST00000238667	ensembl	human	known	74_37	silent	37.50	35	21	SNP	0.002	A
FMN2	56776	genome.wustl.edu	37	1	240256444	240256444	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:240256444G>A	ENST00000319653.9	+	1	1265	c.1035G>A	c.(1033-1035)acG>acA	p.T345T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	345					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTGGGGACACGGATGAGGAGG	0.731																																																	0													5.0	8.0	7.0					1																	240256444		1679	3555	5234	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1035G>A	1.37:g.240256444G>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.T345	ENST00000319653.9	37	c.1035	CCDS31069.2	1																																																																																			FMN2	-	NULL	ENSG00000155816		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	21	0	G	XM_371352		240256444	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	23.53	13	4	SNP	0.003	A
FN1	2335	genome.wustl.edu	37	2	216256480	216256480	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:216256480A>G	ENST00000359671.1	-	25	4119	c.3854T>C	c.(3853-3855)gTc>gCc	p.V1285A	FN1_ENST00000345488.5_Missense_Mutation_p.V1285A|FN1_ENST00000357867.4_Missense_Mutation_p.V1285A|FN1_ENST00000446046.1_Missense_Mutation_p.V1285A|FN1_ENST00000443816.1_Missense_Mutation_p.V1285A|FN1_ENST00000356005.4_Missense_Mutation_p.V1285A|FN1_ENST00000354785.4_Missense_Mutation_p.V1376A|FN1_ENST00000323926.6_Missense_Mutation_p.V1376A|FN1_ENST00000432072.2_Missense_Mutation_p.V1376A|FN1_ENST00000421182.1_Missense_Mutation_p.V1285A|FN1_ENST00000346544.3_Missense_Mutation_p.V1285A|FN1_ENST00000357009.2_Missense_Mutation_p.V1285A|FN1_ENST00000336916.4_Missense_Mutation_p.V1285A			P02751	FINC_HUMAN	fibronectin 1	1285	Cell-attachment.|Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGCCCAGGTGACACGCATGGT	0.463																																																	0													114.0	108.0	110.0					2																	216256480		2203	4300	6503	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3854T>C	2.37:g.216256480A>G	ENSP00000352696:p.Val1285Ala		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.V1376A	ENST00000359671.1	37	c.4127		2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.986740	0.74589	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;-0.03	5.61	5.61	0.85477	.	0.098032	0.43416	D	0.000579	T	0.79569	0.4468	M	0.77820	2.39	0.25639	N	0.986227	D;D;D;D;D;D;D;D;P	0.89917	0.995;0.984;1.0;0.999;0.999;0.999;0.991;0.995;0.902	D;D;D;D;D;D;D;D;P	0.91635	0.995;0.946;0.996;0.998;0.999;0.991;0.995;0.995;0.838	T	0.74087	-0.3778	10	0.56958	D	0.05	.	15.806	0.78513	1.0:0.0:0.0:0.0	.	1376;1376;1285;1285;1285;1285;1285;1285;1376	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.	A	1285;1376;1285;1285;1376;1285;1285;1285;1285;1285;1285;1376;1285;92	ENSP00000394423:V1285A;ENSP00000323534:V1376A;ENSP00000338200:V1285A;ENSP00000350534:V1285A;ENSP00000346839:V1376A;ENSP00000352696:V1285A;ENSP00000265312:V1285A;ENSP00000273049:V1285A;ENSP00000349509:V1285A;ENSP00000410422:V1285A;ENSP00000415018:V1285A;ENSP00000399538:V1376A;ENSP00000348285:V1285A;ENSP00000416139:V92A	ENSP00000323534:V1376A	V	-	2	0	FN1	215964725	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	8.962000	0.93254	2.135000	0.66039	0.528000	0.53228	GTC	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.463	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0.00	50	0	A	NM_212476		216256480	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	missense	17.74	51	11	SNP	1.000	G
FNBP1	23048	genome.wustl.edu	37	9	132720823	132720823	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:132720823C>T	ENST00000446176.2	-	5	541	c.355G>A	c.(355-357)Gat>Aat	p.D119N	FNBP1_ENST00000420781.1_Missense_Mutation_p.D119N|FNBP1_ENST00000355681.3_Missense_Mutation_p.D119N	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	119	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTACGGCCATCGTGAAAGTTC	0.418			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													81.0	79.0	80.0					9																	132720823		1916	4136	6052	SO:0001583	missense	0			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.355G>A	9.37:g.132720823C>T	ENSP00000413625:p.Asp119Asn		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.D119N	ENST00000446176.2	37	c.355	CCDS48040.1	9	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286938	0.80803	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.17854	2.25;2.25;2.25	5.58	5.58	0.84498	.	0.184336	0.56097	D	0.000022	T	0.31071	0.0785	M	0.63843	1.955	0.80722	D	1	P;P;P;P;P;P;B	0.48162	0.669;0.849;0.527;0.905;0.849;0.906;0.132	B;B;B;B;P;B;B	0.49528	0.076;0.203;0.078;0.369;0.614;0.369;0.017	T	0.01951	-1.1241	10	0.87932	D	0	-12.8313	18.1388	0.89631	0.0:1.0:0.0:0.0	.	119;119;119;119;80;119;119	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.;.;.;.;.;.;FNBP1_HUMAN	N	119	ENSP00000413625:D119N;ENSP00000407548:D119N;ENSP00000347907:D119N	ENSP00000347907:D119N	D	-	1	0	FNBP1	131760644	1.000000	0.71417	0.283000	0.24790	0.827000	0.46813	7.182000	0.77689	2.630000	0.89119	0.491000	0.48974	GAT	FNBP1	-	superfamily_Ribosomal_S20	ENSG00000187239		0.418	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	-	0.00	48	0	C			132720823	-1	tier1	-	no_errors	ENST00000446176	ensembl	human	known	74_37	missense	14.06	55	9	SNP	1.000	T
FNDC1	84624	genome.wustl.edu	37	6	159653589	159653589	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:159653589G>A	ENST00000297267.9	+	11	2245	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	682	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R682H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCGTTCTCCGCGACAGAAGC	0.716																																																	1	Substitution - Missense(1)	large_intestine(1)											15.0	18.0	17.0					6																	159653589		1954	4109	6063	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2045G>A	6.37:g.159653589G>A	ENSP00000297267:p.Arg682His		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R682H	ENST00000297267.9	37	c.2045	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251546	0.39797	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.09445	2.98;3.86	4.87	0.863	0.19062	.	0.929336	0.09006	N	0.862294	T	0.02455	0.0075	L	0.34521	1.04	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.13407	0.009;0.002	T	0.45308	-0.9270	10	0.46703	T	0.11	-2.4532	4.2237	0.10570	0.2908:0.1701:0.5391:0.0	.	619;682	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	682;619	ENSP00000297267:R682H;ENSP00000342460:R619H	ENSP00000297267:R682H	R	+	2	0	FNDC1	159573579	0.029000	0.19370	0.000000	0.03702	0.070000	0.16714	2.496000	0.45346	0.488000	0.27723	-0.122000	0.15005	CGC	FNDC1	-	NULL	ENSG00000164694		0.716	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3		0.00	32	0	G	NM_032532		159653589	+1			no_errors	ENST00000297267	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.000	A
FNTB	2342	genome.wustl.edu	37	14	65482414	65482414	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:65482414delC	ENST00000246166.2	+	4	588	c.354delC	c.(352-354)atcfs	p.I118fs	FNTB_ENST00000542227.1_Frame_Shift_Del_p.I72fs|AL139022.1_ENST00000577601.1_RNA|FNTB_ENST00000555742.1_3'UTR|CHURC1-FNTB_ENST00000549987.1_Frame_Shift_Del_p.I153fs|MAX_ENST00000341653.2_Intron|FNTB_ENST00000447296.2_Frame_Shift_Del_p.I152fs	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	118					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATGAACCCATCCCCCAGATAG	0.473																																																	0													116.0	103.0	107.0					14																	65482414		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.354delC	14.37:g.65482414delC	ENSP00000246166:p.Ile118fs		B2RDX6|B4E1A0	Frame_Shift_Del	DEL	pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase	p.Q154fs	ENST00000246166.2	37	c.456	CCDS9769.1	14																																																																																			FNTB	-	superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000257365		0.473	FNTB-001	KNOWN	basic|CCDS	protein_coding	FNTB	HGNC	protein_coding	OTTHUMT00000286392.1		0.00	99	0	C	NM_002028		65482414	+1	tier1		no_errors	ENST00000447296	ensembl	human	known	74_37	frame_shift_del	14.94	74	13	DEL	0.999	-
FOLH1	2346	genome.wustl.edu	37	11	49175878	49175878	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:49175878C>T	ENST00000256999.2	-	16	2050	c.1790G>A	c.(1789-1791)tGt>tAt	p.C597Y	FOLH1_ENST00000340334.7_Missense_Mutation_p.C582Y|FOLH1_ENST00000356696.3_Missense_Mutation_p.C597Y|FOLH1_ENST00000343844.4_Missense_Mutation_p.C289Y|FOLH1_ENST00000533034.1_Missense_Mutation_p.C582Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	597					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ATAATCTCGACAATCAAAAGG	0.383																																																	0													107.0	90.0	96.0					11																	49175878		2201	4295	6496	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1790G>A	11.37:g.49175878C>T	ENSP00000256999:p.Cys597Tyr		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.C597Y	ENST00000256999.2	37	c.1790	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808747	0.50421	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	3.62	3.62	0.41486	Transferrin receptor-like, dimerisation domain (1);	0.000000	0.64402	D	0.000007	T	0.28732	0.0712	N	0.05259	-0.085	0.41612	D	0.988911	D;D;D;B;D	0.89917	0.98;0.999;0.98;0.225;1.0	P;D;P;B;D	0.91635	0.782;0.948;0.844;0.049;0.999	T	0.06041	-1.0849	10	0.09843	T	0.71	.	13.124	0.59342	0.0:1.0:0.0:0.0	.	582;582;597;597;12	Q04609-9;Q04609-7;Q04609-8;Q04609;Q04609-3	.;.;.;FOLH1_HUMAN;.	Y	597;597;582;289;582	ENSP00000256999:C597Y;ENSP00000349129:C597Y;ENSP00000344131:C582Y;ENSP00000344086:C289Y;ENSP00000431463:C582Y	ENSP00000256999:C597Y	C	-	2	0	FOLH1	49132454	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.163000	0.50763	2.044000	0.60594	0.404000	0.27445	TGT	FOLH1	-	superfamily_TFR-like_dimer_dom	ENSG00000086205		0.383	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0.00	40	0	C	NM_004476		49175878	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	missense	26.67	44	16	SNP	1.000	T
FOSL1	8061	genome.wustl.edu	37	11	65660629	65660629	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:65660629delC	ENST00000312562.2	-	4	730	c.544delG	c.(544-546)gacfs	p.D182fs	FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000448083.2_Frame_Shift_Del_p.D80fs|FOSL1_ENST00000531493.1_Frame_Shift_Del_p.D146fs	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	182					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		CTGCCTGTGTCCCCCTCCTTG	0.622																																																	0													38.0	36.0	37.0					11																	65660629		2201	4296	6497	SO:0001589	frameshift_variant	0			BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"""basic leucine zipper proteins"""	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.544delG	11.37:g.65660629delC	ENSP00000310170:p.Asp182fs		B4DR11|Q6FG51	Frame_Shift_Del	DEL	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.D182fs	ENST00000312562.2	37	c.544	CCDS8121.1	11																																																																																			FOSL1	-	NULL	ENSG00000175592		0.622	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSL1	HGNC	protein_coding	OTTHUMT00000391168.2		0.00	42	0	C	NM_005438		65660629	-1	tier1		no_errors	ENST00000312562	ensembl	human	known	74_37	frame_shift_del	25.00	27	9	DEL	0.008	-
FOXC2	2303	genome.wustl.edu	37	16	86602228	86602228	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:86602228C>T	ENST00000320354.4	+	1	1372	c.1287C>T	c.(1285-1287)agC>agT	p.S429S	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	429					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TCAACCACAGCGGGGACCTGA	0.731									Late-onset Hereditary Lymphedema																																								0													16.0	18.0	17.0					16																	86602228		2177	4257	6434	SO:0001819	synonymous_variant	0	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1287C>T	16.37:g.86602228C>T			C6KMR9|Q14DA6	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S429	ENST00000320354.4	37	c.1287	CCDS10958.1	16																																																																																			FOXC2	-	NULL	ENSG00000176692		0.731	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC2	HGNC	protein_coding	OTTHUMT00000269104.2		0.00	21	0	C	NM_005251		86602228	+1			no_errors	ENST00000320354	ensembl	human	known	74_37	silent	25.00	9	3	SNP	1.000	T
FOXD3	27022	genome.wustl.edu	37	1	63789525	63789525	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:63789525G>A	ENST00000371116.2	+	1	796	c.796G>A	c.(796-798)Ggc>Agc	p.G266S	RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	266	Poly-Ala.				embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						ggcggcggccggcgccgcggg	0.766																																					Pancreas(68;276 1750 11966 31252)												0													4.0	5.0	5.0					1																	63789525		1442	3225	4667	SO:0001583	missense	0			AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.796G>A	1.37:g.63789525G>A	ENSP00000360157:p.Gly266Ser		Q9BYM2|Q9UDD1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.G266S	ENST00000371116.2	37	c.796	CCDS624.1	1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033945	0.19590	.	.	ENSG00000187140	ENST00000371116	D	0.94092	-3.35	2.21	-0.0906	0.13664	.	2.420060	0.03084	U	0.158822	T	0.62901	0.2466	N	0.08118	0	0.30072	N	0.809994	D	0.62365	0.991	B	0.37780	0.258	T	0.66803	-0.5831	10	0.07482	T	0.82	.	2.7791	0.05356	0.173:0.0:0.5561:0.2709	.	266	Q9UJU5	FOXD3_HUMAN	S	266	ENSP00000360157:G266S	ENSP00000360157:G266S	G	+	1	0	FOXD3	63562113	0.986000	0.35501	0.797000	0.32132	0.230000	0.25150	-0.229000	0.09098	-0.021000	0.14009	0.460000	0.39030	GGC	FOXD3	-	NULL	ENSG00000187140		0.766	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD3	HGNC	protein_coding	OTTHUMT00000025331.1		0.00	12	0	G			63789525	+1			no_errors	ENST00000371116	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.987	A
FOXG1	2290	genome.wustl.edu	37	14	29237758	29237758	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:29237758T>C	ENST00000313071.4	+	1	1472	c.1273T>C	c.(1273-1275)Tca>Cca	p.S425P	FOXG1_ENST00000382535.3_Missense_Mutation_p.S425P	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	425					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCCGCACCCGTCAATGACTTC	0.657																																																	0													55.0	49.0	51.0					14																	29237758		2203	4300	6503	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1273T>C	14.37:g.29237758T>C	ENSP00000339004:p.Ser425Pro		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S425P	ENST00000313071.4	37	c.1273	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553357	0.27739	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93811	-3.29;-3.29	4.14	4.14	0.48551	.	0.072579	0.56097	U	0.000024	D	0.90810	0.7114	N	0.14661	0.345	0.51233	D	0.999918	D	0.65815	0.995	P	0.56278	0.795	D	0.90504	0.4476	10	0.37606	T	0.19	.	13.4664	0.61256	0.0:0.0:0.0:1.0	.	425	P55316	FOXG1_HUMAN	P	425	ENSP00000371975:S425P;ENSP00000339004:S425P	ENSP00000339004:S425P	S	+	1	0	FOXG1	28307509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.819000	0.62664	1.633000	0.50488	0.402000	0.26972	TCA	FOXG1	-	NULL	ENSG00000176165		0.657	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3		0.00	53	0	T			29237758	+1			no_errors	ENST00000313071	ensembl	human	known	74_37	missense	11.11	48	6	SNP	1.000	C
FOXH1	8928	genome.wustl.edu	37	8	145701036	145701036	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145701036G>A	ENST00000377317.4	-	1	682	c.104C>T	c.(103-105)cCc>cTc	p.P35L	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	35					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTAGGTGTAGGGGGGCTTGTC	0.677																																																	0			GRCh37	CM082691	FOXH1	M							27.0	24.0	25.0					8																	145701036		2146	4207	6353	SO:0001583	missense	0			AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"""Forkhead boxes"""	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.104C>T	8.37:g.145701036G>A	ENSP00000366534:p.Pro35Leu		D3DWM4	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P35L	ENST00000377317.4	37	c.104	CCDS6428.1	8	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546672	0.86022	.	.	ENSG00000160973	ENST00000377317;ENST00000292541	D	0.98381	-4.9	5.3	3.33	0.38152	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	M	0.83692	2.655	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.99184	1.0868	10	0.87932	D	0	-36.2283	11.891	0.52628	0.0:0.0:0.6855:0.3145	.	35	O75593	FOXH1_HUMAN	L	35;62	ENSP00000366534:P35L	ENSP00000292541:P62L	P	-	2	0	FOXH1	145671844	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.104000	0.64584	1.330000	0.45394	0.561000	0.74099	CCC	FOXH1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000160973		0.677	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXH1	HGNC	protein_coding	OTTHUMT00000382451.1	-	0.00	165	0	G			145701036	-1	tier1	-	no_errors	ENST00000377317	ensembl	human	known	74_37	missense	28.95	135	55	SNP	0.992	A
FOXI3	344167	genome.wustl.edu	37	2	88751468	88751468	+	RNA	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:88751468T>C	ENST00000398142.3	-	0	663							A8MTJ6	FOXI3_HUMAN	forkhead box I3						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)	2						GAGCGACAGGTTGTGGCGGAT	0.652																																					Pancreas(81;472 1448 16397 17495 22123)												0													22.0	29.0	27.0					2																	88751468		692	1591	2283			0			BN001221, BN001222		2p11.2	2008-12-18				ENSG00000214336			35123	protein-coding gene	gene with protein product		612351				18787161	Standard	NM_001135649		Approved		uc010ytq.1	A8MTJ6			2.37:g.88751468T>C			B5RI09	RNA	SNP	-	NULL	ENST00000398142.3	37	NULL		2																																																																																			FOXI3	-	-	ENSG00000214336		0.652	FOXI3-001	KNOWN	sequence_error|basic	processed_transcript	FOXI3	HGNC	processed_transcript	OTTHUMT00000338241.2	-	0.00	146	0	T	NM_001135649		88751468	-1	tier1	-	no_errors	ENST00000398142	ensembl	human	known	74_37	rna	11.56	130	17	SNP	1.000	C
FOXI3	344167	genome.wustl.edu	37	2	88751645	88751645	+	RNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:88751645C>T	ENST00000398142.3	-	0	486							A8MTJ6	FOXI3_HUMAN	forkhead box I3						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)	2						CAGGTCCTCGCGGCTGGCCAT	0.736																																					Pancreas(81;472 1448 16397 17495 22123)												0													10.0	12.0	11.0					2																	88751645		687	1591	2278			0			BN001221, BN001222		2p11.2	2008-12-18				ENSG00000214336			35123	protein-coding gene	gene with protein product		612351				18787161	Standard	NM_001135649		Approved		uc010ytq.1	A8MTJ6			2.37:g.88751645C>T			B5RI09	RNA	SNP	-	NULL	ENST00000398142.3	37	NULL		2																																																																																			FOXI3	-	-	ENSG00000214336		0.736	FOXI3-001	KNOWN	sequence_error|basic	processed_transcript	FOXI3	HGNC	processed_transcript	OTTHUMT00000338241.2		0.00	38	0	C	NM_001135649		88751645	-1			no_errors	ENST00000398142	ensembl	human	known	74_37	rna	9.30	39	4	SNP	1.000	T
FOXO3	2309	genome.wustl.edu	37	6	108882886	108882886	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:108882886A>C	ENST00000343882.6	+	2	779	c.475A>C	c.(475-477)Aac>Cac	p.N159H	FOXO3_ENST00000406360.1_Missense_Mutation_p.N159H	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	159				AWGNLSYA -> WGKPVYS (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CGCCTGGGGAAACCTGTCCTA	0.687																																																	0													19.0	16.0	17.0					6																	108882886		2201	4295	6496	SO:0001583	missense	0			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.475A>C	6.37:g.108882886A>C	ENSP00000339527:p.Asn159His		B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.N159H	ENST00000343882.6	37	c.475	CCDS5068.1	6	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582723	0.86748	.	.	ENSG00000118689	ENST00000343882;ENST00000406360	D;D	0.91945	-2.94;-2.94	4.68	4.68	0.58851	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.94853	0.8337	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95281	0.8386	10	0.59425	D	0.04	-3.6628	14.1441	0.65339	1.0:0.0:0.0:0.0	.	159	O43524	FOXO3_HUMAN	H	159	ENSP00000339527:N159H;ENSP00000385824:N159H	ENSP00000339527:N159H	N	+	1	0	FOXO3	108989579	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.133000	0.77259	1.740000	0.51718	0.379000	0.24179	AAC	FOXO3	-	smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000118689		0.687	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO3	HGNC	protein_coding	OTTHUMT00000041722.2	-	0.00	57	0	A			108882886	+1	tier1	-	no_errors	ENST00000343882	ensembl	human	known	74_37	missense	29.09	39	16	SNP	1.000	C
FOXP1	27086	genome.wustl.edu	37	3	71008342	71008345	+	3'UTR	DEL	TTTT	TTTT	-	rs398062446		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:71008342_71008345delTTTT	ENST00000318789.4	-	0	2612_2615				FOXP1_ENST00000491238.1_3'UTR|FOXP1_ENST00000475937.1_3'UTR	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTTTGACGTGTTTTTTTTTTTTTC	0.407			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0																																										SO:0001624	3_prime_UTR_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.*56AAAA>-	3.37:g.71008350_71008353delTTTT			A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	RNA	DEL	-	NULL	ENST00000318789.4	37	NULL	CCDS2914.1	3																																																																																			FOXP1	-	-	ENSG00000114861		0.407	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0.00	36	0	TTTT	NM_032682		71008345	-1	tier1		no_errors	ENST00000460805	ensembl	human	known	74_37	rna	12.82	34	5	DEL	0.439:0.024:0.024:0.017	-
FOXRED2	80020	genome.wustl.edu	37	22	36897401	36897401	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:36897401C>T	ENST00000397224.4	-	5	1196	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	FOXRED2_ENST00000397223.4_Missense_Mutation_p.R368Q|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R368Q|FOXRED2_ENST00000366463.3_5'Flank	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	368					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTAGCTAGCTCGAATCAGCGG	0.527																																																	0													79.0	77.0	78.0					22																	36897401		2203	4300	6503	SO:0001583	missense	0			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1103G>A	22.37:g.36897401C>T	ENSP00000380401:p.Arg368Gln		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.R368Q	ENST00000397224.4	37	c.1103	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454642	0.26161	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.13778	2.56;2.56;2.56	5.56	-0.111	0.13576	.	0.316239	0.36409	N	0.002620	T	0.08268	0.0206	L	0.40543	1.245	0.20074	N	0.999934	P	0.36660	0.564	B	0.21917	0.037	T	0.23511	-1.0186	10	0.34782	T	0.22	-1.6475	10.5753	0.45223	0.0:0.1577:0.0:0.8423	.	368	Q8IWF2	FXRD2_HUMAN	Q	368	ENSP00000380401:R368Q;ENSP00000216187:R368Q;ENSP00000380400:R368Q	ENSP00000216187:R368Q	R	-	2	0	FOXRED2	35227347	0.992000	0.36948	0.235000	0.24058	0.034000	0.12701	0.366000	0.20365	-0.219000	0.10003	0.655000	0.94253	CGA	FOXRED2	-	NULL	ENSG00000100350		0.527	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	-	0.00	69	0	C	NM_024955		36897401	-1	tier1	-	no_errors	ENST00000216187	ensembl	human	known	74_37	missense	16.28	34	7	SNP	0.957	T
FPGT	8790	genome.wustl.edu	37	1	74670324	74670324	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:74670324C>T	ENST00000609362.1	+	4	630	c.593C>T	c.(592-594)aCg>aTg	p.T198M	FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.T211M|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	198					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TCTAGTTTGACGATAGGTACC	0.373																																																	0													112.0	108.0	109.0					1																	74670324		2203	4300	6503	SO:0001583	missense	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.593C>T	1.37:g.74670324C>T	ENSP00000476680:p.Thr198Met		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.T211M	ENST00000609362.1	37	c.632	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	C	2.644	-0.283469	0.05642	.	.	ENSG00000254685	ENST00000370898	T	0.32023	1.47	5.57	2.32	0.28847	L-fucokinase (1);	.	.	.	.	T	0.09905	0.0243	L	0.41236	1.265	0.09310	N	1	P	0.35348	0.496	B	0.35114	0.196	T	0.14144	-1.0483	8	.	.	.	.	6.8104	0.23801	0.1392:0.6481:0.0:0.2127	.	198	O14772	FPGT_HUMAN	M	198	ENSP00000359935:T198M	.	T	+	2	0	TNNI3K	74442912	0.000000	0.05858	0.872000	0.34217	0.127000	0.20565	0.156000	0.16382	1.354000	0.45846	0.591000	0.81541	ACG	FPGT	-	pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase	ENSG00000254685		0.373	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		-	0.00	54	0	C			74670324	+1	tier1	-	no_errors	ENST00000370898	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.018	T
FPR3	2359	genome.wustl.edu	37	19	52327515	52327515	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:52327515G>T	ENST00000339223.4	+	2	693	c.514G>T	c.(514-516)Ggg>Tgg	p.G172W	FPR3_ENST00000595991.1_Missense_Mutation_p.G172W	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	172					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TACTACGAATGGGGACACATA	0.448																																																	0													178.0	162.0	168.0					19																	52327515		2203	4300	6503	SO:0001583	missense	0				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.514G>T	19.37:g.52327515G>T	ENSP00000341821:p.Gly172Trp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.G172W	ENST00000339223.4	37	c.514	CCDS12841.1	19	.	.	.	.	.	.	.	.	.	.	.	11.43	1.637033	0.29157	.	.	ENSG00000187474	ENST00000339223	T	0.38240	1.15	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.167732	0.41823	D	0.000816	T	0.64271	0.2583	H	0.95780	3.72	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55270	-0.8167	10	0.87932	D	0	.	5.0237	0.14374	0.1766:0.0:0.8234:0.0	.	172	P25089	FPR3_HUMAN	W	172	ENSP00000341821:G172W	ENSP00000341821:G172W	G	+	1	0	FPR3	57019327	0.000000	0.05858	0.024000	0.17045	0.062000	0.15995	-0.012000	0.12699	1.323000	0.45263	0.467000	0.42956	GGG	FPR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000187474		0.448	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FPR3	HGNC	protein_coding	OTTHUMT00000466914.1	-	0.00	60	0	G	NM_002030		52327515	+1	tier1	-	no_errors	ENST00000339223	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.000	T
FREM2	341640	genome.wustl.edu	37	13	39262085	39262085	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:39262085G>A	ENST00000280481.7	+	1	820	c.604G>A	c.(604-606)Gcg>Acg	p.A202T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	202					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCCTGGACGCGCGGAGCCT	0.647																																																	0													43.0	43.0	43.0					13																	39262085		2194	4297	6491	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.604G>A	13.37:g.39262085G>A	ENSP00000280481:p.Ala202Thr		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.A202T	ENST00000280481.7	37	c.604	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858961	0.17178	.	.	ENSG00000150893	ENST00000280481	T	0.18810	2.19	5.46	3.6	0.41247	.	0.533362	0.19597	N	0.110491	T	0.12561	0.0305	L	0.28115	0.83	0.19775	N	0.999957	B	0.23650	0.089	B	0.20577	0.03	T	0.24119	-1.0169	10	0.20046	T	0.44	.	7.3895	0.26901	0.0721:0.1332:0.6736:0.1211	.	202	Q5SZK8	FREM2_HUMAN	T	202	ENSP00000280481:A202T	ENSP00000280481:A202T	A	+	1	0	FREM2	38160085	0.075000	0.21258	0.977000	0.42913	0.994000	0.84299	2.478000	0.45189	1.270000	0.44297	0.655000	0.94253	GCG	FREM2	-	NULL	ENSG00000150893		0.647	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0.00	68	0	G	NM_207361		39262085	+1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	8.96	61	6	SNP	0.483	A
FRMD6	122786	genome.wustl.edu	37	14	52169254	52169254	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:52169254A>T	ENST00000344768.5	+	5	515	c.319A>T	c.(319-321)Atg>Ttg	p.M107L	FRMD6_ENST00000356218.4_Missense_Mutation_p.M99L|FRMD6_ENST00000395718.2_Missense_Mutation_p.M99L|FRMD6_ENST00000554167.1_Missense_Mutation_p.M30L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	107	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGGGCCTCCTATGATCATCCA	0.403																																																	0													209.0	215.0	213.0					14																	52169254		2203	4300	6503	SO:0001583	missense	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.319A>T	14.37:g.52169254A>T	ENSP00000343899:p.Met107Leu		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.M107L	ENST00000344768.5	37	c.319	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	A	5.957	0.360625	0.11296	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;1.2;-0.4	5.81	5.81	0.92471	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	N	0.04959	-0.14	0.80722	D	1	B;B;B	0.15719	0.014;0.01;0.008	B;B;B	0.15052	0.007;0.012;0.007	T	0.53927	-0.8369	10	0.02654	T	1	.	16.1623	0.81730	1.0:0.0:0.0:0.0	.	30;107;99	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	L	99;99;107;38;30	ENSP00000348550:M99L;ENSP00000379068:M99L;ENSP00000343899:M107L;ENSP00000451453:M38L;ENSP00000451977:M30L	ENSP00000343899:M107L	M	+	1	0	FRMD6	51239004	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	7.251000	0.78297	2.223000	0.72356	0.533000	0.62120	ATG	FRMD6	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000139926		0.403	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	-	0.00	64	0	A	NM_152330		52169254	+1	tier1	-	no_errors	ENST00000344768	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	T
FRMPD1	22844	genome.wustl.edu	37	9	37737192	37737192	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:37737192C>A	ENST00000539465.1	+	14	2094	c.1501C>A	c.(1501-1503)Ctc>Atc	p.L501I	FRMPD1_ENST00000377765.3_Missense_Mutation_p.L501I|FRMPD1_ENST00000536622.1_Missense_Mutation_p.L323I|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.L370I			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	501						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCCATTTTCCTCTGGCCTGG	0.527																																																	0													108.0	96.0	100.0					9																	37737192		2203	4300	6503	SO:0001583	missense	0			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1501C>A	9.37:g.37737192C>A	ENSP00000444411:p.Leu501Ile		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.L501I	ENST00000539465.1	37	c.1501	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025289	0.35701	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.45	3.48	0.39840	.	0.403653	0.26542	N	0.023797	T	0.05593	0.0147	N	0.08118	0	0.23043	N	0.998388	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.37641	-0.9697	10	0.21014	T	0.42	-3.577	12.1514	0.54051	0.3089:0.6911:0.0:0.0	.	370;501	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	I	501;501;323;370	ENSP00000366995:L501I;ENSP00000444411:L501I;ENSP00000437762:L323I;ENSP00000444804:L370I	ENSP00000366995:L501I	L	+	1	0	FRMPD1	37727192	0.962000	0.33011	1.000000	0.80357	0.973000	0.67179	1.955000	0.40372	1.290000	0.44636	0.591000	0.81541	CTC	FRMPD1	-	NULL	ENSG00000070601		0.527	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	-	0.00	58	0	C	NM_014907		37737192	+1	tier1	-	no_errors	ENST00000377765	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	A
FRMPD2	143162	genome.wustl.edu	37	10	49440276	49440276	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:49440276G>A	ENST00000374201.3	-	10	1352	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	FRMPD2_ENST00000305531.3_Silent_p.N326N|FRMPD2_ENST00000407470.4_Silent_p.N319N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	350	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGTGCTGCCCGTTCAGCAGGA	0.443																																																	0													101.0	93.0	95.0					10																	49440276		2203	4300	6503	SO:0001819	synonymous_variant	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1050C>T	10.37:g.49440276G>A			B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.N350	ENST00000374201.3	37	c.1050	CCDS31195.1	10																																																																																			FRMPD2	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000170324		0.443	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	-	0.00	36	0	G	NM_152428		49440276	-1	tier1	-	no_errors	ENST00000374201	ensembl	human	known	74_37	silent	28.12	23	9	SNP	0.382	A
FSCN3	29999	genome.wustl.edu	37	7	127240252	127240252	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:127240252delG	ENST00000265825.5	+	6	1515	c.1296delG	c.(1294-1296)cagfs	p.Q432fs	FSCN3_ENST00000420086.2_Splice_Site	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	432						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTCCAGCACAGGGGGGATCCT	0.572																																																	0													50.0	48.0	48.0					7																	127240252		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1296delG	7.37:g.127240252delG	ENSP00000265825:p.Gln432fs		A4D0Z2|A6NLL7|B2RA62|B4DU68	Frame_Shift_Del	DEL	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.G434fs	ENST00000265825.5	37	c.1296	CCDS34746.1	7																																																																																			FSCN3	-	superfamily_Actin_cross-linking	ENSG00000106328		0.572	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN3	HGNC	protein_coding	OTTHUMT00000059256.2		0.00	74	0	G	NM_020369		127240252	+1	tier1		no_errors	ENST00000265825	ensembl	human	known	74_37	frame_shift_del	13.73	44	7	DEL	1.000	-
FSHR	2492	genome.wustl.edu	37	2	49190770	49190770	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:49190770G>A	ENST00000406846.2	-	10	1309	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	FSHR_ENST00000541117.1_Missense_Mutation_p.P133L|FSHR_ENST00000346173.3_Missense_Mutation_p.P335L|FSHR_ENST00000304421.4_Missense_Mutation_p.P371L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	397					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAGGAACCTGGGGACTGTGAG	0.458									Gonadal Dysgenesis, 46 XX																																								0													129.0	127.0	128.0					2																	49190770		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1190C>T	2.37:g.49190770G>A	ENSP00000384708:p.Pro397Leu		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.P397L	ENST00000406846.2	37	c.1190	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937352	0.73557	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89483	0.6728	M	0.74546	2.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.88716	0.3226	9	.	.	.	.	18.3052	0.90177	0.0:0.0:1.0:0.0	.	371;335;397	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	L	397;335;371;133	ENSP00000384708:P397L;ENSP00000333908:P335L;ENSP00000306780:P371L;ENSP00000444172:P133L	.	P	-	2	0	FSHR	49044274	1.000000	0.71417	0.996000	0.52242	0.764000	0.43329	9.657000	0.98554	2.801000	0.96364	0.655000	0.94253	CCC	FSHR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	ENSG00000170820		0.458	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	-	0.00	37	0	G			49190770	-1	tier1	-	no_errors	ENST00000406846	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A
FSTL5	56884	genome.wustl.edu	37	4	162463686	162463686	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:162463686T>C	ENST00000306100.5	-	9	1611	c.1175A>G	c.(1174-1176)cAa>cGa	p.Q392R	FSTL5_ENST00000511170.1_5'Flank|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q391R|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q391R|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q391R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	392	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAAAGCACCTTGAAGCGTGAG	0.348																																																	0													63.0	65.0	64.0					4																	162463686		2203	4300	6503	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1175A>G	4.37:g.162463686T>C	ENSP00000305334:p.Gln392Arg		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.Q392R	ENST00000306100.5	37	c.1175	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	T	13.80	2.343913	0.41498	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.88	4.88	0.63580	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106952	0.64402	D	0.000004	T	0.64327	0.2588	N	0.12182	0.205	0.80722	D	1	D;D;D	0.61697	0.99;0.979;0.988	D;P;D	0.64042	0.921;0.785;0.909	T	0.64512	-0.6390	10	0.28530	T	0.3	.	13.9792	0.64295	0.0:0.0:0.0:1.0	.	391;391;392	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	R	392;391;391;391	ENSP00000305334:Q392R;ENSP00000368462:Q391R;ENSP00000389270:Q391R;ENSP00000440409:Q391R	ENSP00000305334:Q392R	Q	-	2	0	FSTL5	162683136	1.000000	0.71417	0.999000	0.59377	0.459000	0.32528	4.754000	0.62191	1.961000	0.56991	0.379000	0.24179	CAA	FSTL5	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000168843		0.348	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0.00	70	0	T	NM_020116		162463686	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	20.27	59	15	SNP	1.000	C
FTCD	10841	genome.wustl.edu	37	21	47571590	47571591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:47571590_47571591insC	ENST00000291670.5	-	5	560_561	c.517_518insG	c.(517-519)gccfs	p.A173fs	FTCD_ENST00000355384.2_Frame_Shift_Ins_p.A173fs|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Frame_Shift_Ins_p.A173fs|FTCD_ENST00000397748.1_Frame_Shift_Ins_p.A173fs|FTCD_ENST00000397746.3_Frame_Shift_Ins_p.A173fs|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397743.1_Frame_Shift_Ins_p.A173fs	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	173	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CGTGGCCGTGGCCCCCCAACTG	0.639																																																	0																																										SO:0001589	frameshift_variant	0			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.518dupG	21.37:g.47571596_47571596dupC	ENSP00000291670:p.Ala173fs		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Frame_Shift_Ins	INS	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.A173fs	ENST00000291670.5	37	c.518_517	CCDS13731.1	21																																																																																			FTCD	-	pfam_Formiminotransferase_N,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat	ENSG00000160282		0.639	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206962.1		0.00	90	0	-	NM_006657		47571591	-1	tier1		no_errors	ENST00000359679	ensembl	human	known	74_37	frame_shift_ins	27.91	62	24	INS	1.000:1.000	C
FTMT	94033	genome.wustl.edu	37	5	121187725	121187725	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:121187725C>T	ENST00000321339.1	+	1	76	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	23					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.R23C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCGCCCGGTGCGCTGCTGCTT	0.731																																																	1	Substitution - Missense(1)	lung(1)											16.0	18.0	17.0					5																	121187725		2198	4292	6490	SO:0001583	missense	0			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.67C>T	5.37:g.121187725C>T	ENSP00000313691:p.Arg23Cys			Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.R23C	ENST00000321339.1	37	c.67	CCDS4128.1	5	.	.	.	.	.	.	.	.	.	.	C	8.592	0.884920	0.17540	.	.	ENSG00000181867	ENST00000321339	T	0.63580	-0.05	2.95	0.0714	0.14382	.	.	.	.	.	T	0.41994	0.1183	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27606	-1.0069	9	0.46703	T	0.11	.	2.3777	0.04346	0.2393:0.4726:0.0:0.288	.	23	Q8N4E7	FTMT_HUMAN	C	23	ENSP00000313691:R23C	ENSP00000313691:R23C	R	+	1	0	FTMT	121215624	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.252000	0.08806	-0.015000	0.14150	-0.760000	0.03462	CGC	FTMT	-	NULL	ENSG00000181867		0.731	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	HGNC	protein_coding	OTTHUMT00000250884.1		0.00	44	0	C	NM_177478		121187725	+1			no_errors	ENST00000321339	ensembl	human	known	74_37	missense	13.89	30	5	SNP	0.000	T
FUNDC1	139341	genome.wustl.edu	37	X	44401202	44401202	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:44401202G>A	ENST00000378045.4	-	2	342	c.174C>T	c.(172-174)ggC>ggT	p.G58G	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	58					mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGCCAGTAACGCCACCCATTA	0.473																																																	0													67.0	57.0	60.0					X																	44401202		2203	4300	6503	SO:0001819	synonymous_variant	0			BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.174C>T	X.37:g.44401202G>A				Silent	SNP	pfam_FUN14	p.G58	ENST00000378045.4	37	c.174	CCDS14263.1	X																																																																																			FUNDC1	-	pfam_FUN14	ENSG00000069509		0.473	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUNDC1	HGNC	protein_coding	OTTHUMT00000056320.1	-	0.00	65	0	G	NM_173794		44401202	-1	tier1	-	no_errors	ENST00000378045	ensembl	human	known	74_37	silent	16.67	30	6	SNP	0.589	A
FYB	2533	genome.wustl.edu	37	5	39153687	39153687	+	Silent	SNP	C	C	T	rs375737931		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:39153687C>T	ENST00000351578.6	-	3	1345	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	FYB_ENST00000540520.1_Silent_p.T395T|FYB_ENST00000505428.1_Silent_p.T385T|FYB_ENST00000512982.1_Silent_p.T385T|FYB_ENST00000515010.1_Silent_p.T385T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	385	Interaction with SKAP1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTGAGTAAGACGTCTGGCCTT	0.468																																																	0								C	,	0,4112		0,0,2056	205.0	215.0	211.0		1155,1155	-9.3	0.0	5		211	2,8388		0,2,4193	no	coding-synonymous,coding-synonymous	FYB	NM_001465.4,NM_199335.3	,	0,2,6249	TT,TC,CC		0.0238,0.0,0.016	,	385/830,385/784	39153687	2,12500	2056	4195	6251	SO:0001819	synonymous_variant	0			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1155G>A	5.37:g.39153687C>T			A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.T395	ENST00000351578.6	37	c.1185	CCDS47200.1	5																																																																																			FYB	-	NULL	ENSG00000082074		0.468	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	HGNC	protein_coding	OTTHUMT00000367098.1	-	0.00	112	0	C	NM_001465		39153687	-1	tier1	-	no_errors	ENST00000540520	ensembl	human	known	74_37	silent	14.85	86	15	SNP	0.000	T
FZD2	2535	genome.wustl.edu	37	17	42635889	42635889	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:42635889G>A	ENST00000315323.3	+	1	965	c.833G>A	c.(832-834)cGg>cAg	p.R278Q		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	278					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TACCCAGAGCGGCCTATCATT	0.607																																																	0													62.0	62.0	62.0					17																	42635889		2203	4300	6503	SO:0001583	missense	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.833G>A	17.37:g.42635889G>A	ENSP00000323901:p.Arg278Gln		Q0VG82	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R278Q	ENST00000315323.3	37	c.833	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	22.4	4.280482	0.80692	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.84370	-1.84	4.61	3.64	0.41730	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.93795	0.8016	H	0.94503	3.545	0.53688	D	0.999971	D	0.89917	1.0	D	0.87578	0.998	D	0.94319	0.7552	10	0.87932	D	0	.	11.9527	0.52964	0.0858:0.0:0.9141:0.0	.	278	Q14332	FZD2_HUMAN	Q	354;278	ENSP00000323901:R278Q	ENSP00000323901:R278Q	R	+	2	0	FZD2	39991415	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.856000	0.99531	0.908000	0.36671	0.561000	0.74099	CGG	FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000180340		0.607	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1		0.00	36	0	G	NM_001466		42635889	+1			no_errors	ENST00000315323	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	A
FZD3	7976	genome.wustl.edu	37	8	28420373	28420373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:28420373C>T	ENST00000240093.3	+	8	2324	c.1846C>T	c.(1846-1848)Cga>Tga	p.R616*	FZD3_ENST00000537916.1_Nonsense_Mutation_p.R616*	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	616					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CAGCATGTCACGACTAACAGA	0.453																																																	0													114.0	88.0	97.0					8																	28420373		2203	4300	6503	SO:0001587	stop_gained	0			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1846C>T	8.37:g.28420373C>T	ENSP00000240093:p.Arg616*		A8K615	Nonsense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R616*	ENST00000240093.3	37	c.1846	CCDS6069.1	8	.	.	.	.	.	.	.	.	.	.	C	43	10.401371	0.99398	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	.	.	.	5.35	5.35	0.76521	.	0.492668	0.20662	N	0.088018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4037	0.90526	0.0:1.0:0.0:0.0	.	.	.	.	X	616	.	ENSP00000240093:R616X	R	+	1	2	FZD3	28476292	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	5.411000	0.66386	2.667000	0.90743	0.591000	0.81541	CGA	FZD3	-	NULL	ENSG00000104290		0.453	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD3	HGNC	protein_coding	OTTHUMT00000219986.2	-	0.00	41	0	C	NM_145866		28420373	+1	tier1	-	no_errors	ENST00000240093	ensembl	human	known	74_37	nonsense	28.81	42	17	SNP	1.000	T
GAA	2548	genome.wustl.edu	37	17	78086479	78086479	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:78086479C>A	ENST00000302262.3	+	13	2076	c.1857C>A	c.(1855-1857)agC>agA	p.S619R	GAA_ENST00000390015.3_Missense_Mutation_p.S619R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	619			S -> R (in GSD2; loss of function of the mutant enzyme). {ECO:0000269|PubMed:14643388}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	ACGTGTGGAGCTCCTGGGAGC	0.687																																																	0			GRCh37	CM034955	GAA	M							16.0	16.0	16.0					17																	78086479		2197	4294	6491	SO:0001583	missense	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1857C>A	17.37:g.78086479C>A	ENSP00000305692:p.Ser619Arg		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.S619R	ENST00000302262.3	37	c.1857	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218398	0.58560	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.93019	-3.15;-3.15	4.8	3.82	0.43975	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	M	0.93241	3.395	0.37453	D	0.914882	D	0.89917	1.0	D	0.91635	0.999	D	0.98147	1.0439	10	0.87932	D	0	-42.521	9.779	0.40637	0.0:0.8312:0.0:0.1688	.	619	P10253	LYAG_HUMAN	R	619	ENSP00000305692:S619R;ENSP00000374665:S619R	ENSP00000305692:S619R	S	+	3	2	GAA	75701074	0.989000	0.36119	0.996000	0.52242	0.314000	0.28054	1.979000	0.40608	2.187000	0.69744	0.561000	0.74099	AGC	GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000171298		0.687	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	-	0.00	117	0	C			78086479	+1	tier1	-	no_errors	ENST00000302262	ensembl	human	known	74_37	missense	19.74	61	15	SNP	0.999	A
GAB4	128954	genome.wustl.edu	37	22	17488851	17488852	+	Frame_Shift_Ins	INS	-	-	G	rs368592506	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:17488851_17488852insG	ENST00000400588.1	-	1	260_261	c.153_154insC	c.(151-156)cccgagfs	p.E52fs	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	52	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGCTTCTTCTCGGGGGGCGACT	0.688																																																	0																																										SO:0001589	frameshift_variant	0			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.154dupC	22.37:g.17488857_17488857dupG	ENSP00000383431:p.Glu52fs			Frame_Shift_Ins	INS	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E51fs	ENST00000400588.1	37	c.154_153	CCDS42976.1	22																																																																																			GAB4	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000215568		0.688	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1		0.00	48	0	-	XM_372882		17488852	-1	tier1		no_errors	ENST00000400588	ensembl	human	known	74_37	frame_shift_ins	15.91	37	7	INS	0.063:0.067	G
GABRA2	2555	genome.wustl.edu	37	4	46314639	46314639	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:46314639A>G	ENST00000510861.1	-	5	523	c.350T>C	c.(349-351)aTg>aCg	p.M117T	GABRA2_ENST00000540012.1_Missense_Mutation_p.M62T|GABRA2_ENST00000356504.1_Missense_Mutation_p.M117T|GABRA2_ENST00000515082.1_Missense_Mutation_p.M117T|GABRA2_ENST00000381620.4_Missense_Mutation_p.M117T|GABRA2_ENST00000514090.1_Missense_Mutation_p.M117T|GABRA2_ENST00000507069.1_Missense_Mutation_p.M117T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	117					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTGCTAGCCATTAAATTGTT	0.318																																																	0													67.0	71.0	70.0					4																	46314639		2203	4300	6503	SO:0001583	missense	0				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.350T>C	4.37:g.46314639A>G	ENSP00000421828:p.Met117Thr		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.M62T	ENST00000510861.1	37	c.185	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022427	0.75275	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85885	0.5801	M	0.81802	2.56	0.80722	D	1	P;P;P	0.51240	0.943;0.823;0.757	P;B;P	0.54759	0.76;0.431;0.497	D	0.87853	0.2659	10	0.87932	D	0	.	15.5881	0.76502	1.0:0.0:0.0:0.0	.	62;117;117	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	T	117;117;117;117;62;117;117;117;117	ENSP00000421828:M117T;ENSP00000421300:M117T;ENSP00000371033:M117T;ENSP00000348897:M117T;ENSP00000444409:M62T;ENSP00000427603:M117T;ENSP00000423840:M117T;ENSP00000424362:M117T;ENSP00000424093:M117T	ENSP00000348897:M117T	M	-	2	0	GABRA2	46009396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.272000	0.75746	0.460000	0.39030	ATG	GABRA2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000151834		0.318	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	-	0.00	67	0	A			46314639	-1	tier1	-	no_errors	ENST00000540012	ensembl	human	known	74_37	missense	33.75	53	27	SNP	1.000	G
GABRA4	2557	genome.wustl.edu	37	4	46967130	46967130	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:46967130A>G	ENST00000264318.3	-	8	1973	c.991T>C	c.(991-993)Ttt>Ctt	p.F331L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	331					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGGGCCGAAAATACAAAAGCA	0.463																																					Ovarian(6;283 369 8234 12290 33402)												0													142.0	126.0	131.0					4																	46967130		2203	4300	6503	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.991T>C	4.37:g.46967130A>G	ENSP00000264318:p.Phe331Leu		Q8IYR7	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.F331L	ENST00000264318.3	37	c.991	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	A	33	5.205541	0.95033	.	.	ENSG00000109158	ENST00000264318	D	0.87029	-2.2	4.81	4.81	0.61882	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92977	0.7765	M	0.81802	2.56	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.93896	0.7184	10	0.87932	D	0	.	13.6942	0.62567	1.0:0.0:0.0:0.0	.	331	P48169	GBRA4_HUMAN	L	331	ENSP00000264318:F331L	ENSP00000264318:F331L	F	-	1	0	GABRA4	46661887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.008000	0.58898	0.482000	0.46254	TTT	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000109158		0.463	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	-	0.00	62	0	A			46967130	-1	tier1	-	no_errors	ENST00000264318	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	G
GABRA5	2558	genome.wustl.edu	37	15	27128522	27128522	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:27128522A>C	ENST00000335625.5	+	6	1203	c.315A>C	c.(313-315)aaA>aaC	p.K105N	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.K105N|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.K105N	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	105					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AAAGCTGGAAAGATGAAAGGC	0.592																																																	0													108.0	117.0	114.0					15																	27128522		2083	4238	6321	SO:0001583	missense	0				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.315A>C	15.37:g.27128522A>C	ENSP00000335592:p.Lys105Asn		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.K105N	ENST00000335625.5	37	c.315	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855355	0.32791	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.4	-4.61	0.03380	Neurotransmitter-gated ion-channel ligand-binding (3);	0.041315	0.85682	D	0.000000	T	0.60064	0.2240	N	0.25426	0.745	0.58432	D	0.999993	B	0.23540	0.087	B	0.30716	0.119	T	0.29941	-0.9995	10	0.19590	T	0.45	.	11.0289	0.47761	0.2978:0.0:0.5903:0.1119	.	105	P31644	GBRA5_HUMAN	N	105;105;73;105;105;105;73	ENSP00000335592:K105N;ENSP00000347557:K105N;ENSP00000450653:K73N;ENSP00000382953:K105N;ENSP00000450806:K105N;ENSP00000450717:K105N;ENSP00000450529:K73N	ENSP00000335592:K105N	K	+	3	2	GABRA5	24679615	0.175000	0.23083	0.687000	0.30102	0.762000	0.43233	-0.271000	0.08572	-0.833000	0.04245	-0.441000	0.05720	AAA	GABRA5	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000186297		0.592	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1	-	0.00	75	0	A			27128522	+1	tier1	-	no_errors	ENST00000335625	ensembl	human	known	74_37	missense	27.27	48	18	SNP	0.904	C
GAL3ST2	64090	genome.wustl.edu	37	2	242743356	242743356	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:242743356C>T	ENST00000192314.6	+	4	1103	c.972C>T	c.(970-972)gaC>gaT	p.D324D	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	324					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCCTGCAGGACGGCGGCGCGC	0.756																																																	0													5.0	6.0	5.0					2																	242743356		2094	4113	6207	SO:0001819	synonymous_variant	0			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.972C>T	2.37:g.242743356C>T			Q17RK0|Q57Z52	Silent	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.D324	ENST00000192314.6	37	c.972	CCDS33427.1	2																																																																																			GAL3ST2	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000154252		0.756	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST2	HGNC	protein_coding	OTTHUMT00000322792.1	-	0.00	23	0	C	NM_022134		242743356	+1	tier1	-	no_errors	ENST00000192314	ensembl	human	known	74_37	silent	30.00	7	3	SNP	0.000	T
GALNT10	55568	genome.wustl.edu	37	5	153796475	153796475	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:153796475G>A	ENST00000297107.6	+	12	1892	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q	GALNT10_ENST00000377661.2_Silent_p.Q523Q|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Silent_p.Q258Q|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	585	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTCTCACCCAGCAGTGGCTGT	0.532																																																	0													150.0	138.0	142.0					5																	153796475		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1755G>A	5.37:g.153796475G>A			B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q585	ENST00000297107.6	37	c.1755	CCDS4325.1	5																																																																																			GALNT10	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000164574		0.532	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	-	0.00	78	0	G	NM_198321		153796475	+1	tier1	-	no_errors	ENST00000297107	ensembl	human	known	74_37	silent	6.76	68	5	SNP	1.000	A
GALNT13	114805	genome.wustl.edu	37	2	155303149	155303149	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:155303149C>T	ENST00000392825.3	+	13	2097				AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_Missense_Mutation_p.H524Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGGCTCCCAGCATCCTACTGT	0.363																																																	0																																										SO:0001627	intron_variant	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1531-3774C>T	2.37:g.155303149C>T			Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.H524Y	ENST00000392825.3	37	c.1570	CCDS2199.1	2	.	.	.	.	.	.	.	.	.	.	C	0.559	-0.845886	0.02671	.	.	ENSG00000144278	ENST00000409237;ENST00000453715	T;T	0.26660	1.72;1.72	5.63	1.48	0.22813	.	.	.	.	.	T	0.11110	0.0271	.	.	.	0.09310	N	0.999999	B	0.12013	0.005	B	0.20184	0.028	T	0.38265	-0.9669	8	0.06891	T	0.86	.	7.6006	0.28073	0.2728:0.363:0.3642:0.0	.	524	Q08ER7	.	Y	524;69	ENSP00000387239:H524Y;ENSP00000396612:H69Y	ENSP00000387239:H524Y	H	+	1	0	GALNT13	155011395	0.996000	0.38824	0.054000	0.19295	0.818000	0.46254	2.889000	0.48601	0.269000	0.21961	0.591000	0.81541	CAT	GALNT13	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000144278		0.363	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	-	0.00	48	0	C	NM_052917		155303149	+1	tier1	-	no_errors	ENST00000409237	ensembl	human	known	74_37	missense	36.36	28	16	SNP	0.964	T
GALNT8	26290	genome.wustl.edu	37	12	4848347	4848347	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:4848347T>C	ENST00000252318.2	+	3	865	c.528T>C	c.(526-528)taT>taC	p.Y176Y	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	176					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGAAGACATATCCTTCCCAAC	0.388																																					Colon(108;631 1558 7270 20097 39846)												0													117.0	104.0	109.0					12																	4848347		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.528T>C	12.37:g.4848347T>C			B2RU02	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Y176	ENST00000252318.2	37	c.528	CCDS8533.1	12																																																																																			GALNT8	-	NULL	ENSG00000130035		0.388	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0.00	46	0	T	NM_017417		4848347	+1	tier1	-	no_errors	ENST00000252318	ensembl	human	known	74_37	silent	21.31	48	13	SNP	0.490	C
GALNT8	26290	genome.wustl.edu	37	12	4848418	4848418	+	Missense_Mutation	SNP	C	C	G	rs576971845		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:4848418C>G	ENST00000252318.2	+	3	936	c.599C>G	c.(598-600)gCc>gGc	p.A200G	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	200	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATACAACGGGCCATCACCAGT	0.443																																					Colon(108;631 1558 7270 20097 39846)												0													144.0	127.0	133.0					12																	4848418		2203	4300	6503	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.599C>G	12.37:g.4848418C>G	ENSP00000252318:p.Ala200Gly		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A200G	ENST00000252318.2	37	c.599	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270586	0.59540	.	.	ENSG00000130035	ENST00000252318	T	0.61274	0.12	4.36	3.46	0.39613	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000001	T	0.74635	0.3742	M	0.84219	2.685	0.34397	D	0.694852	D	0.89917	1.0	D	0.79108	0.992	T	0.82729	-0.0313	10	0.72032	D	0.01	.	10.314	0.43725	0.0:0.9014:0.0:0.0986	.	200	Q9NY28	GALT8_HUMAN	G	200	ENSP00000252318:A200G	ENSP00000252318:A200G	A	+	2	0	GALNT8	4718679	0.996000	0.38824	0.710000	0.30468	0.388000	0.30384	5.147000	0.64851	1.042000	0.40150	0.561000	0.74099	GCC	GALNT8	-	pfam_Glyco_trans_2	ENSG00000130035		0.443	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0.00	61	0	C	NM_017417		4848418	+1	tier1	-	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	23.81	48	15	SNP	0.994	G
GALNTL5	168391	genome.wustl.edu	37	7	151680108	151680108	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:151680108G>A	ENST00000392800.2	+	4	660	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	GALNTL5_ENST00000431418.2_Missense_Mutation_p.A136T	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	136	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CCTCCCGACTGCCAGCATTGT	0.438																																																	0													128.0	119.0	122.0					7																	151680108		2203	4300	6503	SO:0001583	missense	0			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.406G>A	7.37:g.151680108G>A	ENSP00000376548:p.Ala136Thr		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.A136T	ENST00000392800.2	37	c.406	CCDS5929.1	7	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849913	0.71603	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58652	0.32;0.32	4.65	3.77	0.43336	.	0.000000	0.49305	D	0.000150	T	0.41511	0.1162	L	0.28274	0.84	0.40532	D	0.980943	P	0.47841	0.901	B	0.43052	0.406	T	0.24119	-1.0169	10	0.10902	T	0.67	.	10.8121	0.46553	0.0929:0.0:0.9071:0.0	.	136	Q7Z4T8	GLTL5_HUMAN	T	136	ENSP00000392582:A136T;ENSP00000376548:A136T	ENSP00000376548:A136T	A	+	1	0	GALNTL5	151311041	1.000000	0.71417	0.846000	0.33378	0.041000	0.13682	6.223000	0.72257	1.291000	0.44653	0.555000	0.69702	GCC	GALNTL5	-	NULL	ENSG00000106648		0.438	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL5	HGNC	protein_coding	OTTHUMT00000348395.1	-	0.00	49	0	G	NM_145292		151680108	+1	tier1	-	no_errors	ENST00000392800	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.944	A
GAP43	2596	genome.wustl.edu	37	3	115395200	115395200	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:115395200delC	ENST00000305124.6	+	2	737	c.371delC	c.(370-372)gccfs	p.A124fs	GAP43_ENST00000393780.3_Frame_Shift_Del_p.A160fs	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	124					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAGCAGGCAGCCCCCCAGGCT	0.607																																																	0													27.0	31.0	30.0					3																	115395200		2203	4298	6501	SO:0001589	frameshift_variant	0				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.371delC	3.37:g.115395200delC	ENSP00000305010:p.Ala124fs		A8K0Y4	Frame_Shift_Del	DEL	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin	p.Q126fs	ENST00000305124.6	37	c.371	CCDS33830.1	3																																																																																			GAP43	-	pfam_Neuromodulin_C	ENSG00000172020		0.607	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2		0.00	99	0	C	NM_002045		115395200	+1	tier1		no_errors	ENST00000305124	ensembl	human	known	74_37	frame_shift_del	6.17	76	5	DEL	1.000	-
GAPDH	2597	genome.wustl.edu	37	12	6646278	6646278	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:6646278delG	ENST00000229239.5	+	6	1005	c.339delG	c.(337-339)cagfs	p.Q113fs	GAPDH_ENST00000396859.1_Frame_Shift_Del_p.Q113fs|GAPDH_ENST00000396856.1_Frame_Shift_Del_p.Q38fs|GAPDH_ENST00000396861.1_Frame_Shift_Del_p.Q113fs|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396858.1_Frame_Shift_Del_p.Q71fs	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	113	Interaction with WARS.				carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CTCATTTGCAGGGGGGAGCCA	0.572																																																	0													40.0	43.0	42.0					12																	6646278		2203	4300	6503	SO:0001589	frameshift_variant	0			AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.339delG	12.37:g.6646278delG	ENSP00000229239:p.Gln113fs		E7EUT4|P00354|Q53X65	Frame_Shift_Del	DEL	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.G115fs	ENST00000229239.5	37	c.339	CCDS8549.1	12																																																																																			GAPDH	-	pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	ENSG00000111640		0.572	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDH	HGNC	protein_coding	OTTHUMT00000268059.1		0.00	57	0	G	NM_002046		6646278	+1	tier1		no_errors	ENST00000229239	ensembl	human	known	74_37	frame_shift_del	23.64	42	13	DEL	1.000	-
GAREM	64762	genome.wustl.edu	37	18	29867973	29867973	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:29867973G>A	ENST00000269209.6	-	4	590	c.587C>T	c.(586-588)cCg>cTg	p.P196L	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Missense_Mutation_p.P196L			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	196	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										AATGAGGCACGGCATTTTGCC	0.453																																																	0													112.0	92.0	99.0					18																	29867973		2203	4300	6503	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.587C>T	18.37:g.29867973G>A	ENSP00000269209:p.Pro196Leu		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	superfamily_SAM/pointed	p.P196L	ENST00000269209.6	37	c.587	CCDS56057.1	18	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513750	0.85389	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.19938	2.11;2.11	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51888	-0.8648	10	0.87932	D	0	-16.0239	20.1095	0.97908	0.0:0.0:1.0:0.0	.	196;196	Q9H706;Q9H706-3	FA59A_HUMAN;.	L	196	ENSP00000382165:P196L;ENSP00000269209:P196L	ENSP00000269209:P196L	P	-	2	0	FAM59A	28121971	1.000000	0.71417	0.970000	0.41538	0.970000	0.65996	9.357000	0.97099	2.831000	0.97527	0.655000	0.94253	CCG	GAREM	-	NULL	ENSG00000141441		0.453	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GAREM	HGNC	protein_coding	OTTHUMT00000255365.1	-	0.00	55	0	G	NM_022751		29867973	-1	tier1	-	no_errors	ENST00000269209	ensembl	human	known	74_37	missense	19.23	42	10	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8097653	8097653	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:8097653G>A	ENST00000346208.3	+	2	490	c.35G>A	c.(34-36)aGc>aAc	p.S12N	RP11-379F12.3_ENST00000458727.1_lincRNA|GATA3_ENST00000379328.3_Missense_Mutation_p.S12N|GATA3-AS1_ENST00000355358.1_lincRNA|RP11-379F12.4_ENST00000418270.1_lincRNA			P23771	GATA3_HUMAN	GATA binding protein 3	12					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGCTGGGTGAGCCACCACCAC	0.761			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													14.0	13.0	13.0					10																	8097653		2147	4179	6326	SO:0001583	missense	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.35G>A	10.37:g.8097653G>A	ENSP00000341619:p.Ser12Asn		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S12N	ENST00000346208.3	37	c.35	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729270	0.69074	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.96334	-3.98;-3.96	4.87	4.87	0.63330	.	0.040808	0.85682	D	0.000000	D	0.96275	0.8785	M	0.72479	2.2	0.45580	D	0.998526	P;P	0.38922	0.651;0.551	B;P	0.44673	0.081;0.457	D	0.95906	0.8919	9	.	.	.	-16.4623	16.9937	0.86361	0.0:0.0:1.0:0.0	.	12;12	P23771;P23771-2	GATA3_HUMAN;.	N	12	ENSP00000368632:S12N;ENSP00000341619:S12N	.	S	+	2	0	GATA3	8137659	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.507000	0.53371	2.232000	0.73038	0.561000	0.74099	AGC	GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.761	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	-	0.00	39	0	G	NM_001002295		8097653	+1	tier1	-	no_errors	ENST00000379328	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8097679	8097679	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:8097679G>A	ENST00000346208.3	+	2	516	c.61G>A	c.(61-63)Ggg>Agg	p.G21R	RP11-379F12.3_ENST00000458727.1_lincRNA|GATA3_ENST00000379328.3_Missense_Mutation_p.G21R|GATA3-AS1_ENST00000355358.1_lincRNA|RP11-379F12.4_ENST00000418270.1_lincRNA			P23771	GATA3_HUMAN	GATA binding protein 3	21					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGTGCTCAACGGGCAGCACCC	0.701			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													19.0	17.0	18.0					10																	8097679		2179	4254	6433	SO:0001583	missense	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.61G>A	10.37:g.8097679G>A	ENSP00000341619:p.Gly21Arg		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G21R	ENST00000346208.3	37	c.61	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.714987	0.96830	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.96427	-4.01;-3.98	4.72	4.72	0.59763	.	0.157478	0.56097	D	0.000032	D	0.96744	0.8937	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.65815	0.995;0.982	P;P	0.51582	0.593;0.674	D	0.96583	0.9432	9	.	.	.	-18.6317	16.6549	0.85225	0.0:0.0:1.0:0.0	.	21;21	P23771;P23771-2	GATA3_HUMAN;.	R	21	ENSP00000368632:G21R;ENSP00000341619:G21R	.	G	+	1	0	GATA3	8137685	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.537000	0.82033	2.154000	0.67381	0.561000	0.74099	GGG	GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.701	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	-	0.00	56	0	G	NM_001002295		8097679	+1	tier1	-	no_errors	ENST00000379328	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	A
GATM	2628	genome.wustl.edu	37	15	45668948	45668948	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:45668948delG	ENST00000396659.3	-	2	478	c.139delC	c.(139-141)cggfs	p.R47fs	GATM_ENST00000558336.1_Frame_Shift_Del_p.R47fs|GATM_ENST00000458245.5_5'Flank	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	47					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	CAGGAGTTCCGGGAGGAAGCC	0.517																																																	0													70.0	65.0	67.0					15																	45668948		2198	4298	6496	SO:0001589	frameshift_variant	0			S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.139delC	15.37:g.45668948delG	ENSP00000379895:p.Arg47fs		B4DH99|B4DPI3|Q53EQ4	Frame_Shift_Del	DEL	NULL	p.R47fs	ENST00000396659.3	37	c.139	CCDS10122.1	15																																																																																			GATM	-	NULL	ENSG00000171766		0.517	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATM	HGNC	protein_coding	OTTHUMT00000254220.2		0.00	43	0	G	NM_001482		45668948	-1	tier1		no_errors	ENST00000396659	ensembl	human	known	74_37	frame_shift_del	18.92	30	7	DEL	0.616	-
STAG3	10734	genome.wustl.edu	37	7	99809346	99809346	+	Intron	SNP	C	C	A	rs530836331		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:99809346C>A	ENST00000426455.1	+	32	3922				STAG3_ENST00000317296.5_Intron|STAG3_ENST00000440830.1_Intron|STAG3_ENST00000394018.2_Intron|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3						chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCCCACCCCGGGTGTCTGA	0.507																																																	0																																										SO:0001627	intron_variant	0			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3516-72C>A	7.37:g.99809346C>A			A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	RNA	SNP	-	NULL	ENST00000426455.1	37	NULL	CCDS34703.1	7																																																																																			GATS	-	-	ENSG00000239521		0.507	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GATS	Clone_based_vega_gene	protein_coding	OTTHUMT00000338734.2	-	0.00	28	0	C	NM_012447		99809346	-1	tier1	-	no_errors	ENST00000328453	ensembl	human	known	74_37	rna	24.14	22	7	SNP	0.000	A
GBP7	388646	genome.wustl.edu	37	1	89630424	89630424	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:89630424T>A	ENST00000294671.2	-	3	446	c.308A>T	c.(307-309)gAt>gTt	p.D103V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	103	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTTTTCCATATCACCCAGGCC	0.443																																																	0													96.0	90.0	92.0					1																	89630424		2203	4300	6503	SO:0001583	missense	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.308A>T	1.37:g.89630424T>A	ENSP00000294671:p.Asp103Val			Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.D103V	ENST00000294671.2	37	c.308	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.545565	0.45280	.	.	ENSG00000213512	ENST00000294671	D	0.85339	-1.97	3.62	2.45	0.29901	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	H	0.97240	3.965	0.50171	D	0.999853	D	0.69078	0.997	D	0.66979	0.948	D	0.91270	0.5043	10	0.87932	D	0	.	7.5385	0.27725	0.192:0.0:0.0:0.808	.	103	Q8N8V2	GBP7_HUMAN	V	103	ENSP00000294671:D103V	ENSP00000294671:D103V	D	-	2	0	GBP7	89403012	0.998000	0.40836	0.256000	0.24389	0.703000	0.40648	5.844000	0.69430	0.542000	0.28846	0.379000	0.24179	GAT	GBP7	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase	ENSG00000213512		0.443	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	-	0.00	71	0	T	NM_207398		89630424	-1	tier1	-	no_errors	ENST00000294671	ensembl	human	known	74_37	missense	12.66	69	10	SNP	0.280	A
GCC1	79571	genome.wustl.edu	37	7	127223205	127223205	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:127223205G>A	ENST00000321407.2	-	2	1615	c.1191C>T	c.(1189-1191)cgC>cgT	p.R397R	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	397					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTGCAGAATGCGCTCCTTCA	0.552																																																	0													85.0	82.0	83.0					7																	127223205		2203	4300	6503	SO:0001819	synonymous_variant	0			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1191C>T	7.37:g.127223205G>A			Q9H6N7	Silent	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.R397	ENST00000321407.2	37	c.1191	CCDS5796.1	7																																																																																			GCC1	-	NULL	ENSG00000179562		0.552	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3		0.00	28	0	G	NM_024523		127223205	-1			no_errors	ENST00000321407	ensembl	human	known	74_37	silent	18.75	13	3	SNP	0.880	A
GCH1	2643	genome.wustl.edu	37	14	55310393	55310393	+	3'UTR	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:55310393C>A	ENST00000491895.2	-	0	1283				GCH1_ENST00000395514.1_Intron|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000543643.2_Intron|GCH1_ENST00000254299.4_5'UTR	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1						7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(2)|lung(7)|skin(2)	11						CCCAATGCTCCTATGCTTATG	0.418																																					Pancreas(198;1245 2204 4807 21567 38372)												0																																										SO:0001624	3_prime_UTR_variant	0			U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"""dopa-responsive dystonia"""	600225	"""dystonia 14"""	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.*342G>T	14.37:g.55310393C>A			Q6FHY7|Q9Y4I8	RNA	SNP	-	NULL	ENST00000491895.2	37	NULL	CCDS9720.1	14																																																																																			GCH1	-	-	ENSG00000131979		0.418	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	GCH1	HGNC	protein_coding	OTTHUMT00000276895.3	-	0.00	30	0	C			55310393	-1	tier1	-	no_errors	ENST00000254299	ensembl	human	known	74_37	rna	48.48	17	16	SNP	0.003	A
GCN1L1	10985	genome.wustl.edu	37	12	120580391	120580391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:120580391delG	ENST00000300648.6	-	44	5761	c.5749delC	c.(5749-5751)cgcfs	p.R1917fs		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1917					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCAAGGTGCGGGGGGTATTG	0.602																																																	0													56.0	65.0	62.0					12																	120580391		1968	4156	6124	SO:0001589	frameshift_variant	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5749delC	12.37:g.120580391delG	ENSP00000300648:p.Arg1917fs		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Frame_Shift_Del	DEL	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R1917fs	ENST00000300648.6	37	c.5749	CCDS41847.1	12																																																																																			GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1		0.00	104	0	G			120580391	-1	tier1		no_errors	ENST00000300648	ensembl	human	known	74_37	frame_shift_del	29.67	64	27	DEL	1.000	-
GCNT2	2651	genome.wustl.edu	37	6	10557097	10557097	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:10557097C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Silent_p.N147N|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCTTCCCAAACGCTTTTCTGG	0.453																																																	0													86.0	86.0	86.0					6																	10557097		2203	4300	6503	SO:0001627	intron_variant	0			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27028C>T	6.37:g.10557097C>T				Silent	SNP	pfam_Glyco_trans_14	p.N147	ENST00000379597.3	37	c.441	CCDS34338.1	6																																																																																			GCNT2	-	pfam_Glyco_trans_14	ENSG00000111846		0.453	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	-	0.00	27	0	C	NM_145649		10557097	+1	tier1	-	no_errors	ENST00000316170	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.576	T
NDUFS1	4719	genome.wustl.edu	37	2	206980715	206980715	+	3'UTR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:206980715delT	ENST00000233190.6	-	0	10644				AC007383.4_ENST00000453039.1_RNA	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTAACAGTAGTTTTTTTTTCC	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.*8194A>-	2.37:g.206980715delT			B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	RNA	DEL	-	NULL	ENST00000233190.6	37	NULL	CCDS2366.1	2																																																																																			AC007383.4	-	-	ENSG00000231955		0.323	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCSHP3	Clone_based_vega_gene	protein_coding	OTTHUMT00000256391.4		0.00	44	0	T	NM_005006		206980715	+1	tier1		no_errors	ENST00000453039	ensembl	human	known	74_37	rna	22.22	28	8	DEL	0.033	-
GDAP1L1	78997	genome.wustl.edu	37	20	42907925	42907926	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:42907925_42907926insA	ENST00000342560.5	+	6	1177_1178	c.1089_1090insA	c.(1090-1092)aaafs	p.K364fs	GDAP1L1_ENST00000537864.1_Frame_Shift_Ins_p.K172fs	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	364										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTACCTCAAGAAAAAATACAT	0.559																																																	0																																										SO:0001589	frameshift_variant	0				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.1095dupA	20.37:g.42907931_42907931dupA	ENSP00000341782:p.Lys364fs		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Frame_Shift_Ins	INS	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.Y365fs	ENST00000342560.5	37	c.1089_1090	CCDS13328.1	20																																																																																			GDAP1L1	-	NULL	ENSG00000124194		0.559	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1L1	HGNC	protein_coding	OTTHUMT00000079356.1		0.00	34	0	-	NM_024034		42907926	+1	tier1		no_errors	ENST00000342560	ensembl	human	known	74_37	frame_shift_ins	29.03	22	9	INS	1.000:1.000	A
GDI2	2665	genome.wustl.edu	37	10	5853844	5853844	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:5853844delA	ENST00000380191.4	-	1	336				GDI2_ENST00000380132.4_Frame_Shift_Del_p.L17fs|RP11-318E3.9_ENST00000608273.1_lincRNA|GDI2_ENST00000380181.3_Intron	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2						protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AACCTTTCCTAAAAAATTAGC	0.279																																																	0																																										SO:0001627	intron_variant	0			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.45+1332T>-	10.37:g.5853844delA			O43928|Q5SX88|Q9UQM6	Frame_Shift_Del	DEL	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.L17fs	ENST00000380191.4	37	c.50	CCDS7071.1	10																																																																																			GDI2	-	prints_GDP_dissociation_inhibitor	ENSG00000057608		0.279	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI2	HGNC	protein_coding	OTTHUMT00000046580.1		0.00	25	0	A	NM_001494		5853844	-1	tier1		no_errors	ENST00000380132	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	0.024	-
GGA1	26088	genome.wustl.edu	37	22	38019411	38019411	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:38019411G>A	ENST00000343632.4	+	8	1073	c.687G>A	c.(685-687)acG>acA	p.T229T	GGA1_ENST00000381756.5_Silent_p.T246T|GGA1_ENST00000325180.8_Silent_p.T229T|GGA1_ENST00000406772.1_Silent_p.T156T|GGA1_ENST00000337437.4_Silent_p.T196T	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	229	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.|Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AACTGCTCACGGAGATGGTGA	0.607											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													173.0	145.0	155.0					22																	38019411		2203	4300	6503	SO:0001819	synonymous_variant	0			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.687G>A	22.37:g.38019411G>A		875	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Silent	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.T229	ENST00000343632.4	37	c.687	CCDS13951.1	22																																																																																			GGA1	-	pfam_GAT,pfscan_GAT	ENSG00000100083		0.607	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	-	0.00	38	0	G	NM_013365		38019411	+1	tier1	-	no_errors	ENST00000343632	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.001	A
GH2	2689	genome.wustl.edu	37	17	61958422	61958422	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:61958422T>C	ENST00000423893.2	-	3	319	c.258A>G	c.(256-258)acA>acG	p.T86T	GH2_ENST00000332800.7_Silent_p.T86T|GH2_ENST00000456543.2_Silent_p.T86T|GH2_ENST00000449787.2_Silent_p.T71T			P01242	SOM2_HUMAN	growth hormone 2	86					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGTTGGAAGGTGTTGGAATAG	0.547																																																	0													176.0	185.0	182.0					17																	61958422		2203	4300	6503	SO:0001819	synonymous_variant	0			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.258A>G	17.37:g.61958422T>C			B1A4H5|B1A4H7|O14643|O14644|P09587	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.T86	ENST00000423893.2	37	c.258	CCDS11647.1	17																																																																																			GH2	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	ENSG00000136487		0.547	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH2	HGNC	protein_coding	OTTHUMT00000417665.1	-	0.00	60	0	T	NM_002059		61958422	-1	tier1	-	no_errors	ENST00000332800	ensembl	human	known	74_37	silent	8.57	63	6	SNP	0.181	C
GIMAP1	170575	genome.wustl.edu	37	7	150417407	150417407	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:150417407C>T	ENST00000307194.5	+	3	455	c.315C>T	c.(313-315)taC>taT	p.Y105Y		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	105	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCACTGCTACCTGCTCTCGG	0.632																																																	0													50.0	45.0	47.0					7																	150417407		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.315C>T	7.37:g.150417407C>T			B2RCI3|Q8NAZ0	Silent	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.Y105	ENST00000307194.5	37	c.315	CCDS5906.1	7																																																																																			GIMAP1	-	pfam_AIG1,superfamily_P-loop_NTPase	ENSG00000213203		0.632	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP1	HGNC	protein_coding	OTTHUMT00000348951.2		0.00	52	0	C	NM_130759		150417407	+1			no_errors	ENST00000307194	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.119	T
GIPC1	10755	genome.wustl.edu	37	19	14591506	14591506	+	Missense_Mutation	SNP	C	C	T	rs370004452		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14591506C>T	ENST00000393033.4	-	5	642	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	GIPC1_ENST00000586027.1_Missense_Mutation_p.A125T|GIPC1_ENST00000393029.3_Missense_Mutation_p.A28T|GIPC1_ENST00000345425.2_Missense_Mutation_p.A125T|GIPC1_ENST00000393028.1_Missense_Mutation_p.A28T|GIPC1_ENST00000591349.1_Missense_Mutation_p.A28T	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	125					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TTCACGTGGGCGAAGATGAAG	0.607											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)												0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	140.0	117.0	125.0		373,82,373,82,373,82	4.4	1.0	19		125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	GIPC1	NM_005716.2,NM_202467.1,NM_202468.1,NM_202469.1,NM_202470.1,NM_202494.1	58,58,58,58,58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	125/334,28/237,125/334,28/237,125/334,28/237	14591506	2,13004	2203	4300	6503	SO:0001583	missense	0			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.373G>A	19.37:g.14591506C>T	ENSP00000376753:p.Ala125Thr	696	A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.A125T	ENST00000393033.4	37	c.373	CCDS12310.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.237090	0.95240	2.27E-4	1.16E-4	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.36	4.36	0.52297	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.89095	3.005	0.80722	D	1	D	0.62365	0.991	P	0.50049	0.629	T	0.71244	-0.4650	10	0.72032	D	0.01	-5.534	14.7278	0.69357	0.0:1.0:0.0:0.0	.	125	O14908	GIPC1_HUMAN	T	125;125;28;28;125	ENSP00000376753:A125T;ENSP00000340698:A125T;ENSP00000376749:A28T;ENSP00000376748:A28T	ENSP00000340698:A125T	A	-	1	0	GIPC1	14452506	1.000000	0.71417	0.990000	0.47175	0.928000	0.56348	7.195000	0.77798	2.161000	0.67846	0.561000	0.74099	GCC	GIPC1	-	superfamily_PDZ,pirsf_UCP038083_PDZ	ENSG00000123159		0.607	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	HGNC	protein_coding	OTTHUMT00000460239.2	-	0.00	53	0	C			14591506	-1	tier1	-	no_errors	ENST00000345425	ensembl	human	known	74_37	missense	20.00	44	11	SNP	1.000	T
GIPC1	10755	genome.wustl.edu	37	19	14593518	14593518	+	Missense_Mutation	SNP	G	G	A	rs146515353	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14593518G>A	ENST00000393033.4	-	4	540	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	GIPC1_ENST00000586027.1_Missense_Mutation_p.R91C|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000345425.2_Missense_Mutation_p.R91C|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000591349.1_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	91					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GTTGGCAGGCGGAAGGCCTCG	0.647																																					Pancreas(33;78 923 2910 41023 52850)												0								G	CYS/ARG,,CYS/ARG,,CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	45.0	36.0	39.0		271,,271,,271,	4.7	1.0	19	dbSNP_134	39	3,8597	3.0+/-9.4	0,3,4297	yes	missense,intron,missense,intron,missense,intron	GIPC1	NM_005716.2,NM_202467.1,NM_202468.1,NM_202469.1,NM_202470.1,NM_202494.1	180,,180,,180,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,,benign,,benign,	91/334,,91/334,,91/334,	14593518	4,13002	2203	4300	6503	SO:0001583	missense	0			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.271C>T	19.37:g.14593518G>A	ENSP00000376753:p.Arg91Cys		A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.R91C	ENST00000393033.4	37	c.271	CCDS12310.1	19	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385552	0.42308	2.27E-4	3.49E-4	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000351277	D;D	0.81579	-1.51;-1.51	4.65	4.65	0.58169	.	0.339438	0.28996	N	0.013461	T	0.70911	0.3278	L	0.44542	1.39	0.80722	D	1	B	0.31290	0.318	B	0.20577	0.03	T	0.73084	-0.4094	10	0.66056	D	0.02	-17.2107	10.6018	0.45371	0.0:0.0:0.8074:0.1926	.	91	O14908	GIPC1_HUMAN	C	91	ENSP00000376753:R91C;ENSP00000340698:R91C	ENSP00000340698:R91C	R	-	1	0	GIPC1	14454518	0.794000	0.28838	1.000000	0.80357	0.996000	0.88848	1.131000	0.31406	2.300000	0.77407	0.561000	0.74099	CGC	GIPC1	-	pirsf_UCP038083_PDZ	ENSG00000123159		0.647	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	HGNC	protein_coding	OTTHUMT00000460239.2		0.00	27	0	G			14593518	-1			no_errors	ENST00000345425	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	A
GJB6	10804	genome.wustl.edu	37	13	20797451	20797451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:20797451G>A	ENST00000356192.6	-	5	789	c.169C>T	c.(169-171)Caa>Taa	p.Q57*	GJB6_ENST00000400065.3_Nonsense_Mutation_p.Q57*|GJB6_ENST00000400066.3_Nonsense_Mutation_p.Q57*|GJB6_ENST00000241124.6_Nonsense_Mutation_p.Q57*	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	57					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CATCCCGGTTGCAGTGTGTTG	0.557																																																	0													113.0	89.0	97.0					13																	20797451		2203	4300	6503	SO:0001587	stop_gained	0			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.169C>T	13.37:g.20797451G>A	ENSP00000348521:p.Gln57*		B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Nonsense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.Q57*	ENST00000356192.6	37	c.169	CCDS9291.1	13	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904459	0.92035	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1613	0.93533	0.0:0.0:1.0:0.0	.	.	.	.	X	57	.	ENSP00000241124:Q57X	Q	-	1	0	GJB6	19695451	1.000000	0.71417	0.955000	0.39395	0.063000	0.16089	9.807000	0.99171	2.507000	0.84556	0.655000	0.94253	CAA	GJB6	-	pfam_Connexin_N,smart_Connexin_N,prints_Connexin	ENSG00000121742		0.557	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB6	HGNC	protein_coding	OTTHUMT00000272906.1	-	0.00	41	0	G			20797451	-1	tier1	-	no_errors	ENST00000241124	ensembl	human	known	74_37	nonsense	10.64	42	5	SNP	1.000	A
GK5	256356	genome.wustl.edu	37	3	141923492	141923492	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:141923492delA	ENST00000392993.2	-	4	563				GK5_ENST00000544571.1_Intron|GK5_ENST00000466685.3_Intron	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)						glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						ACATTTACAGAAAAAAAAAAC	0.303																																																	0													52.0	56.0	55.0					3																	141923492		2200	4293	6493	SO:0001627	intron_variant	0			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.411+44T>-	3.37:g.141923492delA			B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Frame_Shift_Del	DEL	pfam_Carb_kinase_FGGY_N	p.L153fs	ENST00000392993.2	37	c.456	CCDS33871.1	3																																																																																			GK5	-	NULL	ENSG00000175066		0.303	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1		0.00	47	0	A	NM_001039547		141923492	-1	tier1		no_errors	ENST00000487672	ensembl	human	known	74_37	frame_shift_del	22.95	47	14	DEL	0.000	-
GLCE	26035	genome.wustl.edu	37	15	69548596	69548596	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:69548596C>T	ENST00000261858.2	+	3	679	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	GLCE_ENST00000559420.2_Missense_Mutation_p.R87W	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	151					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TGGCTATGATCGGTTTGAATT	0.423																																																	0													263.0	257.0	259.0					15																	69548596		2200	4298	6498	SO:0001583	missense	0			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.451C>T	15.37:g.69548596C>T	ENSP00000261858:p.Arg151Trp		Q6GUQ2	Missense_Mutation	SNP	pfam_C5-epim	p.R151W	ENST00000261858.2	37	c.451	CCDS32277.1	15	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715438	0.68844	.	.	ENSG00000138604	ENST00000261858	T	0.35236	1.32	5.3	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65401	-0.6177	10	0.87932	D	0	-10.9248	12.923	0.58243	0.2936:0.7064:0.0:0.0	.	151	O94923	GLCE_HUMAN	W	151	ENSP00000261858:R151W	ENSP00000261858:R151W	R	+	1	2	GLCE	67335650	0.474000	0.25886	0.939000	0.37840	0.964000	0.63967	1.154000	0.31688	1.333000	0.45449	0.655000	0.94253	CGG	GLCE	-	NULL	ENSG00000138604		0.423	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding		-	0.00	65	0	C	NM_015554		69548596	+1	tier1	-	no_errors	ENST00000261858	ensembl	human	known	74_37	missense	29.51	43	18	SNP	0.975	T
GLI2	2736	genome.wustl.edu	37	2	121746728	121746728	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:121746728G>C	ENST00000452319.1	+	14	3298	c.3238G>C	c.(3238-3240)Gag>Cag	p.E1080Q	GLI2_ENST00000314490.11_Missense_Mutation_p.E752Q|GLI2_ENST00000361492.4_Missense_Mutation_p.E1080Q					GLI family zinc finger 2									p.E1080*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCTCTGGACGAGGGCACCGG	0.692																																																	1	Substitution - Nonsense(1)	lung(1)											54.0	60.0	58.0					2																	121746728		2203	4300	6503	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3238G>C	2.37:g.121746728G>C	ENSP00000390436:p.Glu1080Gln			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1080Q	ENST00000452319.1	37	c.3238	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.996457	0.00435	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.14266	2.52;2.52;2.66	4.78	4.78	0.61160	.	1.011210	0.07902	N	0.972873	T	0.09774	0.0240	N	0.05306	-0.075	0.09310	N	1	P;P;B;P	0.47677	0.838;0.899;0.035;0.524	B;B;B;B	0.43331	0.237;0.416;0.021;0.302	T	0.22661	-1.0210	10	0.08381	T	0.77	.	18.0573	0.89367	0.0:0.0:1.0:0.0	.	1080;735;735;752	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	Q	1080;1080;752	ENSP00000390436:E1080Q;ENSP00000354586:E1080Q;ENSP00000312694:E752Q	ENSP00000312694:E752Q	E	+	1	0	GLI2	121463198	0.995000	0.38212	0.006000	0.13384	0.034000	0.12701	3.923000	0.56469	2.489000	0.83994	0.456000	0.33151	GAG	GLI2	-	NULL	ENSG00000074047		0.692	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3		0.00	23	0	G	NM_005270		121746728	+1			no_errors	ENST00000361492	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.024	C
GLIS2	84662	genome.wustl.edu	37	16	4387133	4387133	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:4387133delG	ENST00000262366.3	+	8	2004	c.1183delG	c.(1183-1185)gggfs	p.G397fs	GLIS2_ENST00000433375.1_Frame_Shift_Del_p.G397fs|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	397	Gly-rich.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CAGTGGGGGTGGGGGGGGCAT	0.726																																																	0													2.0	2.0	2.0					16																	4387133		1267	2863	4130	SO:0001589	frameshift_variant	0			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.1183delG	16.37:g.4387133delG	ENSP00000262366:p.Gly397fs		B3KX84	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G397fs	ENST00000262366.3	37	c.1183	CCDS10511.1	16																																																																																			GLIS2	-	NULL	ENSG00000126603		0.726	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1		0.00	25	0	G	NM_032575		4387133	+1	tier1		no_errors	ENST00000262366	ensembl	human	known	74_37	frame_shift_del	26.67	11	4	DEL	0.000	-
GLO1	2739	genome.wustl.edu	37	6	38652183	38652183	+	Missense_Mutation	SNP	G	G	A	rs371576917		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:38652183G>A	ENST00000373365.4	-	3	361	c.275C>T	c.(274-276)gCg>gTg	p.A92V	GLO1_ENST00000470973.1_5'Flank	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	92					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TCTGGAGAGCGCCCAGGCTAT	0.303																																																	0								G	VAL/ALA	1,4403	2.1+/-5.4	0,1,2201	68.0	62.0	64.0		275	-4.7	0.0	6		64	0,8598		0,0,4299	no	missense	GLO1	NM_006708.2	64	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	92/185	38652183	1,13001	2202	4299	6501	SO:0001583	missense	0			L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.275C>T	6.37:g.38652183G>A	ENSP00000362463:p.Ala92Val		B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1	p.A92V	ENST00000373365.4	37	c.275	CCDS4837.1	6	.	.	.	.	.	.	.	.	.	.	G	8.300	0.819806	0.16678	2.27E-4	0.0	ENSG00000124767	ENST00000373365	T	0.69175	-0.38	6.02	-4.73	0.03259	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.412177	0.29417	N	0.012205	T	0.21550	0.0519	N	0.04373	-0.215	0.09310	N	0.999998	B	0.13145	0.007	B	0.08055	0.003	T	0.07578	-1.0765	10	0.24483	T	0.36	-12.2015	20.0922	0.97824	0.1281:0.0:0.8719:0.0	.	92	Q04760	LGUL_HUMAN	V	92	ENSP00000362463:A92V	ENSP00000362463:A92V	A	-	2	0	GLO1	38760161	0.961000	0.32948	0.001000	0.08648	0.212000	0.24457	1.503000	0.35715	-0.738000	0.04817	-0.345000	0.07892	GCG	GLO1	-	pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1	ENSG00000124767		0.303	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLO1	HGNC	protein_coding	OTTHUMT00000040438.2	-	0.00	82	0	G	NM_006708		38652183	-1	tier1	-	no_errors	ENST00000373365	ensembl	human	known	74_37	missense	32.73	37	18	SNP	0.070	A
GLS	2744	genome.wustl.edu	37	2	191765292	191765292	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:191765292G>T	ENST00000320717.3	+	4	866	c.608G>T	c.(607-609)tGt>tTt	p.C203F	GLS_ENST00000338435.4_Missense_Mutation_p.C203F	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	203					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	TTCTACAGATGTGTTCAGAGC	0.284																																																	0													93.0	89.0	90.0					2																	191765292		2202	4298	6500	SO:0001583	missense	0			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.608G>T	2.37:g.191765292G>T	ENSP00000317379:p.Cys203Phe		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.C203F	ENST00000320717.3	37	c.608	CCDS2308.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067961	0.76301	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.49432	0.91;0.78	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.77103	2.36	0.80722	D	1	P;P	0.41366	0.747;0.706	B;B	0.42882	0.143;0.401	T	0.64257	-0.6450	10	0.72032	D	0.01	-13.3633	19.956	0.97218	0.0:0.0:1.0:0.0	.	203;203	O94925;O94925-3	GLSK_HUMAN;.	F	203	ENSP00000317379:C203F;ENSP00000340689:C203F	ENSP00000317379:C203F	C	+	2	0	GLS	191473537	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.792000	0.99085	2.788000	0.95919	0.557000	0.71058	TGT	GLS	-	NULL	ENSG00000115419		0.284	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS	HGNC	protein_coding	OTTHUMT00000255999.2	-	0.00	50	0	G			191765292	+1	tier1	-	no_errors	ENST00000320717	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
GLTSCR1	29998	genome.wustl.edu	37	19	48184449	48184449	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:48184449G>A	ENST00000396720.3	+	6	2216	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	674										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CGTCTAGCCCGGAGAAGATCG	0.746																																																	0													2.0	2.0	2.0					19																	48184449		1072	2401	3473	SO:0001819	synonymous_variant	0			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2022G>A	19.37:g.48184449G>A			A8MW01	Silent	SNP	NULL	p.P674	ENST00000396720.3	37	c.2022	CCDS46134.1	19																																																																																			GLTSCR1	-	NULL	ENSG00000063169		0.746	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1	HGNC	protein_coding	OTTHUMT00000465846.1	-	0.00	38	0	G	NM_015711		48184449	+1	tier1	-	no_errors	ENST00000396720	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.006	A
GLUD2	2747	genome.wustl.edu	37	X	120182541	120182541	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:120182541G>A	ENST00000328078.1	+	1	1080	c.1003G>A	c.(1003-1005)Ggg>Agg	p.G335R		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	335					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TGAGTCTGATGGGAGTATATG	0.423																																																	0													222.0	205.0	211.0					X																	120182541		2203	4297	6500	SO:0001583	missense	0			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1003G>A	X.37:g.120182541G>A	ENSP00000327589:p.Gly335Arg		B2R8G0|Q9UDQ4	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.G335R	ENST00000328078.1	37	c.1003	CCDS14603.1	X	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364993	0.41902	.	.	ENSG00000182890	ENST00000328078	D	0.98978	-5.29	1.61	1.61	0.23674	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.146150	0.64402	N	0.000007	D	0.99453	0.9806	H	0.98629	4.285	0.58432	D	0.999998	D	0.76494	0.999	D	0.75484	0.986	D	0.98200	1.0467	10	0.62326	D	0.03	-29.6175	8.7757	0.34760	0.0:0.0:1.0:0.0	.	335	P49448	DHE4_HUMAN	R	335	ENSP00000327589:G335R	ENSP00000327589:G335R	G	+	1	0	GLUD2	120010222	1.000000	0.71417	0.099000	0.21106	0.532000	0.34746	6.221000	0.72243	1.126000	0.42016	0.472000	0.43445	GGG	GLUD2	-	pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C	ENSG00000182890		0.423	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	HGNC	protein_coding	OTTHUMT00000058133.1	-	0.00	64	0	G	NM_012084		120182541	+1	tier1	-	no_errors	ENST00000328078	ensembl	human	known	74_37	missense	27.27	32	12	SNP	1.000	A
GLYR1	84656	genome.wustl.edu	37	16	4862229	4862229	+	Frame_Shift_Del	DEL	C	C	-	rs533332243		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:4862229delC	ENST00000321919.9	-	13	1216	c.1140delG	c.(1138-1140)gggfs	p.G380fs	GLYR1_ENST00000381983.3_Frame_Shift_Del_p.G363fs|GLYR1_ENST00000591451.1_Frame_Shift_Del_p.G374fs|GLYR1_ENST00000436648.5_Frame_Shift_Del_p.G299fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	380					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.R381fs*15(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCAGAAAGCGCCCCCCCCTGG	0.572																																																	1	Insertion - Frameshift(1)	large_intestine(1)											40.0	40.0	40.0					16																	4862229		2197	4300	6497	SO:0001589	frameshift_variant	0			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1140delG	16.37:g.4862229delC	ENSP00000322716:p.Gly380fs		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Del	DEL	pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom	p.R381fs	ENST00000321919.9	37	c.1140	CCDS10524.1	16																																																																																			GLYR1	-	pfam_6PGDH_NADP-bd	ENSG00000140632		0.572	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2		0.00	50	0	C	NM_032569		4862229	-1	tier1		no_errors	ENST00000321919	ensembl	human	known	74_37	frame_shift_del	29.55	31	13	DEL	0.170	-
GMPS	8833	genome.wustl.edu	37	3	155655421	155655421	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:155655421T>C	ENST00000496455.2	+	16	2357	c.2022T>C	c.(2020-2022)ggT>ggC	p.G674G	GMPS_ENST00000295920.7_Silent_p.G575G	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	674					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	AGATTCCTGGTATTTCTCGAA	0.368			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													73.0	70.0	71.0					3																	155655421		1805	4066	5871	SO:0001819	synonymous_variant	0			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.2022T>C	3.37:g.155655421T>C			A8K639|B4DXV7|F8W720	Silent	SNP	pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.G674	ENST00000496455.2	37	c.2022	CCDS46941.1	3																																																																																			GMPS	-	pfam_GMP_synth_C	ENSG00000163655		0.368	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2		0.00	70	0	T			155655421	+1			no_errors	ENST00000496455	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.994	C
GNA13	10672	genome.wustl.edu	37	17	63052564	63052564	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:63052564T>A	ENST00000439174.2	-	1	393	c.148A>T	c.(148-150)Aag>Tag	p.K50*	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	50					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AGCAGGATCTTCACCAGCCGC	0.632																																																	0													111.0	107.0	109.0					17																	63052564		2203	4300	6503	SO:0001587	stop_gained	0			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.148A>T	17.37:g.63052564T>A	ENSP00000400717:p.Lys50*		B2R977|B7Z7R0|F5H1G8|Q8TD70	Nonsense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12	p.K50*	ENST00000439174.2	37	c.148	CCDS11661.1	17	.	.	.	.	.	.	.	.	.	.	T	36	5.792518	0.96945	.	.	ENSG00000120063	ENST00000439174;ENST00000239138	.	.	.	3.91	3.91	0.45181	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3792	0.55297	0.0:0.0:0.0:1.0	.	.	.	.	X	50	.	ENSP00000239138:K50X	K	-	1	0	GNA13	60483026	1.000000	0.71417	0.853000	0.33588	0.006000	0.05464	5.566000	0.67372	1.391000	0.46566	0.379000	0.24179	AAG	GNA13	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000120063		0.632	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	-	0.00	101	0	T	NM_006572		63052564	-1	tier1	-	no_errors	ENST00000439174	ensembl	human	known	74_37	nonsense	17.05	72	15	SNP	1.000	A
GNA15	2769	genome.wustl.edu	37	19	3162988	3162988	+	Missense_Mutation	SNP	C	C	T	rs144051973		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:3162988C>T	ENST00000262958.3	+	7	1354	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	366					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R366C(2)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GGTGCTCGCCCGCTACCTGGA	0.672											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	skin(2)											85.0	72.0	77.0					19																	3162988		2203	4300	6503	SO:0001583	missense	0				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.1096C>T	19.37:g.3162988C>T	ENSP00000262958:p.Arg366Cys	609	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.R366C	ENST00000262958.3	37	c.1096	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	c	18.50	3.637038	0.67130	.	.	ENSG00000060558	ENST00000262958	D	0.82984	-1.67	3.9	3.9	0.45041	.	0.111669	0.37669	N	0.001982	T	0.75102	0.3804	L	0.42744	1.35	0.46725	D	0.999173	B	0.16802	0.019	B	0.15484	0.013	T	0.73379	-0.4001	10	0.56958	D	0.05	.	8.7792	0.34781	0.2253:0.7747:0.0:0.0	.	366	P30679	GNA15_HUMAN	C	366	ENSP00000262958:R366C	ENSP00000262958:R366C	R	+	1	0	GNA15	3113988	0.004000	0.15560	1.000000	0.80357	0.972000	0.66771	-0.031000	0.12287	2.001000	0.58596	0.491000	0.48974	CGC	GNA15	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000060558		0.672	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2		0.00	18	0	C	NM_002068		3162988	+1			no_errors	ENST00000262958	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T
GNL3	26354	genome.wustl.edu	37	3	52720836	52720836	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:52720836delA	ENST00000418458.1	+	2	238	c.65delA	c.(64-66)caafs	p.Q22fs	PBRM1_ENST00000394830.3_5'Flank|GNL3_ENST00000394799.2_Frame_Shift_Del_p.Q10fs|SNORD19B_ENST00000516978.1_RNA|GNL3_ENST00000460073.1_Intron|SNORD19_ENST00000391191.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	22	Basic. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TATAAAATCCAAAAAAAGGTA	0.388																																																	0													92.0	87.0	89.0					3																	52720836		2203	4300	6503	SO:0001589	frameshift_variant	0			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.65delA	3.37:g.52720836delA	ENSP00000395772:p.Gln22fs		B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Frame_Shift_Del	DEL	pfam_Gnl3_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.K24fs	ENST00000418458.1	37	c.65	CCDS2861.1	3																																																																																			GNL3	-	pfam_Gnl3_N_dom	ENSG00000163938		0.388	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	HGNC	protein_coding	OTTHUMT00000352032.1		0.00	78	0	A	NM_014366		52720836	+1	tier1		no_errors	ENST00000418458	ensembl	human	known	74_37	frame_shift_del	26.32	28	10	DEL	1.000	-
GOLGA4	2803	genome.wustl.edu	37	3	37368076	37368076	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:37368076C>A	ENST00000361924.2	+	14	5073	c.4699C>A	c.(4699-4701)Caa>Aaa	p.Q1567K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1589K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1567	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCAGAAACTTCAACATTTTCA	0.303																																																	0													69.0	80.0	77.0					3																	37368076		2194	4292	6486	SO:0001583	missense	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4699C>A	3.37:g.37368076C>A	ENSP00000354486:p.Gln1567Lys		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.Q1567K	ENST00000361924.2	37	c.4699	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281717	0.23392	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.33438	1.42;1.41;1.42	4.89	1.97	0.26223	.	0.481200	0.15537	N	0.257189	T	0.31638	0.0803	M	0.70275	2.135	0.27991	N	0.935672	B;B;B;B	0.12630	0.006;0.003;0.0;0.001	B;B;B;B	0.14578	0.011;0.003;0.002;0.002	T	0.22556	-1.0213	10	0.33141	T	0.24	.	10.703	0.45939	0.2664:0.6053:0.1283:0.0	.	1567;1567;1589;1567	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1567;1589;1438	ENSP00000354486:Q1567K;ENSP00000349305:Q1589K;ENSP00000405842:Q1438K	ENSP00000349305:Q1589K	Q	+	1	0	GOLGA4	37343080	1.000000	0.71417	0.220000	0.23810	0.966000	0.64601	1.529000	0.35996	0.164000	0.19529	-0.467000	0.05162	CAA	GOLGA4	-	NULL	ENSG00000144674		0.303	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	-	0.00	46	0	C	NM_002078		37368076	+1	tier1	-	no_errors	ENST00000361924	ensembl	human	known	74_37	missense	12.73	48	7	SNP	0.970	A
GOLGA4	2803	genome.wustl.edu	37	3	37368806	37368806	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:37368806T>C	ENST00000361924.2	+	14	5803	c.5429T>C	c.(5428-5430)tTg>tCg	p.L1810S	GOLGA4_ENST00000356847.4_Missense_Mutation_p.L1832S|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1810	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAATATTCCTTGATAGTAGCC	0.378																																																	0													55.0	57.0	56.0					3																	37368806		2203	4300	6503	SO:0001583	missense	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5429T>C	3.37:g.37368806T>C	ENSP00000354486:p.Leu1810Ser		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.L1810S	ENST00000361924.2	37	c.5429	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.294908	0.05568	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.26067	1.76;1.76;1.77	4.44	0.703	0.18116	.	1.622650	0.04634	N	0.404176	T	0.19087	0.0458	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.15473	0.013;0.013;0.013;0.008	B;B;B;B	0.14578	0.011;0.011;0.011;0.003	T	0.27020	-1.0086	10	0.09338	T	0.73	.	9.1952	0.37224	0.0:0.2293:0.0:0.7707	.	1810;1810;1832;1810	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	S	1810;1832;1681	ENSP00000354486:L1810S;ENSP00000349305:L1832S;ENSP00000405842:L1681S	ENSP00000349305:L1832S	L	+	2	0	GOLGA4	37343810	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	0.257000	0.18369	0.297000	0.22615	0.448000	0.29417	TTG	GOLGA4	-	NULL	ENSG00000144674		0.378	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	-	0.00	33	0	T	NM_002078		37368806	+1	tier1	-	no_errors	ENST00000361924	ensembl	human	known	74_37	missense	24.32	28	9	SNP	0.000	C
GON4L	54856	genome.wustl.edu	37	1	155753824	155753826	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:155753824_155753826delCTC	ENST00000368331.1	-	14	1891_1893	c.1843_1845delGAG	c.(1843-1845)gagdel	p.E615del	GON4L_ENST00000271883.5_In_Frame_Del_p.E615del|GON4L_ENST00000361040.5_In_Frame_Del_p.E615del|GON4L_ENST00000437809.1_In_Frame_Del_p.E615del|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	615					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGCTACACACTCCTCCTCTTCT	0.483																																																	0																																										SO:0001651	inframe_deletion	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1843_1845delGAG	1.37:g.155753830_155753832delCTC	ENSP00000357315:p.Glu615del		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	In_Frame_Del	DEL	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E615in_frame_del	ENST00000368331.1	37	c.1845_1843		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.483	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding			0.00	105	0	CTC	NM_032292		155753826	-1	tier1		no_errors	ENST00000368331	ensembl	human	known	74_37	in_frame_del	9.57	85	9	DEL	0.962:0.996:1.000	-
GPALPP1	55425	genome.wustl.edu	37	13	45602077	45602078	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:45602077_45602078insA	ENST00000379151.4	+	8	1065_1066	c.962_963insA	c.(961-966)ataaaafs	p.IK321fs	GPALPP1_ENST00000361121.2_Frame_Shift_Ins_p.IK321fs|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_Frame_Shift_Ins_p.IK151fs	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	321																	AAAGCCCTAATAAAAAAATCTA	0.332																																																	0																																										SO:0001589	frameshift_variant	0			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.969dupA	13.37:g.45602084_45602084dupA	ENSP00000368447:p.Ile321fs		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Frame_Shift_Ins	INS	pfam_DUF3752	p.S324fs	ENST00000379151.4	37	c.962_963	CCDS9394.1	13																																																																																			GPALPP1	-	pfam_DUF3752	ENSG00000133114		0.332	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPALPP1	HGNC	protein_coding	OTTHUMT00000044749.2		0.00	106	0	-	NM_018559		45602078	+1	tier1		no_errors	ENST00000361121	ensembl	human	known	74_37	frame_shift_ins	13.83	81	13	INS	1.000:1.000	A
GPATCH4	54865	genome.wustl.edu	37	1	156571204	156571204	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156571204C>A	ENST00000438976.2	-	1	58	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	GPATCH4_ENST00000334588.7_5'UTR|GPATCH4_ENST00000497287.1_5'Flank|GPATCH4_ENST00000368232.4_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	0							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCTTACCGTCATTGCTGGGT	0.577																																																	0													39.0	42.0	41.0					1																	156571204		1891	4110	6001	SO:0001583	missense	0			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.28G>T	1.37:g.156571204C>A	ENSP00000396441:p.Asp10Tyr		Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.D10Y	ENST00000438976.2	37	c.28	CCDS44245.1	1	.	.	.	.	.	.	.	.	.	.	C	8.746	0.920189	0.17982	.	.	ENSG00000160818	ENST00000438976	.	.	.	4.33	1.31	0.21738	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.30316	N	0.788055	P	0.40476	0.718	B	0.36885	0.235	T	0.18618	-1.0331	8	0.72032	D	0.01	.	4.5051	0.11883	0.0:0.5546:0.2397:0.2057	.	10	E9PAV9	.	Y	10	.	ENSP00000396441:D10Y	D	-	1	0	GPATCH4	154837828	0.000000	0.05858	0.013000	0.15412	0.101000	0.19017	-0.313000	0.08103	0.297000	0.22615	0.650000	0.86243	GAC	GPATCH4	-	NULL	ENSG00000160818		0.577	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPATCH4	HGNC	protein_coding	OTTHUMT00000386947.1	-	0.00	49	0	C	NM_017725		156571204	-1	tier1	-	no_errors	ENST00000438976	ensembl	human	known	74_37	missense	11.29	55	7	SNP	0.004	A
GPBAR1	151306	genome.wustl.edu	37	2	219128070	219128070	+	Missense_Mutation	SNP	G	G	A	rs376966143		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:219128070G>A	ENST00000522678.1	+	2	1491	c.623G>A	c.(622-624)cGc>cAc	p.R208H	GPBAR1_ENST00000521462.1_Missense_Mutation_p.R208H|GPBAR1_ENST00000479077.1_Missense_Mutation_p.R208H|GPBAR1_ENST00000519574.1_Missense_Mutation_p.R208H	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	208					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGTGTGCCGCGATGAGCCC	0.716																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	1,3915		0,1,1957	13.0	14.0	14.0		623,623,623	4.1	0.1	2		14	0,8242		0,0,4121	no	missense,missense,missense	GPBAR1	NM_001077191.1,NM_001077194.1,NM_170699.2	29,29,29	0,1,6078	AA,AG,GG		0.0,0.0255,0.0082	probably-damaging,probably-damaging,probably-damaging	208/331,208/331,208/331	219128070	1,12157	1958	4121	6079	SO:0001583	missense	0			AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.623G>A	2.37:g.219128070G>A	ENSP00000430886:p.Arg208His		B3KV35	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R208H	ENST00000522678.1	37	c.623	CCDS46515.1	2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438706	0.43326	2.55E-4	0.0	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.96	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.073865	0.56097	U	0.000038	T	0.43478	0.1249	L	0.50333	1.59	0.37676	D	0.923313	D	0.89917	1.0	D	0.73380	0.98	T	0.46148	-0.9212	10	0.41790	T	0.15	-12.4615	14.4218	0.67187	0.0:0.1487:0.8513:0.0	.	208	Q8TDU6	GPBAR_HUMAN	H	208	ENSP00000430698:R208H;ENSP00000430886:R208H;ENSP00000430202:R208H;ENSP00000428824:R208H	ENSP00000430698:R208H	R	+	2	0	GPBAR1	218836314	0.997000	0.39634	0.077000	0.20336	0.058000	0.15608	4.515000	0.60489	1.299000	0.44798	0.561000	0.74099	CGC	GPBAR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000179921		0.716	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBAR1	HGNC	protein_coding	OTTHUMT00000338767.3		0.00	23	0	G	NM_001077191		219128070	+1			no_errors	ENST00000479077	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.896	A
GPBP1L1	60313	genome.wustl.edu	37	1	46093288	46093288	+	3'UTR	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:46093288T>A	ENST00000290795.3	-	0	3286				GPBP1L1_ENST00000355105.3_3'UTR|GPBP1L1_ENST00000479235.1_5'UTR			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1						positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ATCTTTGAAATCTCACAAAAA	0.294																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.*640A>T	1.37:g.46093288T>A			D3DQ10|Q9H751	RNA	SNP	-	NULL	ENST00000290795.3	37	NULL	CCDS528.1	1																																																																																			GPBP1L1	-	-	ENSG00000159592		0.294	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBP1L1	HGNC	protein_coding	OTTHUMT00000098375.1	-	0.00	115	0	T	NM_021639		46093288	-1	tier1	-	no_errors	ENST00000479235	ensembl	human	known	74_37	rna	11.11	104	13	SNP	1.000	A
GPC4	2239	genome.wustl.edu	37	X	132439923	132439923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:132439923delG	ENST00000370828.3	-	6	1556	c.1032delC	c.(1030-1032)cccfs	p.P344fs	GPC4_ENST00000535467.1_Frame_Shift_Del_p.P274fs	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	344					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.K345fs*49(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GGAGGGGCTTGGGGGGTCCAC	0.587																																																	1	Deletion - Frameshift(1)	large_intestine(1)											145.0	150.0	148.0					X																	132439923		2203	4300	6503	SO:0001589	frameshift_variant	0			AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1032delC	X.37:g.132439923delG	ENSP00000359864:p.Pro344fs		B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Frame_Shift_Del	DEL	pfam_Glypican	p.K345fs	ENST00000370828.3	37	c.1032	CCDS14637.1	X																																																																																			GPC4	-	pfam_Glypican	ENSG00000076716		0.587	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC4	HGNC	protein_coding	OTTHUMT00000058338.1		0.00	72	0	G	NM_001448		132439923	-1	tier1		no_errors	ENST00000370828	ensembl	human	known	74_37	frame_shift_del	15.79	48	9	DEL	0.073	-
GPR123	84435	genome.wustl.edu	37	10	134912169	134912169	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:134912169C>T	ENST00000392607.3	+	4	593	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	GPR123_ENST00000607359.1_Missense_Mutation_p.R773W	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	53					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCGCAAGGGCCGGCACACGCT	0.652																																																	0													66.0	61.0	63.0					10																	134912169		2203	4300	6503	SO:0001583	missense	0			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.157C>T	10.37:g.134912169C>T	ENSP00000376384:p.Arg53Trp		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.R773W	ENST00000392607.3	37	c.2317	CCDS41580.1	10	.	.	.	.	.	.	.	.	.	.	C	0.201	-1.044629	0.01997	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.42900	0.96	4.35	0.786	0.18590	GPCR, family 2-like (1);	0.297719	0.24289	N	0.039838	T	0.14787	0.0357	N	0.03903	-0.33	0.80722	D	1	B;B	0.14012	0.0;0.009	B;B	0.09377	0.001;0.004	T	0.04870	-1.0921	10	0.33141	T	0.24	-43.4564	2.3199	0.04207	0.2254:0.4075:0.0:0.367	.	53;773	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	W	773;773;53	ENSP00000376384:R53W	ENSP00000357566:R773W	R	+	1	2	GPR123	134762159	0.998000	0.40836	0.917000	0.36280	0.223000	0.24884	2.189000	0.42621	0.379000	0.24794	-0.137000	0.14449	CGG	GPR123	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000197177		0.652	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2	-	0.00	89	0	C			134912169	+1	tier1	-	no_errors	ENST00000607359	ensembl	human	putative	74_37	missense	35.90	50	28	SNP	0.999	T
GPR157	80045	genome.wustl.edu	37	1	9165716	9165716	+	Silent	SNP	C	C	T	rs372833072		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:9165716C>T	ENST00000377411.4	-	3	763	c.621G>A	c.(619-621)cgG>cgA	p.R207R	GPR157_ENST00000414642.2_Intron	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGGATGGGCCGGTACTCAG	0.647																																																	0													72.0	59.0	63.0					1																	9165716		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.621G>A	1.37:g.9165716C>T			A2A334|Q8WWB8|Q9HA73	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfam_Frizzled,pfscan_GPCR_Rhodpsn_7TM,pfscan_GPCR_2-like,prints_GCR1-cAMP_receptor	p.R207	ENST00000377411.4	37	c.621	CCDS100.2	1																																																																																			GPR157	-	pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfscan_GPCR_2-like	ENSG00000180758		0.647	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR157	HGNC	protein_coding	OTTHUMT00000127658.2	-	0.00	37	0	C	NM_024980		9165716	-1	tier1	-	no_errors	ENST00000377411	ensembl	human	known	74_37	silent	15.15	28	5	SNP	0.968	T
GPR158	57512	genome.wustl.edu	37	10	25464743	25464743	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:25464743G>A	ENST00000376351.3	+	1	753	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	132					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACTGACACACGCCACCAACTT	0.652																																																	0													70.0	71.0	71.0					10																	25464743		2203	4300	6503	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.394G>A	10.37:g.25464743G>A	ENSP00000365529:p.Ala132Thr		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.A132T	ENST00000376351.3	37	c.394	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.107523	0.94292	.	.	ENSG00000151025	ENST00000376351	T	0.78924	-1.22	4.72	4.72	0.59763	.	0.074223	0.51477	D	0.000097	D	0.84880	0.5570	L	0.58583	1.82	0.58432	D	0.999999	D	0.71674	0.998	P	0.62184	0.899	D	0.86345	0.1707	10	0.62326	D	0.03	.	17.8684	0.88803	0.0:0.0:1.0:0.0	.	132	Q5T848	GP158_HUMAN	T	132	ENSP00000365529:A132T	ENSP00000365529:A132T	A	+	1	0	GPR158	25504749	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.408000	0.80041	2.462000	0.83206	0.467000	0.42956	GCC	GPR158	-	NULL	ENSG00000151025		0.652	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0.00	68	0	G	XM_166110		25464743	+1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	A
GPR179	440435	genome.wustl.edu	37	17	36499361	36499361	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:36499361C>A	ENST00000342292.4	-	1	332	c.312G>T	c.(310-312)caG>caT	p.Q104H		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	104					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AATTGGCGGCCTGGGCAAGGG	0.617																																																	0													30.0	32.0	31.0					17																	36499361		2056	4183	6239	SO:0001583	missense	0				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.312G>T	17.37:g.36499361C>A	ENSP00000345060:p.Gln104His			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.Q104H	ENST00000342292.4	37	c.312	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161124	0.21538	.	.	ENSG00000188888	ENST00000342292	T	0.78816	-1.21	4.93	2.88	0.33553	.	0.154839	0.44097	D	0.000486	T	0.51210	0.1661	N	0.25890	0.77	0.33561	D	0.597401	P	0.39480	0.675	B	0.28553	0.091	T	0.56044	-0.8044	10	0.11182	T	0.66	-18.8475	3.4059	0.07340	0.3097:0.481:0.0:0.2093	.	104	Q6PRD1	GP179_HUMAN	H	104	ENSP00000345060:Q104H	ENSP00000345060:Q104H	Q	-	3	2	GPR179	33752887	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.593000	0.23999	1.360000	0.45960	0.655000	0.94253	CAG	GPR179	-	NULL	ENSG00000188888		0.617	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	-	0.00	54	0	C			36499361	-1	tier1	-	no_errors	ENST00000342292	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A
GPR20	2843	genome.wustl.edu	37	8	142367933	142367933	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:142367933C>T	ENST00000377741.3	-	2	181	c.91G>A	c.(91-93)Gag>Aag	p.E31K	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	31					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			AGGGGCACCTCCAGCCCGCTG	0.682																																																	0													45.0	44.0	45.0					8																	142367933		2203	4300	6503	SO:0001583	missense	0			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.91G>A	8.37:g.142367933C>T	ENSP00000366970:p.Glu31Lys		Q17R96	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E31K	ENST00000377741.3	37	c.91	CCDS34949.1	8	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882514	0.33255	.	.	ENSG00000204882	ENST00000377741	T	0.60797	0.16	3.68	3.68	0.42216	.	0.572132	0.15765	N	0.245738	T	0.39118	0.1066	L	0.27053	0.805	0.36044	D	0.840314	B	0.30482	0.281	B	0.24974	0.057	T	0.37126	-0.9719	10	0.07175	T	0.84	-8.6862	13.2571	0.60085	0.0:1.0:0.0:0.0	.	31	Q99678	GPR20_HUMAN	K	31	ENSP00000366970:E31K	ENSP00000366970:E31K	E	-	1	0	GPR20	142437115	0.120000	0.22244	0.034000	0.17996	0.087000	0.18053	2.836000	0.48183	1.766000	0.52107	0.561000	0.74099	GAG	GPR20	-	NULL	ENSG00000204882		0.682	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	-	0.00	104	0	C	NM_005293		142367933	-1	tier1	-	no_errors	ENST00000377741	ensembl	human	known	74_37	missense	11.43	93	12	SNP	0.809	T
GPR37L1	9283	genome.wustl.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:202097525_202097527delCTG	ENST00000367282.5	+	2	1393_1395	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	436	Cys-rich.				negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626																																																	0										2,128,4136		0,0,2,9,110,2012						3.1	1.0			46	5,240,8007		0,0,5,10,220,3891	no	codingComplex	GPR37L1	NM_004767.3		0,0,7,19,330,5903	A1A1,A1A2,A1R,A2A2,A2R,RR		2.969,3.0474,2.9957				7,368,12143				SO:0001651	inframe_deletion	0			AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1287_1289delCTG	1.37:g.202097534_202097536delCTG	ENSP00000356251:p.Cys436del		B2R7M9|Q5SXP7|Q86VP7	In_Frame_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.C433in_frame_del	ENST00000367282.5	37	c.1287_1289	CCDS1420.1	1																																																																																			GPR37L1	-	NULL	ENSG00000170075		0.626	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37L1	HGNC	protein_coding	OTTHUMT00000087496.2		0.00	54	0	CTG	NM_004767		202097527	+1	tier1		no_errors	ENST00000367282	ensembl	human	known	74_37	in_frame_del	7.58	61	5	DEL	0.998:0.998:0.996	-
GPR52	9293	genome.wustl.edu	37	1	174417673	174417673	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:174417673G>A	ENST00000367685.2	+	1	462	c.424G>A	c.(424-426)Gca>Aca	p.A142T	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	142					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TCGTTATCTTGCAATAACCAA	0.413																																					Ovarian(92;924 1390 1930 16467 40583)												0													198.0	195.0	196.0					1																	174417673		2203	4300	6503	SO:0001583	missense	0			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.424G>A	1.37:g.174417673G>A	ENSP00000356658:p.Ala142Thr		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A142T	ENST00000367685.2	37	c.424	CCDS30941.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228458	0.79576	.	.	ENSG00000203737	ENST00000367685	T	0.53423	0.62	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.71484	0.3345	M	0.74647	2.275	0.48135	D	0.999598	D	0.89917	1.0	D	0.97110	1.0	T	0.72707	-0.4212	10	0.87932	D	0	-9.2875	20.2789	0.98501	0.0:0.0:1.0:0.0	.	142	Q9Y2T5	GPR52_HUMAN	T	142	ENSP00000356658:A142T	ENSP00000356658:A142T	A	+	1	0	GPR52	172684296	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.441000	0.97557	2.788000	0.95919	0.650000	0.86243	GCA	GPR52	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000203737		0.413	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1		0.00	42	0	G	NM_005684		174417673	+1			no_errors	ENST00000367685	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	89939702	89939702	+	Missense_Mutation	SNP	C	C	T	rs201007778		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:89939702C>T	ENST00000405460.2	+	14	2732	c.2636C>T	c.(2635-2637)aCg>aTg	p.T879M		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	879	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCAATATAACGATTCTGAAA	0.403																																																	0								C	MET/THR	0,3824		0,0,1912	102.0	99.0	100.0		2636	5.1	0.9	5		100	4,8250		0,4,4123	yes	missense	GPR98	NM_032119.3	81	0,4,6035	TT,TC,CC		0.0485,0.0,0.0331	probably-damaging	879/6307	89939702	4,12074	1912	4127	6039	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2636C>T	5.37:g.89939702C>T	ENSP00000384582:p.Thr879Met		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.T879M	ENST00000405460.2	37	c.2636	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765393	0.69878	0.0	4.85E-4	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.37058	1.22	5.05	5.05	0.67936	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73020	-0.4114	10	0.87932	D	0	.	18.3953	0.90496	0.0:1.0:0.0:0.0	.	879	Q8WXG9	GPR98_HUMAN	M	879	ENSP00000384582:T879M	ENSP00000296619:T879M	T	+	2	0	GPR98	89975458	1.000000	0.71417	0.917000	0.36280	0.210000	0.24377	7.021000	0.76425	2.344000	0.79699	0.655000	0.94253	ACG	GPR98	-	smart_Calx_beta	ENSG00000164199		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0.00	63	0	C	NM_032119		89939702	+1	tier1	rs201007778	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	28.57	35	14	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	90119242	90119242	+	Splice_Site	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:90119242G>A	ENST00000405460.2	+	76	16293	c.16197G>A	c.(16195-16197)agG>agA	p.R5399R	GPR98_ENST00000425867.2_Splice_Site_p.R1060R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5399	Calx-beta 35. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCTCACAGGGCCTTTGAAG	0.448																																																	0													106.0	109.0	108.0					5																	90119242		1964	4133	6097	SO:0001630	splice_region_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16197-1G>A	5.37:g.90119242G>A			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R5399	ENST00000405460.2	37	c.16197	CCDS47246.1	5																																																																																			GPR98	-	NULL	ENSG00000164199		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0.00	62	0	G	NM_032119	Silent	90119242	+1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	silent	25.00	42	14	SNP	1.000	A
GPRIN2	9721	genome.wustl.edu	37	10	47000073	47000073	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:47000073T>C	ENST00000374317.1	+	3	1466	c.1193T>C	c.(1192-1194)gTg>gCg	p.V398A	GPRIN2_ENST00000374314.4_Missense_Mutation_p.V398A	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	398										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGAGCTGCGGTGGACCTGGAG	0.652																																																	0													160.0	130.0	140.0					10																	47000073		2203	4300	6503	SO:0001583	missense	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1193T>C	10.37:g.47000073T>C	ENSP00000363436:p.Val398Ala		Q5SVF0	Missense_Mutation	SNP	NULL	p.V398A	ENST00000374317.1	37	c.1193	CCDS31192.1	10	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349472	0.61183	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.30714	1.52;1.52	4.65	4.65	0.58169	.	0.202748	0.24628	N	0.036910	T	0.43366	0.1244	M	0.71581	2.175	0.49299	D	0.999773	P	0.49961	0.93	P	0.50270	0.636	T	0.46965	-0.9153	10	0.72032	D	0.01	-7.2763	12.3248	0.55005	0.0:0.0:0.0:1.0	.	398	O60269	GRIN2_HUMAN	A	398	ENSP00000363436:V398A;ENSP00000363433:V398A	ENSP00000363433:V398A	V	+	2	0	GPRIN2	46420079	1.000000	0.71417	0.935000	0.37517	0.406000	0.30931	7.927000	0.87577	1.871000	0.54225	0.260000	0.18958	GTG	GPRIN2	-	NULL	ENSG00000204175		0.652	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	-	0.00	92	0	T	NM_014696		47000073	+1	tier1	-	no_errors	ENST00000374314	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	C
GPX7	2882	genome.wustl.edu	37	1	53073995	53073995	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:53073995G>T	ENST00000361314.4	+	3	500	c.462G>T	c.(460-462)aaG>aaT	p.K154N		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	154					response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	CAGATGGAAAGGTGGTAGGGG	0.542																																																	0													114.0	111.0	112.0					1																	53073995		2203	4300	6503	SO:0001583	missense	0			AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	ENST00000361314.4:c.462G>T	1.37:g.53073995G>T	ENSP00000354677:p.Lys154Asn		O95337|Q5T501	Missense_Mutation	SNP	pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7	p.K154N	ENST00000361314.4	37	c.462	CCDS569.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924740	0.52653	.	.	ENSG00000116157	ENST00000361314	T	0.22743	1.94	5.3	3.18	0.36537	Thioredoxin-like fold (2);	0.089128	0.85682	D	0.000000	T	0.14313	0.0346	L	0.43152	1.355	0.58432	D	0.999994	B	0.28820	0.224	B	0.28638	0.092	T	0.08432	-1.0722	10	0.24483	T	0.36	-26.6313	4.207	0.10493	0.4922:0.0:0.5078:0.0	.	154	Q96SL4	GPX7_HUMAN	N	154	ENSP00000354677:K154N	ENSP00000354677:K154N	K	+	3	2	GPX7	52846583	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	2.374000	0.44274	1.239000	0.43787	0.313000	0.20887	AAG	GPX7	-	superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7	ENSG00000116157		0.542	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX7	HGNC	protein_coding	OTTHUMT00000022913.1	-	0.00	41	0	G	NM_015696		53073995	+1	tier1	-	no_errors	ENST00000361314	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	T
GREB1	9687	genome.wustl.edu	37	2	11767102	11767102	+	Missense_Mutation	SNP	C	C	T	rs372022602		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:11767102C>T	ENST00000381486.2	+	25	4621	c.4321C>T	c.(4321-4323)Cgg>Tgg	p.R1441W	GREB1_ENST00000396123.1_Missense_Mutation_p.R439W|GREB1_ENST00000234142.5_Missense_Mutation_p.R1441W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1441						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGGGATGTCCCGGAAGCCGGA	0.527																																					Ovarian(39;850 945 2785 23371 33093)												0								C	TRP/ARG	0,4042		0,0,2021	67.0	72.0	70.0		4321	1.0	0.5	2		70	1,8355		0,1,4177	no	missense	GREB1	NM_014668.3	101	0,1,6198	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1441/1950	11767102	1,12397	2021	4178	6199	SO:0001583	missense	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4321C>T	2.37:g.11767102C>T	ENSP00000370896:p.Arg1441Trp		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R1441W	ENST00000381486.2	37	c.4321	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890166	0.52014	0.0	1.2E-4	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.24350	3.18;3.18;1.86	5.58	0.966	0.19667	.	0.437004	0.25394	N	0.030988	T	0.19927	0.0479	L	0.55481	1.735	0.31758	N	0.633731	P	0.42993	0.797	B	0.30716	0.119	T	0.27020	-1.0086	10	0.48119	T	0.1	-37.9196	13.7889	0.63128	0.7442:0.2558:0.0:0.0	.	1441	Q4ZG55	GREB1_HUMAN	W	1441;1441;439	ENSP00000370896:R1441W;ENSP00000234142:R1441W;ENSP00000379429:R439W	ENSP00000234142:R1441W	R	+	1	2	GREB1	11684553	0.365000	0.25006	0.516000	0.27786	0.568000	0.35870	0.704000	0.25661	0.231000	0.21079	0.655000	0.94253	CGG	GREB1	-	NULL	ENSG00000196208		0.527	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0.00	55	0	C	NM_014668		11767102	+1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	missense	14.04	49	8	SNP	0.321	T
GRB14	2888	genome.wustl.edu	37	2	165353548	165353548	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:165353548C>T	ENST00000263915.3	-	12	1890	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Missense_Mutation_p.R364Q	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	451	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AATAATCAATCGCTGAGCCTC	0.373																																																	0													83.0	78.0	80.0					2																	165353548		2203	4300	6503	SO:0001583	missense	0				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1352G>A	2.37:g.165353548C>T	ENSP00000263915:p.Arg451Gln		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.R451Q	ENST00000263915.3	37	c.1352	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154895	0.57259	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	D;D;D	0.92647	-2.45;-2.45;-3.08	6.05	4.23	0.50019	SH2 motif (5);	0.221304	0.42172	N	0.000760	D	0.84817	0.5556	L	0.27944	0.81	0.37092	D	0.899507	B;B	0.24043	0.09;0.096	B;B	0.17098	0.01;0.017	T	0.83223	-0.0067	10	0.48119	T	0.1	-4.743	8.8432	0.35155	0.0:0.7279:0.0:0.2721	.	364;451	B7Z7F9;Q14449	.;GRB14_HUMAN	Q	451;364;406	ENSP00000263915:R451Q;ENSP00000443699:R364Q;ENSP00000416786:R406Q	ENSP00000263915:R451Q	R	-	2	0	GRB14	165061794	0.217000	0.23597	0.957000	0.39632	0.944000	0.59088	1.496000	0.35638	1.544000	0.49359	0.650000	0.86243	CGA	GRB14	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000115290		0.373	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	-	0.00	38	0	C			165353548	-1	tier1	-	no_errors	ENST00000263915	ensembl	human	known	74_37	missense	31.58	25	12	SNP	0.893	T
GRID1	2894	genome.wustl.edu	37	10	87407023	87407023	+	Missense_Mutation	SNP	C	C	A	rs150986701		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:87407023C>A	ENST00000327946.7	-	13	2214	c.2129G>T	c.(2128-2130)cGg>cTg	p.R710L	GRID1_ENST00000536331.1_Missense_Mutation_p.R281L|RN7SKP238_ENST00000516483.1_RNA|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	710					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCTGATGGTCCGCCAGAGTTC	0.572										Multiple Myeloma(13;0.14)																																							0													256.0	235.0	242.0					10																	87407023		2203	4300	6503	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2129G>T	10.37:g.87407023C>A	ENSP00000330148:p.Arg710Leu		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R710L	ENST00000327946.7	37	c.2129	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318247	0.60524	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.26660	1.72;1.72	5.7	3.52	0.40303	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.143577	0.64402	D	0.000010	T	0.30916	0.0780	M	0.78801	2.425	0.58432	D	0.999998	B	0.22800	0.075	B	0.17433	0.018	T	0.25433	-1.0132	10	0.59425	D	0.04	.	12.4853	0.55868	0.0:0.8401:0.0:0.1599	.	710	Q9ULK0	GRID1_HUMAN	L	710;281	ENSP00000330148:R710L;ENSP00000444455:R281L	ENSP00000330148:R710L	R	-	2	0	GRID1	87397003	1.000000	0.71417	0.983000	0.44433	0.946000	0.59487	1.467000	0.35321	1.413000	0.46997	0.650000	0.86243	CGG	GRID1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000182771		0.572	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3		0.00	57	0	C	XM_043613		87407023	-1			no_errors	ENST00000327946	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.998	A
GRID2	2895	genome.wustl.edu	37	4	93225753	93225754	+	5'UTR	DEL	AA	AA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:93225753_93225754delAA	ENST00000282020.4	+	0	204_205				GRID2_ENST00000510992.1_5'Flank|RP11-9B6.1_ENST00000504213.1_5'Flank|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2						cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GGACTGTTTGAAAAAAAAAAAA	0.426																																																	0										103,10,355,3798		0,0,2,101,4,0,2,0,353,1671						-3.7	0.0			93	172,13,456,7613		0,0,0,172,4,1,4,1,453,3492	no	utr-5	GRID2	NM_001510.2		0,0,2,273,8,1,6,1,806,5163	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		7.7659,10.9705,8.8578				275,23,811,11411				SO:0001623	5_prime_UTR_variant	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.-54AA>-	4.37:g.93225763_93225764delAA			E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	RNA	DEL	-	NULL	ENST00000282020.4	37	NULL	CCDS3637.1	4																																																																																			GRID2	-	-	ENSG00000152208		0.426	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2		0.00	41	0	AA			93225754	+1	tier1		no_errors	ENST00000505687	ensembl	human	known	74_37	rna	25.00	30	10	DEL	0.000:0.000	-
GRIK2	2898	genome.wustl.edu	37	6	102503431	102503432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:102503431_102503432insA	ENST00000421544.1	+	15	3028_3029	c.2538_2539insA	c.(2539-2541)aaafs	p.K847fs	GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000369138.1_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.K771fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.K798fs	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	847					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TATACAAATCCAAAAAAAACGC	0.351																																																	2	Deletion - Frameshift(2)	lung(2)																																								SO:0001589	frameshift_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2546dupA	6.37:g.102503439_102503439dupA	ENSP00000397026:p.Lys847fs		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Ins	INS	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N848fs	ENST00000421544.1	37	c.2538_2539	CCDS5048.1	6																																																																																			GRIK2	-	NULL	ENSG00000164418		0.351	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1		0.00	24	0	-			102503432	+1	tier1		no_errors	ENST00000421544	ensembl	human	known	74_37	frame_shift_ins	16.67	30	6	INS	1.000:1.000	A
GRIK2	2898	genome.wustl.edu	37	6	102503432	102503432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:102503432delA	ENST00000421544.1	+	15	3029	c.2539delA	c.(2539-2541)aaafs	p.K848fs	GRIK2_ENST00000318991.6_Frame_Shift_Del_p.K848fs|GRIK2_ENST00000413795.1_Frame_Shift_Del_p.K848fs|GRIK2_ENST00000369138.1_Frame_Shift_Del_p.K848fs|GRIK2_ENST00000369137.3_Frame_Shift_Del_p.K772fs|GRIK2_ENST00000369134.4_Frame_Shift_Del_p.K799fs	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	848					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATACAAATCCAAAAAAAACGC	0.348																																																	2	Deletion - Frameshift(2)	lung(2)											77.0	88.0	84.0					6																	102503432		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2539delA	6.37:g.102503432delA	ENSP00000397026:p.Lys848fs		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Del	DEL	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N849fs	ENST00000421544.1	37	c.2539	CCDS5048.1	6																																																																																			GRIK2	-	NULL	ENSG00000164418		0.348	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1		0.00	24	0	A			102503432	+1	tier1		no_errors	ENST00000421544	ensembl	human	known	74_37	frame_shift_del	25.71	26	9	DEL	1.000	-
GRIK5	2901	genome.wustl.edu	37	19	42509894	42509894	+	Silent	SNP	G	G	A	rs139193138		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:42509894G>A	ENST00000262895.3	-	16	2243	c.2244C>T	c.(2242-2244)taC>taT	p.Y748Y	GRIK5_ENST00000301218.4_Silent_p.Y748Y|GRIK5_ENST00000593562.1_Silent_p.Y748Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	748					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TGCCAATGCCGTAGCCCTTGG	0.647																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	88.0	60.0	69.0		2244	-0.8	1.0	19	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRIK5	NM_002088.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		748/981	42509894	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2244C>T	19.37:g.42509894G>A			Q8WWG8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Y748	ENST00000262895.3	37	c.2244	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	G	8.405	0.842801	0.16963	2.27E-4	2.33E-4	ENSG00000105737	ENST00000454993	.	.	.	5.23	-0.843	0.10744	.	.	.	.	.	T	0.56031	0.1958	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51419	-0.8708	4	.	.	.	.	10.2809	0.43539	0.3967:0.0:0.6033:0.0	.	.	.	.	W	125	.	.	R	-	1	2	GRIK5	47201734	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.494000	0.35616	-0.077000	0.12752	-0.253000	0.11424	CGG	GRIK5	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000105737		0.647	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1		0.00	49	0	G			42509894	-1			no_errors	ENST00000301218	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	A
GRIN2B	2904	genome.wustl.edu	37	12	13764669	13764669	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:13764669A>G	ENST00000609686.1	-	8	1979	c.1770T>C	c.(1768-1770)gcT>gcC	p.A590A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	590					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCTGCCATCAGCGAGGCACC	0.488																																																	0													108.0	106.0	107.0					12																	13764669		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1770T>C	12.37:g.13764669A>G			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A590	ENST00000609686.1	37	c.1770	CCDS8662.1	12																																																																																			GRIN2B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000273079		0.488	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	-	0.00	50	0	A			13764669	-1	tier1	-	no_errors	ENST00000609686	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.915	G
GRIN2C	2905	genome.wustl.edu	37	17	72850835	72850835	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:72850835T>C	ENST00000293190.5	-	2	543	c.397A>G	c.(397-399)Aag>Gag	p.K133E	GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.K133E	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	133					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACATGCACCTTGGGGGTGAGG	0.622																																																	0													72.0	68.0	69.0					17																	72850835		2203	4300	6503	SO:0001583	missense	0				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.397A>G	17.37:g.72850835T>C	ENSP00000293190:p.Lys133Glu		B2RTT1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K133E	ENST00000293190.5	37	c.397	CCDS32724.1	17	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983055	0.34942	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	D	0.85629	-2.01	4.63	4.63	0.57726	Extracellular ligand-binding receptor (1);	0.055351	0.64402	D	0.000001	D	0.91429	0.7295	M	0.73598	2.24	0.46927	D	0.999254	D;D;D	0.71674	0.998;0.974;0.974	D;D;P	0.80764	0.994;0.91;0.876	D	0.92464	0.5980	10	0.72032	D	0.01	.	14.2166	0.65797	0.0:0.0:0.0:1.0	.	133;167;133	Q6PCC5;Q8IW23;Q14957	.;.;NMDE3_HUMAN	E	133;167	ENSP00000293190:K133E	ENSP00000293190:K133E	K	-	1	0	GRIN2C	70362430	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	7.793000	0.85851	1.947000	0.56498	0.528000	0.53228	AAG	GRIN2C	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000161509		0.622	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	-	0.00	60	0	T			72850835	-1	tier1	-	no_errors	ENST00000293190	ensembl	human	known	74_37	missense	8.77	52	5	SNP	1.000	C
GRIN3A	116443	genome.wustl.edu	37	9	104390676	104390676	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:104390676T>C	ENST00000361820.3	-	4	2960	c.2360A>G	c.(2359-2361)cAt>cGt	p.H787R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	787					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTGGGAAGGATGATGTAACTA	0.323																																																	0													81.0	72.0	75.0					9																	104390676		2203	4300	6503	SO:0001583	missense	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2360A>G	9.37:g.104390676T>C	ENSP00000355155:p.His787Arg		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.H787R	ENST00000361820.3	37	c.2360	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	T	8.853	0.945039	0.18356	.	.	ENSG00000198785	ENST00000361820	T	0.52057	0.68	5.85	5.85	0.93711	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	L	0.36672	1.1	0.80722	D	1	P	0.50369	0.934	P	0.54026	0.74	T	0.35301	-0.9794	10	0.07990	T	0.79	.	16.2421	0.82418	0.0:0.0:0.0:1.0	.	787	Q8TCU5	NMD3A_HUMAN	R	787	ENSP00000355155:H787R	ENSP00000355155:H787R	H	-	2	0	GRIN3A	103430497	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	7.698000	0.84413	2.234000	0.73211	0.533000	0.62120	CAT	GRIN3A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000198785		0.323	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	-	0.00	47	0	T			104390676	-1	tier1	-	no_errors	ENST00000361820	ensembl	human	known	74_37	missense	14.29	48	8	SNP	1.000	C
GRM1	2911	genome.wustl.edu	37	6	146720324	146720324	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:146720324C>A	ENST00000282753.1	+	7	2384	c.2149C>A	c.(2149-2151)Caa>Aaa	p.Q717K	GRM1_ENST00000361719.2_Missense_Mutation_p.Q717K|GRM1_ENST00000392299.2_Missense_Mutation_p.Q717K|GRM1_ENST00000355289.4_Missense_Mutation_p.Q717K|GRM1_ENST00000507907.1_Missense_Mutation_p.Q717K|GRM1_ENST00000492807.2_Missense_Mutation_p.Q717K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	717					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GATTAGTGTGCAACTAACCCT	0.507																																																	0													117.0	111.0	113.0					6																	146720324		2203	4300	6503	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2149C>A	6.37:g.146720324C>A	ENSP00000282753:p.Gln717Lys		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.Q717K	ENST00000282753.1	37	c.2149	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127168	0.77549	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95796	0.8632	M	0.86343	2.81	0.80722	D	1	D;D;D	0.69078	0.991;0.997;0.984	P;D;P	0.78314	0.885;0.991;0.729	D	0.96025	0.9012	10	0.87932	D	0	.	19.4081	0.94656	0.0:1.0:0.0:0.0	.	717;717;717	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	K	717	ENSP00000354896:Q717K;ENSP00000376119:Q717K;ENSP00000424095:Q717K;ENSP00000282753:Q717K;ENSP00000347437:Q717K;ENSP00000425599:Q717K	ENSP00000282753:Q717K	Q	+	1	0	GRM1	146762017	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.818000	0.86416	2.604000	0.88044	0.585000	0.79938	CAA	GRM1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000152822		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0.00	63	0	C	NM_000838		146720324	+1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	40.48	25	17	SNP	1.000	A
GRM2	2912	genome.wustl.edu	37	3	51749122	51749122	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:51749122C>T	ENST00000395052.3	+	4	1567	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.R445C	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	445					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGCTTTGACCGCTTTGGTGA	0.562																																																	0													154.0	124.0	134.0					3																	51749122		2203	4300	6503	SO:0001583	missense	0			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1333C>T	3.37:g.51749122C>T	ENSP00000378492:p.Arg445Cys		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.R445C	ENST00000395052.3	37	c.1333	CCDS2834.1	3	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147545	0.57151	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.88046	-2.33;-1.67	4.95	4.07	0.47477	Extracellular ligand-binding receptor (1);	0.285549	0.36167	N	0.002757	D	0.88089	0.6343	L	0.36672	1.1	0.48087	D	0.999585	D	0.61697	0.99	P	0.59595	0.86	D	0.88855	0.3322	10	0.87932	D	0	.	12.5876	0.56426	0.4284:0.5716:0.0:0.0	.	445	Q14416	GRM2_HUMAN	C	445	ENSP00000378492:R445C;ENSP00000408906:R445C	ENSP00000378492:R445C	R	+	1	0	GRM2	51724162	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.106000	0.31098	1.218000	0.43458	0.462000	0.41574	CGC	GRM2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000164082		0.562	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	-	0.00	80	0	C			51749122	+1	tier1	-	no_errors	ENST00000395052	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.997	T
GRM4	2914	genome.wustl.edu	37	6	34059793	34059793	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:34059793C>T	ENST00000538487.2	-	3	1046	c.603G>A	c.(601-603)tcG>tcA	p.S201S	GRM4_ENST00000609222.1_Silent_p.S68S|GRM4_ENST00000455714.2_Silent_p.S61S|GRM4_ENST00000374177.3_Silent_p.S132S|GRM4_ENST00000374181.4_Silent_p.S201S|GRM4_ENST00000535756.1_Silent_p.S68S|GRM4_ENST00000544773.2_Silent_p.S32S	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	201					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGTACGTGTCCGAGGGCACCA	0.632																																																	0													123.0	90.0	102.0					6																	34059793		2203	4300	6503	SO:0001819	synonymous_variant	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.603G>A	6.37:g.34059793C>T			B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.S201	ENST00000538487.2	37	c.603	CCDS4787.1	6																																																																																			GRM4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_GABA_rcpt_B	ENSG00000124493		0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0.00	24	0	C			34059793	-1	tier1	-	no_errors	ENST00000374181	ensembl	human	known	74_37	silent	28.21	28	11	SNP	1.000	T
GSDMA	284110	genome.wustl.edu	37	17	38133236	38133236	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:38133236delC	ENST00000301659.4	+	12	1381	c.1263delC	c.(1261-1263)gacfs	p.D421fs		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	421					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ATATGTGGGACCCAGACACCC	0.577																																																	0													96.0	101.0	100.0					17																	38133236		1953	4136	6089	SO:0001589	frameshift_variant	0			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1263delC	17.37:g.38133236delC	ENSP00000301659:p.Asp421fs		Q32MC5|Q86VE7|Q8N1M6	Frame_Shift_Del	DEL	pfam_Gasdermin	p.P422fs	ENST00000301659.4	37	c.1263	CCDS45669.1	17																																																																																			GSDMA	-	NULL	ENSG00000167914		0.577	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMA	HGNC	protein_coding	OTTHUMT00000446847.1		0.00	70	0	C	NM_178171		38133236	+1	tier1		no_errors	ENST00000301659	ensembl	human	known	74_37	frame_shift_del	20.29	55	14	DEL	0.997	-
GSN	2934	genome.wustl.edu	37	9	124044851	124044851	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:124044851C>T	ENST00000373823.3	+	9	896				GSN_ENST00000412819.1_Intron|GSN_ENST00000436847.1_Intron|GSN-AS1_ENST00000414544.1_RNA|GSN_ENST00000394353.2_Intron|RP11-477J21.6_ENST00000437135.1_RNA|GSN_ENST00000341272.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron			P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TTTGGTGGTCCCCAGGATGTT	0.577																																																	0																																										SO:0001627	intron_variant	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373823.3:c.-10+1011C>T	9.37:g.124044851C>T			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	SNP	-	NULL	ENST00000373823.3	37	NULL	CCDS6829.1	9																																																																																			GSN-AS1	-	-	ENSG00000235865		0.577	GSN-013	KNOWN	basic|appris_principal|CCDS	protein_coding	GSN-AS1	HGNC	protein_coding	OTTHUMT00000254323.3	-	0.00	12	0	C	NM_000177		124044851	-1	tier1	-	no_errors	ENST00000414544	ensembl	human	known	74_37	rna	25.00	15	5	SNP	0.000	T
GSX2	170825	genome.wustl.edu	37	4	54966885	54966885	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:54966885C>T	ENST00000326902.2	+	1	688	c.374C>T	c.(373-375)gCg>gTg	p.A125V	AC110298.1_ENST00000408292.1_RNA|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	125	Poly-His.				forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GTGAACCATGCGcatcatcac	0.711																																																	0													9.0	7.0	8.0					4																	54966885		1731	3217	4948	SO:0001583	missense	0				CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.374C>T	4.37:g.54966885C>T	ENSP00000319118:p.Ala125Val			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A125V	ENST00000326902.2	37	c.374	CCDS3494.1	4	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801102	0.31869	.	.	ENSG00000180613	ENST00000326902	D	0.90788	-2.73	4.1	4.1	0.47936	.	0.512237	0.20854	N	0.084473	T	0.80560	0.4646	N	0.14661	0.345	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.67059	-0.5766	10	0.31617	T	0.26	.	9.4555	0.38751	0.0:0.8975:0.0:0.1025	.	125	Q9BZM3	GSX2_HUMAN	V	125	ENSP00000319118:A125V	ENSP00000319118:A125V	A	+	2	0	GSX2	54661642	0.998000	0.40836	0.997000	0.53966	0.867000	0.49689	1.151000	0.31651	2.288000	0.76882	0.491000	0.48974	GCG	GSX2	-	NULL	ENSG00000180613		0.711	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSX2	HGNC	protein_coding	OTTHUMT00000250595.1	-	0.00	40	0	C	NM_133267		54966885	+1	tier1	-	no_errors	ENST00000326902	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.004	T
GTF2A2	2958	genome.wustl.edu	37	15	59931126	59931126	+	3'UTR	DEL	A	A	-	rs35222026		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:59931126delA	ENST00000396060.2	-	0	716				GTF2A2_ENST00000396064.3_3'UTR|GTF2A2_ENST00000396063.1_3'UTR|GTF2A2_ENST00000267869.4_5'UTR	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa						gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(2)|kidney(2)|lung(1)	5						TTTTGTCCTTAAAAAAAAGTT	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC001919	CCDS10173.1	15q21.3	2010-03-23	2002-08-29		ENSG00000140307	ENSG00000140307		"""General transcription factors"""	4647	protein-coding gene	gene with protein product		600519	"""general transcription factor IIA, 2 (12kD subunit)"""			7958899	Standard	NM_004492		Approved	TFIIA, HsT18745	uc002agg.3	P52657	OTTHUMG00000132725	ENST00000396060.2:c.*205T>-	15.37:g.59931126delA			A8MYQ7|Q6FGB5	RNA	DEL	-	NULL	ENST00000396060.2	37	NULL	CCDS10173.1	15																																																																																			GTF2A2	-	-	ENSG00000140307		0.328	GTF2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2A2	HGNC	protein_coding	OTTHUMT00000256067.2		0.00	50	0	A	NM_004492		59931126	-1	tier1		no_errors	ENST00000267869	ensembl	human	known	74_37	rna	15.38	33	6	DEL	0.976	-
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72657225	72657225	+	RNA	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:72657225G>A	ENST00000425256.1	-	0	2686									GTF2I repeat domain containing 2 pseudogene 1																		aattcattttgtcatctccca	0.502																																																	0																																												0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657225G>A				RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.502	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1		0.00	57	0	G	NR_002164		72657225	-1			no_errors	ENST00000425256	ensembl	human	known	74_37	rna	8.82	62	6	SNP	0.008	A
GTF3C1	2975	genome.wustl.edu	37	16	27549607	27549607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:27549607delC	ENST00000356183.4	-	3	517	c.502delG	c.(502-504)gatfs	p.D168fs	GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.D168fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	168					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGGTCGGGATCCCCCTCCTGG	0.592																																																	0													71.0	66.0	68.0					16																	27549607		2197	4300	6497	SO:0001589	frameshift_variant	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.502delG	16.37:g.27549607delC	ENSP00000348510:p.Asp168fs		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Del	DEL	pfam_TFIIIC_Bblock-bd	p.D168fs	ENST00000356183.4	37	c.502	CCDS32414.1	16																																																																																			GTF3C1	-	NULL	ENSG00000077235		0.592	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1		0.00	37	0	C	NM_001520		27549607	-1	tier1		no_errors	ENST00000356183	ensembl	human	known	74_37	frame_shift_del	16.67	20	4	DEL	1.000	-
GTF3C2	2976	genome.wustl.edu	37	2	27558466	27558466	+	Splice_Site	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:27558466T>C	ENST00000359541.2	-	10	2004	c.1575A>G	c.(1573-1575)ccA>ccG	p.P525P	AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000590383.1_RNA|GTF3C2_ENST00000264720.3_Splice_Site_p.P525P|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	525					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTACTCACCTGGGGGTTGCT	0.602																																																	0													21.0	20.0	21.0					2																	27558466		2164	4237	6401	SO:0001630	splice_region_variant	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1576+1A>G	2.37:g.27558466T>C			D6W557|Q16632|Q9BWI7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P525	ENST00000359541.2	37	c.1575	CCDS1749.1	2																																																																																			GTF3C2	-	superfamily_WD40_repeat_dom	ENSG00000115207		0.602	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	-	0.00	36	0	T		Silent	27558466	-1	tier1	-	no_errors	ENST00000264720	ensembl	human	known	74_37	silent	23.33	23	7	SNP	0.996	C
GTPBP2	54676	genome.wustl.edu	37	6	43588291	43588292	+	3'UTR	DEL	TA	TA	-	rs371318073|rs75208735	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:43588291_43588292delTA	ENST00000307126.5	-	0	2867_2868				GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			tatacatatgtatatatatata	0.351																																					GBM(116;405 1620 28302 32150 44768)												0																																										SO:0001624	3_prime_UTR_variant	0			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.*1060TA>-	6.37:g.43588301_43588302delTA				RNA	DEL	-	NULL	ENST00000307126.5	37	NULL	CCDS4903.1	6																																																																																			GTPBP2	-	-	ENSG00000172432		0.351	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1		0.00	32	0	TA			43588292	-1	tier1		no_errors	ENST00000476510	ensembl	human	known	74_37	rna	17.86	23	5	DEL	0.001:0.000	-
GTSE1	51512	genome.wustl.edu	37	22	46711989	46711989	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:46711989G>T	ENST00000454366.1	+	7	1324	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	352					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TCAAACATCAGCAAGTCAGGC	0.507																																					GBM(153;542 1915 12487 29016 50495)												0													41.0	47.0	45.0					22																	46711989		2202	4299	6501	SO:0001583	missense	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1112G>T	22.37:g.46711989G>T	ENSP00000415430:p.Ser371Ile		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.S371I	ENST00000454366.1	37	c.1112	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601329	0.46423	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08634	3.07	4.53	2.35	0.29111	.	0.501906	0.23234	N	0.050424	T	0.07143	0.0181	L	0.42245	1.32	0.20563	N	0.999883	B	0.32031	0.352	B	0.25291	0.059	T	0.25187	-1.0139	10	0.87932	D	0	-3.0106	8.3264	0.32160	0.0846:0.0:0.7602:0.1552	.	352	Q9NYZ3	GTSE1_HUMAN	I	371;331	ENSP00000415430:S371I	ENSP00000354634:S331I	S	+	2	0	GTSE1	45090653	0.008000	0.16893	0.009000	0.14445	0.029000	0.11900	0.971000	0.29396	0.571000	0.29365	0.650000	0.86243	AGC	GTSE1	-	NULL	ENSG00000075218		0.507	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	-	0.00	58	0	G	NM_016426		46711989	+1	tier1	-	no_errors	ENST00000454366	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.117	T
GUCY2C	2984	genome.wustl.edu	37	12	14825857	14825857	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:14825857delC	ENST00000261170.3	-	9	1256	c.1120delG	c.(1120-1122)gatfs	p.D374fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	374					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CTGTCAACATCCCCCCAGTCA	0.473																																																	0													195.0	163.0	174.0					12																	14825857		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1120delG	12.37:g.14825857delC	ENSP00000261170:p.Asp374fs		B2RMY6	Frame_Shift_Del	DEL	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.D374fs	ENST00000261170.3	37	c.1120	CCDS8664.1	12																																																																																			GUCY2C	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000070019		0.473	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1		0.00	55	0	C			14825857	-1	tier1		no_errors	ENST00000261170	ensembl	human	known	74_37	frame_shift_del	25.00	39	13	DEL	0.958	-
GUF1	60558	genome.wustl.edu	37	4	44700615	44700615	+	Frame_Shift_Del	DEL	A	A	-	rs545503516		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:44700615delA	ENST00000281543.5	+	17	2121	c.1927delA	c.(1927-1929)aaafs	p.K645fs	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGCAGAAGGGAAAAAAAAGCT	0.328																																																	0													65.0	72.0	69.0					4																	44700615		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1927delA	4.37:g.44700615delA	ENSP00000281543:p.Lys645fs			Frame_Shift_Del	DEL	pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom	p.K645fs	ENST00000281543.5	37	c.1927	CCDS3468.1	4																																																																																			GUF1	-	pfam_LepA_GTP-bd_C,tigrfam_EF-4	ENSG00000151806		0.328	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUF1	HGNC	protein_coding	OTTHUMT00000250469.3		0.00	43	0	A	NM_021927		44700615	+1	tier1		no_errors	ENST00000281543	ensembl	human	known	74_37	frame_shift_del	23.08	30	9	DEL	0.999	-
GUSB	2990	genome.wustl.edu	37	7	65439350	65439350	+	Silent	SNP	G	G	A	rs368144710		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:65439350G>A	ENST00000304895.4	-	8	1453	c.1323C>T	c.(1321-1323)ccC>ccT	p.P441P	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Silent_p.P295P|GUSB_ENST00000345660.6_Silent_p.P390P	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	441					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TCACGACCGCGGGGTGGTTCT	0.582																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	135.0	122.0	126.0		1323	-9.6	0.0	7		126	0,8600		0,0,4300	no	coding-synonymous	GUSB	NM_000181.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		441/652	65439350	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1323C>T	7.37:g.65439350G>A			B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.P441	ENST00000304895.4	37	c.1323	CCDS5530.1	7																																																																																			GUSB	-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2	ENSG00000169919		0.582	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	-	0.00	56	0	G	NM_000181		65439350	-1	tier1	-	no_errors	ENST00000304895	ensembl	human	known	74_37	silent	21.95	32	9	SNP	0.044	A
GYLTL1B	120071	genome.wustl.edu	37	11	45948373	45948373	+	Frame_Shift_Del	DEL	C	C	-	rs376236828		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:45948373delC	ENST00000531526.1	+	10	1387	c.1276delC	c.(1276-1278)cccfs	p.P427fs	GYLTL1B_ENST00000389968.3_Frame_Shift_Del_p.P154fs|GYLTL1B_ENST00000401752.1_Frame_Shift_Del_p.P427fs|GYLTL1B_ENST00000536139.1_Frame_Shift_Del_p.P396fs|GYLTL1B_ENST00000325468.5_Frame_Shift_Del_p.P427fs|GYLTL1B_ENST00000529052.1_Frame_Shift_Del_p.P396fs	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	427					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R428fs*68(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGAACCGCCACCCCCCCGGCC	0.647																																																	1	Insertion - Frameshift(1)	lung(1)											46.0	47.0	47.0					11																	45948373		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1276delC	11.37:g.45948373delC	ENSP00000432869:p.Pro427fs		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Frame_Shift_Del	DEL	pfam_Glyco_trans_8	p.R428fs	ENST00000531526.1	37	c.1276	CCDS31473.1	11																																																																																			GYLTL1B	-	NULL	ENSG00000165905		0.647	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GYLTL1B	HGNC	protein_coding	OTTHUMT00000392572.1		0.00	47	0	C	NM_152312		45948373	+1	tier1		no_errors	ENST00000325468	ensembl	human	known	74_37	frame_shift_del	18.33	49	11	DEL	0.023	-
CHTF8	54921	genome.wustl.edu	37	16	69152342	69152342	+	3'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:69152342C>T	ENST00000448552.2	-	0	2473				CHTF8_ENST00000523421.1_3'UTR|HAS3_ENST00000219322.3_Missense_Mutation_p.R275C|CHTF8_ENST00000518041.1_3'UTR|CHTF8_ENST00000306585.6_3'UTR	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)						cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CGTTCACCAACGCCACGTTTC	0.547																																																	0													120.0	93.0	102.0					16																	69152342		2198	4300	6498	SO:0001624	3_prime_UTR_variant	0				CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.*1986G>A	16.37:g.69152342C>T			A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	NULL	p.R275C	ENST00000448552.2	37	c.823	CCDS42185.1	16	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348146	0.24426	.	.	ENSG00000103044	ENST00000219322	T	0.50548	0.74	5.97	-4.24	0.03777	.	.	.	.	.	T	0.36663	0.0975	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38351	-0.9665	8	0.87932	D	0	.	13.8276	0.63359	0.0:0.686:0.0:0.314	.	275	O00219-2	.	C	275	ENSP00000219322:R275C	ENSP00000219322:R275C	R	+	1	0	HAS3	67709843	0.000000	0.05858	0.000000	0.03702	0.579000	0.36224	-0.702000	0.05069	-0.688000	0.05155	-0.150000	0.13652	CGC	HAS3	-	NULL	ENSG00000103044		0.547	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000376352.2	-	0.00	72	0	C	NM_017804		69152342	+1	tier1	-	no_errors	ENST00000219322	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.000	T
HAUS3	79441	genome.wustl.edu	37	4	2242634	2242634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:2242634delT	ENST00000243706.4	-	2	269	c.40delA	c.(40-42)attfs	p.I14fs	HAUS3_ENST00000506763.1_Frame_Shift_Del_p.I14fs|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Frame_Shift_Del_p.I14fs	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	14					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGATAACCAATTTTTTTTAAT	0.353																																																	0													64.0	64.0	64.0					4																	2242634		2203	4300	6503	SO:0001589	frameshift_variant	0			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.40delA	4.37:g.2242634delT	ENSP00000243706:p.Ile14fs		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Frame_Shift_Del	DEL	NULL	p.I14fs	ENST00000243706.4	37	c.40	CCDS33941.1	4																																																																																			HAUS3	-	NULL	ENSG00000214367		0.353	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS3	HGNC	protein_coding	OTTHUMT00000357446.1		0.00	44	0	T	NM_024511		2242634	-1	tier1		no_errors	ENST00000243706	ensembl	human	known	74_37	frame_shift_del	13.64	38	6	DEL	1.000	-
HCFC1	3054	genome.wustl.edu	37	X	153220903	153220903	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:153220903C>T	ENST00000310441.7	-	17	3913	c.2947G>A	c.(2947-2949)Gcc>Acc	p.A983T	HCFC1_ENST00000354233.3_Missense_Mutation_p.A914T|HCFC1_ENST00000369984.4_Missense_Mutation_p.A983T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	983					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCGGGGAGGCCAGAATGGAC	0.637																																																	0													48.0	49.0	48.0					X																	153220903		2191	4258	6449	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2947G>A	X.37:g.153220903C>T	ENSP00000309555:p.Ala983Thr		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.A983T	ENST00000310441.7	37	c.2947	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710169	0.68730	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04275	3.67;3.66;3.74	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.50333	1.59	0.53688	D	0.999977	D	0.63880	0.993	D	0.70935	0.971	T	0.00327	-1.1814	10	0.54805	T	0.06	.	16.546	0.84445	0.0:1.0:0.0:0.0	.	983	P51610	HCFC1_HUMAN	T	983;983;914	ENSP00000309555:A983T;ENSP00000359001:A983T;ENSP00000346174:A914T	ENSP00000309555:A983T	A	-	1	0	HCFC1	152874097	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	7.006000	0.76329	2.163000	0.67991	0.529000	0.55759	GCC	HCFC1	-	NULL	ENSG00000172534		0.637	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4		0.00	44	0	C	NM_005334		153220903	-1			no_errors	ENST00000310441	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T
HCFC2	29915	genome.wustl.edu	37	12	104474575	104474575	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:104474575G>A	ENST00000229330.4	+	5	838	c.734G>A	c.(733-735)cGa>cAa	p.R245Q		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	245					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCACTTCCACGAAGCCTTCAT	0.318																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													110.0	109.0	110.0					12																	104474575		2202	4300	6502	SO:0001583	missense	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.734G>A	12.37:g.104474575G>A	ENSP00000229330:p.Arg245Gln		B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R245Q	ENST00000229330.4	37	c.734	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.477473	0.96291	.	.	ENSG00000111727	ENST00000229330	T	0.71817	-0.6	5.75	4.85	0.62838	Kelch-type beta propeller (1);	0.123045	0.52532	D	0.000068	D	0.88115	0.6350	H	0.95645	3.7	0.49299	D	0.999775	D	0.89917	1.0	D	0.70227	0.968	D	0.91163	0.4962	10	0.87932	D	0	-11.8529	15.175	0.72903	0.0685:0.0:0.9315:0.0	.	245	Q9Y5Z7	HCFC2_HUMAN	Q	245	ENSP00000229330:R245Q	ENSP00000229330:R245Q	R	+	2	0	HCFC2	102998705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.388000	0.79795	2.725000	0.93324	0.655000	0.94253	CGA	HCFC2	-	pfam_Kelch_1	ENSG00000111727		0.318	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	-	0.00	82	0	G	NM_013320		104474575	+1	tier1	-	no_errors	ENST00000229330	ensembl	human	known	74_37	missense	20.25	63	16	SNP	1.000	A
HCFC2	29915	genome.wustl.edu	37	12	104495909	104495909	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:104495909C>A	ENST00000229330.4	+	14	2146	c.2042C>A	c.(2041-2043)cCt>cAt	p.P681H	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	681	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGGAGCTCCTTCTGCAGTC	0.383																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													121.0	119.0	120.0					12																	104495909		2203	4300	6503	SO:0001583	missense	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.2042C>A	12.37:g.104495909C>A	ENSP00000229330:p.Pro681His		B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P681H	ENST00000229330.4	37	c.2042	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632806	0.87660	.	.	ENSG00000111727	ENST00000229330	T	0.63744	-0.06	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	M	0.76170	2.325	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.82295	-0.0528	10	0.87932	D	0	-15.3516	19.0707	0.93134	0.0:1.0:0.0:0.0	.	681	Q9Y5Z7	HCFC2_HUMAN	H	681	ENSP00000229330:P681H	ENSP00000229330:P681H	P	+	2	0	HCFC2	103020039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.739000	0.68622	2.565000	0.86533	0.655000	0.94253	CCT	HCFC2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111727		0.383	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	-	0.00	49	0	C	NM_013320		104495909	+1	tier1	-	no_errors	ENST00000229330	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	A
HCG9	10255	genome.wustl.edu	37	6	29942912	29942912	+	lincRNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:29942912C>T	ENST00000376800.3	+	0	24									HLA complex group 9 (non-protein coding)																		ACCCTGGGAACGGGAGGCGAA	0.567																																																	0													21.0	18.0	19.0					6																	29942912		1509	2707	4216			0			AB088085		6p21.3	2012-10-16	2011-04-11		ENSG00000204625	ENSG00000204625		"""Long non-coding RNAs"""	21243	non-coding RNA	RNA, long non-coding		615797	"""HLA complex group 9"""			10727083, 10557312	Standard	NR_028032		Approved	PERB11, HCGIX, HCGIX4, HCGIX-4	uc003rth.3		OTTHUMG00000031119		6.37:g.29942912C>T				RNA	SNP	-	NULL	ENST00000376800.3	37	NULL		6																																																																																			HCG9	-	-	ENSG00000204625		0.567	HCG9-001	KNOWN	basic	lincRNA	HCG9	HGNC	lincRNA	OTTHUMT00000076199.4	-	0.00	34	0	C	NR_028032		29942912	+1	tier1	-	no_errors	ENST00000376800	ensembl	human	known	74_37	rna	31.25	22	10	SNP	0.000	T
HCN4	10021	genome.wustl.edu	37	15	73615063	73615063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:73615063delC	ENST00000261917.3	-	8	4364	c.3371delG	c.(3370-3372)ggtfs	p.G1125fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1125					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCCGCTGCCACCCCCAGCCCT	0.721																																																	0													6.0	7.0	7.0					15																	73615063		2134	4185	6319	SO:0001589	frameshift_variant	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3371delG	15.37:g.73615063delC	ENSP00000261917:p.Gly1125fs		Q9UMQ7	Frame_Shift_Del	DEL	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.G1124fs	ENST00000261917.3	37	c.3371	CCDS10248.1	15																																																																																			HCN4	-	NULL	ENSG00000138622		0.721	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2		0.00	10	0	C	NM_005477		73615063	-1	tier1		no_errors	ENST00000261917	ensembl	human	known	74_37	frame_shift_del	43.75	9	7	DEL	0.564	-
HCRTR2	3062	genome.wustl.edu	37	6	55145211	55145211	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:55145211T>C	ENST00000370862.3	+	6	1410	c.1074T>C	c.(1072-1074)gcT>gcC	p.A358A		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	358					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAATAGTGCTGCGAATCCAA	0.398																																																	0													180.0	173.0	176.0					6																	55145211		2203	4300	6503	SO:0001819	synonymous_variant	0			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1074T>C	6.37:g.55145211T>C			Q5VTM0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.A358	ENST00000370862.3	37	c.1074	CCDS4956.1	6																																																																																			HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000137252		0.398	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	-	0.00	40	0	T			55145211	+1	tier1	-	no_errors	ENST00000370862	ensembl	human	known	74_37	silent	15.19	67	12	SNP	1.000	C
HDAC11	79885	genome.wustl.edu	37	3	13546120	13546120	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:13546120T>C	ENST00000295757.3	+	10	1164	c.981T>C	c.(979-981)ccT>ccC	p.P327P	HDAC11_ENST00000402271.1_Silent_p.P248P|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000446613.2_Silent_p.P135P|HDAC11_ENST00000522202.1_Silent_p.P276P|HDAC11_ENST00000437379.2_Silent_p.P299P|HDAC11_ENST00000404040.1_Silent_p.P227P|HDAC11_ENST00000402259.1_Silent_p.P161P	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	327					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TCATTGGGCCTGAGTCACCCA	0.607																																																	0													78.0	72.0	74.0					3																	13546120		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.981T>C	3.37:g.13546120T>C			B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Silent	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse	p.P327	ENST00000295757.3	37	c.981	CCDS2615.1	3																																																																																			HDAC11	-	NULL	ENSG00000163517		0.607	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC11	HGNC	protein_coding	OTTHUMT00000252028.5		0.00	62	0	T	NM_024827		13546120	+1			no_errors	ENST00000295757	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.000	C
HDAC3	8841	genome.wustl.edu	37	5	141005623	141005623	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:141005623C>T	ENST00000305264.3	-	12	1015	c.936G>A	c.(934-936)tcG>tcA	p.S312S	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_5'UTR	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	312	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTACCAGCAGCGATGTCTCAT	0.547																																																	0													151.0	141.0	144.0					5																	141005623		2203	4300	6503	SO:0001819	synonymous_variant	0			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.936G>A	5.37:g.141005623C>T			D3DQE1|O43268|Q9UEI5|Q9UEV0	Silent	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.S312	ENST00000305264.3	37	c.936	CCDS4264.1	5																																																																																			HDAC3	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1	ENSG00000171720		0.547	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2		0.00	18	0	C	NM_003883		141005623	-1			no_errors	ENST00000305264	ensembl	human	known	74_37	silent	16.13	26	5	SNP	0.009	T
HDC	3067	genome.wustl.edu	37	15	50540459	50540459	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:50540459G>T	ENST00000267845.3	-	10	1525	c.1123C>A	c.(1123-1125)Caa>Aaa	p.Q375K	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.Q375E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		ACATGTGCTTGAAGATTCTTC	0.507																																					GBM(95;1627 1936 6910 9570)												2	Substitution - Missense(2)	lung(2)											86.0	76.0	80.0					15																	50540459		2196	4295	6491	SO:0001583	missense	0				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1123C>A	15.37:g.50540459G>T	ENSP00000267845:p.Gln375Lys			Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.Q375K	ENST00000267845.3	37	c.1123	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.074431	0.94000	.	.	ENSG00000140287	ENST00000267845	T	0.38240	1.15	5.35	5.35	0.76521	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.053230	0.85682	N	0.000000	T	0.60715	0.2290	M	0.70842	2.15	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.64292	-0.6442	10	0.87932	D	0	-13.7062	19.1263	0.93386	0.0:0.0:1.0:0.0	.	375	P19113	DCHS_HUMAN	K	375	ENSP00000267845:Q375K	ENSP00000267845:Q375K	Q	-	1	0	HDC	48327751	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.509000	0.98002	2.510000	0.84645	0.558000	0.71614	CAA	HDC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	ENSG00000140287		0.507	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	HGNC	protein_coding	OTTHUMT00000254540.1		0.00	21	0	G			50540459	-1			no_errors	ENST00000267845	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T
HDLBP	3069	genome.wustl.edu	37	2	242195709	242195709	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:242195709G>A	ENST00000391975.1	-	7	990	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	HDLBP_ENST00000391976.2_Missense_Mutation_p.R255C|HDLBP_ENST00000310931.4_Missense_Mutation_p.R255C|HDLBP_ENST00000427183.2_Missense_Mutation_p.R291C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	255	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.R255C(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATGTTGATGCGCGTGCCTGTC	0.537																																																	1	Substitution - Missense(1)	endometrium(1)											129.0	107.0	115.0					2																	242195709		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.763C>T	2.37:g.242195709G>A	ENSP00000375836:p.Arg255Cys		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R255C	ENST00000391975.1	37	c.763	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.409442|3.409442	0.62399|0.62399	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.33654	.|1.4;1.4;1.4;1.4	5.74|5.74	3.68|3.68	0.42216|0.42216	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61476|0.61476	0.2350|0.2350	M|M	0.84683|0.84683	2.71|2.71	0.41359|0.41359	D|D	0.987411|0.987411	.|D;D;D	.|0.89917	.|1.0;0.995;1.0	.|D;P;D	.|0.83275	.|0.996;0.82;0.996	T|T	0.68481|0.68481	-0.5397|-0.5397	5|10	.|0.87932	.|D	.|0	-20.5591|-20.5591	11.4284|11.4284	0.50025|0.50025	0.0:0.1053:0.661:0.2337|0.0:0.1053:0.661:0.2337	.|.	.|255;291;255	.|B2R5V9;E7EM71;Q00341	.|.;.;VIGLN_HUMAN	V|C	132|255;255;255;291	.|ENSP00000375836:R255C;ENSP00000375837:R255C;ENSP00000312042:R255C;ENSP00000399139:R291C	.|ENSP00000312042:R255C	A|R	-|-	2|1	0|0	HDLBP|HDLBP	241844382|241844382	1.000000|1.000000	0.71417|0.71417	0.888000|0.888000	0.34837|0.34837	0.415000|0.415000	0.31203|0.31203	4.559000|4.559000	0.60796|0.60796	1.556000|1.556000	0.49512|0.49512	0.563000|0.563000	0.77884|0.77884	GCG|CGC	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.537	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0.00	53	0	G	NM_203346		242195709	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	10.64	42	5	SNP	0.966	A
HDX	139324	genome.wustl.edu	37	X	83616578	83616578	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:83616578G>T	ENST00000297977.5	-	5	1459	c.1348C>A	c.(1348-1350)Ctt>Att	p.L450I	HDX_ENST00000373177.2_Missense_Mutation_p.L450I|HDX_ENST00000506585.2_Missense_Mutation_p.L392I	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	450						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TACTTCTTAAGGGTGGCTAAG	0.378																																					Pancreas(53;231 1169 36156 43751 51139)												0													64.0	50.0	55.0					X																	83616578		2203	4300	6503	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1348C>A	X.37:g.83616578G>T	ENSP00000297977:p.Leu450Ile		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L450I	ENST00000297977.5	37	c.1348	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914710	0.92178	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	D;D;D	0.99567	-6.18;-6.18;-6.18	5.35	5.35	0.76521	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98953	1.0795	10	0.87932	D	0	-17.2547	18.1973	0.89826	0.0:0.0:1.0:0.0	.	450	Q7Z353	HDX_HUMAN	I	450;392;450	ENSP00000297977:L450I;ENSP00000362272:L392I;ENSP00000423670:L450I	ENSP00000297977:L450I	L	-	1	0	HDX	83503234	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	7.801000	0.85960	2.235000	0.73313	0.544000	0.68410	CTT	HDX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000165259		0.378	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	-	0.00	78	0	G	NM_144657		83616578	-1	tier1	-	no_errors	ENST00000297977	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	T
HEATR2	54919	genome.wustl.edu	37	7	769437	769437	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:769437G>A	ENST00000297440.6	+	2	753	c.733G>A	c.(733-735)Gac>Aac	p.D245N	PRKAR1B_ENST00000403562.1_5'Flank|PRKAR1B_ENST00000537384.1_5'Flank|HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Missense_Mutation_p.D245N|PRKAR1B_ENST00000488474.1_5'Flank	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	245						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GTCCGTGGACGACGTGCTTTC	0.572																																																	0													148.0	121.0	130.0					7																	769437		2203	4300	6503	SO:0001583	missense	0			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.733G>A	7.37:g.769437G>A	ENSP00000297440:p.Asp245Asn		Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D245N	ENST00000297440.6	37	c.733	CCDS34580.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.059682|5.059682	0.93846|0.93846	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000297440;ENST00000313147|ENST00000440747	T;T|.	0.18338|.	2.22;2.22|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73560|0.73560	0.3602|0.3602	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D|.	0.60160|.	0.987|.	B|.	0.42882|.	0.401|.	T|T	0.72077|0.72077	-0.4399|-0.4399	10|5	0.44086|.	T|.	0.13|.	-31.0429|-31.0429	18.7191|18.7191	0.91686|0.91686	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	245|.	Q86Y56|.	HEAT2_HUMAN|.	N|Q	245|46	ENSP00000297440:D245N;ENSP00000321451:D245N|.	ENSP00000297440:D245N|.	D|R	+|+	1|2	0|0	HEATR2|HEATR2	735963|735963	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.739000|0.739000	0.42172|0.42172	8.852000|8.852000	0.92215|0.92215	2.420000|2.420000	0.82092|0.82092	0.655000|0.655000	0.94253|0.94253	GAC|CGA	HEATR2	-	superfamily_ARM-type_fold	ENSG00000164818		0.572	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR2	HGNC	protein_coding	OTTHUMT00000322542.1		0.00	71	0	G	NM_017802		769437	+1			no_errors	ENST00000297440	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A
HECW1	23072	genome.wustl.edu	37	7	43484922	43484922	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:43484922G>A	ENST00000395891.2	+	11	2756	c.2151G>A	c.(2149-2151)acG>acA	p.T717T	HECW1_ENST00000453890.1_Silent_p.T717T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	717					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						CCAGCCACACGCGCTTCTCCT	0.632																																																	0													53.0	58.0	56.0					7																	43484922		2144	4250	6394	SO:0001819	synonymous_variant	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2151G>A	7.37:g.43484922G>A			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.T717	ENST00000395891.2	37	c.2151	CCDS5469.2	7																																																																																			HECW1	-	NULL	ENSG00000002746		0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	-	0.00	35	0	G	NM_015052		43484922	+1	tier1	-	no_errors	ENST00000395891	ensembl	human	known	74_37	silent	31.43	24	11	SNP	0.986	A
HELQ	113510	genome.wustl.edu	37	4	84374915	84374915	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:84374915T>C	ENST00000295488.3	-	2	643	c.481A>G	c.(481-483)Acc>Gcc	p.T161A	MRPS18C_ENST00000295491.4_5'Flank|HELQ_ENST00000440639.2_5'UTR|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.T161A|MRPS18C_ENST00000507019.1_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	161					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TTGCCTATGGTAGTAATGCTG	0.378								Other identified genes with known or suspected DNA repair function																																									0													225.0	218.0	220.0					4																	84374915		2203	4300	6503	SO:0001583	missense	0			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.481A>G	4.37:g.84374915T>C	ENSP00000295488:p.Thr161Ala		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T161A	ENST00000295488.3	37	c.481	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	T	10.74	1.436282	0.25813	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.65364	0.14;-0.15	5.23	-5.34	0.02705	.	1.064380	0.07263	N	0.867787	T	0.42810	0.1219	L	0.38531	1.155	0.09310	N	1	B;B;B;B	0.12013	0.001;0.004;0.005;0.001	B;B;B;B	0.09377	0.001;0.003;0.004;0.001	T	0.37454	-0.9705	10	0.08179	T	0.78	-36.6236	8.3199	0.32124	0.0:0.41:0.3862:0.2038	.	161;161;124;161	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	A	161	ENSP00000295488:T161A;ENSP00000424539:T161A	ENSP00000295488:T161A	T	-	1	0	HELQ	84593939	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.665000	0.00848	-1.186000	0.02713	-1.094000	0.02160	ACC	HELQ	-	NULL	ENSG00000163312		0.378	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	-	0.00	57	0	T	NM_133636		84374915	-1	tier1	-	no_errors	ENST00000295488	ensembl	human	known	74_37	missense	11.83	82	11	SNP	0.000	C
HELZ2	85441	genome.wustl.edu	37	20	62194213	62194213	+	Missense_Mutation	SNP	G	G	A	rs200554251	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:62194213G>A	ENST00000467148.1	-	8	6031	c.5962C>T	c.(5962-5964)Cgc>Tgc	p.R1988C	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1419C	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1988					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCTCCAGGCGGAAGGCGCCC	0.677																																																	0													12.0	14.0	13.0					20																	62194213		2162	4243	6405	SO:0001583	missense	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5962C>T	20.37:g.62194213G>A	ENSP00000417401:p.Arg1988Cys		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R1988C	ENST00000467148.1	37	c.5962	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	6.077	0.382462	0.11524	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79352	-1.26;-1.16	4.58	-8.2	0.01045	.	2.110390	0.01242	N	0.008638	T	0.43033	0.1229	N	0.00677	-1.265	0.24112	N	0.995831	B;B	0.14438	0.01;0.0	B;B	0.08055	0.003;0.001	T	0.48937	-0.8990	10	0.37606	T	0.19	-9.288	5.8637	0.18762	0.2785:0.0:0.4331:0.2884	.	1988;1419	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	C	1419;1988	ENSP00000393257:R1419C;ENSP00000417401:R1988C	ENSP00000393257:R1419C	R	-	1	0	RP4-697K14.7	61664657	0.000000	0.05858	0.033000	0.17914	0.020000	0.10135	-1.021000	0.03615	-1.791000	0.01261	-0.424000	0.05967	CGC	HELZ2	-	NULL	ENSG00000130589		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0.00	34	0	G	NM_001037335		62194213	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.003	A
HERC2P2	400322	genome.wustl.edu	37	15	23330372	23330372	+	RNA	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:23330372A>G	ENST00000560464.1	-	0	1257									hect domain and RLD 2 pseudogene 2																		ATGCCACATGACCTGTAAAAA	0.403																																																	0																																												0			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23330372A>G				RNA	SNP	-	NULL	ENST00000560464.1	37	NULL		15																																																																																			HERC2P2	-	-	ENSG00000140181		0.403	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	HGNC	pseudogene	OTTHUMT00000415936.1	-	0.00	184	0	A			23330372	-1	tier1	-	no_errors	ENST00000560464	ensembl	human	known	74_37	rna	19.58	152	37	SNP	0.998	G
HERC4	26091	genome.wustl.edu	37	10	69716603	69716604	+	Intron	DEL	AA	AA	-	rs78135151		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:69716603_69716604delAA	ENST00000395198.3	-	18	2297				HERC4_ENST00000373700.4_Intron|HERC4_ENST00000395187.2_Intron|HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000277817.6_Intron|HERC4_ENST00000412272.2_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4						cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGAAACAATTAAAAAAAAAAAC	0.327																																																	0									,	38,21,550,3653		0,0,1,37,2,0,17,4,541,1529					,	-2.0	0.0			43	47,35,813,7353		0,0,0,47,3,0,29,1,811,3233	no	intron,intron	HERC4	NM_022079.2,NM_015601.3	,	0,0,1,84,5,0,46,5,1352,4762	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		10.8511,14.2891,12.0224	,	,		85,56,1363,11006				SO:0001627	intron_variant	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2049+30TT>-	10.37:g.69716611_69716612delAA			Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	RNA	DEL	-	NULL	ENST00000395198.3	37	NULL	CCDS41533.1	10																																																																																			HERC4	-	-	ENSG00000148634		0.327	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1		0.00	33	0	AA	NM_015601		69716604	-1	tier1		no_errors	ENST00000480158	ensembl	human	known	74_37	rna	13.16	33	5	DEL	0.000:0.000	-
HEY1	23462	genome.wustl.edu	37	8	80677294	80677294	+	3'UTR	DEL	A	A	-	rs566234010		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:80677294delA	ENST00000354724.3	-	0	1243				HEY1_ENST00000523976.1_3'UTR|HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000337919.5_3'UTR	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1						angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			TTTAGTCTTTAAAAAAAAAAT	0.289			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	0																																										SO:0001624	3_prime_UTR_variant	0			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.*129T>-	8.37:g.80677294delA		1200	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	RNA	DEL	-	NULL	ENST00000354724.3	37	NULL	CCDS6225.1	8																																																																																			HEY1	-	-	ENSG00000164683		0.289	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HEY1	HGNC	protein_coding	OTTHUMT00000379516.1		0.00	10	0	A	NM_012258		80677294	-1	tier1		no_errors	ENST00000435063	ensembl	human	known	74_37	rna	62.50	3	5	DEL	0.976	-
HEYL	26508	genome.wustl.edu	37	1	40092236	40092236	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:40092236C>T	ENST00000372852.3	-	5	1249	c.930G>A	c.(928-930)gcG>gcA	p.A310A	HEYL_ENST00000535435.1_Silent_p.A282A	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	310					atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCATGGCTCCCGCTGGCCTCC	0.612																																																	0													10.0	8.0	9.0					1																	40092236		2171	4249	6420	SO:0001819	synonymous_variant	0			BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"""Basic helix-loop-helix proteins"""	4882	protein-coding gene	gene with protein product	"""hairy/enhancer-of-split related with YRPW motif 3"""	609034	"""hairy/enhancer-of-split related with YRPW motif-like"""			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.930G>A	1.37:g.40092236C>T			Q5TG99	Silent	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.A310	ENST00000372852.3	37	c.930	CCDS439.1	1																																																																																			HEYL	-	NULL	ENSG00000163909		0.612	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEYL	HGNC	protein_coding	OTTHUMT00000001179.2	-	0.00	82	0	C	NM_014571		40092236	-1	tier1	-	no_errors	ENST00000372852	ensembl	human	known	74_37	silent	26.92	57	21	SNP	0.000	T
HFM1	164045	genome.wustl.edu	37	1	91794442	91794442	+	Intron	SNP	G	G	T	rs572141432		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:91794442G>T	ENST00000370425.3	-	21	2434				HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_Intron|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)						resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCCTGGTGAAGGCTGGCAAAG	0.557																																																	0																																										SO:0001627	intron_variant	0			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2336-4119C>A	1.37:g.91794442G>T			B1B0B6|Q8N9Q0	RNA	SNP	-	NULL	ENST00000370425.3	37	NULL	CCDS30769.2	1																																																																																			HFM1	-	-	ENSG00000162669		0.557	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	-	0.00	10	0	G	NM_001017975		91794442	-1	tier1	-	no_errors	ENST00000497520	ensembl	human	known	74_37	rna	35.29	11	6	SNP	1.000	T
HHIPL1	84439	genome.wustl.edu	37	14	100118894	100118894	+	Missense_Mutation	SNP	G	G	A	rs145984890		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:100118894G>A	ENST00000330710.5	+	2	687	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V197M	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	197					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCGCAACCCCGTGGCCATGGT	0.667																																																	0								G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	57.0	49.0	52.0		589,589	4.8	1.0	14	dbSNP_134	52	0,8598		0,0,4299	no	missense,missense	HHIPL1	NM_001127258.1,NM_032425.4	21,21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	197/783,197/609	100118894	1,13003	2203	4299	6502	SO:0001583	missense	0			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.589G>A	14.37:g.100118894G>A	ENSP00000330601:p.Val197Met		A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	pfam_SRCR,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.V197M	ENST00000330710.5	37	c.589	CCDS45162.1	14	.	.	.	.	.	.	.	.	.	.	g	18.70	3.680206	0.68042	2.27E-4	0.0	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.13901	2.55;2.55	4.83	4.83	0.62350	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.167322	0.37304	N	0.002144	T	0.33469	0.0864	L	0.52759	1.655	0.38896	D	0.957225	D;D	0.89917	1.0;0.995	D;P	0.79784	0.993;0.898	T	0.16247	-1.0409	10	0.87932	D	0	.	17.9404	0.89025	0.0:0.0:1.0:0.0	.	197;197	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	M	197	ENSP00000330601:V197M;ENSP00000349757:V197M	ENSP00000330601:V197M	V	+	1	0	HHIPL1	99188647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.263000	0.65507	2.207000	0.71202	0.655000	0.94253	GTG	HHIPL1	-	superfamily_Quinoprot_gluc/sorb_DH	ENSG00000182218		0.667	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	HGNC	protein_coding	OTTHUMT00000413811.1	-	0.00	49	0	G	XM_041566		100118894	+1	tier1	rs145984890	no_errors	ENST00000330710	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	A
HIATL1	84641	genome.wustl.edu	37	9	97203357	97203357	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:97203357C>T	ENST00000375344.3	+	5	755	c.486C>T	c.(484-486)caC>caT	p.H162H	HIATL1_ENST00000428393.2_Silent_p.H97H	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	162					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CTCAGGAGCACGAGCGAAGTA	0.353																																					Pancreas(77;1260 1915 1973 10423)												0													118.0	111.0	114.0					9																	97203357		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.486C>T	9.37:g.97203357C>T			B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.H162	ENST00000375344.3	37	c.486	CCDS6710.2	9																																																																																			HIATL1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000148110		0.353	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIATL1	HGNC	protein_coding	OTTHUMT00000053184.1	-	0.00	60	0	C	NM_032558		97203357	+1	tier1	-	no_errors	ENST00000375344	ensembl	human	known	74_37	silent	31.58	39	18	SNP	0.524	T
HIPK3	10114	genome.wustl.edu	37	11	33308839	33308839	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:33308839C>A	ENST00000303296.4	+	2	1184	c.879C>A	c.(877-879)ccC>ccA	p.P293P	HIPK3_ENST00000456517.1_Silent_p.P293P|HIPK3_ENST00000525975.1_Silent_p.P293P|HIPK3_ENST00000379016.3_Silent_p.P293P	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AATTTAGTCCCCTGCCACTAA	0.388																																																	0													80.0	86.0	84.0					11																	33308839		2202	4298	6500	SO:0001819	synonymous_variant	0			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.879C>A	11.37:g.33308839C>A			O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P293	ENST00000303296.4	37	c.879	CCDS7884.1	11																																																																																			HIPK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000110422		0.388	HIPK3-001	KNOWN	basic|CCDS	protein_coding	HIPK3	HGNC	protein_coding	OTTHUMT00000255358.1	-	0.00	32	0	C	NM_005734		33308839	+1	tier1	-	no_errors	ENST00000303296	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.930	A
HJURP	55355	genome.wustl.edu	37	2	234750242	234750242	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:234750242G>A	ENST00000411486.2	-	8	1249	c.1184C>T	c.(1183-1185)aCa>aTa	p.T395I	HJURP_ENST00000441687.1_Missense_Mutation_p.T310I|HJURP_ENST00000432087.1_Missense_Mutation_p.T341I|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	395					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AAGATTATATGTTGCACTGGA	0.398																																																	0													77.0	80.0	79.0					2																	234750242		2203	4300	6503	SO:0001583	missense	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1184C>T	2.37:g.234750242G>A	ENSP00000414109:p.Thr395Ile		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.T395I	ENST00000411486.2	37	c.1184	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	G	1.166	-0.642405	0.03531	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.10288	3.2;3.2;3.2;2.89	3.34	-4.67	0.03319	.	2.914990	0.01076	N	0.004917	T	0.05777	0.0151	N	0.25647	0.755	0.09310	N	1	B;B;B	0.29552	0.248;0.103;0.16	B;B;B	0.19148	0.024;0.024;0.018	T	0.27839	-1.0062	10	0.08381	T	0.77	0.1369	5.3147	0.15849	0.3015:0.3914:0.3071:0.0	.	310;341;395	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	I	395;341;310;310	ENSP00000414109:T395I;ENSP00000407208:T341I;ENSP00000401944:T310I;ENSP00000393253:T310I	ENSP00000414109:T395I	T	-	2	0	HJURP	234414981	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.300000	0.02751	-0.932000	0.03742	-0.136000	0.14681	ACA	HJURP	-	NULL	ENSG00000123485		0.398	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	HGNC	protein_coding	OTTHUMT00000130996.6	-	0.00	35	0	G	NM_018410		234750242	-1	tier1	-	no_errors	ENST00000411486	ensembl	human	known	74_37	missense	17.50	33	7	SNP	0.000	A
HLA-C	3107	genome.wustl.edu	37	6	31239045	31239045	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31239045A>G	ENST00000376228.5	-	3	438	c.424T>C	c.(424-426)Tac>Cac	p.Y142H	HLA-C_ENST00000383329.3_Missense_Mutation_p.Y142H	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	142	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TTGCCGTCGTAGGCGGACTGG	0.711																																																	0													36.0	28.0	30.0					6																	31239045		2185	4254	6439	SO:0001583	missense	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.424T>C	6.37:g.31239045A>G	ENSP00000365402:p.Tyr142His		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.Y142H	ENST00000376228.5	37	c.424	CCDS34393.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.24|14.24	2.476086|2.476086	0.44044|0.44044	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00272	.|8.36;8.36	2.59|2.59	2.59|2.59	0.31030|0.31030	.|MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.254509	.|0.20143	.|U	.|0.098339	T|T	0.00967|0.00967	0.0032|0.0032	H|H	0.99999|0.99999	5.605|5.605	0.27640|0.27640	N|N	0.94776|0.94776	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	T|T	0.53443|0.53443	-0.8438|-0.8438	5|10	.|0.87932	.|D	.|0	.|.	8.9691|8.9691	0.35894|0.35894	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|142;142;142;142	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	P|H	141|142;142;142;179	.|ENSP00000365402:Y142H;ENSP00000372819:Y142H	.|ENSP00000365402:Y142H	L|Y	-|-	2|1	0|0	HLA-C|HLA-C	31347024|31347024	0.133000|0.133000	0.22466|0.22466	0.014000|0.014000	0.15608|0.15608	0.036000|0.036000	0.12997|0.12997	2.874000|2.874000	0.48483|0.48483	1.442000|1.442000	0.47568|0.47568	0.254000|0.254000	0.18369|0.18369	CTA|TAC	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a	ENSG00000204525		0.711	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	-	0.00	78	0	A	NM_002117		31239045	-1	tier1	-	no_errors	ENST00000383329	ensembl	human	known	74_37	missense	16.98	44	9	SNP	0.882	G
HLA-C	3107	genome.wustl.edu	37	6	31239628	31239628	+	Missense_Mutation	SNP	A	A	G	rs281860324		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31239628A>G	ENST00000376228.5	-	2	105	c.91T>C	c.(91-93)Tat>Cat	p.Y31H	HLA-C_ENST00000383329.3_Missense_Mutation_p.Y31H	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	31	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTGTCGAAATACCTCATGGAG	0.731																																																	0													16.0	17.0	16.0					6																	31239628		1485	2688	4173	SO:0001583	missense	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.91T>C	6.37:g.31239628A>G	ENSP00000365402:p.Tyr31His		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.Y31H	ENST00000376228.5	37	c.91	CCDS34393.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	12.66|12.66	2.006090|2.006090	0.35415|0.35415	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.01838	.|4.61;4.61	2.38|2.38	2.38|2.38	0.29361|0.29361	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.271696	.|0.19196	.|U	.|0.120318	T|T	0.16685|0.16685	0.0401|0.0401	H|H	0.99985|0.99985	5.245|5.245	0.21290|0.21290	N|N	0.999735|0.999735	.|D;D;D;D	.|0.89917	.|0.999;0.999;0.999;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.999;0.999;1.0	T|T	0.41770|0.41770	-0.9490|-0.9490	5|10	.|0.87932	.|D	.|0	.|.	6.6836|6.6836	0.23132|0.23132	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|31;31;31;31	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	A|H	30|31;31;31;68	.|ENSP00000365402:Y31H;ENSP00000372819:Y31H	.|ENSP00000365402:Y31H	V|Y	-|-	2|1	0|0	HLA-C|HLA-C	31347607|31347607	0.009000|0.009000	0.17119|0.17119	0.511000|0.511000	0.27724|0.27724	0.030000|0.030000	0.12068|0.12068	1.211000|1.211000	0.32382|0.32382	1.345000|1.345000	0.45676|0.45676	0.254000|0.254000	0.18369|0.18369	GTA|TAT	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000204525		0.731	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	-	0.00	89	0	A	NM_002117		31239628	-1	tier1	-	no_errors	ENST00000383329	ensembl	human	known	74_37	missense	13.83	81	13	SNP	0.622	G
HMCN1	83872	genome.wustl.edu	37	1	185891603	185891604	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:185891603_185891604insA	ENST00000271588.4	+	7	1222_1223	c.993_994insA	c.(994-996)aaafs	p.K332fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.K332fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	332					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCTGGACTTCAAAAAAACAGT	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1000dupA	1.37:g.185891610_185891610dupA	ENSP00000271588:p.Lys332fs		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.T333fs	ENST00000271588.4	37	c.993_994	CCDS30956.1	1																																																																																			HMCN1	-	NULL	ENSG00000143341		0.391	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0.00	61	0	-	NM_031935		185891604	+1	tier1		no_errors	ENST00000271588	ensembl	human	known	74_37	frame_shift_ins	19.57	37	9	INS	1.000:1.000	A
HMCN1	83872	genome.wustl.edu	37	1	185951461	185951461	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:185951461C>A	ENST00000271588.4	+	18	2959	c.2730C>A	c.(2728-2730)ccC>ccA	p.P910P	HMCN1_ENST00000367492.2_Silent_p.P910P|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	910	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTACTTTGCCCTGTACTCTGT	0.418																																																	0													166.0	158.0	161.0					1																	185951461		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2730C>A	1.37:g.185951461C>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.P910	ENST00000271588.4	37	c.2730	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	69	0	C	NM_031935		185951461	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	16.09	73	14	SNP	0.998	A
HMGB1P5	10354	genome.wustl.edu	37	3	22424293	22424293	+	RNA	SNP	C	C	G	rs141464414	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:22424293C>G	ENST00000451497.1	+	0	858									high mobility group box 1 pseudogene 5																		GCAGCTTATACGAAATAATTG	0.333																																																	0																																												0			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424293C>G				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-	ENSG00000132967		0.333	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1		0.00	16	0	C	NG_000897		22424293	+1			no_errors	ENST00000451497	ensembl	human	known	74_37	rna	12.00	22	3	SNP	0.996	G
HMGB3	3149	genome.wustl.edu	37	X	150155677	150155677	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:150155677G>A	ENST00000325307.7	+	4	463	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	HMGB3_ENST00000448905.2_Missense_Mutation_p.V123M	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	123					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TATTGGAGACGTGGCAAAAAA	0.433																																																	0													42.0	42.0	42.0					X																	150155677		2202	4295	6497	SO:0001583	missense	0			AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.367G>A	X.37:g.150155677G>A	ENSP00000359393:p.Val123Met		O95556|Q6NS40	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.V123M	ENST00000325307.7	37	c.367	CCDS35428.1	X	.	.	.	.	.	.	.	.	.	.	g	18.57	3.652076	0.67472	.	.	ENSG00000029993	ENST00000419110;ENST00000325307;ENST00000455596;ENST00000448905;ENST00000430118	D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98	4.95	4.95	0.65309	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000002	D	0.98488	0.9496	M	0.88906	2.99	0.45995	D	0.9988	D	0.62365	0.991	P	0.50314	0.637	D	0.99338	1.0911	10	0.72032	D	0.01	.	16.2551	0.82510	0.0:0.0:1.0:0.0	.	123	O15347	HMGB3_HUMAN	M	123	ENSP00000410354:V123M;ENSP00000359393:V123M;ENSP00000405601:V123M;ENSP00000442758:V123M;ENSP00000417027:V123M	ENSP00000359393:V123M	V	+	1	0	HMGB3	149906335	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	4.654000	0.61469	2.033000	0.60031	0.529000	0.55759	GTG	HMGB3	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000029993		0.433	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HMGB3	HGNC	protein_coding	OTTHUMT00000060867.1	-	0.00	84	0	G	NM_005342		150155677	+1	tier1	-	no_errors	ENST00000325307	ensembl	human	known	74_37	missense	55.26	17	21	SNP	0.998	A
HMGN3	9324	genome.wustl.edu	37	6	79912054	79912054	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:79912054T>C	ENST00000344726.5	-	5	328	c.200A>G	c.(199-201)aAg>aGg	p.K67R	HMGN3_ENST00000275036.7_Missense_Mutation_p.K67R	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	67					chromatin modification (GO:0016568)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|thyroid hormone receptor binding (GO:0046966)			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		AGCTTCCTGCTTTTCCTCCTT	0.433																																																	0													247.0	228.0	235.0					6																	79912054		2203	4300	6503	SO:0001583	missense	0			L40357	CCDS4988.1, CCDS4989.1, CCDS75485.1	6q14.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000118418	ENSG00000118418		"""High-mobility group / Canonical"""	12312	protein-coding gene	gene with protein product		604502	"""thyroid hormone receptor interactor 7"""	TRIP7		7776974, 11356838	Standard	NM_004242		Approved		uc021zbz.1	Q15651	OTTHUMG00000015073	ENST00000344726.5:c.200A>G	6.37:g.79912054T>C	ENSP00000341267:p.Lys67Arg		B2RD37|Q5HYD3|Q7RTT0|Q969M5|Q9BZT7	Missense_Mutation	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.K67R	ENST00000344726.5	37	c.200	CCDS4988.1	6	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604148	0.46423	.	.	ENSG00000118418	ENST00000344726;ENST00000275036	.	.	.	5.36	5.36	0.76844	.	0.160627	0.56097	D	0.000036	T	0.41789	0.1174	.	.	.	0.44323	D	0.997204	P;P	0.41784	0.762;0.59	B;B	0.42245	0.381;0.263	T	0.37384	-0.9708	7	.	.	.	.	14.6915	0.69091	0.0:0.0:0.0:1.0	.	67;67	Q15651;Q15651-2	HMGN3_HUMAN;.	R	67	.	.	K	-	2	0	HMGN3	79968773	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.864000	0.48404	2.251000	0.74343	0.533000	0.62120	AAG	HMGN3	-	pfam_HMGN_fam,smart_HMGN_fam	ENSG00000118418		0.433	HMGN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN3	HGNC	protein_coding	OTTHUMT00000041300.1	-	0.00	51	0	T	NM_004242		79912054	-1	tier1	-	no_errors	ENST00000344726	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	C
HMHA1	23526	genome.wustl.edu	37	19	1073742	1073742	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:1073742C>T	ENST00000313093.2	+	5	951	c.720C>T	c.(718-720)agC>agT	p.S240S	HMHA1_ENST00000586866.1_Silent_p.S244S|HMHA1_ENST00000536472.1_Silent_p.S80S|HMHA1_ENST00000590214.1_Silent_p.S267S|HMHA1_ENST00000543365.1_Silent_p.S123S|HMHA1_ENST00000539243.2_Silent_p.S256S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	240					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACTCGAGCCAGGTGAGTG	0.652																																																	0													30.0	30.0	30.0					19																	1073742		2197	4298	6495	SO:0001819	synonymous_variant	0			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.720C>T	19.37:g.1073742C>T			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.S240	ENST00000313093.2	37	c.720	CCDS32863.1	19																																																																																			HMHA1	-	NULL	ENSG00000180448		0.652	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	-	0.00	87	0	C			1073742	+1	tier1	-	no_errors	ENST00000313093	ensembl	human	known	74_37	silent	29.89	61	26	SNP	1.000	T
HNF1A	6927	genome.wustl.edu	37	12	121432118	121432118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:121432118delC	ENST00000257555.6	+	4	1091	c.865delC	c.(865-867)cccfs	p.P291fs	HNF1A_ENST00000541395.1_Frame_Shift_Del_p.P291fs|HNF1A_ENST00000543427.1_Frame_Shift_Del_p.P174fs|HNF1A_ENST00000544413.1_Frame_Shift_Del_p.P291fs|HNF1A_ENST00000402929.1_Frame_Shift_Del_p.P291fs|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Frame_Shift_Del_p.P291fs			P20823	HNF1A_HUMAN	HNF1 homeobox A	291					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTACAGCGGGCCCCCCCCAGG	0.662									Hepatic Adenoma, Familial Clustering of																																								0			GRCh37	CM082856	HNF1A	M							24.0	24.0	24.0					12																	121432118		2203	4299	6502	SO:0001589	frameshift_variant	0	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.865delC	12.37:g.121432118delC	ENSP00000257555:p.Pro291fs		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Frame_Shift_Del	DEL	pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P291fs	ENST00000257555.6	37	c.865	CCDS9209.1	12																																																																																			HNF1A	-	pfam_HNF1b_C	ENSG00000135100		0.662	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1A	HGNC	protein_coding	OTTHUMT00000320957.5		0.00	37	0	C	NM_000545		121432118	+1	tier1		no_errors	ENST00000257555	ensembl	human	known	74_37	frame_shift_del	14.29	30	5	DEL	1.000	-
HNRNPD	3184	genome.wustl.edu	37	4	83276431	83276431	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:83276431delA	ENST00000313899.7	-	8	1376				HNRNPD_ENST00000508119.1_5'UTR|HNRNPD_ENST00000541060.1_3'UTR|HNRNPD_ENST00000353341.4_Intron|HNRNPD_ENST00000543098.1_Intron|HNRNPD_ENST00000352301.4_Intron	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)						circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TGTAAATGACAAAAAAAAACT	0.303																																																	0									,,,	13,2066,6,2181		0,11,0,2,494,0,1067,2,2,555	100.0	92.0	94.0		,,,	-9.3	0.0	4	dbSNP_130	94	4,1950,21,6277		0,4,0,0,214,0,1518,4,13,2373	no	intron,intron,intron,intron	HNRNPD	NM_031370.2,NM_031369.2,NM_002138.3,NM_001003810.1	,,,	0,15,0,2,708,0,2585,6,15,2928	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		23.9336,48.8748,32.4333	,,,	,,,	83276431	17,4016,27,8458	692	1591	2283	SO:0001627	intron_variant	0			AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.1065+25T>-	4.37:g.83276431delA			A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	RNA	DEL	-	NULL	ENST00000313899.7	37	NULL	CCDS3592.1	4																																																																																			HNRNPD	-	-	ENSG00000138668		0.303	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPD	HGNC	protein_coding	OTTHUMT00000252630.2		0.00	79	0	A	NM_031370		83276431	-1	tier1		no_errors	ENST00000508119	ensembl	human	known	74_37	rna	14.58	41	7	DEL	0.000	-
HNRNPL	3191	genome.wustl.edu	37	19	39330959	39330959	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:39330959delG	ENST00000221419.5	-	8	1376	c.1010delC	c.(1009-1011)ccafs	p.P338fs	HNRNPL_ENST00000600873.1_Frame_Shift_Del_p.P205fs|AC104534.3_ENST00000594769.1_5'Flank	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	338	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GTAGTGAGGTGGGGGGGGCCC	0.667																																																	0									,	35,46,3417		1,0,33,2,42,1671	9.0	12.0	11.0		,	4.0	1.0	19		11	49,101,6606		1,0,47,4,93,3233	no	codingComplex,codingComplex	HNRNPL	NM_001533.2,NM_001005335.1	,	2,0,80,6,135,4904	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2202,2.3156,2.2528	,	,	39330959	84,147,10023	1906	3709	5615	SO:0001589	frameshift_variant	0			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1010delC	19.37:g.39330959delG	ENSP00000221419:p.Pro338fs		A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.P337fs	ENST00000221419.5	37	c.1010	CCDS33015.1	19																																																																																			HNRNPL	-	tigrfam_HnRNP-L_PTB	ENSG00000104824		0.667	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	HGNC	protein_coding	OTTHUMT00000462670.1		0.00	54	0	G			39330959	-1	tier1		no_errors	ENST00000221419	ensembl	human	known	74_37	frame_shift_del	24.53	40	13	DEL	1.000	-
HOMEZ	57594	genome.wustl.edu	37	14	23746015	23746018	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAAG	AAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:23746015_23746018delAAAG	ENST00000357460.5	-	2	583_586	c.419_422delCTTT	c.(418-423)tcttttfs	p.SF140fs	HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.SF142fs|HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.SF142fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATGATGAGTAAAAGAGAGAAGGGA	0.534																																																	0																																										SO:0001589	frameshift_variant	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.419_422delCTTT	14.37:g.23746015_23746018delAAAG	ENSP00000350049:p.Ser140fs		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S142fs	ENST00000357460.5	37	c.428_425	CCDS45085.1	14																																																																																			HOMEZ	-	NULL	ENSG00000215271		0.534	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HOMEZ	HGNC	protein_coding	OTTHUMT00000416939.2		0.00	45	0	AAAG	NM_020834		23746018	-1	tier1		no_errors	ENST00000431326	ensembl	human	known	74_37	frame_shift_del	22.22	35	10	DEL	0.996:0.996:0.999:1.000	-
HOMEZ	57594	genome.wustl.edu	37	14	23746069	23746069	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:23746069C>T	ENST00000357460.5	-	2	532	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	HOMEZ_ENST00000561013.1_Missense_Mutation_p.R125Q|HOMEZ_ENST00000431326.2_Missense_Mutation_p.R125Q	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TACTCGGGCTCGAGTCTCTTC	0.527																																																	0													139.0	138.0	138.0					14																	23746069		1889	4101	5990	SO:0001583	missense	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.368G>A	14.37:g.23746069C>T	ENSP00000350049:p.Arg123Gln		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R125Q	ENST00000357460.5	37	c.374	CCDS45085.1	14	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917017	0.92249	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.64438	-0.1;-0.08	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.80105	0.4562	M	0.70595	2.14	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.79964	-0.1581	10	0.87932	D	0	-8.4829	19.6509	0.95805	0.0:1.0:0.0:0.0	.	125;123	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	Q	123;125	ENSP00000350049:R123Q;ENSP00000406579:R125Q	ENSP00000350049:R123Q	R	-	2	0	HOMEZ	22815909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.943000	0.63554	2.941000	0.99782	0.655000	0.94253	CGA	HOMEZ	-	NULL	ENSG00000215271		0.527	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HOMEZ	HGNC	protein_coding	OTTHUMT00000416939.2	-	0.00	61	0	C	NM_020834		23746069	-1	tier1	-	no_errors	ENST00000431326	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	T
HOPX	84525	genome.wustl.edu	37	4	57522048	57522048	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:57522048G>T	ENST00000337881.7	-	2	775	c.119C>A	c.(118-120)gCa>gAa	p.A40E	HOPX_ENST00000420433.1_Missense_Mutation_p.A58E|HOPX_ENST00000508121.1_Missense_Mutation_p.A58E|HOPX_ENST00000555760.2_Missense_Mutation_p.A40E|HOPX_ENST00000381255.3_Missense_Mutation_p.A40E|HOPX_ENST00000553379.2_Missense_Mutation_p.A40E|HOPX_ENST00000556614.2_Missense_Mutation_p.A40E|HOPX_ENST00000503639.3_Missense_Mutation_p.A40E|HOPX_ENST00000381260.3_Missense_Mutation_p.A40E|HOPX_ENST00000554144.1_Missense_Mutation_p.A58E|HOPX_ENST00000317745.7_Missense_Mutation_p.A40E|HOPX_ENST00000556376.2_Missense_Mutation_p.A40E	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	40					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					GGAAAGGCCTGCCTCGGCCGC	0.672																																																	0													76.0	68.0	70.0					4																	57522048		2203	4300	6503	SO:0001583	missense	0				CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.119C>A	4.37:g.57522048G>T	ENSP00000337330:p.Ala40Glu		A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.A58E	ENST00000337881.7	37	c.173	CCDS3507.1	4	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425329	0.43020	.	.	ENSG00000171476	ENST00000420433;ENST00000554144;ENST00000508121;ENST00000556376;ENST00000553379;ENST00000381260;ENST00000381255;ENST00000317745;ENST00000503639;ENST00000503864;ENST00000337881;ENST00000555760;ENST00000556614;ENST00000509435;ENST00000514890;ENST00000506661;ENST00000557328	D;D;D;D;D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	4.67	3.6	0.41247	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.325320	0.29964	N	0.010754	D	0.95433	0.8517	L	0.47716	1.5	0.32085	N	0.592665	D;D;B	0.69078	0.997;0.99;0.411	D;P;B	0.64877	0.93;0.856;0.172	D	0.94225	0.7471	10	0.59425	D	0.04	-23.7941	8.6305	0.33917	0.1259:0.0:0.8741:0.0	.	58;58;40	G3V294;E9PB55;Q9BPY8	.;.;HOP_HUMAN	E	58;58;58;40;40;40;40;40;40;40;40;40;40;40;40;40;40	ENSP00000396275:A58E;ENSP00000422175:A58E;ENSP00000451794:A40E;ENSP00000452340:A40E;ENSP00000370654:A40E;ENSP00000315198:A40E;ENSP00000424101:A40E;ENSP00000337330:A40E;ENSP00000452098:A40E;ENSP00000452003:A40E	ENSP00000315198:A40E	A	-	2	0	HOPX	57216805	1.000000	0.71417	0.996000	0.52242	0.429000	0.31625	3.770000	0.55310	2.128000	0.65567	0.491000	0.48974	GCA	HOPX	-	superfamily_Homeodomain-like	ENSG00000171476		0.672	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HOPX	HGNC	protein_coding	OTTHUMT00000250689.4	-	0.00	53	0	G			57522048	-1	tier1	-	no_errors	ENST00000554144	ensembl	human	known	74_37	missense	8.33	43	4	SNP	0.966	T
HOXA9	3205	genome.wustl.edu	37	7	27202966	27202966	+	3'UTR	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:27202966delC	ENST00000343483.6	-	0	1147				RP1-170O19.20_ENST00000465941.1_5'Flank|HOXA9_ENST00000497089.1_5'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9						endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						AGCACTAATGCCCCCCCCTCA	0.393			T	"""NUP98, MSI2"""	AML*																																			Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.*256G>-	7.37:g.27202966delC			O43369|O43429|Q99820	RNA	DEL	-	NULL	ENST00000343483.6	37	NULL	CCDS5409.1	7																																																																																			HOXA9	-	-	ENSG00000078399		0.393	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA9	HGNC	protein_coding	OTTHUMT00000358706.2		0.00	55	0	C			27202966	-1	tier1		no_errors	ENST00000487384	ensembl	human	known	74_37	rna	32.56	29	14	DEL	0.997	-
HOXA9	3205	genome.wustl.edu	37	7	27204776	27204776	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:27204776C>G	ENST00000343483.6	-	1	373	c.301G>C	c.(301-303)Gcg>Ccg	p.A101P	RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000396345.1_Missense_Mutation_p.A101P|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	101					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TCCGGCGCCGCCGCCGCCACG	0.716			T	"""NUP98, MSI2"""	AML*																																			Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0													7.0	10.0	9.0					7																	27204776		2031	4025	6056	SO:0001583	missense	0				CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.301G>C	7.37:g.27204776C>G	ENSP00000343619:p.Ala101Pro		O43369|O43429|Q99820	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A101P	ENST00000343483.6	37	c.301	CCDS5409.1	7	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474612	0.26511	.	.	ENSG00000078399	ENST00000343483;ENST00000242050;ENST00000396345	D	0.93763	-3.28	5.36	5.36	0.76844	Hox9, N-terminal activation domain (1);	0.000000	0.64402	D	0.000011	D	0.89753	0.6806	L	0.41236	1.265	0.43971	D	0.996651	B	0.09022	0.002	B	0.15484	0.013	D	0.85651	0.1282	10	0.40728	T	0.16	.	13.9871	0.64341	0.1515:0.8485:0.0:0.0	.	101	P31269	HXA9_HUMAN	P	101;92;101	ENSP00000343619:A101P	ENSP00000242050:A92P	A	-	1	0	HOXA9	27171301	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.772000	0.47678	2.535000	0.85469	0.561000	0.74099	GCG	HOXA9	-	pfam_Hox9_activation_N,pirsf_Homeobox_Hox9	ENSG00000078399		0.716	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA9	HGNC	protein_coding	OTTHUMT00000358706.2		0.00	33	0	C			27204776	-1			no_errors	ENST00000343483	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G
HOXC9	3225	genome.wustl.edu	37	12	54394172	54394172	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:54394172C>T	ENST00000303450.4	+	1	270	c.200C>T	c.(199-201)gCg>gTg	p.A67V	HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000508190.1_Missense_Mutation_p.A67V|HOXC-AS1_ENST00000512427.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000504557.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	67					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACGTCGTGGGCGCCCGTGCCC	0.682																																																	0													35.0	34.0	35.0					12																	54394172		2202	4297	6499	SO:0001583	missense	0				CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.200C>T	12.37:g.54394172C>T	ENSP00000302836:p.Ala67Val		B2RCN7|Q9H1I0	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A67V	ENST00000303450.4	37	c.200	CCDS8869.1	12	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371944	0.61624	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.93547	-3.24;-3.24	4.04	4.04	0.47022	Hox9, N-terminal activation domain (1);	0.077242	0.53938	D	0.000051	D	0.91556	0.7333	M	0.68593	2.085	0.58432	D	0.999991	B	0.32425	0.371	B	0.33568	0.166	D	0.91751	0.5412	10	0.72032	D	0.01	.	11.5268	0.50584	0.0:0.8179:0.1821:0.0	.	67	P31274	HXC9_HUMAN	V	67	ENSP00000423861:A67V;ENSP00000302836:A67V	ENSP00000302836:A67V	A	+	2	0	HOXC9	52680439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.668000	0.54554	2.268000	0.75426	0.561000	0.74099	GCG	HOXC9	-	pfam_Hox9_activation_N,pirsf_Homeobox_Hox9	ENSG00000180806		0.682	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC9	HGNC	protein_coding	OTTHUMT00000358958.1	-	0.00	55	0	C			54394172	+1	tier1	-	no_errors	ENST00000303450	ensembl	human	known	74_37	missense	15.91	37	7	SNP	1.000	T
HOXD8	3234	genome.wustl.edu	37	2	176996151	176996151	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:176996151C>T	ENST00000313173.4	+	2	1311	c.684C>T	c.(682-684)atC>atT	p.I228I	HOXD8_ENST00000450510.2_Silent_p.I227I|HOXD8_ENST00000429017.1_Silent_p.I44I|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Silent_p.I227I|HOXD8_ENST00000548663.1_Silent_p.I124I	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	228					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAAGAAGAATCGAGGTTTCCC	0.433																																																	0													154.0	179.0	171.0					2																	176996151		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.684C>T	2.37:g.176996151C>T			F8WBG7|Q5BL00|Q8IXZ1	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.I228	ENST00000313173.4	37	c.684	CCDS2268.1	2																																																																																			HOXD8	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	ENSG00000175879		0.433	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HOXD8	HGNC	protein_coding	OTTHUMT00000255694.1	-	0.00	40	0	C			176996151	+1	tier1	-	no_errors	ENST00000313173	ensembl	human	known	74_37	silent	15.79	48	9	SNP	1.000	T
HPS6	79803	genome.wustl.edu	37	10	103826900	103826900	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:103826900delC	ENST00000299238.5	+	1	1754	c.1669delC	c.(1669-1671)cccfs	p.P558fs		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	558					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TGGAAAGGAACCCCCCAATGG	0.587									Hermansky-Pudlak syndrome																																								0													64.0	62.0	63.0					10																	103826900		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1669delC	10.37:g.103826900delC	ENSP00000299238:p.Pro558fs		Q5VV69|Q9H685	Frame_Shift_Del	DEL	pirsf_BLOC-2_complex_Hps6_subunit	p.N559fs	ENST00000299238.5	37	c.1669	CCDS7527.1	10																																																																																			HPS6	-	pirsf_BLOC-2_complex_Hps6_subunit	ENSG00000166189		0.587	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	HGNC	protein_coding	OTTHUMT00000050018.2		0.00	84	0	C	NM_024747		103826900	+1	tier1		no_errors	ENST00000299238	ensembl	human	known	74_37	frame_shift_del	27.59	42	16	DEL	0.013	-
HPX	3263	genome.wustl.edu	37	11	6452975	6452975	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6452975G>A	ENST00000265983.3	-	9	1125	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	342					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CAGCCGCTTCGGATAACCGCT	0.517																																																	0													97.0	105.0	102.0					11																	6452975		2201	4296	6497	SO:0001583	missense	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1025C>T	11.37:g.6452975G>A	ENSP00000265983:p.Pro342Leu		B2R957	Missense_Mutation	SNP	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	p.P342L	ENST00000265983.3	37	c.1025	CCDS7763.1	11	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524074	0.85600	.	.	ENSG00000110169	ENST00000265983	T	0.05513	3.43	5.49	5.49	0.81192	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00603	-1.1649	10	0.87932	D	0	-10.6213	16.8493	0.85989	0.0:0.0:1.0:0.0	.	342	P02790	HEMO_HUMAN	L	342	ENSP00000265983:P342L	ENSP00000265983:P342L	P	-	2	0	HPX	6409551	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.271000	0.72569	2.588000	0.87417	0.462000	0.41574	CCG	HPX	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	ENSG00000110169		0.517	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	-	0.00	43	0	G	NM_000613		6452975	-1	tier1	-	no_errors	ENST00000265983	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	A
HR	55806	genome.wustl.edu	37	8	21984704	21984704	+	Silent	SNP	G	G	A	rs146491425	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:21984704G>A	ENST00000381418.4	-	3	2731	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P	HR_ENST00000312841.8_Silent_p.P417P	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	417					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTGGACCTCGGGGCTGCCTG	0.682																																																	0								G	,	0,4404		0,0,2202	47.0	57.0	54.0		1251,1251	-9.6	0.1	8	dbSNP_134	54	2,8588		0,2,4293	no	coding-synonymous,coding-synonymous	HR	NM_005144.4,NM_018411.4	,	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	,	417/1190,417/1135	21984704	2,12992	2202	4295	6497	SO:0001819	synonymous_variant	0			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1251C>T	8.37:g.21984704G>A			Q6GS30|Q96H33|Q9NPE1	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P417	ENST00000381418.4	37	c.1251	CCDS6022.1	8																																																																																			HR	-	NULL	ENSG00000168453		0.682	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HR	HGNC	protein_coding	OTTHUMT00000214213.1	-	0.00	41	0	G			21984704	-1	tier1	rs146491425	no_errors	ENST00000381418	ensembl	human	known	74_37	silent	12.90	54	8	SNP	0.192	A
HRC	3270	genome.wustl.edu	37	19	49657665	49657665	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49657665C>A	ENST00000252825.4	-	1	1016	c.830G>T	c.(829-831)gGg>gTg	p.G277V	HRC_ENST00000595625.1_Missense_Mutation_p.G277V	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	277	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCTTCAATCCCGTGGCCTTG	0.468																																					Melanoma(37;75 1097 24567 25669 30645)												0													202.0	153.0	169.0					19																	49657665		2203	4300	6503	SO:0001583	missense	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.830G>T	19.37:g.49657665C>A	ENSP00000252825:p.Gly277Val		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.G277V	ENST00000252825.4	37	c.830	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768495	0.31320	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.30182	1.54	3.33	-0.192	0.13248	.	.	.	.	.	T	0.41971	0.1182	L	0.52905	1.665	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.22906	-1.0203	9	0.39692	T	0.17	-1.019	5.8088	0.18454	0.0:0.6129:0.0:0.3871	.	277	P23327	SRCH_HUMAN	V	277;247	ENSP00000252825:G277V	ENSP00000252825:G277V	G	-	2	0	HRC	54349477	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.363000	0.02592	-0.183000	0.10585	-0.379000	0.06801	GGG	HRC	-	pfam_Hist_rich_Ca-bd	ENSG00000130528		0.468	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	-	0.00	59	0	C	NM_002152		49657665	-1	tier1	-	no_errors	ENST00000252825	ensembl	human	known	74_37	missense	33.33	40	20	SNP	0.000	A
HS3ST4	9951	genome.wustl.edu	37	16	25703777	25703777	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:25703777G>A	ENST00000331351.5	+	1	431	c.39G>A	c.(37-39)ccG>ccA	p.P13P		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	13					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ctccgcctccgcctccacctc	0.776																																																	0													3.0	3.0	3.0					16																	25703777		1040	2263	3303	SO:0001819	synonymous_variant	0			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.39G>A	16.37:g.25703777G>A			Q5QI42|Q8NDC2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P13	ENST00000331351.5	37	c.39	CCDS53995.1	16																																																																																			HS3ST4	-	NULL	ENSG00000182601		0.776	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	HGNC	protein_coding	OTTHUMT00000133286.2		0.00	19	0	G	NM_006040		25703777	+1			no_errors	ENST00000331351	ensembl	human	known	74_37	silent	21.43	11	3	SNP	1.000	A
HS6ST2	90161	genome.wustl.edu	37	X	131762903	131762903	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:131762903C>T	ENST00000370836.2	-	4	1581	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	HS6ST2_ENST00000406696.3_Missense_Mutation_p.R115H|HS6ST2_ENST00000370833.2_Missense_Mutation_p.R283H|HS6ST2_ENST00000521489.1_Missense_Mutation_p.R429H	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	389					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GCGCACCTGGCGGTTGTTGGC	0.552																																																	0													77.0	76.0	76.0					X																	131762903		2050	4197	6247	SO:0001583	missense	0			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1166G>A	X.37:g.131762903C>T	ENSP00000359873:p.Arg389His		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.R429H	ENST00000370836.2	37	c.1286	CCDS48169.1	X	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335758	0.81801	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833;ENST00000319809	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	6.02	6.02	0.97574	.	0.048238	0.85682	D	0.000000	D	0.90317	0.6971	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.989	D	0.91418	0.5156	10	0.66056	D	0.02	-5.6142	18.3084	0.90190	0.0:1.0:0.0:0.0	.	389;429;115	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	H	243;389;429;115;283;270	ENSP00000359874:R243H;ENSP00000359873:R389H;ENSP00000429473:R429H;ENSP00000384013:R115H;ENSP00000359870:R283H	ENSP00000324617:R270H	R	-	2	0	HS6ST2	131590584	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.549000	0.85964	0.600000	0.82982	CGC	HS6ST2	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000171004		0.552	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	-	0.00	78	0	C	NM_147174		131762903	-1	tier1	-	no_errors	ENST00000521489	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	T
HS6ST2	90161	genome.wustl.edu	37	X	132092616	132092616	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:132092616C>T	ENST00000370836.2	-	2	430	c.15G>A	c.(13-15)gcG>gcA	p.A5A	HS6ST2_ENST00000370833.2_5'Flank|HS6ST2_ENST00000521489.1_Silent_p.A5A	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	5					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GGACTGCACACGCAGGCAGTG	0.612																																																	0													4.0	4.0	4.0					X																	132092616		1774	3800	5574	SO:0001819	synonymous_variant	0			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.15G>A	X.37:g.132092616C>T			B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.A5	ENST00000370836.2	37	c.15	CCDS48169.1	X																																																																																			HS6ST2	-	NULL	ENSG00000171004		0.612	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	-	0.00	43	0	C	NM_147174		132092616	-1	tier1	-	no_errors	ENST00000521489	ensembl	human	known	74_37	silent	26.32	14	5	SNP	1.000	T
HSF1	3297	genome.wustl.edu	37	8	145533057	145533057	+	Intron	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145533057A>G	ENST00000528838.1	+	3	386				HSF1_ENST00000400780.4_Intron	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1						cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CAAGCCCCGCAGCAGCCTCCT	0.662																																																	0																																										SO:0001627	intron_variant	0			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.227-84A>G	8.37:g.145533057A>G			A8K4L0|A8MW26|Q53XT4	RNA	SNP	-	NULL	ENST00000528838.1	37	NULL	CCDS6419.1	8																																																																																			HSF1	-	-	ENSG00000185122		0.662	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF1	HGNC	protein_coding	OTTHUMT00000382053.1	-	0.00	47	0	A	NM_005526		145533057	+1	tier1	-	no_errors	ENST00000528199	ensembl	human	known	74_37	rna	36.51	40	23	SNP	0.000	G
HSP90AA1	3320	genome.wustl.edu	37	14	102550810	102550810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:102550810delT	ENST00000216281.8	-	6	1278	c.1073delA	c.(1072-1074)aagfs	p.K358fs	HSP90AA1_ENST00000334701.7_Frame_Shift_Del_p.K480fs|HSP90AA1_ENST00000441629.2_Frame_Shift_Del_p.K179fs	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	358					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GATGTTGTTCTTTTTCTTTCT	0.358																																																	0													86.0	72.0	76.0					14																	102550810		2203	4300	6503	SO:0001589	frameshift_variant	0			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1073delA	14.37:g.102550810delT	ENSP00000216281:p.Lys358fs		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Frame_Shift_Del	DEL	pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N	p.K480fs	ENST00000216281.8	37	c.1439	CCDS9967.1	14																																																																																			HSP90AA1	-	pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000080824		0.358	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2		0.00	62	0	T	NM_005348		102550810	-1	tier1		no_errors	ENST00000334701	ensembl	human	known	74_37	frame_shift_del	30.77	27	12	DEL	1.000	-
HSP90AA4P	3323	genome.wustl.edu	37	4	190395839	190395839	+	RNA	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:190395839delA	ENST00000378770.1	+	0	831							Q58FG1	HS904_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)										aaaacgaaacaaaaaaaaaaC	0.398																																																	0																																												0					4q35.2	2011-04-15	2011-04-15	2006-02-24	ENSG00000205100	ENSG00000205100			5255	pseudogene	pseudogene			"""heat shock 90kD protein 1, alpha-like 2"", ""heat shock 90kDa protein 1, alpha-like 2"""	HSPCAL2		1740332, 16269234	Standard	NG_003014		Approved			Q58FG1	OTTHUMG00000160204		4.37:g.190395839delA				RNA	DEL	-	NULL	ENST00000378770.1	37	NULL		4																																																																																			HSP90AA4P	-	-	ENSG00000205100		0.398	HSP90AA4P-002	KNOWN	basic	processed_transcript	HSP90AA4P	HGNC	pseudogene	OTTHUMT00000359634.1		0.00	59	0	A	NG_003014		190395839	+1	tier1		no_errors	ENST00000378770	ensembl	human	known	74_37	rna	20.69	46	12	DEL	0.000	-
HSPA12B	116835	genome.wustl.edu	37	20	3731495	3731496	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:3731495_3731496insT	ENST00000254963.2	+	12	1491_1492	c.1346_1347insT	c.(1345-1350)tcttgtfs	p.C450fs	HSPA12B_ENST00000542646.1_Frame_Shift_Ins_p.C284fs	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	450							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CTCCGAATGTCTTGTGAAGCCA	0.579																																																	0																																										SO:0001589	frameshift_variant	0			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1348dupT	20.37:g.3731497_3731497dupT	ENSP00000254963:p.Cys450fs		D3DVX7|Q2TAK3|Q9BR52	Frame_Shift_Ins	INS	NULL	p.C450fs	ENST00000254963.2	37	c.1346_1347	CCDS13061.1	20																																																																																			HSPA12B	-	NULL	ENSG00000132622		0.579	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12B	HGNC	protein_coding	OTTHUMT00000077756.2		0.00	17	0	-	NM_052970		3731496	+1	tier1		no_errors	ENST00000254963	ensembl	human	known	74_37	frame_shift_ins	41.67	14	10	INS	0.999:0.346	T
HSPA9	3313	genome.wustl.edu	37	5	137909470	137909471	+	In_Frame_Ins	INS	-	-	GTT			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:137909470_137909471insGTT	ENST00000297185.3	-	3	334_335	c.209_210insAAC	c.(208-210)atg>atAACg	p.70_70M>IT		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	70					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTTACCTTCCATAACTGCCAC	0.401																																																	0																																										SO:0001652	inframe_insertion	0			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.209_210insAAC	5.37:g.137909470_137909471insGTT	ENSP00000297185:p.Met70delinsIleThr		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	In_Frame_Ins	INS	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.M70in_frame_insIT	ENST00000297185.3	37	c.210_209	CCDS4208.1	5																																																																																			HSPA9	-	pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK	ENSG00000113013		0.401	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1		0.00	33	0	-	NM_004134		137909471	-1	tier1		no_errors	ENST00000297185	ensembl	human	known	74_37	in_frame_ins	13.64	38	6	INS	1.000:1.000	GTT
HSPB7	27129	genome.wustl.edu	37	1	16345792	16345792	+	5'Flank	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:16345792C>T	ENST00000311890.9	-	0	0				CLCNKA_ENST00000439316.2_5'Flank|CLCNKA_ENST00000420078.1_5'Flank|HSPB7_ENST00000545268.1_5'Flank|CLCNKA_ENST00000331433.4_5'Flank|HSPB7_ENST00000375718.4_Missense_Mutation_p.S58N|CLCNKA_ENST00000375692.1_5'Flank|CLCNKA_ENST00000464764.1_Intron|HSPB7_ENST00000406363.2_5'Flank|HSPB7_ENST00000411503.1_5'Flank|HSPB7_ENST00000487046.1_5'Flank	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)						regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		acTGCTCCTGCTCACATGGGC	0.597																																																	0																																										SO:0001631	upstream_gene_variant	0			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531		1.37:g.16345792C>T	Exception_encountered		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.S58N	ENST00000311890.9	37	c.173	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611604	0.28712	.	.	ENSG00000173641	ENST00000375718	D	0.93426	-3.22	2.54	1.62	0.23740	.	.	.	.	.	D	0.88306	0.6401	.	.	.	0.09310	N	0.999999	B	0.17465	0.022	B	0.19666	0.026	T	0.80251	-0.1460	8	0.87932	D	0	.	5.2089	0.15307	0.0:0.8324:0.0:0.1676	.	58	Q8N241	.	N	58	ENSP00000364870:S58N	ENSP00000364870:S58N	S	-	2	0	HSPB7	16218379	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-0.388000	0.07352	0.638000	0.30545	0.585000	0.79938	AGC	HSPB7	-	NULL	ENSG00000173641		0.597	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	HGNC	protein_coding	OTTHUMT00000026334.2		0.00	46	0	C	NM_014424		16345792	-1			no_errors	ENST00000375718	ensembl	human	novel	74_37	missense	10.64	42	5	SNP	0.003	T
HSPD1P6	645548	genome.wustl.edu	37	3	36810381	36810382	+	RNA	DEL	TT	TT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:36810381_36810382delTT	ENST00000424886.1	-	0	404_405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttta	0.545																																																	0																																												0					3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810389_36810390delTT				RNA	DEL	-	NULL	ENST00000424886.1	37	NULL		3																																																																																			HSPD1P6	-	-	ENSG00000230067		0.545	HSPD1P6-002	KNOWN	basic	processed_transcript	HSPD1P6	HGNC	pseudogene	OTTHUMT00000341724.1		0.00	9	0	TT	XR_017400		36810382	-1	tier1		no_errors	ENST00000424886	ensembl	human	known	74_37	rna	70.00	3	7	DEL	0.040:0.025	-
HSPG2	3339	genome.wustl.edu	37	1	22161279	22161279	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:22161279C>T	ENST00000374695.3	-	77	10692	c.10613G>A	c.(10612-10614)gGt>gAt	p.G3538D		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3538	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCTGACGACACCTCCGCTCTG	0.622																																																	0													108.0	76.0	87.0					1																	22161279		2203	4300	6503	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10613G>A	1.37:g.22161279C>T	ENSP00000363827:p.Gly3538Asp		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.G3538D	ENST00000374695.3	37	c.10613	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399421	0.42512	.	.	ENSG00000142798	ENST00000374695;ENST00000426143	D;T	0.81739	-1.53;-0.22	4.89	3.0	0.34707	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.512614	0.15448	N	0.261803	D	0.84288	0.5439	M	0.66378	2.025	0.30070	N	0.81014	P;P	0.48503	0.911;0.739	P;B	0.56216	0.794;0.403	T	0.79507	-0.1775	10	0.51188	T	0.08	.	9.4009	0.38431	0.0:0.8238:0.0:0.1762	.	1478;3538	Q59EG0;P98160	.;PGBM_HUMAN	D	3538;90	ENSP00000363827:G3538D;ENSP00000392022:G90D	ENSP00000363827:G3538D	G	-	2	0	HSPG2	22033866	0.879000	0.30193	0.016000	0.15963	0.035000	0.12851	2.966000	0.49208	1.049000	0.40321	0.313000	0.20887	GGT	HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142798		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0.00	42	0	C	NM_005529		22161279	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.937	T
HSPG2	3339	genome.wustl.edu	37	1	22205107	22205107	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:22205107C>T	ENST00000374695.3	-	19	2600	c.2521G>A	c.(2521-2523)Gcc>Acc	p.A841T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	841	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGGCACAGGCGTCACATGTG	0.627																																																	0													54.0	54.0	54.0					1																	22205107		2203	4299	6502	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2521G>A	1.37:g.22205107C>T	ENSP00000363827:p.Ala841Thr		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.A841T	ENST00000374695.3	37	c.2521	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478364	0.63849	.	.	ENSG00000142798	ENST00000374695	T	0.63255	-0.03	5.44	4.53	0.55603	EGF-like, laminin (4);	0.000000	0.37669	N	0.001985	T	0.73125	0.3547	M	0.64997	1.995	0.42735	D	0.993726	D	0.89917	1.0	D	0.85130	0.997	T	0.73871	-0.3846	10	0.54805	T	0.06	.	8.3284	0.32171	0.0:0.8233:0.0:0.1767	.	841	P98160	PGBM_HUMAN	T	841	ENSP00000363827:A841T	ENSP00000363827:A841T	A	-	1	0	HSPG2	22077694	0.994000	0.37717	0.094000	0.20943	0.891000	0.51852	3.275000	0.51639	1.285000	0.44548	0.555000	0.69702	GCC	HSPG2	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom	ENSG00000142798		0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0.00	108	0	C	NM_005529		22205107	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	36.84	60	35	SNP	0.910	T
HSPH1	10808	genome.wustl.edu	37	13	31729669	31729670	+	Frame_Shift_Ins	INS	-	-	T	rs374931244		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:31729669_31729670insT	ENST00000320027.5	-	3	631_632	c.287_288insA	c.(286-288)aatfs	p.N96fs	HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N98fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N96fs|HSPH1_ENST00000429785.2_De_novo_Start_OutOfFrame|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N96fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	96					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CAACTCCACCATTTTTCAATGG	0.317																																																	0																																										SO:0001589	frameshift_variant	0			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.288dupA	13.37:g.31729674_31729674dupT	ENSP00000318687:p.Asn96fs		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Frame_Shift_Ins	INS	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.N98fs	ENST00000320027.5	37	c.294_293	CCDS9340.1	13																																																																																			HSPH1	-	pfam_Hsp_70_fam	ENSG00000120694		0.317	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1		0.00	42	0	-			31729670	-1	tier1		no_errors	ENST00000445273	ensembl	human	known	74_37	frame_shift_ins	23.81	32	10	INS	1.000:1.000	T
HTRA2	27429	genome.wustl.edu	37	2	74757418	74757418	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:74757418C>A	ENST00000258080.3	+	1	915	c.285C>A	c.(283-285)gcC>gcA	p.A95A	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Silent_p.A95A|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	95					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CCCGGGAGGCCTCAGAGAACT	0.697																																																	0													10.0	13.0	12.0					2																	74757418		2180	4287	6467	SO:0001819	synonymous_variant	0				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.285C>A	2.37:g.74757418C>A			Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.A95	ENST00000258080.3	37	c.285	CCDS1951.1	2																																																																																			HTRA2	-	NULL	ENSG00000115317		0.697	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA2	HGNC	protein_coding	OTTHUMT00000252219.2	-	0.00	55	0	C	NM_013247		74757418	+1	tier1	-	no_errors	ENST00000258080	ensembl	human	known	74_37	silent	13.73	44	7	SNP	0.006	A
HUWE1	10075	genome.wustl.edu	37	X	53570860	53570860	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:53570860G>A	ENST00000342160.3	-	72	11778	c.11321C>T	c.(11320-11322)gCc>gTc	p.A3774V	HUWE1_ENST00000262854.6_Missense_Mutation_p.A3774V|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3774					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGTATAATGGCATCAGCCTC	0.537																																																	0													75.0	46.0	56.0					X																	53570860		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11321C>T	X.37:g.53570860G>A	ENSP00000340648:p.Ala3774Val		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.A3774V	ENST00000342160.3	37	c.11321	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	g	14.71	2.617594	0.46736	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.39592	1.07;1.07	5.08	5.08	0.68730	.	0.207171	0.40222	N	0.001159	T	0.52306	0.1726	L	0.34521	1.04	0.80722	D	1	P;D;D	0.67145	0.808;0.993;0.996	B;D;D	0.70935	0.373;0.935;0.971	T	0.46748	-0.9169	10	0.30078	T	0.28	.	16.3992	0.83633	0.0:0.0:1.0:0.0	.	611;3774;3758	Q5H935;Q7Z6Z7;Q7Z6Z7-2	.;HUWE1_HUMAN;.	V	3774	ENSP00000340648:A3774V;ENSP00000262854:A3774V	ENSP00000262854:A3774V	A	-	2	0	HUWE1	53587585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.753000	0.91637	2.126000	0.65437	0.534000	0.68092	GCC	HUWE1	-	NULL	ENSG00000086758		0.537	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0.00	27	0	G	XM_497119		53570860	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	A
HUWE1	10075	genome.wustl.edu	37	X	53600796	53600796	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:53600796C>T	ENST00000342160.3	-	46	6683	c.6226G>A	c.(6226-6228)Gca>Aca	p.A2076T	HUWE1_ENST00000262854.6_Missense_Mutation_p.A2076T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2076					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCAACTCTGCCAGAAGACGA	0.483																																																	0													223.0	166.0	185.0					X																	53600796		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6226G>A	X.37:g.53600796C>T	ENSP00000340648:p.Ala2076Thr		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.A2076T	ENST00000342160.3	37	c.6226	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.447189|4.447189	0.84101|0.84101	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.56275|.	0.47;0.47|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55097|0.55097	0.1899|0.1899	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.993;0.996|.	D;D|.	0.79784|.	0.971;0.993|.	T|T	0.50372|0.50372	-0.8836|-0.8836	10|5	0.15499|.	T|.	0.54|.	.|.	17.8223|17.8223	0.88654|0.88654	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2076;2076|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	T|D	2076|1109	ENSP00000340648:A2076T;ENSP00000262854:A2076T|.	ENSP00000262854:A2076T|.	A|G	-|-	1|2	0|0	HUWE1|HUWE1	53617521|53617521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.428000|7.428000	0.80296|0.80296	2.482000|2.482000	0.83794|0.83794	0.544000|0.544000	0.68410|0.68410	GCA|GGC	HUWE1	-	NULL	ENSG00000086758		0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1		0.00	88	0	C	XM_497119		53600796	-1			no_errors	ENST00000262854	ensembl	human	known	74_37	missense	6.49	71	5	SNP	1.000	T
IARS	3376	genome.wustl.edu	37	9	95003101	95003101	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:95003101delA	ENST00000375643.3	-	30	3550				IARS_ENST00000447699.2_Intron|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000375627.1_Intron|IARS_ENST00000443024.2_Intron|IARS_ENST00000375629.3_Intron	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAGTATAACTAAAAAAAAGTC	0.299																																																	0													54.0	49.0	51.0					9																	95003101		2203	4300	6503	SO:0001627	intron_variant	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3283+36T>-	9.37:g.95003101delA			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	RNA	DEL	-	NULL	ENST00000375643.3	37	NULL	CCDS6694.1	9																																																																																			IARS	-	-	ENSG00000196305		0.299	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2		0.00	83	0	A	NM_002161		95003101	-1	tier1		no_errors	ENST00000473915	ensembl	human	known	74_37	rna	15.25	50	9	DEL	0.006	-
IARS	3376	genome.wustl.edu	37	9	95009783	95009783	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:95009783G>T	ENST00000375643.3	-	26	2933	c.2667C>A	c.(2665-2667)ggC>ggA	p.G889G	IARS_ENST00000447699.2_Silent_p.G779G|IARS_ENST00000375627.1_5'Flank|IARS_ENST00000443024.2_Silent_p.G889G|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	889					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TTAGCCGAATGCCATACTTGT	0.433																																																	0													163.0	134.0	144.0					9																	95009783		2203	4300	6503	SO:0001819	synonymous_variant	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2667C>A	9.37:g.95009783G>T			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.G889	ENST00000375643.3	37	c.2667	CCDS6694.1	9																																																																																			IARS	-	superfamily_tRNAsynth_1a_anticodon-bd	ENSG00000196305		0.433	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	-	0.00	48	0	G	NM_002161		95009783	-1	tier1	-	no_errors	ENST00000375643	ensembl	human	known	74_37	silent	16.36	46	9	SNP	0.913	T
IBTK	25998	genome.wustl.edu	37	6	82935221	82935221	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:82935221C>A	ENST00000306270.7	-	6	1347	c.798G>T	c.(796-798)ccG>ccT	p.P266P	IBTK_ENST00000503631.1_Silent_p.P266P|IBTK_ENST00000510291.1_Silent_p.P266P	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	266					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AACTGGAAGGCGGTGGAATAA	0.323																																																	0													73.0	69.0	71.0					6																	82935221		2203	4300	6503	SO:0001819	synonymous_variant	0			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.798G>T	6.37:g.82935221C>A			Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.P266	ENST00000306270.7	37	c.798	CCDS34490.1	6																																																																																			IBTK	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000005700		0.323	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	-	0.00	75	0	C	NM_015525		82935221	-1	tier1	-	no_errors	ENST00000306270	ensembl	human	known	74_37	silent	18.06	59	13	SNP	1.000	A
IDI2	91734	genome.wustl.edu	37	10	1070564	1070564	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:1070564C>T	ENST00000277517.1	-	2	164	c.100G>A	c.(100-102)Gac>Aac	p.D34N	IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	34					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CTCTTGGTGTCGGCACCAATA	0.478																																																	0													141.0	118.0	126.0					10																	1070564		2203	4300	6503	SO:0001583	missense	0			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.100G>A	10.37:g.1070564C>T	ENSP00000277517:p.Asp34Asn			Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.D34N	ENST00000277517.1	37	c.100	CCDS7055.1	10	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282252	0.59867	.	.	ENSG00000148377	ENST00000277517	.	.	.	3.21	1.2	0.21068	NUDIX hydrolase domain-like (1);	0.284913	0.37053	U	0.002275	T	0.51550	0.1681	M	0.83312	2.635	0.49798	D	0.999826	D	0.53462	0.96	B	0.42692	0.395	T	0.52253	-0.8600	9	0.51188	T	0.08	-10.9933	7.058	0.25109	0.0:0.7195:0.175:0.1055	.	34	Q9BXS1	IDI2_HUMAN	N	34	.	ENSP00000277517:D34N	D	-	1	0	IDI2	1060564	0.967000	0.33354	0.001000	0.08648	0.460000	0.32559	2.901000	0.48695	0.192000	0.20272	0.134000	0.15878	GAC	IDI2	-	superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	ENSG00000148377		0.478	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI2	HGNC	protein_coding	OTTHUMT00000046411.1	-	0.00	58	0	C	NM_033261		1070564	-1	tier1	-	no_errors	ENST00000277517	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.946	T
IFI35	3430	genome.wustl.edu	37	17	41158875	41158875	+	5'UTR	DEL	G	G	-	rs28525485		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:41158875delG	ENST00000415816.2	+	0	134				IFI35_ENST00000438323.2_5'UTR|IFI35_ENST00000536969.1_3'UTR	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		ACAGCCCTTTGGGGGGTACAA	0.552																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.-90G>-	17.37:g.41158875delG			C9JGX1|Q92984|Q99537|Q9BV98	RNA	DEL	-	NULL	ENST00000415816.2	37	NULL		17																																																																																			IFI35	-	-	ENSG00000068079		0.552	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	IFI35	HGNC	protein_coding	OTTHUMT00000395851.1		0.00	34	0	G	NM_005533		41158875	+1	tier1		no_errors	ENST00000536969	ensembl	human	known	74_37	rna	23.68	29	9	DEL	0.000	-
IFNG	3458	genome.wustl.edu	37	12	68553363	68553363	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:68553363C>A	ENST00000229135.3	-	1	164	c.33G>T	c.(31-33)caG>caT	p.Q11H	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	11					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	CGATGCAGAGCTGAAAAGCCA	0.358																																																	0													43.0	39.0	40.0					12																	68553363		2203	4299	6502	SO:0001583	missense	0				CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.33G>T	12.37:g.68553363C>A	ENSP00000229135:p.Gln11His		B5BU88|Q53ZV4	Missense_Mutation	SNP	pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma	p.Q11H	ENST00000229135.3	37	c.33	CCDS8980.1	12	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409594	0.25465	.	.	ENSG00000111537	ENST00000229135	T	0.33865	1.39	5.12	3.3	0.37823	.	0.793470	0.11748	N	0.533297	T	0.58566	0.2131	M	0.83118	2.625	0.25186	N	0.990165	D	0.76494	0.999	D	0.64595	0.927	T	0.46148	-0.9212	9	.	.	.	8.5897	8.6384	0.33962	0.0:0.8181:0.0:0.1819	.	11	P01579	IFNG_HUMAN	H	11	ENSP00000229135:Q11H	.	Q	-	3	2	IFNG	66839630	1.000000	0.71417	0.385000	0.26158	0.023000	0.10783	1.561000	0.36342	0.833000	0.34828	-0.333000	0.08304	CAG	IFNG	-	pirsf_Interferon_gamma	ENSG00000111537		0.358	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNG	HGNC	protein_coding	OTTHUMT00000402301.1	-	0.00	76	0	C			68553363	-1	tier1	-	no_errors	ENST00000229135	ensembl	human	known	74_37	missense	41.82	32	23	SNP	0.730	A
IGFALS	3483	genome.wustl.edu	37	16	1840901	1840901	+	Silent	SNP	C	C	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1840901C>G	ENST00000215539.3	-	2	1628	c.1518G>C	c.(1516-1518)ggG>ggC	p.G506G	IGFALS_ENST00000415638.3_Silent_p.G544G			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	506					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGCGCAGCCGCCCCAGTGGTG	0.701																																																	0													11.0	11.0	11.0					16																	1840901		2151	4274	6425	SO:0001819	synonymous_variant	0			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1518G>C	16.37:g.1840901C>G			B4DZY8|E9PGU3	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G544	ENST00000215539.3	37	c.1632	CCDS10446.1	16																																																																																			IGFALS	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000099769		0.701	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFALS	HGNC	protein_coding	OTTHUMT00000250509.2	-	0.00	145	0	C			1840901	-1	tier1	-	no_errors	ENST00000415638	ensembl	human	known	74_37	silent	17.32	105	22	SNP	0.026	G
IGSF10	285313	genome.wustl.edu	37	3	151155309	151155310	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:151155309_151155310insT	ENST00000282466.3	-	6	7038_7039	c.7039_7040insA	c.(7039-7041)atafs	p.I2347fs	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2347	Ig-like C2-type 10.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGGCAACTATTTTTTCATTA	0.426																																																	0																																										SO:0001589	frameshift_variant	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7040dupA	3.37:g.151155315_151155315dupT	ENSP00000282466:p.Ile2347fs		Q86YJ9|Q8N772|Q8NA84	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I2347fs	ENST00000282466.3	37	c.7040_7039	CCDS3160.1	3																																																																																			IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000152580		0.426	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1		0.00	9	0	-	NM_178822		151155310	-1	tier1		no_errors	ENST00000282466	ensembl	human	known	74_37	frame_shift_ins	25.00	15	5	INS	0.004:0.002	T
IGSF9B	22997	genome.wustl.edu	37	11	133790828	133790828	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:133790828C>T	ENST00000321016.8	-	18	3022	c.2792G>A	c.(2791-2793)cGg>cAg	p.R931Q	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R931Q			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	931	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGCTGGAACCGAGGGCTGTA	0.711																																																	0													36.0	43.0	41.0					11																	133790828		1998	4146	6144	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2792G>A	11.37:g.133790828C>T	ENSP00000317980:p.Arg931Gln		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R931Q	ENST00000321016.8	37	c.2792		11	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379779	0.82682	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.71698	-0.27;-0.59	4.44	4.44	0.53790	.	0.000000	0.40818	N	0.001010	T	0.75213	0.3819	L	0.29908	0.895	0.45076	D	0.998096	D	0.69078	0.997	D	0.67725	0.953	T	0.76217	-0.3040	10	0.42905	T	0.14	.	16.8612	0.86019	0.0:1.0:0.0:0.0	.	931	Q9UPX0	TUTLB_HUMAN	Q	931;773	ENSP00000317980:R931Q;ENSP00000436552:R773Q	ENSP00000317980:R931Q	R	-	2	0	IGSF9B	133296038	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.598000	0.67585	2.294000	0.77228	0.561000	0.74099	CGG	IGSF9B	-	NULL	ENSG00000080854		0.711	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		-	0.00	83	0	C	XM_290502		133790828	-1	tier1	-	no_errors	ENST00000321016	ensembl	human	known	74_37	missense	19.40	54	13	SNP	1.000	T
IGSF9B	22997	genome.wustl.edu	37	11	133802093	133802093	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:133802093A>G	ENST00000321016.8	-	8	1213	c.983T>C	c.(982-984)cTc>cCc	p.L328P	IGSF9B_ENST00000533871.2_Missense_Mutation_p.L328P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	328	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGCATGTTGAGGACACGCGC	0.592																																																	0													46.0	57.0	54.0					11																	133802093		2175	4264	6439	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.983T>C	11.37:g.133802093A>G	ENSP00000317980:p.Leu328Pro		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L328P	ENST00000321016.8	37	c.983		11	.	.	.	.	.	.	.	.	.	.	A	15.93	2.979010	0.53827	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.21734	1.99;1.99;1.99	4.89	4.89	0.63831	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28200	0.0696	M	0.74467	2.265	0.80722	D	1	B	0.12630	0.006	B	0.23018	0.043	T	0.05419	-1.0886	9	0.35671	T	0.21	.	14.6719	0.68951	1.0:0.0:0.0:0.0	.	328	Q9UPX0	TUTLB_HUMAN	P	328;170;328	ENSP00000317980:L328P;ENSP00000436552:L170P;ENSP00000436576:L328P	ENSP00000317980:L328P	L	-	2	0	IGSF9B	133307303	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.136000	0.94489	2.051000	0.60960	0.454000	0.30748	CTC	IGSF9B	-	pfscan_Ig-like_dom	ENSG00000080854		0.592	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding			0.00	17	0	A	XM_290502		133802093	-1			no_errors	ENST00000321016	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	G
IKZF1	10320	genome.wustl.edu	37	7	50455091	50455091	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:50455091G>A	ENST00000331340.3	+	6	793	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.R126Q|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.R126Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000439701.1_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	213					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TATAAACAGCGAAGCTCTTTA	0.493			"""D,T"""	BCL6	"""ALL, DLBCL"""																																			"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)											47.0	49.0	48.0					7																	50455091		1863	4100	5963	SO:0001583	missense	0			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.638G>A	7.37:g.50455091G>A	ENSP00000331614:p.Arg213Gln		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R213Q	ENST00000331340.3	37	c.638		7	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798786	0.70567	.	.	ENSG00000185811	ENST00000343574;ENST00000331340;ENST00000438033	T;T;T	0.60920	2.42;0.15;2.42	5.77	5.77	0.91146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60012	0.867;0.732	T	0.68595	-0.5367	9	0.33940	T	0.23	-15.7331	19.9886	0.97358	0.0:0.0:1.0:0.0	.	126;213	Q13422-2;Q13422	.;IKZF1_HUMAN	Q	126;213;126	ENSP00000342750:R126Q;ENSP00000331614:R213Q;ENSP00000396554:R126Q	ENSP00000331614:R213Q	R	+	2	0	IKZF1	50422585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.717000	0.74707	2.726000	0.93360	0.655000	0.94253	CGA	IKZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185811		0.493	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	-	0.00	55	0	G	NM_006060		50455091	+1	tier1	-	no_errors	ENST00000331340	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	A
IL17B	27190	genome.wustl.edu	37	5	148754055	148754055	+	Silent	SNP	G	G	A	rs369715279		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:148754055G>A	ENST00000261796.3	-	3	470	c.420C>T	c.(418-420)agC>agT	p.S140S	RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	140					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACCGGCACGCTCACCATGC	0.697																																																	0								G		0,4404		0,0,2202	35.0	35.0	35.0		420	2.0	1.0	5		35	2,8598		0,2,4298	no	coding-synonymous	IL17B	NM_014443.2		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		140/181	148754055	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	0			AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.420C>T	5.37:g.148754055G>A			Q14CE5	Silent	SNP	pfam_IL-17_fam,prints_IL-17_chr	p.S140	ENST00000261796.3	37	c.420	CCDS4297.1	5																																																																																			IL17B	-	pfam_IL-17_fam	ENSG00000127743		0.697	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17B	HGNC	protein_coding	OTTHUMT00000252330.1	-	0.00	37	0	G	NM_014443		148754055	-1	tier1	-	no_errors	ENST00000261796	ensembl	human	known	74_37	silent	28.12	23	9	SNP	1.000	A
IL18R1	8809	genome.wustl.edu	37	2	102988513	102988513	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:102988513T>A	ENST00000409599.1	+	5	759	c.403T>A	c.(403-405)Ttt>Att	p.F135I	IL18R1_ENST00000334376.3_Missense_Mutation_p.F135I|IL18R1_ENST00000233957.1_Missense_Mutation_p.F135I			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	135	Ig-like C2-type 2.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.F135I(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGTTAAAAAATTTTTTCAGAT	0.279																																																	1	Substitution - Missense(1)	large_intestine(1)											38.0	41.0	40.0					2																	102988513		2201	4293	6494	SO:0001583	missense	0			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.403T>A	2.37:g.102988513T>A	ENSP00000387211:p.Phe135Ile		B2R9Y5|Q52LC9	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ	p.F135I	ENST00000409599.1	37	c.403	CCDS2060.1	2	.	.	.	.	.	.	.	.	.	.	T	9.598	1.127837	0.20959	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	T;T;T	0.11063	2.81;2.81;2.81	5.15	-10.3	0.00346	.	2.722080	0.00780	N	0.001266	T	0.07279	0.0184	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.042;0.038;0.042	B;B;B	0.18871	0.023;0.016;0.023	T	0.08911	-1.0699	10	0.26408	T	0.33	.	8.8123	0.34974	0.2463:0.0678:0.5784:0.1074	.	135;135;135	B7ZKV7;Q86YL8;Q13478	.;.;IL18R_HUMAN	I	135	ENSP00000386663:F135I;ENSP00000387211:F135I;ENSP00000233957:F135I	ENSP00000233957:F135I	F	+	1	0	IL18R1	102354945	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.607000	0.00416	-3.487000	0.00154	-0.466000	0.05196	TTT	IL18R1	-	smart_Ig_sub	ENSG00000115604		0.279	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18R1	HGNC	protein_coding	OTTHUMT00000253294.2	-	0.00	66	0	T	NM_003855		102988513	+1	tier1	-	no_errors	ENST00000233957	ensembl	human	known	74_37	missense	29.41	35	15	SNP	0.000	A
IL6	3569	genome.wustl.edu	37	7	22767197	22767197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:22767197C>T	ENST00000404625.1	+	3	613	c.154C>T	c.(154-156)Cga>Tga	p.R52*	AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Nonsense_Mutation_p.R52*|IL6_ENST00000420258.2_Nonsense_Mutation_p.R106*|IL6_ENST00000406575.1_Nonsense_Mutation_p.R52*|IL6_ENST00000401651.1_Intron|IL6_ENST00000401630.3_Nonsense_Mutation_p.R29*|IL6_ENST00000407492.1_Intron			P05231	IL6_HUMAN	interleukin 6	52					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	CTCTTCAGAACGAATTGACAA	0.582																																					Esophageal Squamous(47;342 1214 13936 33513)												0													111.0	105.0	107.0					7																	22767197		2203	4300	6503	SO:0001587	stop_gained	0			M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.154C>T	7.37:g.22767197C>T	ENSP00000385675:p.Arg52*		Q9UCU2|Q9UCU3|Q9UCU4	Nonsense_Mutation	SNP	pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,prints_IL-6,prints_IL-6/IL-23/GCSF/MGF	p.R106*	ENST00000404625.1	37	c.316	CCDS5375.1	7	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393997	0.83011	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	.	.	.	5.73	-1.91	0.07641	.	1.022770	0.07765	N	0.950804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-3.5473	9.2494	0.37547	0.4257:0.4867:0.0:0.0876	.	.	.	.	X	52;52;52;106;29;52	.	ENSP00000258743:R52X	R	+	1	2	IL6	22733722	0.001000	0.12720	0.000000	0.03702	0.048000	0.14542	0.465000	0.22004	0.005000	0.14708	0.555000	0.69702	CGA	IL6	-	superfamily_4_helix_cytokine-like_core	ENSG00000136244		0.582	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6	HGNC	protein_coding	OTTHUMT00000250225.2	-	0.00	67	0	C	NM_000600		22767197	+1	tier1	-	no_errors	ENST00000420258	ensembl	human	known	74_37	nonsense	31.67	41	19	SNP	0.000	T
ILF3	3609	genome.wustl.edu	37	19	10789292	10789292	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10789292C>T	ENST00000590261.1	+	5	563	c.563C>T	c.(562-564)aCg>aTg	p.T188M	ILF3_ENST00000589998.1_Missense_Mutation_p.T188M|ILF3_ENST00000588657.1_Missense_Mutation_p.T188M|ILF3_ENST00000407004.3_Missense_Mutation_p.T188M|ILF3_ENST00000592763.1_Missense_Mutation_p.T188M|ILF3_ENST00000318511.3_Missense_Mutation_p.T188M|ILF3_ENST00000250241.8_Missense_Mutation_p.T188M|ILF3_ENST00000420083.1_Missense_Mutation_p.T188M|ILF3_ENST00000449870.1_Missense_Mutation_p.T188M			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	188	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGAATAGAAACGCTATCAGTC	0.527																																																	0													92.0	81.0	85.0					19																	10789292		2203	4300	6503	SO:0001583	missense	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.563C>T	19.37:g.10789292C>T	ENSP00000468156:p.Thr188Met		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.T188M	ENST00000590261.1	37	c.563	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988596	0.74589	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.95	3.84	0.44239	DZF (2);	0.323122	0.31461	N	0.007614	T	0.63474	0.2514	M	0.61703	1.905	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.77004	0.911;0.982;0.989;0.931;0.938;0.966	T	0.64871	-0.6305	10	0.66056	D	0.02	.	11.7737	0.51972	0.0:0.8559:0.0:0.1441	.	188;188;188;188;188;188	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	M	188	ENSP00000404121:T188M;ENSP00000315205:T188M;ENSP00000405436:T188M;ENSP00000384660:T188M;ENSP00000250241:T188M	ENSP00000250241:T188M	T	+	2	0	ILF3	10650292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.602000	0.46257	0.859000	0.35456	-0.140000	0.14226	ACG	ILF3	-	pfam_DZF,smart_DZF	ENSG00000129351		0.527	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	-	0.00	41	0	C			10789292	+1	tier1	-	no_errors	ENST00000449870	ensembl	human	known	74_37	missense	44.12	19	15	SNP	1.000	T
IMMP2L	83943	genome.wustl.edu	37	7	110303715	110303715	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:110303715C>T	ENST00000405709.2	-	6	913	c.471G>A	c.(469-471)caG>caA	p.Q157Q	IMMP2L_ENST00000450877.1_Silent_p.Q139Q|IMMP2L_ENST00000415362.1_Silent_p.Q157Q|IMMP2L_ENST00000452895.1_Silent_p.Q157Q|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000331762.3_Silent_p.Q157Q	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	157					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		ATTCCAATTTCTGCCAGCGCT	0.478																																																	0													75.0	75.0	75.0					7																	110303715		2203	4300	6503	SO:0001819	synonymous_variant	0			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.471G>A	7.37:g.110303715C>T			Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.Q157	ENST00000405709.2	37	c.471	CCDS5753.1	7																																																																																			IMMP2L	-	superfamily_Peptidase_S24_S26A/B/C	ENSG00000184903		0.478	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP2L	HGNC	protein_coding	OTTHUMT00000338109.4	-	0.00	48	0	C	NM_032549		110303715	-1	tier1	-	no_errors	ENST00000331762	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.998	T
UBA1	7317	genome.wustl.edu	37	X	47065253	47065253	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:47065253delA	ENST00000335972.6	+	15	1758				UBA1_ENST00000490869.1_Intron|INE1_ENST00000456273.1_RNA|UBA1_ENST00000377269.3_5'Flank|UBA1_ENST00000377351.4_Intron	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1						cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						accctgtctcaaaaaaaataa	0.488																																																	0																																										SO:0001627	intron_variant	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1576-94A>-	X.37:g.47065253delA			Q5JRR8|Q96E13	RNA	DEL	-	NULL	ENST00000335972.6	37	NULL	CCDS14275.1	X																																																																																			INE1	-	-	ENSG00000224975		0.488	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INE1	HGNC	protein_coding	OTTHUMT00000056389.1		0.00	60	0	A	NM_003334		47065253	+1	tier1		no_errors	ENST00000456273	ensembl	human	known	74_37	rna	18.00	41	9	DEL	0.098	-
ING3	54556	genome.wustl.edu	37	7	120606729	120606729	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:120606729T>C	ENST00000315870.5	+	6	562	c.414T>C	c.(412-414)gcT>gcC	p.A138A	ING3_ENST00000431467.1_Silent_p.A123A	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	138					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ATCACCATGCTCATTCACATA	0.368																																																	0													212.0	192.0	199.0					7																	120606729		2203	4300	6503	SO:0001819	synonymous_variant	0			AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.414T>C	7.37:g.120606729T>C			A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A138	ENST00000315870.5	37	c.414	CCDS5778.1	7																																																																																			ING3	-	NULL	ENSG00000071243		0.368	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING3	HGNC	protein_coding	OTTHUMT00000280453.2	-	0.00	88	0	T	NM_019071		120606729	+1	tier1	-	no_errors	ENST00000315870	ensembl	human	known	74_37	silent	8.97	71	7	SNP	0.995	C
INO80E	283899	genome.wustl.edu	37	16	30016653	30016653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:30016653delC	ENST00000563197.1	+	7	1642	c.625delC	c.(625-627)cccfs	p.P211fs	INO80E_ENST00000567705.1_Frame_Shift_Del_p.P194fs|INO80E_ENST00000304516.7_Frame_Shift_Del_p.P172fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	211	Pro-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.T212fs*3(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CCCTAAGATGCCCCCCCCCAC	0.672																																																	1	Deletion - Frameshift(1)	large_intestine(1)								76,238,3860		1,0,74,7,224,1781	15.0	13.0	13.0			4.9	1.0	16		13	126,491,7513		2,2,120,10,469,3462	no	codingComplex	INO80E	NM_173618.1		3,2,194,17,693,5243	A1A1,A1A2,A1R,A2A2,A2R,RR		7.5892,7.5228,7.5666			30016653	202,729,11373	2173	4255	6428	SO:0001589	frameshift_variant	0			AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.625delC	16.37:g.30016653delC	ENSP00000457016:p.Pro211fs		Q6Y2K3	Frame_Shift_Del	DEL	NULL	p.T212fs	ENST00000563197.1	37	c.625	CCDS10665.1	16																																																																																			INO80E	-	NULL	ENSG00000169592		0.672	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80E	HGNC	protein_coding	OTTHUMT00000255156.2		0.00	29	0	C	NM_173618		30016653	+1	tier1		no_errors	ENST00000563197	ensembl	human	known	74_37	frame_shift_del	44.83	16	13	DEL	1.000	-
INPP4B	8821	genome.wustl.edu	37	4	143067033	143067033	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:143067033C>A	ENST00000513000.1	-	19	2113	c.1680G>T	c.(1678-1680)aaG>aaT	p.K560N	INPP4B_ENST00000509777.1_Missense_Mutation_p.K560N|INPP4B_ENST00000262992.4_Missense_Mutation_p.K560N|INPP4B_ENST00000508116.1_Missense_Mutation_p.K560N|INPP4B_ENST00000308502.4_Missense_Mutation_p.K560N	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	560					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATGAAGGTTCCTTTTCTCCAT	0.413																																																	0													190.0	164.0	173.0					4																	143067033		2203	4300	6503	SO:0001583	missense	0			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1680G>T	4.37:g.143067033C>A	ENSP00000425487:p.Lys560Asn		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_dom	p.K560N	ENST00000513000.1	37	c.1680	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	C	1.338	-0.594873	0.03771	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.75	2.93	0.34026	.	0.633271	0.16507	N	0.211403	T	0.14787	0.0357	N	0.14661	0.345	0.19300	N	0.999979	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.19943	-1.0290	10	0.18276	T	0.48	.	6.1312	0.20207	0.3052:0.5381:0.0:0.1567	.	431;560	B7Z6T2;O15327	.;INP4B_HUMAN	N	560;560;560;431;560;560;375;375;560;431	ENSP00000425487:K560N;ENSP00000262992:K560N;ENSP00000308441:K560N;ENSP00000423954:K560N;ENSP00000422793:K560N;ENSP00000426207:K375N;ENSP00000427250:K560N;ENSP00000421065:K431N	ENSP00000262992:K560N	K	-	3	2	INPP4B	143286483	0.143000	0.22626	0.447000	0.26932	0.020000	0.10135	0.176000	0.16782	1.416000	0.47057	0.650000	0.86243	AAG	INPP4B	-	NULL	ENSG00000109452		0.413	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	-	0.00	68	0	C	NM_003866		143067033	-1	tier1	-	no_errors	ENST00000509777	ensembl	human	known	74_37	missense	13.04	80	12	SNP	0.327	A
INPP5F	22876	genome.wustl.edu	37	10	121556338	121556339	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:121556338_121556339insC	ENST00000361976.2	+	7	947_948	c.781_782insC	c.(781-783)accfs	p.T261fs	INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.T261fs	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGCCCAGAGACCCCCCCTCAG	0.48																																																	0										4,4260		0,4,2128						5.8	1.0			82	0,8254		0,0,4127	no	frameshift	INPP5F	NM_014937.3		0,4,6255	A1A1,A1R,RR		0.0,0.0938,0.032				4,12514				SO:0001589	frameshift_variant	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.788dupC	10.37:g.121556345_121556345dupC	ENSP00000354519:p.Thr261fs		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Frame_Shift_Ins	INS	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.Q264fs	ENST00000361976.2	37	c.781_782	CCDS7616.1	10																																																																																			INPP5F	-	pfam_Syja_N,pfscan_Syja_N	ENSG00000198825		0.480	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1		0.00	69	0	-	NM_014937		121556339	+1	tier1		no_errors	ENST00000361976	ensembl	human	known	74_37	frame_shift_ins	32.31	44	21	INS	1.000:1.000	C
INSRR	3645	genome.wustl.edu	37	1	156814636	156814636	+	Splice_Site	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156814636C>A	ENST00000368195.3	-	13	2834		c.e13-1		NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor						actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAGCCTCTCCTGCGGGAAGG	0.582																																																	0													41.0	44.0	43.0					1																	156814636		2203	4300	6503	SO:0001630	splice_region_variant	0			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2438-1G>T	1.37:g.156814636C>A			O60724|Q5VZS3	Splice_Site	SNP	-	e13-1	ENST00000368195.3	37	c.2438-1	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738186	0.69304	.	.	ENSG00000027644	ENST00000368195	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1984	0.59752	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INSRR	155081260	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.181000	0.77682	2.181000	0.69327	0.467000	0.42956	.	INSRR	-	-	ENSG00000027644		0.582	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	-	0.00	22	0	C	NM_014215	Intron	156814636	-1	tier1	-	no_errors	ENST00000368195	ensembl	human	known	74_37	splice_site	27.27	8	3	SNP	1.000	A
INSRR	3645	genome.wustl.edu	37	1	156814956	156814956	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156814956G>A	ENST00000368195.3	-	12	2745	c.2349C>T	c.(2347-2349)taC>taT	p.Y783Y	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	783					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTCGATCCGGTATTCCGTGA	0.662																																																	0													30.0	24.0	26.0					1																	156814956		2203	4300	6503	SO:0001819	synonymous_variant	0			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2349C>T	1.37:g.156814956G>A			O60724|Q5VZS3	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.Y783	ENST00000368195.3	37	c.2349	CCDS1160.1	1																																																																																			INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000027644		0.662	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	-	0.00	89	0	G	NM_014215		156814956	-1	tier1	-	no_errors	ENST00000368195	ensembl	human	known	74_37	silent	32.05	53	25	SNP	1.000	A
INTS1	26173	genome.wustl.edu	37	7	1533447	1533447	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:1533447C>T	ENST00000404767.3	-	15	2096	c.2011G>A	c.(2011-2013)Gac>Aac	p.D671N	INTS1_ENST00000389470.4_Missense_Mutation_p.D799N	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	671					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCATGGCGTCCGCAGGCCCG	0.667																																																	0													13.0	19.0	17.0					7																	1533447		2036	4163	6199	SO:0001583	missense	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2011G>A	7.37:g.1533447C>T	ENSP00000385722:p.Asp671Asn		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.D799N	ENST00000404767.3	37	c.2395	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083925	0.76642	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.71817	-0.6;-0.6	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	L	0.38175	1.15	0.80722	D	1	B;P	0.41710	0.264;0.76	B;P	0.48304	0.253;0.573	T	0.72204	-0.4361	10	0.45353	T	0.12	.	18.3788	0.90443	0.0:1.0:0.0:0.0	.	799;671	A4D213;Q8N201	.;INT1_HUMAN	N	671;799	ENSP00000385722:D671N;ENSP00000374121:D799N	ENSP00000374121:D799N	D	-	1	0	INTS1	1499973	1.000000	0.71417	0.471000	0.27229	0.425000	0.31504	7.758000	0.85224	2.324000	0.78689	0.561000	0.74099	GAC	INTS1	-	NULL	ENSG00000164880		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	-	0.00	98	0	C			1533447	-1	tier1	-	no_errors	ENST00000389470	ensembl	human	known	74_37	missense	15.66	70	13	SNP	0.997	T
INTS4L2	644619	genome.wustl.edu	37	7	65171357	65171357	+	RNA	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:65171357G>A	ENST00000430126.2	+	0	1347							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		CTGCCCCTTCGTATTTGAAGC	0.488																																																	0																																												0			BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65171357G>A				RNA	SNP	-	NULL	ENST00000430126.2	37	NULL		7																																																																																			INTS4L2	-	-	ENSG00000232270		0.488	INTS4L2-002	KNOWN	basic	processed_transcript	INTS4L2	HGNC	pseudogene	OTTHUMT00000345545.2	-	0.00	48	0	G	NR_027392		65171357	+1	tier1	-	no_errors	ENST00000430126	ensembl	human	known	74_37	rna	40.82	29	20	SNP	0.963	A
INTS9	55756	genome.wustl.edu	37	8	28628531	28628531	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:28628531G>A	ENST00000521022.1	-	15	1711	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L	INTS9_ENST00000416984.2_Silent_p.L523L|INTS9_ENST00000521777.1_Silent_p.L520L|INTS9_ENST00000397363.4_Silent_p.L438L	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	544					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TTGGTGTGCAGCACGGCCGAG	0.582																																																	0													70.0	62.0	65.0					8																	28628531		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1630C>T	8.37:g.28628531G>A			B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	pfam_Beta_Casp	p.L544	ENST00000521022.1	37	c.1630	CCDS34873.1	8																																																																																			INTS9	-	NULL	ENSG00000104299		0.582	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS9	HGNC	protein_coding	OTTHUMT00000376846.1	-	0.00	50	0	G	NM_018250		28628531	-1	tier1	-	no_errors	ENST00000521022	ensembl	human	known	74_37	silent	16.98	43	9	SNP	1.000	A
INVS	27130	genome.wustl.edu	37	9	102992043	102992043	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:102992043G>T	ENST00000262457.2	+	5	734	c.549G>T	c.(547-549)aaG>aaT	p.K183N	INVS_ENST00000460636.2_3'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.K183N|INVS_ENST00000541287.1_Missense_Mutation_p.K87N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	183					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTGAAGGCAAGATCCCACTTC	0.468																																																	0													145.0	114.0	125.0					9																	102992043		2203	4300	6503	SO:0001583	missense	0			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.549G>T	9.37:g.102992043G>T	ENSP00000262457:p.Lys183Asn		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.K183N	ENST00000262457.2	37	c.549	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270313	0.80469	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.68331	-0.31;-0.32;-0.31	5.51	4.62	0.57501	Ankyrin repeat-containing domain (3);	0.089528	0.85682	D	0.000000	T	0.64182	0.2575	N	0.12502	0.225	0.58432	D	0.999994	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.72338	0.977;0.958;0.977	T	0.65829	-0.6073	10	0.45353	T	0.12	.	9.1783	0.37125	0.2089:0.0:0.7911:0.0	.	87;183;183	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	N	183;87;183	ENSP00000262457:K183N;ENSP00000444454:K87N;ENSP00000262456:K183N	ENSP00000262456:K183N	K	+	3	2	INVS	102031864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.475000	0.60210	1.327000	0.45338	0.585000	0.79938	AAG	INVS	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000119509		0.468	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	-	0.00	31	0	G	NM_014425		102992043	+1	tier1	-	no_errors	ENST00000262457	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	T
IP6K3	117283	genome.wustl.edu	37	6	33696073	33696073	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:33696073G>T	ENST00000293756.4	-	3	530	c.204C>A	c.(202-204)acC>acA	p.T68T	IP6K3_ENST00000451316.1_Silent_p.T68T	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	68					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GCACTGTGACGGTACCTGCAA	0.562																																																	0													59.0	54.0	55.0					6																	33696073		2203	4300	6503	SO:0001819	synonymous_variant	0			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.204C>A	6.37:g.33696073G>T			Q96MQ9	Silent	SNP	pfam_IPK	p.T68	ENST00000293756.4	37	c.204	CCDS34435.1	6																																																																																			IP6K3	-	NULL	ENSG00000161896		0.562	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	HGNC	protein_coding	OTTHUMT00000040203.1		0.00	31	0	G	NM_054111		33696073	-1			no_errors	ENST00000293756	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.151	T
IQGAP2	10788	genome.wustl.edu	37	5	75967685	75967685	+	Missense_Mutation	SNP	G	G	A	rs537445542		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:75967685G>A	ENST00000274364.6	+	24	3242	c.2945G>A	c.(2944-2946)cGc>cAc	p.R982H	IQGAP2_ENST00000379730.3_Missense_Mutation_p.R484H|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R478H|IQGAP2_ENST00000396234.3_Missense_Mutation_p.R478H	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	982	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.R982H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AACACCCTGCGCCAACTCCTG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		15934	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											70.0	72.0	71.0					5																	75967685		2203	4300	6503	SO:0001583	missense	0			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2945G>A	5.37:g.75967685G>A	ENSP00000274364:p.Arg982His		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.R982H	ENST00000274364.6	37	c.2945	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.606284	0.96626	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.81	5.81	0.92471	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.046965	0.85682	D	0.000000	D	0.91533	0.7326	M	0.86420	2.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.934;0.986;0.954;0.96	D	0.92164	0.5738	10	0.87932	D	0	-11.2809	20.0557	0.97650	0.0:0.0:1.0:0.0	.	484;932;478;982	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	H	982;484;932;478;478	ENSP00000274364:R982H;ENSP00000442313:R484H;ENSP00000421097:R932H;ENSP00000379535:R478H;ENSP00000426027:R478H	ENSP00000274364:R982H	R	+	2	0	IQGAP2	76003441	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.062000	0.89475	2.741000	0.93983	0.591000	0.81541	CGC	IQGAP2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145703		0.498	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	-	0.00	58	0	G	NM_006633		75967685	+1	tier1	-	no_errors	ENST00000274364	ensembl	human	known	74_37	missense	24.49	37	12	SNP	1.000	A
IQGAP3	128239	genome.wustl.edu	37	1	156509223	156509223	+	Missense_Mutation	SNP	C	C	T	rs111494634	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156509223C>T	ENST00000361170.2	-	25	3009	c.2999G>A	c.(2998-3000)cGc>cAc	p.R1000H	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1000	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCTCTCGGCGGCTGGAGGC	0.512																																																	0								C	HIS/ARG	0,4406		0,0,2203	56.0	57.0	57.0		2999	2.9	1.0	1	dbSNP_132	57	4,8596	3.7+/-12.6	0,4,4296	yes	missense	IQGAP3	NM_178229.4	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	1000/1632	156509223	4,13002	2203	4300	6503	SO:0001583	missense	0			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2999G>A	1.37:g.156509223C>T	ENSP00000354451:p.Arg1000His		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.R1000H	ENST00000361170.2	37	c.2999	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306568	0.40795	0.0	4.65E-4	ENSG00000183856	ENST00000361170	T	0.02812	4.15	4.8	2.87	0.33458	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.373078	0.30464	N	0.009562	T	0.01092	0.0036	L	0.52364	1.645	0.38092	D	0.936984	P	0.43024	0.798	B	0.35182	0.197	T	0.59289	-0.7482	10	0.56958	D	0.05	-1.8504	4.8466	0.13516	0.1533:0.6128:0.1489:0.085	.	1000	Q86VI3	IQGA3_HUMAN	H	1000	ENSP00000354451:R1000H	ENSP00000354451:R1000H	R	-	2	0	IQGAP3	154775847	0.650000	0.27331	0.997000	0.53966	0.996000	0.88848	0.678000	0.25277	0.581000	0.29539	0.655000	0.94253	CGC	IQGAP3	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000183856		0.512	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	-	0.00	38	0	C	NM_178229		156509223	-1	tier1	rs111494634	no_errors	ENST00000361170	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.997	T
IRAK4	51135	genome.wustl.edu	37	12	44180243	44180243	+	Silent	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:44180243T>A	ENST00000448290.2	+	11	1301	c.1230T>A	c.(1228-1230)atT>atA	p.I410I	IRAK4_ENST00000440781.2_Silent_p.I286I|IRAK4_ENST00000431837.1_Silent_p.I286I|IRAK4_ENST00000551736.1_Silent_p.I410I	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	410	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AAAAGACAATTGAAGATTATA	0.279																																																	0													43.0	50.0	47.0					12																	44180243		2203	4291	6494	SO:0001819	synonymous_variant	0			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1230T>A	12.37:g.44180243T>A			Q69FE1|Q8TDF7|Q9Y589	Silent	SNP	pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I410	ENST00000448290.2	37	c.1230	CCDS8744.1	12																																																																																			IRAK4	-	pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000198001		0.279	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK4	HGNC	protein_coding	OTTHUMT00000403947.1	-	0.00	24	0	T			44180243	+1	tier1	-	no_errors	ENST00000448290	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.968	A
IREB2	3658	genome.wustl.edu	37	15	78762887	78762887	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:78762887T>C	ENST00000258886.8	+	6	792	c.643T>C	c.(643-645)Tta>Cta	p.L215L	IREB2_ENST00000560440.1_Silent_p.L215L|IREB2_ENST00000559427.1_3'UTR	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	215					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGAAACAGTGTTAAAAAATCA	0.318																																					NSCLC(200;764 2208 35157 49871 50830)												0													101.0	101.0	101.0					15																	78762887		2196	4293	6489	SO:0001819	synonymous_variant	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.643T>C	15.37:g.78762887T>C			A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.L215	ENST00000258886.8	37	c.643	CCDS10302.1	15																																																																																			IREB2	-	superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000136381		0.318	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	-	0.00	82	0	T	NM_004136		78762887	+1	tier1	-	no_errors	ENST00000258886	ensembl	human	known	74_37	silent	8.86	72	7	SNP	1.000	C
IRF4	3662	genome.wustl.edu	37	6	401645	401645	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:401645G>A	ENST00000380956.4	+	7	1093	c.967G>A	c.(967-969)Ggg>Agg	p.G323R		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	323					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G323R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGCCCCCGACGGGCTCTATGC	0.612			T	IGH@	MM																																			Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	1	Substitution - Missense(1)	large_intestine(1)											46.0	48.0	47.0					6																	401645		2203	4300	6503	SO:0001583	missense	0			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.967G>A	6.37:g.401645G>A	ENSP00000370343:p.Gly323Arg		Q5VUI7|Q99660	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.G323R	ENST00000380956.4	37	c.967	CCDS4469.1	6	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833109	0.91036	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.96522	-4.04	5.76	5.76	0.90799	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	M	0.85373	2.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98264	1.0500	10	0.56958	D	0.05	-32.0017	19.9857	0.97347	0.0:0.0:1.0:0.0	.	323;353;322;323	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	R	323;352	ENSP00000370343:G323R	ENSP00000370343:G323R	G	+	1	0	IRF4	346645	1.000000	0.71417	0.985000	0.45067	0.615000	0.37417	9.414000	0.97362	2.706000	0.92434	0.655000	0.94253	GGG	IRF4	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000137265		0.612	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF4	HGNC	protein_coding	OTTHUMT00000043638.1	-	0.00	47	0	G			401645	+1	tier1	-	no_errors	ENST00000380956	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A
IRS4	8471	genome.wustl.edu	37	X	107977803	107977803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:107977803delC	ENST00000372129.2	-	1	1848	c.1772delG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGAGCCTTTGCCCCCCCCAGA	0.542																																																	0													178.0	181.0	180.0					X																	107977803		2203	4300	6503	SO:0001589	frameshift_variant	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1772delG	X.37:g.107977803delC	ENSP00000361202:p.Gly591fs			Frame_Shift_Del	DEL	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.G591fs	ENST00000372129.2	37	c.1772	CCDS14544.1	X																																																																																			IRS4	-	NULL	ENSG00000133124		0.542	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1		0.00	49	0	C	NM_003604		107977803	-1	tier1		no_errors	ENST00000372129	ensembl	human	known	74_37	frame_shift_del	12.00	22	3	DEL	0.016	-
IRX4	50805	genome.wustl.edu	37	5	1878502	1878502	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:1878502C>T	ENST00000505790.1	-	6	1597	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	IRX4_ENST00000513692.1_Missense_Mutation_p.A381T|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000231357.2_Missense_Mutation_p.A381T	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	381	Poly-Ala.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GAggtggcggcggcggcggcg	0.741																																																	0													2.0	4.0	4.0					5																	1878502		1603	3318	4921	SO:0001583	missense	0			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.1141G>A	5.37:g.1878502C>T	ENSP00000423161:p.Ala381Thr		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A381T	ENST00000505790.1	37	c.1141	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	N	7.511	0.654616	0.14580	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	T;T;T	0.67171	-0.25;-0.25;-0.25	2.22	2.22	0.28083	.	.	.	.	.	T	0.41026	0.1141	N	0.08118	0	0.22424	N	0.99911	B	0.10296	0.003	B	0.04013	0.001	T	0.21861	-1.0233	9	0.34782	T	0.22	.	4.2285	0.10592	0.0:0.1728:0.0:0.8272	.	381	P78413	IRX4_HUMAN	T	381	ENSP00000231357:A381T;ENSP00000423161:A381T;ENSP00000424235:A381T	ENSP00000231357:A381T	A	-	1	0	IRX4	1931502	1.000000	0.71417	0.663000	0.29738	0.081000	0.17604	2.669000	0.46825	0.291000	0.22468	-0.593000	0.04111	GCC	IRX4	-	NULL	ENSG00000113430		0.741	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	-	0.00	28	0	C	NM_016358		1878502	-1	tier1	-	no_errors	ENST00000231357	ensembl	human	known	74_37	missense	20.00	19	5	SNP	0.771	T
ISG20L2	81875	genome.wustl.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)ctcfs	p.L289fs	ISG20L2_ENST00000472824.2_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557																																																	0													82.0	86.0	85.0					1																	156694023		2203	4300	6503	SO:0001589	frameshift_variant	0			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.865delC	1.37:g.156694023delG	ENSP00000323424:p.Leu289fs		D3DVC6|Q64KA2	Frame_Shift_Del	DEL	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L289fs	ENST00000313146.6	37	c.865	CCDS1153.1	1																																																																																			ISG20L2	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000143319		0.557	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG20L2	HGNC	protein_coding	OTTHUMT00000098969.1		0.00	82	0	G	NM_030980		156694023	-1	tier1		no_errors	ENST00000313146	ensembl	human	known	74_37	frame_shift_del	37.10	39	23	DEL	0.997	-
ITFG2	55846	genome.wustl.edu	37	12	2932038	2932038	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:2932038C>T	ENST00000228799.2	+	10	1166	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	ITFG2_ENST00000542548.1_Missense_Mutation_p.R231C|ITFG2_ENST00000419778.2_Missense_Mutation_p.R166C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	343					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CACCGTCGTCCGCTTCCAAGT	0.522																																																	0													147.0	111.0	123.0					12																	2932038		2203	4300	6503	SO:0001583	missense	0			AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.1027C>T	12.37:g.2932038C>T	ENSP00000228799:p.Arg343Cys		A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	pfam_FG-GAP,superfamily_WD40_repeat_dom	p.R343C	ENST00000228799.2	37	c.1027	CCDS8513.1	12	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339539	0.81911	.	.	ENSG00000111203	ENST00000228799;ENST00000419778;ENST00000542548	T;T;T	0.70749	-0.51;2.29;2.29	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.82139	0.4972	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84155	0.0425	10	0.87932	D	0	-1.7584	12.7649	0.57386	0.1752:0.8248:0.0:0.0	.	343	Q969R8	ITFG2_HUMAN	C	343;166;231	ENSP00000228799:R343C;ENSP00000401103:R166C;ENSP00000437870:R231C	ENSP00000228799:R343C	R	+	1	0	ITFG2	2802299	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	4.064000	0.57506	2.268000	0.75426	0.561000	0.74099	CGC	ITFG2	-	superfamily_WD40_repeat_dom	ENSG00000111203		0.522	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG2	HGNC	protein_coding	OTTHUMT00000253091.1	-	0.00	64	0	C	NM_018463		2932038	+1	tier1	-	no_errors	ENST00000228799	ensembl	human	known	74_37	missense	7.27	49	4	SNP	1.000	T
ITGA11	22801	genome.wustl.edu	37	15	68695277	68695277	+	Silent	SNP	G	G	A	rs377373505		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:68695277G>A	ENST00000315757.7	-	2	230	c.144C>T	c.(142-144)caC>caT	p.H48H	ITGA11_ENST00000423218.2_Silent_p.H48H	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	48					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CACTGATGTCGTGCTGCTGCA	0.627																																																	0								G		0,4184		0,0,2092	49.0	55.0	53.0		144	-1.9	1.0	15		53	4,8424		0,4,4210	no	coding-synonymous	ITGA11	NM_001004439.1		0,4,6302	AA,AG,GG		0.0475,0.0,0.0317		48/1189	68695277	4,12608	2092	4214	6306	SO:0001819	synonymous_variant	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.144C>T	15.37:g.68695277G>A			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.H48	ENST00000315757.7	37	c.144	CCDS45291.1	15																																																																																			ITGA11	-	smart_Int_alpha_beta-p	ENSG00000137809		0.627	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		-	0.00	49	0	G	NM_012211		68695277	-1	tier1	-	no_errors	ENST00000315757	ensembl	human	known	74_37	silent	14.58	41	7	SNP	0.996	A
ITGA6	3655	genome.wustl.edu	37	2	173368930	173368931	+	Frame_Shift_Ins	INS	-	-	A	rs201055917	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:173368930_173368931insA	ENST00000264106.6	+	26	3546_3547	c.3343_3344insA	c.(3343-3345)gaafs	p.E1115fs	ITGA6_ENST00000375221.2_3'UTR|ITGA6_ENST00000409080.1_Frame_Shift_Ins_p.E1076fs|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000409532.1_3'UTR|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000264107.7_3'UTR|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	1115					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGATAACCTTGAAAAAAAACAG	0.406													AaAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	6	0.00119808	0.0	0.0	5008	,	,		17705	0.005		0.0	False		,,,				2504	0.001																0																																										SO:0001589	frameshift_variant	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.3351dupA	2.37:g.173368938_173368938dupA	ENSP00000264106:p.Glu1115fs		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Frame_Shift_Ins	INS	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q1118fs	ENST00000264106.6	37	c.3343_3344		2																																																																																			ITGA6	-	NULL	ENSG00000091409		0.406	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding			0.00	32	0	-			173368931	+1	tier1		no_errors	ENST00000264106	ensembl	human	known	74_37	frame_shift_ins	16.22	31	6	INS	1.000:1.000	A
ITGB2	3689	genome.wustl.edu	37	21	46330514	46330514	+	Intron	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:46330514delC	ENST00000397850.2	-	3	511				ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000397852.1_Intron|ITGB2_ENST00000302347.5_Intron|ITGB2_ENST00000355153.4_Intron|ITGB2_ENST00000397846.3_Intron|ITGB2_ENST00000397857.1_Intron|ITGB2_ENST00000523126.1_5'UTR			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCCCGACCTACCCCCAGTGGC	0.632																																																	0																																										SO:0001627	intron_variant	0			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.58+125G>-	21.37:g.46330514delC			B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Splice_Site	DEL	-	NULL	ENST00000397850.2	37	c.NULL	CCDS13716.1	21																																																																																			ITGB2	-	-	ENSG00000160255		0.632	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2		0.00	128	0	C	NM_000211		46330514	-1	tier1		no_errors	ENST00000479849	ensembl	human	putative	74_37	splice_site_del	29.06	83	34	DEL	0.001	-
ITGB5	3693	genome.wustl.edu	37	3	124567295	124567295	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:124567295G>A	ENST00000296181.4	-	4	768	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	158	VWFA.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCAGGCTCCGGATATTGTCC	0.532																																																	0													141.0	126.0	131.0					3																	124567295		2203	4300	6503	SO:0001583	missense	0			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.472C>T	3.37:g.124567295G>A	ENSP00000296181:p.Arg158Trp		B0LPF8|B2RD70	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	p.R158W	ENST00000296181.4	37	c.472	CCDS3030.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.306027	0.95629	.	.	ENSG00000082781	ENST00000296181	D	0.97959	-4.63	5.42	5.42	0.78866	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.247276	0.42053	D	0.000780	D	0.98435	0.9479	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.99395	1.0926	10	0.87932	D	0	.	19.3993	0.94621	0.0:0.0:1.0:0.0	.	158	P18084	ITB5_HUMAN	W	158	ENSP00000296181:R158W	ENSP00000296181:R158W	R	-	1	2	ITGB5	126049985	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	7.713000	0.84693	2.821000	0.97095	0.561000	0.74099	CGG	ITGB5	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A	ENSG00000082781		0.532	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3		0.00	38	0	G	NM_002213		124567295	-1			no_errors	ENST00000296181	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A
ITGBL1	9358	genome.wustl.edu	37	13	102220154	102220154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:102220154C>T	ENST00000376180.3	+	3	640	c.421C>T	c.(421-423)Caa>Taa	p.Q141*	ITGBL1_ENST00000545560.2_5'UTR|ITGBL1_ENST00000376162.3_Nonsense_Mutation_p.Q48*	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	141	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAAAAGTAACCAAATGTGCAA	0.393																																																	0													149.0	138.0	142.0					13																	102220154		2203	4300	6503	SO:0001587	stop_gained	0			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.421C>T	13.37:g.102220154C>T	ENSP00000365351:p.Gln141*		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Nonsense_Mutation	SNP	pfam_EGF_extracell,smart_EG-like_dom	p.Q141*	ENST00000376180.3	37	c.421	CCDS9499.1	13	.	.	.	.	.	.	.	.	.	.	C	31	5.103982	0.94245	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000376162	.	.	.	5.29	5.29	0.74685	.	0.224065	0.45361	D	0.000361	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	13.2624	0.60113	0.0:0.7928:0.2072:0.0	.	.	.	.	X	141;49;48	.	ENSP00000365332:Q48X	Q	+	1	0	ITGBL1	101018155	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.795000	0.55499	2.640000	0.89533	0.585000	0.79938	CAA	ITGBL1	-	NULL	ENSG00000198542		0.393	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	-	0.00	58	0	C	NM_004791		102220154	+1	tier1	-	no_errors	ENST00000376180	ensembl	human	known	74_37	nonsense	18.18	45	10	SNP	1.000	T
ITIH2	3698	genome.wustl.edu	37	10	7763614	7763614	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:7763614G>A	ENST00000358415.4	+	8	907	c.741G>A	c.(739-741)gcG>gcA	p.A247A	ITIH2_ENST00000379587.4_Silent_p.A236A	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	247					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A247A(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTTTCTAGGCGCACGTCTCCT	0.577																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											130.0	117.0	122.0					10																	7763614		2203	4300	6503	SO:0001819	synonymous_variant	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.741G>A	10.37:g.7763614G>A			Q14659|Q15484|Q5T986	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.A247	ENST00000358415.4	37	c.741	CCDS31141.1	10																																																																																			ITIH2	-	NULL	ENSG00000151655		0.577	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	-	0.00	51	0	G	NM_002216		7763614	+1	tier1	-	no_errors	ENST00000358415	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.135	A
ITIH4	3700	genome.wustl.edu	37	3	52853933	52853933	+	Intron	DEL	C	C	-	rs371389224		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:52853933delC	ENST00000266041.4	-	15	2009				ITIH4_ENST00000346281.5_Intron|ITIH4_ENST00000406595.1_Intron|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Intron|ITIH4_ENST00000434759.3_Frame_Shift_Del_p.G557fs|ITIH4_ENST00000467462.1_5'Flank	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4						acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AATCTCCCCTCCCCCCACCTC	0.537																																																	0													164.0	175.0	171.0					3																	52853933		2203	4300	6503	SO:0001627	intron_variant	0			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1912+22G>-	3.37:g.52853933delC			B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Frame_Shift_Del	DEL	pfam_VWF_A,pfam_VIT,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R558fs	ENST00000266041.4	37	c.1671	CCDS2865.1	3																																																																																			ITIH4	-	NULL	ENSG00000055955		0.537	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	HGNC	protein_coding	OTTHUMT00000317715.1		0.00	62	0	C	NM_002218		52853933	-1	tier1		no_errors	ENST00000434759	ensembl	human	known	74_37	frame_shift_del	26.32	28	10	DEL	0.000	-
ITLN1	55600	genome.wustl.edu	37	1	160849201	160849202	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:160849201_160849202insC	ENST00000326245.3	-	7	803_804	c.688_689insG	c.(688-690)gaafs	p.E230fs	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	230	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGCAGTGAATTCCCCTGAAAAC	0.49																																																	0																																										SO:0001589	frameshift_variant	0			AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.689dupG	1.37:g.160849205_160849205dupC	ENSP00000323587:p.Glu230fs		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Frame_Shift_Ins	INS	superfamily_Fibrinogen_a/b/g_C_dom	p.E230fs	ENST00000326245.3	37	c.689_688	CCDS1211.1	1																																																																																			ITLN1	-	superfamily_Fibrinogen_a/b/g_C_dom	ENSG00000179914		0.490	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITLN1	HGNC	protein_coding	OTTHUMT00000071462.1		0.00	57	0	-	NM_017625		160849202	-1	tier1		no_errors	ENST00000326245	ensembl	human	known	74_37	frame_shift_ins	22.64	41	12	INS	0.193:0.194	C
ITPK1	3705	genome.wustl.edu	37	14	93429193	93429193	+	Splice_Site	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:93429193G>A	ENST00000267615.6	-	6	539	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ITPK1_ENST00000555495.1_Splice_Site_p.D3D|ITPK1_ENST00000354313.3_Splice_Site_p.D122D|ITPK1_ENST00000556603.2_Splice_Site_p.D122D|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	122	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		AGATCCTGTCGTCTAGGGCAG	0.652																																																	0													87.0	68.0	74.0					14																	93429193		2203	4300	6503	SO:0001630	splice_region_variant	0			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.365-1C>T	14.37:g.93429193G>A			Q9BTL6|Q9H2E7	Silent	SNP	pfam_Inositol_tetrakis-P_1-kinase	p.D122	ENST00000267615.6	37	c.366	CCDS9907.1	14																																																																																			ITPK1	-	pfam_Inositol_tetrakis-P_1-kinase	ENSG00000100605		0.652	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1	HGNC	protein_coding	OTTHUMT00000412421.2	-	0.00	45	0	G	NM_014216	Silent	93429193	-1	tier1	-	no_errors	ENST00000267615	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	A
ITPK1	3705	genome.wustl.edu	37	14	93534031	93534031	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:93534031delT	ENST00000267615.6	-	3	294				ITPK1_ENST00000555495.1_Intron|ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000556603.2_Intron|ITPK1-AS1_ENST00000553639.1_RNA			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		AAAAATGTGATTTTTTTTTAA	0.383																																																	0																																										SO:0001627	intron_variant	0			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.120+8908A>-	14.37:g.93534031delT			Q9BTL6|Q9H2E7	RNA	DEL	-	NULL	ENST00000267615.6	37	NULL	CCDS9907.1	14																																																																																			ITPK1-AS1	-	-	ENSG00000258730		0.383	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1-AS1	HGNC	protein_coding	OTTHUMT00000412421.2		0.00	19	0	T	NM_014216		93534031	+1	tier1		no_errors	ENST00000553639	ensembl	human	known	74_37	rna	38.46	8	5	DEL	0.000	-
ITPR1	3708	genome.wustl.edu	37	3	4829647	4829647	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:4829647G>A	ENST00000443694.2	+	49	6587	c.6587G>A	c.(6586-6588)cGa>cAa	p.R2196Q	ITPR1_ENST00000302640.8_Missense_Mutation_p.R2196Q|ITPR1_ENST00000423119.2_Missense_Mutation_p.R2163Q|ITPR1_ENST00000354582.6_Missense_Mutation_p.R2196Q|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.R2163Q|ITPR1_ENST00000456211.2_Missense_Mutation_p.R2148Q			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2211					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGATTAGACCGAACAATGGAA	0.383																																																	0													74.0	65.0	68.0					3																	4829647		1876	4118	5994	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6587G>A	3.37:g.4829647G>A	ENSP00000401671:p.Arg2196Gln		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R2196Q	ENST00000443694.2	37	c.6587	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472321	0.84533	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91521	-2.85;-2.86;-2.86;-2.86;-2.85;-2.85	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.95417	0.8512	M	0.83223	2.63	0.80722	D	1	D;D	0.76494	0.999;0.997	P;D	0.64410	0.813;0.925	D	0.95200	0.8316	10	0.52906	T	0.07	.	19.363	0.94448	0.0:0.0:1.0:0.0	.	2211;2163	Q14643;G5E9P1	ITPR1_HUMAN;.	Q	2211;2196;2196;2163;657;2163;2148;2196	ENSP00000306253:R2196Q;ENSP00000346595:R2196Q;ENSP00000405934:R2163Q;ENSP00000349597:R2163Q;ENSP00000397885:R2148Q;ENSP00000401671:R2196Q	ENSP00000306253:R2196Q	R	+	2	0	ITPR1	4804647	1.000000	0.71417	0.976000	0.42696	0.059000	0.15707	9.787000	0.99055	2.556000	0.86216	0.561000	0.74099	CGA	ITPR1	-	NULL	ENSG00000150995		0.383	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0.00	40	0	G	NM_002222		4829647	+1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	A
ITPR3	3710	genome.wustl.edu	37	6	33651920	33651920	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:33651920T>C	ENST00000374316.5	+	37	5972	c.4912T>C	c.(4912-4914)Tgc>Cgc	p.C1638R	ITPR3_ENST00000605930.1_Missense_Mutation_p.C1638R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1638					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTACCAGCGCTGCGAGAGTGG	0.672																																																	0													81.0	82.0	82.0					6																	33651920		2203	4300	6503	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4912T>C	6.37:g.33651920T>C	ENSP00000363435:p.Cys1638Arg		Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.C1638R	ENST00000374316.5	37	c.4912	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489136	0.84962	.	.	ENSG00000096433	ENST00000374316	D	0.93953	-3.32	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.95924	0.8673	M	0.86864	2.845	0.80722	D	1	D	0.59767	0.986	P	0.59546	0.859	D	0.96631	0.9467	10	0.87932	D	0	-31.2547	15.271	0.73702	0.0:0.0:0.0:1.0	.	1638	Q14573	ITPR3_HUMAN	R	1638	ENSP00000363435:C1638R	ENSP00000363435:C1638R	C	+	1	0	ITPR3	33759898	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.274000	0.72587	2.004000	0.58718	0.528000	0.53228	TGC	ITPR3	-	NULL	ENSG00000096433		0.672	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	-	0.00	78	0	T	NM_002224		33651920	+1	tier1	-	no_errors	ENST00000374316	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	C
IVL	3713	genome.wustl.edu	37	1	152882397	152882397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:152882397delC	ENST00000368764.3	+	2	188	c.124delC	c.(124-126)cccfs	p.P43fs	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	43					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCACTGCCTCCCCCATGCCA	0.552																																																	0													96.0	87.0	90.0					1																	152882397		2203	4300	6503	SO:0001589	frameshift_variant	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.124delC	1.37:g.152882397delC	ENSP00000357753:p.Pro43fs		Q5T7P4	Frame_Shift_Del	DEL	pfam_Involucrin_N,pfam_Involucrin_rpt	p.P43fs	ENST00000368764.3	37	c.124	CCDS1030.1	1																																																																																			IVL	-	pfam_Involucrin_N	ENSG00000163207		0.552	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1		0.00	47	0	C	NM_005547		152882397	+1	tier1		no_errors	ENST00000368764	ensembl	human	known	74_37	frame_shift_del	28.57	35	14	DEL	0.031	-
JAKMIP2	9832	genome.wustl.edu	37	5	147023707	147023707	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:147023707G>A	ENST00000265272.5	-	7	1605	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L380F|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L338F	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	380						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGGTCGAGGTCATTCAGA	0.383																																																	0													132.0	126.0	128.0					5																	147023707		2203	4300	6503	SO:0001583	missense	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1138C>T	5.37:g.147023707G>A	ENSP00000265272:p.Leu380Phe		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.L380F	ENST00000265272.5	37	c.1138	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185660	0.78789	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.28255	1.62;1.64;1.64	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.76838	2.35	0.58432	D	0.999996	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.48399	-0.9039	10	0.29301	T	0.29	.	14.053	0.64749	0.0724:0.0:0.9276:0.0	.	338;380;380;380	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	F	380;380;338;380	ENSP00000421398:L380F;ENSP00000265272:L380F;ENSP00000328989:L338F	ENSP00000265272:L380F	L	-	1	0	JAKMIP2	147003900	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.376000	0.66178	2.736000	0.93811	0.655000	0.94253	CTC	JAKMIP2	-	NULL	ENSG00000176049		0.383	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	-	0.00	62	0	G	NM_014790		147023707	-1	tier1	-	no_errors	ENST00000265272	ensembl	human	known	74_37	missense	18.18	54	12	SNP	1.000	A
JARID2	3720	genome.wustl.edu	37	6	15513159	15513159	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:15513159G>A	ENST00000341776.2	+	15	3393	c.3149G>A	c.(3148-3150)cGc>cAc	p.R1050H	JARID2_ENST00000397311.3_Missense_Mutation_p.R878H	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1050					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATGAAGCGTCGCCATATAGCT	0.483																																																	0													174.0	185.0	181.0					6																	15513159		2203	4300	6503	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3149G>A	6.37:g.15513159G>A	ENSP00000341280:p.Arg1050His		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.R1050H	ENST00000341776.2	37	c.3149	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948956	0.73787	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	T;T	0.70986	-0.53;-0.53	4.14	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	P	0.60609	0.877	T	0.55623	-0.8112	10	0.16896	T	0.51	-15.4311	12.0912	0.53728	0.0848:0.0:0.9152:0.0	.	1050	Q92833	JARD2_HUMAN	H	1050;878	ENSP00000341280:R1050H;ENSP00000380478:R878H	ENSP00000341280:R1050H	R	+	2	0	JARID2	15621138	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.052000	0.93855	1.088000	0.41272	0.609000	0.83330	CGC	JARID2	-	NULL	ENSG00000008083		0.483	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	-	0.00	59	0	G	NM_004973		15513159	+1	tier1	-	no_errors	ENST00000341776	ensembl	human	known	74_37	missense	18.18	45	10	SNP	1.000	A
JPH3	57338	genome.wustl.edu	37	16	87730402	87730402	+	3'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:87730402C>T	ENST00000284262.2	+	0	2625				JPH3_ENST00000563609.1_3'UTR|AC010536.1_ENST00000538868.1_5'Flank	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3						calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AAGAACCACACGATTGGGTAT	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.*136C>T	16.37:g.87730402C>T			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	RNA	SNP	-	NULL	ENST00000284262.2	37	NULL	CCDS10962.1	16																																																																																			JPH3	-	-	ENSG00000154118		0.423	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	-	0.00	76	0	C			87730402	+1	tier1	-	no_errors	ENST00000537256	ensembl	human	known	74_37	rna	16.36	46	9	SNP	0.004	T
JUP	3728	genome.wustl.edu	37	17	39925671	39925671	+	Splice_Site	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:39925671G>A	ENST00000393931.3	-	3	585	c.467C>T	c.(466-468)cCg>cTg	p.P156L	JUP_ENST00000393930.1_Splice_Site_p.P156L|JUP_ENST00000310706.5_Splice_Site_p.P156L|JUP_ENST00000540235.1_Splice_Site_p.P156L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	156	Interaction with DSC1 and DSG1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTCACAGACCGGGTCCTCGTC	0.627																																					Colon(16;42 520 6044 17852 28530)												0													17.0	18.0	17.0					17																	39925671		2200	4299	6499	SO:0001630	splice_region_variant	0			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.468+1C>T	17.37:g.39925671G>A			Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.P156L	ENST00000393931.3	37	c.467	CCDS11407.1	17	.	.	.	.	.	.	.	.	.	.	g	15.21	2.764700	0.49574	.	.	ENSG00000173801	ENST00000540235;ENST00000393930;ENST00000310706;ENST00000393931;ENST00000449889;ENST00000437187;ENST00000420370;ENST00000424457	T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.110473	0.64402	D	0.000006	T	0.14184	0.0343	N	0.25647	0.755	0.80722	D	1	P;B	0.42941	0.794;0.038	B;B	0.27796	0.083;0.005	T	0.03945	-1.0990	10	0.46703	T	0.11	-63.5869	18.4331	0.90633	0.0:0.0:1.0:0.0	.	156;156	B4DE59;P14923	.;PLAK_HUMAN	L	156	ENSP00000441751:P156L;ENSP00000377507:P156L;ENSP00000311113:P156L;ENSP00000377508:P156L;ENSP00000389886:P156L;ENSP00000394146:P156L;ENSP00000411449:P156L;ENSP00000401034:P156L	ENSP00000311113:P156L	P	-	2	0	JUP	37179197	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	4.078000	0.57606	2.593000	0.87608	0.556000	0.70494	CCG	JUP	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000173801		0.627	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257406.1	-	0.00	68	0	G		Missense_Mutation	39925671	-1	tier1	-	no_errors	ENST00000310706	ensembl	human	known	74_37	missense	21.05	60	16	SNP	1.000	A
KALRN	8997	genome.wustl.edu	37	3	124117635	124117635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:124117635C>T	ENST00000240874.3	+	13	2414	c.2257C>T	c.(2257-2259)Cag>Tag	p.Q753*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.Q753*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.Q753*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	753					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGCCCAGGTGCAGATGGAGGA	0.577																																																	0													110.0	92.0	98.0					3																	124117635		2203	4300	6503	SO:0001587	stop_gained	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2257C>T	3.37:g.124117635C>T	ENSP00000240874:p.Gln753*		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.Q753*	ENST00000240874.3	37	c.2257	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.373769	0.98781	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.9654	0.92694	0.0:1.0:0.0:0.0	.	.	.	.	X	753	.	ENSP00000240874:Q753X	Q	+	1	0	KALRN	125600325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.732000	0.93576	0.591000	0.81541	CAG	KALRN	-	smart_Spectrin/alpha-actinin	ENSG00000160145		0.577	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	-	0.00	48	0	C	NM_003947		124117635	+1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	nonsense	14.00	43	7	SNP	1.000	T
KANK1	23189	genome.wustl.edu	37	9	738311	738311	+	Silent	SNP	C	C	T	rs200250223		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:738311C>T	ENST00000382303.1	+	12	4012	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.H962H|KANK1_ENST00000382297.2_Silent_p.H1120H	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1120					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.H1120H(1)|p.H962H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCCTCCAGCACGAGTGGTTCC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18823	0.0		0.0	False		,,,				2504	0.001																2	Substitution - coding silent(2)	endometrium(2)											81.0	60.0	67.0					9																	738311		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3360C>T	9.37:g.738311C>T			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H1120	ENST00000382303.1	37	c.3360	CCDS34976.1	9																																																																																			KANK1	-	NULL	ENSG00000107104		0.498	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2		0.00	74	0	C	NM_015158		738311	+1			no_errors	ENST00000382297	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.983	T
KANK4	163782	genome.wustl.edu	37	1	62739570	62739570	+	Silent	SNP	G	G	A	rs142146326		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:62739570G>A	ENST00000371153.4	-	3	1584	c.1206C>T	c.(1204-1206)aaC>aaT	p.N402N	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	402						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGTCTTTGGCGTTCTCTTGGT	0.522																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	175.0	146.0	156.0		1206	-4.5	0.0	1	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KANK4	NM_181712.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		402/996	62739570	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1206C>T	1.37:g.62739570G>A			B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N402	ENST00000371153.4	37	c.1206	CCDS620.1	1																																																																																			KANK4	-	NULL	ENSG00000132854		0.522	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	-	0.00	82	0	G	NM_181712		62739570	-1	tier1	rs142146326	no_errors	ENST00000371153	ensembl	human	known	74_37	silent	9.43	48	5	SNP	0.000	A
KAT2A	2648	genome.wustl.edu	37	17	40265752	40265752	+	Frame_Shift_Del	DEL	G	G	-	rs201300257		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:40265752delG	ENST00000225916.5	-	18	2482	c.2429delC	c.(2428-2430)ccgfs	p.P810fs	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	810	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTCGCTGTCCGGGGGGTTGTA	0.607																																																	0													34.0	35.0	35.0					17																	40265752		2203	4300	6503	SO:0001589	frameshift_variant	0			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2429delC	17.37:g.40265752delG	ENSP00000225916:p.Pro810fs		Q8N1A2|Q9UCW1	Frame_Shift_Del	DEL	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain	p.P810fs	ENST00000225916.5	37	c.2429	CCDS11417.1	17																																																																																			KAT2A	-	pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000108773		0.607	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1		0.00	85	0	G	NM_021078		40265752	-1	tier1		no_errors	ENST00000225916	ensembl	human	known	74_37	frame_shift_del	17.57	61	13	DEL	1.000	-
KAT6A	7994	genome.wustl.edu	37	8	41791588	41791588	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:41791588C>T	ENST00000396930.3	-	18	4693	c.4150G>A	c.(4150-4152)Gtg>Atg	p.V1384M	KAT6A_ENST00000265713.2_Missense_Mutation_p.V1384M|KAT6A_ENST00000406337.1_Missense_Mutation_p.V1384M	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1384					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCTGACACCACGGACGTGTCA	0.463																																																	0													125.0	113.0	117.0					8																	41791588		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4150G>A	8.37:g.41791588C>T	ENSP00000380136:p.Val1384Met		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V1384M	ENST00000396930.3	37	c.4150	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	5.797	0.331328	0.10956	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.60299	0.2;0.2;0.2	5.97	5.1	0.69264	.	0.091907	0.47455	N	0.000234	T	0.46600	0.1401	N	0.19112	0.55	0.26078	N	0.981134	P	0.42620	0.785	P	0.45406	0.479	T	0.41431	-0.9509	10	0.46703	T	0.11	-15.0058	9.9717	0.41759	0.1377:0.7935:0.0:0.0688	.	1384	Q92794	KAT6A_HUMAN	M	1384	ENSP00000265713:V1384M;ENSP00000385888:V1384M;ENSP00000380136:V1384M	ENSP00000265713:V1384M	V	-	1	0	KAT6A	41910745	0.707000	0.27866	0.959000	0.39883	0.033000	0.12548	2.014000	0.40951	1.536000	0.49237	0.655000	0.94253	GTG	KAT6A	-	NULL	ENSG00000083168		0.463	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	-	0.00	24	0	C	NM_006766		41791588	-1	tier1	-	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.568	T
KAZALD1	81621	genome.wustl.edu	37	10	102826316	102826316	+	IGR	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:102826316G>T	ENST00000370200.5	+	0	1913				KAZALD1_ENST00000465807.1_Intron	NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1						cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)				endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GTAGGCGGGGGTGGGGCGTGC	0.682											OREG0020459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001628	intergenic_variant	0			AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"""Immunoglobulin superfamily / I-set domain containing"""	25460	protein-coding gene	gene with protein product		609208	"""Kazal-type serine protease inhibitor domain 1"""			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918		10.37:g.102826316G>T		1369	D3DR74|Q6ZMB1|Q9BQ73	RNA	SNP	-	NULL	ENST00000370200.5	37	NULL	CCDS7509.1	10																																																																																			KAZALD1	-	-	ENSG00000107821		0.682	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZALD1	HGNC	protein_coding	OTTHUMT00000049891.2	-	0.00	71	0	G	NM_030929		102826316	+1	tier1	-	no_errors	ENST00000608812	ensembl	human	known	74_37	rna	22.73	51	15	SNP	0.000	T
KBTBD3	143879	genome.wustl.edu	37	11	105923925	105923925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:105923925delA	ENST00000526793.1	-	3	1650	c.1491delT	c.(1489-1491)tttfs	p.F497fs	KBTBD3_ENST00000534815.1_Frame_Shift_Del_p.F418fs|KBTBD3_ENST00000531837.1_Frame_Shift_Del_p.F497fs	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	493										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATGTTGCATGAAAAAATTGCC	0.343																																																	0													60.0	60.0	60.0					11																	105923925		2201	4297	6498	SO:0001589	frameshift_variant	0			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1491delT	11.37:g.105923925delA	ENSP00000436262:p.Phe497fs		Q6N066|Q86X38|Q96NK5	Frame_Shift_Del	DEL	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.H498fs	ENST00000526793.1	37	c.1491	CCDS8334.1	11																																																																																			KBTBD3	-	pirsf_Kelch-like_gigaxonin	ENSG00000182359		0.343	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD3	HGNC	protein_coding	OTTHUMT00000388705.2		0.00	34	0	A	NM_152433		105923925	-1	tier1		no_errors	ENST00000526793	ensembl	human	known	74_37	frame_shift_del	12.77	41	6	DEL	1.000	-
KCNA4	3739	genome.wustl.edu	37	11	30033718	30033718	+	Missense_Mutation	SNP	G	G	A	rs535663100		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:30033718G>A	ENST00000328224.6	-	2	1741	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	170					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCACTGTAGCGGACTGAACTG	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17678	0.0		0.0	False		,,,				2504	0.0																0													64.0	64.0	64.0					11																	30033718		2161	4253	6414	SO:0001583	missense	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.508C>T	11.37:g.30033718G>A	ENSP00000328511:p.Arg170Cys			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R170C	ENST00000328224.6	37	c.508	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766485	0.69878	.	.	ENSG00000182255	ENST00000328224	D	0.97016	-4.21	4.66	4.66	0.58398	.	0.133902	0.45126	U	0.000393	D	0.94631	0.8269	N	0.14661	0.345	0.58432	D	0.999996	D	0.67145	0.996	P	0.58210	0.835	D	0.94454	0.7670	10	0.35671	T	0.21	.	15.7518	0.77992	0.0:0.0:1.0:0.0	.	170	P22459	KCNA4_HUMAN	C	170	ENSP00000328511:R170C	ENSP00000328511:R170C	R	-	1	0	KCNA4	29990294	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	6.512000	0.73737	2.145000	0.66743	0.561000	0.74099	CGC	KCNA4	-	NULL	ENSG00000182255		0.507	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	-	0.00	28	0	G	NM_002233		30033718	-1	tier1	-	no_errors	ENST00000328224	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	A
KCNAB2	8514	genome.wustl.edu	37	1	6150469	6150469	+	Nonsense_Mutation	SNP	C	C	T	rs139249498		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:6150469C>T	ENST00000164247.1	+	10	1000	c.436C>T	c.(436-438)Cga>Tga	p.R146*	KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378097.1_Nonsense_Mutation_p.R146*|KCNAB2_ENST00000378083.3_Nonsense_Mutation_p.R179*|KCNAB2_ENST00000341524.1_Nonsense_Mutation_p.R146*|KCNAB2_ENST00000378092.1_Nonsense_Mutation_p.R132*|KCNAB2_ENST00000602612.1_Nonsense_Mutation_p.R146*|KCNAB2_ENST00000352527.1_Nonsense_Mutation_p.R132*|KCNAB2_ENST00000458166.2_Nonsense_Mutation_p.R79*|KCNAB2_ENST00000378111.1_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	146					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCTGGAGCGACTGCAGCT	0.667																																																	0								C	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	77.0	66.0	70.0		436,436,535,235,436,394	3.6	1.0	1	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	KCNAB2	NM_001199860.1,NM_001199861.1,NM_001199862.1,NM_001199863.1,NM_003636.3,NM_172130.2	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	146/368,146/368,179/416,79/301,146/368,132/354	6150469	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.436C>T	1.37:g.6150469C>T	ENSP00000164247:p.Arg146*		A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Nonsense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.R179*	ENST00000164247.1	37	c.535	CCDS55.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.485045	0.96323	0.0	1.16E-4	ENSG00000069424	ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000341524;ENST00000352527;ENST00000164247;ENST00000378083;ENST00000458166	.	.	.	4.55	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.2763	11.9875	0.53155	0.4327:0.5673:0.0:0.0	.	.	.	.	X	146;132;132;146;146;132;146;179;79	.	ENSP00000164247:R146X	R	+	1	2	KCNAB2	6073056	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.435000	0.34969	1.001000	0.39076	0.462000	0.41574	CGA	KCNAB2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,tigrfam_K_chnl_volt-dep_bsu_KCNAB	ENSG00000069424		0.667	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3	-	0.00	80	0	C	NM_172130		6150469	+1	tier1	rs139249498	no_errors	ENST00000378083	ensembl	human	known	74_37	nonsense	13.64	57	9	SNP	0.999	T
KCNC1	3746	genome.wustl.edu	37	11	17794026	17794026	+	Missense_Mutation	SNP	G	G	A	rs200123434		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:17794026G>A	ENST00000379472.3	+	2	1415	c.1385G>A	c.(1384-1386)cGg>cAg	p.R462Q	KCNC1_ENST00000265969.6_Missense_Mutation_p.R462Q	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	462					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CATATTCCGCGGCCACCGCAG	0.483																																																	0													49.0	57.0	54.0					11																	17794026		2200	4293	6493	SO:0001583	missense	0			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1385G>A	11.37:g.17794026G>A	ENSP00000368785:p.Arg462Gln		K4DI87	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.R462Q	ENST00000379472.3	37	c.1385	CCDS7827.1	11	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079520	0.55753	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97138	-4.26;-4.26	5.24	5.24	0.73138	.	0.054356	0.64402	D	0.000001	D	0.97592	0.9211	L	0.46947	1.48	0.80722	D	1	B;D	0.89917	0.1;1.0	B;D	0.66716	0.023;0.946	D	0.98091	1.0409	10	0.52906	T	0.07	.	18.8513	0.92232	0.0:0.0:1.0:0.0	.	462;462	Q3KNS8;P48547	.;KCNC1_HUMAN	Q	462	ENSP00000265969:R462Q;ENSP00000368785:R462Q	ENSP00000265969:R462Q	R	+	2	0	KCNC1	17750602	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.869000	0.99810	2.445000	0.82738	0.561000	0.74099	CGG	KCNC1	-	prints_K_chnl_volt-dep_Kv3	ENSG00000129159		0.483	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	-	0.00	46	0	G	NM_004976		17794026	+1	tier1	rs200123434	no_errors	ENST00000265969	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	A
KCNH1	3756	genome.wustl.edu	37	1	211192294	211192294	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:211192294C>T	ENST00000271751.4	-	6	890	c.863G>A	c.(862-864)cGc>cAc	p.R288H	KCNH1_ENST00000367007.4_Missense_Mutation_p.R288H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	288					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTAGTTCATGCGGATAAGTTT	0.448																																																	0													231.0	209.0	216.0					1																	211192294		2203	4300	6503	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.863G>A	1.37:g.211192294C>T	ENSP00000271751:p.Arg288His		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R288H	ENST00000271751.4	37	c.863	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649341	0.87958	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97831	-4.56;-4.56	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99777	1.1026	10	0.66056	D	0.02	.	17.6077	0.88044	0.0:1.0:0.0:0.0	.	288;288	Q14CL3;O95259	.;KCNH1_HUMAN	H	288	ENSP00000271751:R288H;ENSP00000355974:R288H	ENSP00000271751:R288H	R	-	2	0	KCNH1	209258917	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.474000	0.81024	2.402000	0.81655	0.462000	0.41574	CGC	KCNH1	-	pfam_Ion_trans_dom	ENSG00000143473		0.448	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1		0.00	58	0	C	NM_002238		211192294	-1			no_errors	ENST00000271751	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T
KCNH3	23416	genome.wustl.edu	37	12	49943287	49943287	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:49943287G>A	ENST00000257981.6	+	9	1792	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	511					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TACGCCCGCCGCTTTCTGTAC	0.652																																																	0													78.0	70.0	73.0					12																	49943287		2203	4300	6503	SO:0001583	missense	0			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1532G>A	12.37:g.49943287G>A	ENSP00000257981:p.Arg511His		Q9UQ06	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R511H	ENST00000257981.6	37	c.1532	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.605488	0.96626	.	.	ENSG00000135519	ENST00000257981	D	0.96830	-4.14	4.89	4.89	0.63831	Cyclic nucleotide-binding-like (1);	0.000000	0.49305	D	0.000155	D	0.98223	0.9412	M	0.90542	3.125	0.54753	D	0.999984	D	0.89917	1.0	D	0.67231	0.95	D	0.98476	1.0603	10	0.56958	D	0.05	.	15.9387	0.79736	0.0:0.0:1.0:0.0	.	511	Q9ULD8	KCNH3_HUMAN	H	511	ENSP00000257981:R511H	ENSP00000257981:R511H	R	+	2	0	KCNH3	48229554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.817000	0.86213	2.719000	0.93026	0.655000	0.94253	CGC	KCNH3	-	superfamily_cNMP-bd-like	ENSG00000135519		0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	-	0.00	53	0	G	NM_012284		49943287	+1	tier1	-	no_errors	ENST00000257981	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	A
KCNJ5	3762	genome.wustl.edu	37	11	128781288	128781288	+	Silent	SNP	G	G	A	rs370114584		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:128781288G>A	ENST00000338350.4	+	3	472	c.120G>A	c.(118-120)acG>acA	p.T40T	KCNJ5_ENST00000529694.1_Silent_p.T40T|KCNJ5_ENST00000533599.1_Silent_p.T40T			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	40					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CAGACCGTACGCGCCTGCTGG	0.592																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												0								G		1,4401	2.1+/-5.4	0,1,2200	84.0	78.0	80.0		120	-11.6	0.0	11		80	0,8594		0,0,4297	no	coding-synonymous	KCNJ5	NM_000890.3		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		40/420	128781288	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	0			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.120G>A	11.37:g.128781288G>A			B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	p.T40	ENST00000338350.4	37	c.120	CCDS8479.1	11																																																																																			KCNJ5	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	ENSG00000120457		0.592	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	HGNC	protein_coding	OTTHUMT00000386239.1	-	0.00	50	0	G	NM_000890		128781288	+1	tier1	-	no_errors	ENST00000529694	ensembl	human	known	74_37	silent	19.15	38	9	SNP	0.163	A
KCNK13	56659	genome.wustl.edu	37	14	90650656	90650657	+	Frame_Shift_Ins	INS	-	-	G	rs537906670|rs147541930	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:90650656_90650657insG	ENST00000282146.4	+	2	977_978	c.536_537insG	c.(535-540)gcggggfs	p.AG179fs		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	179					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTGAAGGATGCGGGGCAGTGTG	0.629																																																	0																																										SO:0001589	frameshift_variant	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.540dupG	14.37:g.90650660_90650660dupG	ENSP00000282146:p.Ala179fs		B5TJL8|Q96E79	Frame_Shift_Ins	INS	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.Q181fs	ENST00000282146.4	37	c.536_537	CCDS9889.1	14																																																																																			KCNK13	-	NULL	ENSG00000152315		0.629	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1		0.00	28	0	-	NM_022054		90650657	+1	tier1		no_errors	ENST00000282146	ensembl	human	known	74_37	frame_shift_ins	32.35	23	11	INS	0.001:0.000	G
KCNN3	3782	genome.wustl.edu	37	1	154842106	154842106	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:154842106delG	ENST00000271915.4	-	1	650	c.335delC	c.(334-336)cctfs	p.P112fs	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	117					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GTTGGACGAAGGGGGGGCCCT	0.637																																																	0													46.0	37.0	40.0					1																	154842106		2203	4300	6503	SO:0001589	frameshift_variant	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.335delC	1.37:g.154842106delG	ENSP00000271915:p.Pro112fs		B1ANX0|O43517|Q86VF9|Q8WXG7	Frame_Shift_Del	DEL	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.P112fs	ENST00000271915.4	37	c.335	CCDS30880.1	1																																																																																			KCNN3	-	NULL	ENSG00000143603		0.637	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3		0.00	122	0	G	NM_002249		154842106	-1	tier1		no_errors	ENST00000271915	ensembl	human	novel	74_37	frame_shift_del	11.43	93	12	DEL	0.918	-
KCNN3	3782	genome.wustl.edu	37	1	154744782	154744782	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:154744782A>G	ENST00000271915.4	-	3	1432	c.1117T>C	c.(1117-1119)Tgc>Cgc	p.C373R	KCNN3_ENST00000358505.2_Missense_Mutation_p.C60R|KCNN3_ENST00000361147.4_Missense_Mutation_p.C68R	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	378					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TGGATGGCGCACACCAGCATC	0.607																																																	0													56.0	52.0	53.0					1																	154744782		2203	4300	6503	SO:0001583	missense	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1117T>C	1.37:g.154744782A>G	ENSP00000271915:p.Cys373Arg		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.C373R	ENST00000271915.4	37	c.1117	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362310	0.61403	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.99005	-5.32;-4.2;-5.31	4.69	4.69	0.59074	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.64402	D	0.000013	D	0.99339	0.9768	M	0.92219	3.285	0.80722	D	1	D;P;D	0.64830	0.994;0.922;0.97	D;P;D	0.68039	0.918;0.776;0.955	D	0.98810	1.0743	10	0.87932	D	0	-17.9092	13.994	0.64386	1.0:0.0:0.0:0.0	.	379;378;68	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	R	68;373;60	ENSP00000354764:C68R;ENSP00000271915:C373R;ENSP00000351295:C60R	ENSP00000271915:C373R	C	-	1	0	KCNN3	153011406	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.135000	0.94478	1.956000	0.56807	0.459000	0.35465	TGC	KCNN3	-	pfam_K_chnl_Ca-activ_SK,prints_K_chnl_Ca-activ_SK	ENSG00000143603		0.607	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3		0.00	18	0	A	NM_002249		154744782	-1			no_errors	ENST00000271915	ensembl	human	novel	74_37	missense	23.08	10	3	SNP	1.000	G
KCNQ1	3784	genome.wustl.edu	37	11	2610023	2610023	+	Silent	SNP	G	G	A	rs144985256	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:2610023G>A	ENST00000155840.5	+	10	1440	c.1332G>A	c.(1330-1332)acG>acA	p.T444T	KCNQ1_ENST00000335475.5_Silent_p.T317T	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	444					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.T444T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCCATATCACGTGCGACCCCC	0.547																																																	1	Substitution - coding silent(1)	prostate(1)						A	,	10,4394	16.8+/-37.8	0,10,2192	54.0	54.0	54.0		1332,951	-10.0	0.0	11	dbSNP_134	54	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	KCNQ1	NM_000218.2,NM_181798.1	,	0,10,6491	AA,AG,GG		0.0,0.2271,0.0769	,	444/677,317/550	2610023	10,12992	2202	4299	6501	SO:0001819	synonymous_variant	0			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1332G>A	11.37:g.2610023G>A			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.T444	ENST00000155840.5	37	c.1332	CCDS7736.1	11																																																																																			KCNQ1	-	prints_K_chnl_volt-dep_KCQN1	ENSG00000053918		0.547	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	HGNC	protein_coding	OTTHUMT00000027382.2	-	0.00	75	0	G	NM_000218		2610023	+1	tier1	rs144985256	no_errors	ENST00000155840	ensembl	human	known	74_37	silent	9.33	68	7	SNP	0.004	A
KCNQ1	3784	genome.wustl.edu	37	11	2683129	2683129	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:2683129C>T	ENST00000155840.5	+	11	1501				KCNQ1_ENST00000335475.5_Intron|KCNQ1OT1_ENST00000597346.1_RNA	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1						atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ACAGGCCTGGCTCCACAGCAC	0.597																																																	0																																										SO:0001627	intron_variant	0			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1394-62C>T	11.37:g.2683129C>T			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	RNA	SNP	-	NULL	ENST00000155840.5	37	NULL	CCDS7736.1	11																																																																																			KCNQ1OT1	-	-	ENSG00000269821		0.597	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1OT1	HGNC	protein_coding	OTTHUMT00000027382.2	-	0.00	40	0	C	NM_000218		2683129	-1	tier1	-	no_errors	ENST00000597346	ensembl	human	known	74_37	rna	24.24	25	8	SNP	0.000	T
KCNQ4	9132	genome.wustl.edu	37	1	41298775	41298775	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:41298775C>T	ENST00000347132.5	+	11	1685	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.R481C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	535					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GACAGTCATCCGCTCCATCAG	0.597																																																	0													111.0	93.0	99.0					1																	41298775		2203	4300	6503	SO:0001583	missense	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1603C>T	1.37:g.41298775C>T	ENSP00000262916:p.Arg535Cys		O96025	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R535C	ENST00000347132.5	37	c.1603	CCDS456.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.139112|4.139112	0.77775|0.77775	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.99807	.|-6.85;-6.85	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Potassium channel, voltage dependent, KCNQ, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99722|0.99722	0.9892|0.9892	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.97298|0.97298	0.9929|0.9929	5|10	.|0.87932	.|D	.|0	-26.9446|-26.9446	14.9259|14.9259	0.70878|0.70878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|481;535	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	L|C	395|535;481	.|ENSP00000262916:R535C;ENSP00000423756:R481C	.|ENSP00000262916:R535C	P|R	+|+	2|1	0|0	KCNQ4|KCNQ4	41071362|41071362	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	1.806000|1.806000	0.38892|0.38892	2.582000|2.582000	0.87167|0.87167	0.650000|0.650000	0.86243|0.86243	CCG|CGC	KCNQ4	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000117013		0.597	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	HGNC	protein_coding	OTTHUMT00000020812.1		0.00	37	0	C	NM_004700		41298775	+1			no_errors	ENST00000347132	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	T
KCNS1	3787	genome.wustl.edu	37	20	43723597	43723597	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:43723597T>C	ENST00000306117.1	-	5	1891	c.1495A>G	c.(1495-1497)Aca>Gca	p.T499A	KCNS1_ENST00000537075.1_Missense_Mutation_p.T499A	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	499					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TCTCGGGATGTCTCCAGAGAT	0.577																																																	0													106.0	112.0	110.0					20																	43723597		2203	4300	6503	SO:0001583	missense	0			AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1495A>G	20.37:g.43723597T>C	ENSP00000307694:p.Thr499Ala		A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6	p.T499A	ENST00000306117.1	37	c.1495	CCDS13342.1	20	.	.	.	.	.	.	.	.	.	.	T	9.763	1.170614	0.21621	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.96300	-3.97;-3.97	5.67	4.56	0.56223	.	0.178416	0.40385	N	0.001120	D	0.87881	0.6289	N	0.12182	0.205	0.31314	N	0.686861	B	0.02656	0.0	B	0.04013	0.001	T	0.79162	-0.1917	10	0.12103	T	0.63	.	4.0789	0.09917	0.0:0.195:0.0:0.805	.	499	Q96KK3	KCNS1_HUMAN	A	499	ENSP00000307694:T499A;ENSP00000445595:T499A	ENSP00000307694:T499A	T	-	1	0	KCNS1	43157011	0.735000	0.28153	0.970000	0.41538	0.603000	0.37013	0.469000	0.22067	2.163000	0.67991	0.459000	0.35465	ACA	KCNS1	-	NULL	ENSG00000124134		0.577	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS1	HGNC	protein_coding	OTTHUMT00000080507.3	-	0.00	42	0	T	NM_002251		43723597	-1	tier1	-	no_errors	ENST00000306117	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.948	C
KCNS3	3790	genome.wustl.edu	37	2	18112633	18112633	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:18112633C>T	ENST00000403915.1	+	3	809	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.R120C	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	120					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.R120C(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAGCAATCGCTACCAGGA	0.507																																																	1	Substitution - Missense(1)	urinary_tract(1)											109.0	110.0	110.0					2																	18112633		2203	4300	6503	SO:0001583	missense	0			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.358C>T	2.37:g.18112633C>T	ENSP00000385968:p.Arg120Cys		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.R120C	ENST00000403915.1	37	c.358	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704490	0.48412	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	T;T	0.43688	0.94;0.94	5.65	4.72	0.59763	BTB/POZ-like (1);BTB/POZ fold (2);	0.318362	0.34411	N	0.003982	T	0.49949	0.1587	M	0.73962	2.25	0.58432	D	0.999999	D	0.69078	0.997	P	0.47470	0.548	T	0.57341	-0.7828	10	0.72032	D	0.01	.	13.6152	0.62103	0.3152:0.6848:0.0:0.0	.	120	Q9BQ31	KCNS3_HUMAN	C	120	ENSP00000385968:R120C;ENSP00000305824:R120C	ENSP00000305824:R120C	R	+	1	0	KCNS3	17976114	0.995000	0.38212	0.974000	0.42286	0.988000	0.76386	3.032000	0.49736	2.825000	0.97269	0.655000	0.94253	CGC	KCNS3	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	ENSG00000170745		0.507	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1		0.00	34	0	C	NM_002252		18112633	+1			no_errors	ENST00000304101	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.995	T
KCNU1	157855	genome.wustl.edu	37	8	36768606	36768608	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:36768606_36768608delCTC	ENST00000399881.3	+	22	2527_2529	c.2490_2492delCTC	c.(2488-2493)gactcc>gac	p.S833del		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	833					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCAAATTGACTCCTCCTCTGAC	0.498																																																	0																																										SO:0001651	inframe_deletion	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2490_2492delCTC	8.37:g.36768612_36768614delCTC	ENSP00000382770:p.Ser833del			In_Frame_Del	DEL	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.S833in_frame_del	ENST00000399881.3	37	c.2490_2492	CCDS55220.1	8																																																																																			KCNU1	-	NULL	ENSG00000215262		0.498	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1		0.00	64	0	CTC	NM_001031836		36768608	+1	tier1		no_errors	ENST00000399881	ensembl	human	known	74_37	in_frame_del	13.43	58	9	DEL	0.000:0.000:0.000	-
KCTD8	386617	genome.wustl.edu	37	4	44449818	44449818	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:44449818G>A	ENST00000360029.3	-	1	1006	c.723C>T	c.(721-723)atC>atT	p.I241I	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	241					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.I241I(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGGCCAGCGCGATGCGCCCGC	0.667										HNSCC(17;0.042)																																							1	Substitution - coding silent(1)	lung(1)											33.0	27.0	29.0					4																	44449818		2202	4298	6500	SO:0001819	synonymous_variant	0			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.723C>T	4.37:g.44449818G>A			A2RU39	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.I241	ENST00000360029.3	37	c.723	CCDS3467.1	4																																																																																			KCTD8	-	NULL	ENSG00000183783		0.667	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1	-	0.00	26	0	G			44449818	-1	tier1	-	no_errors	ENST00000360029	ensembl	human	known	74_37	silent	21.05	15	4	SNP	1.000	A
KCTD8	386617	genome.wustl.edu	37	4	44450294	44450294	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:44450294C>T	ENST00000360029.3	-	1	530	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	83	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						cggcgccgggcgccgccACGG	0.652										HNSCC(17;0.042)																																							0													9.0	10.0	10.0					4																	44450294		2048	4093	6141	SO:0001583	missense	0			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.247G>A	4.37:g.44450294C>T	ENSP00000353129:p.Ala83Thr		A2RU39	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.A83T	ENST00000360029.3	37	c.247	CCDS3467.1	4	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373701	0.42105	.	.	ENSG00000183783	ENST00000360029	T	0.38240	1.15	3.59	2.74	0.32292	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.49305	D	0.000154	T	0.21145	0.0509	N	0.24115	0.695	0.29740	N	0.837175	B	0.19817	0.039	B	0.06405	0.002	T	0.12243	-1.0555	10	0.27785	T	0.31	.	8.5164	0.33248	0.0:0.881:0.0:0.119	.	83	Q6ZWB6	KCTD8_HUMAN	T	83	ENSP00000353129:A83T	ENSP00000353129:A83T	A	-	1	0	KCTD8	44145051	0.858000	0.29795	0.999000	0.59377	0.972000	0.66771	0.242000	0.18087	0.694000	0.31654	0.467000	0.42956	GCC	KCTD8	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000183783		0.652	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1	-	0.00	16	0	C			44450294	-1	tier1	-	no_errors	ENST00000360029	ensembl	human	known	74_37	missense	37.50	10	6	SNP	1.000	T
KDM3A	55818	genome.wustl.edu	37	2	86684136	86684136	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:86684136G>A	ENST00000409556.1	+	9	1150	c.785G>A	c.(784-786)cGc>cAc	p.R262H	KDM3A_ENST00000409064.1_Missense_Mutation_p.R262H|KDM3A_ENST00000542128.1_Missense_Mutation_p.R210H|KDM3A_ENST00000312912.5_Missense_Mutation_p.R262H			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	262					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GCTGTAAAACGCAAGTCTTCT	0.363																																					NSCLC(96;1150 1523 6936 46253 49736)												0													56.0	56.0	56.0					2																	86684136		2203	4300	6503	SO:0001583	missense	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.785G>A	2.37:g.86684136G>A	ENSP00000386660:p.Arg262His		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R262H	ENST00000409556.1	37	c.785	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518249	0.85495	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.65916	-0.16;-0.16;-0.16;-0.18	5.61	5.61	0.85477	.	0.072482	0.56097	D	0.000036	T	0.76047	0.3933	L	0.57536	1.79	0.44030	D	0.996756	D;P	0.89917	1.0;0.903	D;P	0.87578	0.998;0.541	T	0.77720	-0.2482	10	0.87932	D	0	.	15.1448	0.72641	0.0:0.0:1.0:0.0	.	210;262	F5H070;Q9Y4C1	.;KDM3A_HUMAN	H	262;262;262;262;210	ENSP00000386660:R262H;ENSP00000323659:R262H;ENSP00000386516:R262H;ENSP00000438324:R210H	ENSP00000323659:R262H	R	+	2	0	KDM3A	86537647	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	5.391000	0.66266	2.627000	0.88993	0.561000	0.74099	CGC	KDM3A	-	NULL	ENSG00000115548		0.363	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	-	0.00	63	0	G	NM_018433		86684136	+1	tier1	-	no_errors	ENST00000312912	ensembl	human	known	74_37	missense	16.67	55	11	SNP	0.998	A
KDM6B	23135	genome.wustl.edu	37	17	7751858	7751859	+	In_Frame_Ins	INS	-	-	CAC	rs59627144|rs377654044	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7751858_7751859insCAC	ENST00000448097.2	+	11	2583_2584	c.2252_2253insCAC	c.(2251-2256)gtcacc>gtCACcacc	p.762_763insT	KDM6B_ENST00000254846.5_In_Frame_Ins_p.762_763insT			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	762	Pro-rich.|Thr-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCTGTCGCCGTcaccaccacca	0.653																																																	0																																										SO:0001652	inframe_insertion	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2283_2285dupCAC	17.37:g.7751865_7751867dupCAC	ENSP00000412513:p.Thr763_Thr764dup		C9IZ40|Q96G33	In_Frame_Ins	INS	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.755in_frame_insT	ENST00000448097.2	37	c.2252_2253		17																																																																																			KDM6B	-	NULL	ENSG00000132510		0.653	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1		0.00	36	0	-	XM_043272		7751859	+1	tier1		no_errors	ENST00000254846	ensembl	human	known	74_37	in_frame_ins	17.65	14	3	INS	0.000:0.000	CAC
KEAP1	9817	genome.wustl.edu	37	19	10610255	10610255	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10610255A>G	ENST00000171111.5	-	2	1002	c.455T>C	c.(454-456)gTc>gCc	p.V152A	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.V152A	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	152					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GACGTGGAGGACACACTTCTC	0.582																																																	0													182.0	143.0	156.0					19																	10610255		2203	4300	6503	SO:0001583	missense	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.455T>C	19.37:g.10610255A>G	ENSP00000171111:p.Val152Ala		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V152A	ENST00000171111.5	37	c.455	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	A	16.33	3.091863	0.55968	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.69175	-0.38;-0.38	4.81	3.8	0.43715	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.128186	0.52532	D	0.000074	T	0.75759	0.3893	L	0.60067	1.865	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.74919	-0.3500	10	0.66056	D	0.02	.	8.5797	0.33621	0.9066:0.0:0.0934:0.0	.	152	Q14145	KEAP1_HUMAN	A	152	ENSP00000171111:V152A;ENSP00000377245:V152A	ENSP00000171111:V152A	V	-	2	0	KEAP1	10471255	1.000000	0.71417	0.989000	0.46669	0.401000	0.30781	9.093000	0.94163	0.703000	0.31848	-0.379000	0.06801	GTC	KEAP1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1		0.00	16	0	A	NM_012289		10610255	-1			no_errors	ENST00000171111	ensembl	human	known	74_37	missense	16.67	14	3	SNP	1.000	G
KHDRBS1	10657	genome.wustl.edu	37	1	32508537	32508537	+	3'UTR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:32508537delA	ENST00000327300.7	+	0	1811				KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAAGTTGAGTAAAAAAAAAAA	0.254																																					Ovarian(173;401 1982 12359 31110 42403)												0																																										SO:0001624	3_prime_UTR_variant	0			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.*312A>-	1.37:g.32508537delA				RNA	DEL	-	NULL	ENST00000327300.7	37	NULL	CCDS350.1	1																																																																																			KHDRBS1	-	-	ENSG00000121774		0.254	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS1	HGNC	protein_coding	OTTHUMT00000011199.4		0.00	36	0	A	NM_006559		32508537	+1	tier1		no_errors	ENST00000307714	ensembl	human	known	74_37	rna	31.25	22	10	DEL	0.903	-
KHDRBS1	10657	genome.wustl.edu	37	1	32508606	32508606	+	3'UTR	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:32508606G>T	ENST00000327300.7	+	0	1880				KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGAAGTAAAGGCTTGTTAAG	0.318																																					Ovarian(173;401 1982 12359 31110 42403)												0																																										SO:0001624	3_prime_UTR_variant	0			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.*381G>T	1.37:g.32508606G>T				RNA	SNP	-	NULL	ENST00000327300.7	37	NULL	CCDS350.1	1																																																																																			KHDRBS1	-	-	ENSG00000121774		0.318	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS1	HGNC	protein_coding	OTTHUMT00000011199.4	-	0.00	51	0	G	NM_006559		32508606	+1	tier1	-	no_errors	ENST00000307714	ensembl	human	known	74_37	rna	15.56	38	7	SNP	1.000	T
KHDRBS1	10657	genome.wustl.edu	37	1	32509353	32509353	+	3'UTR	SNP	G	G	A	rs555716849		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:32509353G>A	ENST00000327300.7	+	0	2627				KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATTTGTACCGTCCTCCCATT	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		17405	0.0		0.0	False		,,,				2504	0.001				Ovarian(173;401 1982 12359 31110 42403)												0																																										SO:0001624	3_prime_UTR_variant	0			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.*1128G>A	1.37:g.32509353G>A				RNA	SNP	-	NULL	ENST00000327300.7	37	NULL	CCDS350.1	1																																																																																			KHDRBS1	-	-	ENSG00000121774		0.363	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS1	HGNC	protein_coding	OTTHUMT00000011199.4	-	0.00	44	0	G	NM_006559		32509353	+1	tier1	-	no_errors	ENST00000307714	ensembl	human	known	74_37	rna	15.38	33	6	SNP	1.000	A
KHDRBS3	10656	genome.wustl.edu	37	8	136659489	136659492	+	3'UTR	DEL	AAAA	AAAA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:136659489_136659492delAAAA	ENST00000355849.5	+	0	1613_1616				KHDRBS3_ENST00000520981.1_3'UTR	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3						regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ACCTGGGCAGAAAAAAAAAAAAAA	0.25																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.*165AAAA>-	8.37:g.136659497_136659500delAAAA			Q6NUL8|Q9UPA8	RNA	DEL	-	NULL	ENST00000355849.5	37	NULL	CCDS6374.1	8																																																																																			KHDRBS3	-	-	ENSG00000131773		0.250	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1		0.00	39	0	AAAA			136659492	+1	tier1		no_errors	ENST00000518728	ensembl	human	putative	74_37	rna	30.77	36	16	DEL	1.000:1.000:1.000:0.910	-
KIAA0020	9933	genome.wustl.edu	37	9	2834090	2834090	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:2834090A>G	ENST00000397885.2	-	4	587	c.381T>C	c.(379-381)agT>agC	p.S127S		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	127						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGGTTTTATCACTGAGTTGTC	0.373																																																	0													148.0	143.0	144.0					9																	2834090		2203	4300	6503	SO:0001819	synonymous_variant	0			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.381T>C	9.37:g.2834090A>G			A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.S127	ENST00000397885.2	37	c.381	CCDS6448.2	9																																																																																			KIAA0020	-	NULL	ENSG00000080608		0.373	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	-	0.00	91	0	A	NM_014878		2834090	-1	tier1	-	no_errors	ENST00000397885	ensembl	human	known	74_37	silent	17.65	56	12	SNP	0.983	G
KIAA0368	23392	genome.wustl.edu	37	9	114131441	114131441	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:114131441T>C	ENST00000338205.5	-	45	5206	c.4987A>G	c.(4987-4989)Agc>Ggc	p.S1663G	KIAA0368_ENST00000374378.3_Intron|KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.S1841G			Q5VYK3	ECM29_HUMAN	KIAA0368	1669					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACCCCACTGCTTTCAAGTGAG	0.408																																																	0													83.0	75.0	77.0					9																	114131441		1805	4073	5878	SO:0001583	missense	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4987A>G	9.37:g.114131441T>C	ENSP00000339889:p.Ser1663Gly		O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1841G	ENST00000338205.5	37	c.5521		9	.	.	.	.	.	.	.	.	.	.	T	15.23	2.771421	0.49680	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.68479	-0.33	5.67	5.67	0.87782	.	0.098147	0.64402	D	0.000002	T	0.57946	0.2088	L	0.38531	1.155	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.52533	-0.8563	10	0.30078	T	0.28	.	15.9192	0.79547	0.0:0.0:0.0:1.0	.	1138	B3KXF2	.	G	1663;1841;1138	ENSP00000259335:S1841G	ENSP00000259335:S1841G	S	-	1	0	KIAA0368	113171262	0.998000	0.40836	0.965000	0.40720	0.706000	0.40770	3.225000	0.51246	2.164000	0.68074	0.533000	0.62120	AGC	KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.408	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	-	0.00	76	0	T	NM_014686		114131441	-1	tier1	-	no_errors	ENST00000259335	ensembl	human	known	74_37	missense	12.50	56	8	SNP	0.997	C
KIAA0930	23313	genome.wustl.edu	37	22	45593025	45593025	+	3'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:45593025C>T	ENST00000336156.5	-	0	1312				KIAA0930_ENST00000251993.7_3'UTR|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000391627.2_3'UTR|KIAA0930_ENST00000443310.3_3'UTR	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930											endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GGGCTGGGCCCGGCCGGGGCT	0.697																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.*32G>A	22.37:g.45593025C>T			B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	RNA	SNP	-	NULL	ENST00000336156.5	37	NULL	CCDS33665.1	22																																																																																			KIAA0930	-	-	ENSG00000100364		0.697	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0930	HGNC	protein_coding	OTTHUMT00000321975.2	-	0.00	60	0	C	NM_001009880		45593025	-1	tier1	-	no_errors	ENST00000474515	ensembl	human	known	74_37	rna	14.55	47	8	SNP	0.990	T
ICE1	23379	genome.wustl.edu	37	5	5486837	5486837	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:5486837G>A	ENST00000296564.7	+	18	6746	c.6524G>A	c.(6523-6525)cGt>cAt	p.R2175H		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2175					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCCCTAGGTCGTTTAGGCCAA	0.358																																																	0													81.0	75.0	76.0					5																	5486837		1828	4078	5906	SO:0001583	missense	0																														ENST00000296564.7:c.6524G>A	5.37:g.5486837G>A	ENSP00000296564:p.Arg2175His		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.R2175H	ENST00000296564.7	37	c.6524	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266360	0.80358	.	.	ENSG00000164151	ENST00000296564	T	0.13307	2.6	5.69	5.69	0.88448	.	.	.	.	.	T	0.35335	0.0928	M	0.61703	1.905	0.49299	D	0.999779	D	0.89917	1.0	D	0.81914	0.995	T	0.01977	-1.1236	9	0.87932	D	0	-11.422	15.3121	0.74042	0.0:0.0:1.0:0.0	.	2175	Q9Y2F5	K0947_HUMAN	H	2175	ENSP00000296564:R2175H	ENSP00000296564:R2175H	R	+	2	0	KIAA0947	5539837	1.000000	0.71417	0.961000	0.40146	0.799000	0.45148	4.432000	0.59922	2.685000	0.91497	0.655000	0.94253	CGT	KIAA0947	-	NULL	ENSG00000164151		0.358	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0.00	79	0	G			5486837	+1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	25.93	60	21	SNP	0.994	A
KIAA1107	23285	genome.wustl.edu	37	1	92642744	92642744	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:92642744C>T	ENST00000370378.4	+	5	778	c.680C>T	c.(679-681)gCa>gTa	p.A227V	KIAA1107_ENST00000409154.4_Missense_Mutation_p.A282V	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	282										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						Tcagcaacagcagcagcagca	0.433																																																	0													82.0	77.0	78.0					1																	92642744		692	1591	2283	SO:0001583	missense	0			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.680C>T	1.37:g.92642744C>T	ENSP00000359404:p.Ala227Val		O14767|Q8N3X7	Missense_Mutation	SNP	NULL	p.A282V	ENST00000370378.4	37	c.845	CCDS44172.1	1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444439	0.25987	.	.	ENSG00000069712	ENST00000409154;ENST00000370378	T;T	0.05717	3.4;3.4	4.15	1.73	0.24493	.	0.633725	0.14429	N	0.320118	T	0.00906	0.0030	N	0.17082	0.46	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.47484	-0.9114	10	0.08381	T	0.77	.	6.7197	0.23323	0.0:0.6856:0.0:0.3144	.	227	E9PEZ5	.	V	282;227	ENSP00000386957:A282V;ENSP00000359404:A227V	ENSP00000359404:A227V	A	+	2	0	KIAA1107	92415332	0.003000	0.15002	0.005000	0.12908	0.142000	0.21351	0.411000	0.21115	0.276000	0.22118	0.650000	0.86243	GCA	KIAA1107	-	NULL	ENSG00000069712		0.433	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	-	0.00	23	0	C	XM_034086		92642744	+1	tier1	-	no_errors	ENST00000409154	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.005	T
KIAA1211	57482	genome.wustl.edu	37	4	57181235	57181235	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:57181235C>T	ENST00000504228.1	+	6	1672	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R523W|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R516W			Q6ZU35	K1211_HUMAN	KIAA1211	523	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GGAGGAGCTGCGGTGGCAGGA	0.632																																																	0													14.0	20.0	18.0					4																	57181235		2083	4205	6288	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1567C>T	4.37:g.57181235C>T	ENSP00000423366:p.Arg523Trp		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.R523W	ENST00000504228.1	37	c.1567	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475378	0.26511	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02446	4.29;4.29;4.29	4.34	-0.443	0.12249	.	.	.	.	.	T	0.12050	0.0293	M	0.71581	2.175	0.29747	N	0.836672	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.02184	-1.1199	9	0.87932	D	0	-29.1997	11.4754	0.50295	0.3126:0.6024:0.0:0.085	.	516;516;523	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	W	523;523;516;433	ENSP00000264229:R523W;ENSP00000423366:R523W;ENSP00000444006:R516W	ENSP00000264229:R523W	R	+	1	2	KIAA1211	56875992	0.005000	0.15991	0.105000	0.21289	0.073000	0.16967	0.148000	0.16224	-0.254000	0.09500	-1.108000	0.02087	CGG	KIAA1211	-	NULL	ENSG00000109265		0.632	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	-	0.00	45	0	C	NM_020722		57181235	+1	tier1	-	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	43.75	27	21	SNP	0.072	T
KIAA1211	57482	genome.wustl.edu	37	4	57181940	57181941	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:57181940_57181941insC	ENST00000504228.1	+	6	2377_2378	c.2272_2273insC	c.(2272-2274)gccfs	p.A758fs	KIAA1211_ENST00000264229.6_Frame_Shift_Ins_p.A758fs|KIAA1211_ENST00000541073.1_Frame_Shift_Ins_p.A751fs			Q6ZU35	K1211_HUMAN	KIAA1211	758										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGAAGAGACAGCCCCCCAGCCT	0.594																																																	0																																										SO:0001589	frameshift_variant	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2278dupC	4.37:g.57181946_57181946dupC	ENSP00000423366:p.Ala758fs		Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Ins	INS	NULL	p.Q760fs	ENST00000504228.1	37	c.2272_2273	CCDS43230.1	4																																																																																			KIAA1211	-	NULL	ENSG00000109265		0.594	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2		0.00	53	0	-	NM_020722		57181941	+1	tier1		no_errors	ENST00000504228	ensembl	human	known	74_37	frame_shift_ins	13.95	37	6	INS	0.000:0.000	C
KIAA1109	84162	genome.wustl.edu	37	4	123178534	123178534	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:123178534C>A	ENST00000264501.4	+	41	6876	c.6503C>A	c.(6502-6504)cCt>cAt	p.P2168H	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P2168H|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P2168H			Q2LD37	K1109_HUMAN	KIAA1109	2168					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCAGCTCAGCCTCTGAAACCT	0.448																																																	0													206.0	199.0	201.0					4																	123178534		2051	4219	6270	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6503C>A	4.37:g.123178534C>A	ENSP00000264501:p.Pro2168His		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.P2168H	ENST00000264501.4	37	c.6503	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.687730|3.687730	0.68157|0.68157	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.29655	.|2.18;2.18;1.56	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.257594	.|0.25355	.|U	.|0.031269	T|T	0.29716|0.29716	0.0742|0.0742	N|N	0.14661|0.14661	0.345|0.345	0.37815|0.37815	D|D	0.928187|0.928187	.|P;P;B	.|0.49447	.|0.924;0.924;0.162	.|P;B;B	.|0.46479	.|0.518;0.391;0.219	T|T	0.17837|0.17837	-1.0356|-1.0356	5|10	.|0.87932	.|D	.|0	.|.	20.6525|20.6525	0.99598|0.99598	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2168;2167;2168	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	I|H	741|2168	.|ENSP00000264501:P2168H;ENSP00000373390:P2168H;ENSP00000389925:P2168H	.|ENSP00000264501:P2168H	L|P	+|+	1|2	0|0	KIAA1109|KIAA1109	123397984|123397984	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	5.685000|5.685000	0.68204|0.68204	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	CTC|CCT	KIAA1109	-	NULL	ENSG00000138688		0.448	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0.00	48	0	C	NM_020797		123178534	+1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	15.25	50	9	SNP	0.999	A
KIAA1279	26128	genome.wustl.edu	37	10	70775971	70775972	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:70775971_70775972insA	ENST00000361983.4	+	7	1767_1768	c.1665_1666insA	c.(1666-1668)aaafs	p.K556fs		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	556					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GTCTCTATGGCAAAATCATTAC	0.421																																																	0																																										SO:0001589	frameshift_variant	0			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1669dupA	10.37:g.70775975_70775975dupA	ENSP00000354848:p.Lys556fs		A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Frame_Shift_Ins	INS	pfam_KBP	p.I556fs	ENST00000361983.4	37	c.1665_1666	CCDS7284.1	10																																																																																			KIAA1279	-	pfam_KBP	ENSG00000198954		0.421	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1		0.00	89	0	-	NM_015634		70775972	+1	tier1		no_errors	ENST00000361983	ensembl	human	known	74_37	frame_shift_ins	25.42	44	15	INS	1.000:1.000	A
KIAA1324L	222223	genome.wustl.edu	37	7	86571386	86571386	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:86571386G>A	ENST00000450689.2	-	5	874	c.689C>T	c.(688-690)aCc>aTc	p.T230I	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T230I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T63I|KIAA1324L_ENST00000297222.6_5'Flank	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	230						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTTGTCAGTGGTGGTGTCCAT	0.388																																																	0													174.0	152.0	159.0					7																	86571386		692	1591	2283	SO:0001583	missense	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.689C>T	7.37:g.86571386G>A	ENSP00000413445:p.Thr230Ile		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.T230I	ENST00000450689.2	37	c.689	CCDS47632.1	7	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656819	0.67586	.	.	ENSG00000164659	ENST00000450689;ENST00000444627;ENST00000416314	T;T;T	0.40756	1.02;1.02;1.02	5.64	4.75	0.60458	.	0.314901	0.28618	U	0.014711	T	0.36608	0.0973	L	0.44542	1.39	0.80722	D	1	B;B	0.32526	0.374;0.374	B;B	0.29785	0.107;0.067	T	0.12785	-1.0534	10	0.37606	T	0.19	.	15.5908	0.76526	0.0:0.138:0.862:0.0	.	230;63	A8MWY0;B4DJV3	K132L_HUMAN;.	I	230;230;63	ENSP00000413445:T230I;ENSP00000397377:T230I;ENSP00000402390:T63I	ENSP00000402390:T63I	T	-	2	0	KIAA1324L	86409322	1.000000	0.71417	0.978000	0.43139	0.999000	0.98932	4.396000	0.59684	1.348000	0.45733	0.650000	0.86243	ACC	KIAA1324L	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000164659		0.388	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	-	0.00	58	0	G	NM_152748		86571386	-1	tier1	-	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.995	A
KIAA1549	57670	genome.wustl.edu	37	7	138665892	138665892	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:138665892G>A	ENST00000422774.1	-	1	172	c.124C>T	c.(124-126)Ccg>Tcg	p.P42S	KIAA1549_ENST00000440172.1_Missense_Mutation_p.P42S			Q9HCM3	K1549_HUMAN	KIAA1549	42						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGCAgccccgggcggcggcgg	0.816			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													1.0	1.0	1.0					7																	138665892		69	284	353	SO:0001583	missense	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.124C>T	7.37:g.138665892G>A	ENSP00000416040:p.Pro42Ser		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.P42S	ENST00000422774.1	37	c.124	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420820	0.25639	.	.	ENSG00000122778	ENST00000440172;ENST00000422774	T;T	0.25912	1.77;1.77	3.28	1.34	0.21922	.	.	.	.	.	T	0.12817	0.0311	N	0.14661	0.345	0.80722	D	1	B;B	0.21520	0.034;0.057	B;B	0.20577	0.013;0.03	T	0.09314	-1.0680	9	0.45353	T	0.12	.	5.1339	0.14924	0.3054:0.0:0.6946:0.0	.	42;42	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	S	42	ENSP00000406661:P42S;ENSP00000416040:P42S	ENSP00000416040:P42S	P	-	1	0	KIAA1549	138316432	0.995000	0.38212	0.626000	0.29213	0.301000	0.27625	0.797000	0.26999	0.102000	0.17638	0.134000	0.15878	CCG	KIAA1549	-	NULL	ENSG00000122778		0.816	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	-	0.00	10	0	G			138665892	-1	tier1	-	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	45.45	6	5	SNP	0.808	A
KIAA1644	85352	genome.wustl.edu	37	22	44692715	44692715	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:44692715G>A	ENST00000381176.4	-	3	250	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	40						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				AAGTGGTAGCGGCCTTTGTGG	0.547																																																	0													133.0	150.0	144.0					22																	44692715		2084	4223	6307	SO:0001583	missense	0			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.118C>T	22.37:g.44692715G>A	ENSP00000370568:p.Arg40Cys		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	NULL	p.R40C	ENST00000381176.4	37	c.118	CCDS43025.1	22	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335742	0.81801	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.27	5.27	0.74061	.	0.111895	0.64402	D	0.000007	T	0.62417	0.2426	L	0.29908	0.895	0.43782	D	0.996317	D	0.71674	0.998	P	0.56916	0.809	T	0.69514	-0.5125	8	0.87932	D	0	-37.5203	17.8688	0.88804	0.0:0.0:1.0:0.0	.	40	Q3SXP7	K1644_HUMAN	C	40	.	ENSP00000370568:R40C	R	-	1	0	KIAA1644	43024048	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.305000	0.78891	2.443000	0.82685	0.561000	0.74099	CGC	KIAA1644	-	NULL	ENSG00000138944		0.547	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1644	HGNC	protein_coding	OTTHUMT00000075879.2	-	0.00	45	0	G	NM_001099294		44692715	-1	tier1	-	no_errors	ENST00000381176	ensembl	human	putative	74_37	missense	17.02	39	8	SNP	1.000	A
KIAA1731	85459	genome.wustl.edu	37	11	93420943	93420944	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:93420943_93420944delTG	ENST00000325212.6	+	10	1410_1411	c.1248_1249delTG	c.(1246-1251)actgttfs	p.V417fs	KIAA1731_ENST00000411936.1_Frame_Shift_Del_p.V417fs|KIAA1731_ENST00000344196.4_5'UTR			Q9C0D2	K1731_HUMAN	KIAA1731	417						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGATTACGACTGTTAGTGAAAT	0.366																																																	0																																										SO:0001589	frameshift_variant	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.1248_1249delTG	11.37:g.93420943_93420944delTG	ENSP00000316681:p.Val417fs		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Frame_Shift_Del	DEL	NULL	p.V417fs	ENST00000325212.6	37	c.1248_1249	CCDS44708.1	11																																																																																			KIAA1731	-	NULL	ENSG00000166004		0.366	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1		0.00	85	0	TG	NM_033395		93420944	+1	tier1		no_errors	ENST00000411936	ensembl	human	known	74_37	frame_shift_del	13.04	60	9	DEL	0.000:0.000	-
KIAA1919	91749	genome.wustl.edu	37	6	111587126	111587126	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:111587126C>T	ENST00000368847.4	+	4	714	c.361C>T	c.(361-363)Cat>Tat	p.H121Y		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	121					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGGAGCCCCACATATGCAGGC	0.453																																																	0													85.0	89.0	88.0					6																	111587126		2203	4300	6503	SO:0001583	missense	0			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.361C>T	6.37:g.111587126C>T	ENSP00000357840:p.His121Tyr		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.H121Y	ENST00000368847.4	37	c.361	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	c	13.40	2.227218	0.39399	.	.	ENSG00000173214	ENST00000368847	T	0.57595	0.39	5.85	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);	0.045307	0.85682	N	0.000000	T	0.28599	0.0708	L	0.43152	1.355	0.48830	D	0.999719	B	0.26002	0.139	B	0.32393	0.145	T	0.17198	-1.0377	10	0.09843	T	0.71	-4.1702	15.2375	0.73441	0.0:0.9328:0.0:0.0672	.	121	Q5TF39	NAGT1_HUMAN	Y	121	ENSP00000357840:H121Y	ENSP00000357840:H121Y	H	+	1	0	KIAA1919	111693819	0.999000	0.42202	0.645000	0.29479	0.987000	0.75469	4.277000	0.58939	1.500000	0.48636	-0.131000	0.14894	CAT	KIAA1919	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000173214		0.453	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1	-	0.00	36	0	C	NM_153369		111587126	+1	tier1	-	no_errors	ENST00000368847	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	T
CCDC183	84960	genome.wustl.edu	37	9	139701355	139701355	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:139701355G>A	ENST00000338005.6	+	12	1424				RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000357466.2_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000311502.7_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000371663.4_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN												biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CACAGCCCACGTCCCCTCAAA	0.637																																																	0													32.0	36.0	35.0					9																	139701355		2107	4219	6326	SO:0001627	intron_variant	0																														ENST00000338005.6:c.1389+36G>A	9.37:g.139701355G>A			B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	RNA	SNP	-	NULL	ENST00000338005.6	37	NULL	CCDS43906.1	9																																																																																			KIAA1984-AS1	-	-	ENSG00000228544		0.637	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984-AS1	HGNC	protein_coding	OTTHUMT00000354899.1	-	0.00	39	0	G			139701355	-1	tier1	-	no_errors	ENST00000414656	ensembl	human	known	74_37	rna	16.67	25	5	SNP	0.000	A
KIAA2018	205717	genome.wustl.edu	37	3	113376110	113376111	+	In_Frame_Ins	INS	-	-	TGC	rs59601191|rs112313093|rs10606566|rs59990801|rs397990842		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:113376110_113376111insTGC	ENST00000478658.1	-	5	4435_4436	c.4418_4419insGCA	c.(4417-4419)caa>caGCAa	p.1473_1473Q>QQ	KIAA2018_ENST00000316407.4_In_Frame_Ins_p.1473_1473Q>QQ|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1473	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gttgttgctgttgctgctgctg	0.51																																																	0																																										SO:0001652	inframe_insertion	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4416_4418dupGCA	3.37:g.113376117_113376119dupTGC	ENSP00000420721:p.Gln1478dup		Q7Z3L9|Q8IVF3|Q9H8T4	In_Frame_Ins	INS	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.1477in_frame_insQ	ENST00000478658.1	37	c.4419_4418	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.510	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0.00	32	0	-	NM_001009899		113376111	-1	tier1		no_errors	ENST00000316407	ensembl	human	known	74_37	in_frame_ins	18.92	30	7	INS	0.543:0.994	TGC
KIDINS220	57498	genome.wustl.edu	37	2	8934033	8934033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:8934033G>A	ENST00000256707.3	-	12	1364	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.R395*|KIDINS220_ENST00000319688.5_Nonsense_Mutation_p.R396*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.R395*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.R353*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	395					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAAAGTAATCGCCCATCTTTG	0.393																																																	0													89.0	82.0	84.0					2																	8934033		1823	4077	5900	SO:0001587	stop_gained	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1183C>T	2.37:g.8934033G>A	ENSP00000256707:p.Arg395*		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Nonsense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R395*	ENST00000256707.3	37	c.1183	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	g	25.7	4.663398	0.88251	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	.	.	.	5.83	1.62	0.23740	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6331	0.85039	0.0:0.0:0.354:0.646	.	.	.	.	X	142;79;395;395;353;395;396;396	.	ENSP00000256707:R395X	R	-	1	2	KIDINS220	8851484	0.994000	0.37717	0.002000	0.10522	0.010000	0.07245	1.883000	0.39658	0.311000	0.23014	0.632000	0.83419	CGA	KIDINS220	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000134313		0.393	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2		0.00	66	0	G	NM_020738		8934033	-1			no_errors	ENST00000256707	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	0.059	A
KIF13A	63971	genome.wustl.edu	37	6	17788023	17788023	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:17788023delT	ENST00000259711.6	-	27	3450	c.3345delA	c.(3343-3345)aaafs	p.K1115fs	KIF13A_ENST00000378826.2_Frame_Shift_Del_p.K1115fs|KIF13A_ENST00000378843.2_Frame_Shift_Del_p.K1102fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.K1115fs|KIF13A_ENST00000378814.5_Frame_Shift_Del_p.K1102fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1115					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TATTGCTGACTTTTTTTATCT	0.413																																																	0													304.0	278.0	286.0					6																	17788023		1868	4107	5975	SO:0001589	frameshift_variant	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3345delA	6.37:g.17788023delT	ENSP00000259711:p.Lys1115fs		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V1116fs	ENST00000259711.6	37	c.3345	CCDS47381.1	6																																																																																			KIF13A	-	NULL	ENSG00000137177		0.413	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4		0.00	83	0	T			17788023	-1	tier1		no_errors	ENST00000259711	ensembl	human	known	74_37	frame_shift_del	16.83	84	17	DEL	1.000	-
KIF13B	23303	genome.wustl.edu	37	8	28974483	28974483	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:28974483G>A	ENST00000524189.1	-	31	3740	c.3702C>T	c.(3700-3702)tgC>tgT	p.C1234C	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1234					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGAGCTGAGGGCAGCCATGCA	0.577																																																	0													59.0	63.0	62.0					8																	28974483		2018	4169	6187	SO:0001819	synonymous_variant	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3702C>T	8.37:g.28974483G>A			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.C1234	ENST00000524189.1	37	c.3702	CCDS55217.1	8																																																																																			KIF13B	-	pfam_Kinesin-like	ENSG00000197892		0.577	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1		0.00	27	0	G			28974483	-1			no_errors	ENST00000524189	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.785	A
KIF14	9928	genome.wustl.edu	37	1	200524515	200524515	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:200524515G>A	ENST00000367350.4	-	28	4859	c.4421C>T	c.(4420-4422)tCg>tTg	p.S1474L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1474	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TACAATTTTCGATTCAGCAAA	0.249																																																	0													51.0	55.0	54.0					1																	200524515		2201	4285	6486	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4421C>T	1.37:g.200524515G>A	ENSP00000356319:p.Ser1474Leu		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1474L	ENST00000367350.4	37	c.4421	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855742	0.32791	.	.	ENSG00000118193	ENST00000367350	T	0.71817	-0.6	5.09	3.23	0.37069	.	0.371964	0.28914	N	0.013736	T	0.44540	0.1298	N	0.08118	0	0.26871	N	0.967749	B	0.02656	0.0	B	0.01281	0.0	T	0.22521	-1.0214	10	0.09843	T	0.71	.	9.3732	0.38268	0.1598:0.6801:0.1601:0.0	.	1474	Q15058	KIF14_HUMAN	L	1474	ENSP00000356319:S1474L	ENSP00000356319:S1474L	S	-	2	0	KIF14	198791138	1.000000	0.71417	0.964000	0.40570	0.865000	0.49528	1.427000	0.34881	0.727000	0.32360	-0.823000	0.03104	TCG	KIF14	-	NULL	ENSG00000118193		0.249	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	-	0.00	93	0	G	NM_014875		200524515	-1	tier1	-	no_errors	ENST00000367350	ensembl	human	known	74_37	missense	26.37	67	24	SNP	0.995	A
KIF1A	547	genome.wustl.edu	37	2	241725901	241725901	+	Silent	SNP	G	G	A	rs201515208		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:241725901G>A	ENST00000320389.7	-	6	617	c.459C>T	c.(457-459)cgC>cgT	p.R153R	KIF1A_ENST00000498729.2_Silent_p.R153R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	153	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCACGGACGCGCTCACAGT	0.652																																																	0								G		0,4168		0,0,2084	107.0	112.0	111.0		459	-9.1	0.2	2		111	2,8450		0,2,4224	no	coding-synonymous	KIF1A	NM_004321.5		0,2,6308	AA,AG,GG		0.0237,0.0,0.0158		153/1691	241725901	2,12618	2084	4226	6310	SO:0001819	synonymous_variant	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.459C>T	2.37:g.241725901G>A			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R153	ENST00000320389.7	37	c.459	CCDS46561.1	2																																																																																			KIF1A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000130294		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	-	0.00	50	0	G	NM_138483		241725901	-1	tier1	rs201515208	no_errors	ENST00000498729	ensembl	human	known	74_37	silent	13.51	32	5	SNP	0.001	A
KIF27	55582	genome.wustl.edu	37	9	86465154	86465155	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:86465154_86465155insT	ENST00000297814.2	-	16	3558_3559	c.3415_3416insA	c.(3415-3417)atgfs	p.M1139fs	KIF27_ENST00000334204.2_Frame_Shift_Ins_p.M1042fs|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|KIF27_ENST00000413982.1_Frame_Shift_Ins_p.M1073fs|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1139					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CAGAACTTTCATTTTCATTTCT	0.381																																																	0																																										SO:0001589	frameshift_variant	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3416dupA	9.37:g.86465158_86465158dupT	ENSP00000297814:p.Met1139fs		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M1139fs	ENST00000297814.2	37	c.3416_3415	CCDS6665.1	9																																																																																			KIF27	-	NULL	ENSG00000165115		0.381	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1		0.00	116	0	-	NM_017576		86465155	-1	tier1		no_errors	ENST00000297814	ensembl	human	known	74_37	frame_shift_ins	10.00	90	10	INS	1.000:1.000	T
KIFC1	3833	genome.wustl.edu	37	6	33374231	33374231	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:33374231C>T	ENST00000428849.2	+	8	2245	c.1795C>T	c.(1795-1797)Ctg>Ttg	p.L599L		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	599	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CCTGTCCACGCTGGGGCTGGT	0.647																																																	0													37.0	41.0	40.0					6																	33374231		2203	4300	6503	SO:0001819	synonymous_variant	0			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1795C>T	6.37:g.33374231C>T			O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L599	ENST00000428849.2	37	c.1795	CCDS34430.1	6																																																																																			KIFC1	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000237649		0.647	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	-	0.00	43	0	C	NM_002263		33374231	+1	tier1	-	no_errors	ENST00000428849	ensembl	human	known	74_37	silent	26.67	44	16	SNP	0.999	T
KITLG	4254	genome.wustl.edu	37	12	88890764	88890764	+	3'UTR	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:88890764T>A	ENST00000228280.5	-	0	1236				KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000347404.5_3'UTR	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand						cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						AGAGTCCTGCTCCATGCAAGT	0.403									Testicular Cancer, Familial Clustering of																																								0																																										SO:0001624	3_prime_UTR_variant	0	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.*232A>T	12.37:g.88890764T>A			A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	RNA	SNP	-	NULL	ENST00000228280.5	37	NULL	CCDS31868.1	12																																																																																			KITLG	-	-	ENSG00000049130		0.403	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KITLG	HGNC	protein_coding	OTTHUMT00000406424.2	-	0.00	51	0	T	NM_003994		88890764	-1	tier1	-	no_errors	ENST00000378535	ensembl	human	known	74_37	rna	16.00	42	8	SNP	1.000	A
KLF10	7071	genome.wustl.edu	37	8	103662433	103662433	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:103662433A>G	ENST00000285407.6	-	4	1670	c.1370T>C	c.(1369-1371)cTa>cCa	p.L457P	KLF10_ENST00000395884.3_Missense_Mutation_p.L446P	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	457					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CCAGTTTGGTAGCTTCTTGGC	0.527																																					Esophageal Squamous(16;495 519 2144 16528 44005)												0													162.0	138.0	146.0					8																	103662433		2203	4300	6503	SO:0001583	missense	0			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1370T>C	8.37:g.103662433A>G	ENSP00000285407:p.Leu457Pro		A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L457P	ENST00000285407.6	37	c.1370	CCDS6294.1	8	.	.	.	.	.	.	.	.	.	.	A	15.51	2.856046	0.51376	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.14766	2.48;2.54	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000020	T	0.28962	0.0719	L	0.43152	1.355	0.80722	D	1	B;D	0.71674	0.249;0.998	B;D	0.63488	0.336;0.915	T	0.00756	-1.1579	10	0.59425	D	0.04	.	16.1354	0.81481	1.0:0.0:0.0:0.0	.	457;446	Q13118;O75411	KLF10_HUMAN;.	P	457;446	ENSP00000285407:L457P;ENSP00000379222:L446P	ENSP00000285407:L457P	L	-	2	0	KLF10	103731609	0.929000	0.31497	1.000000	0.80357	0.993000	0.82548	3.024000	0.49674	2.207000	0.71202	0.533000	0.62120	CTA	KLF10	-	NULL	ENSG00000155090		0.527	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF10	HGNC	protein_coding	OTTHUMT00000379967.1	-	0.00	51	0	A			103662433	-1	tier1	-	no_errors	ENST00000285407	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.943	G
KLF15	28999	genome.wustl.edu	37	3	126071448	126071448	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:126071448delC	ENST00000296233.3	-	2	548	c.318delG	c.(316-318)gggfs	p.G106fs	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	106					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TTCGCCAGGGCCCCCAGGCCA	0.657																																																	0													10.0	12.0	11.0					3																	126071448		2168	4262	6430	SO:0001589	frameshift_variant	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.318delG	3.37:g.126071448delC	ENSP00000296233:p.Gly106fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W108fs	ENST00000296233.3	37	c.318	CCDS3036.1	3																																																																																			KLF15	-	NULL	ENSG00000163884		0.657	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1		0.00	25	0	C	NM_014079		126071448	-1	tier1		no_errors	ENST00000296233	ensembl	human	known	74_37	frame_shift_del	28.57	10	4	DEL	0.677	-
KLF17	128209	genome.wustl.edu	37	1	44596234	44596234	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:44596234C>T	ENST00000372299.3	+	3	1034	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	326					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTCTTTCTTCCGTTCTGATGA	0.458																																																	0													149.0	136.0	140.0					1																	44596234		2203	4300	6503	SO:0001583	missense	0			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.976C>T	1.37:g.44596234C>T	ENSP00000361373:p.Arg326Cys		Q86VQ7|Q8N805	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R326C	ENST00000372299.3	37	c.976	CCDS508.1	1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927476	0.34002	.	.	ENSG00000171872	ENST00000372299	T	0.71698	-0.59	4.47	3.56	0.40772	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.280447	0.26062	N	0.026574	T	0.78419	0.4280	M	0.62723	1.935	0.52501	D	0.999951	D	0.89917	1.0	D	0.68621	0.959	T	0.79222	-0.1892	10	0.87932	D	0	.	8.3224	0.32136	0.0:0.8957:0.0:0.1043	.	326	Q5JT82	KLF17_HUMAN	C	326	ENSP00000361373:R326C	ENSP00000361373:R326C	R	+	1	0	KLF17	44368821	1.000000	0.71417	0.979000	0.43373	0.311000	0.27955	5.318000	0.65829	1.485000	0.48380	0.561000	0.74099	CGT	KLF17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171872		0.458	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF17	HGNC	protein_coding	OTTHUMT00000026646.1	-	0.00	49	0	C	NM_173484		44596234	+1	tier1	-	no_errors	ENST00000372299	ensembl	human	known	74_37	missense	14.29	35	6	SNP	1.000	T
KLF3	51274	genome.wustl.edu	37	4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:38690460delA	ENST00000261438.5	+	3	617	c.312delA	c.(310-312)atafs	p.I104fs	KLF3_ENST00000514033.1_Frame_Shift_Del_p.I104fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	104	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GCCCACCGATAAAAAAATACT	0.617																																																	0													69.0	70.0	69.0					4																	38690460		2203	4300	6503	SO:0001589	frameshift_variant	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.312delA	4.37:g.38690460delA	ENSP00000261438:p.Ile104fs		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K106fs	ENST00000261438.5	37	c.312	CCDS3444.1	4																																																																																			KLF3	-	NULL	ENSG00000109787		0.617	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2		0.00	34	0	A			38690460	+1	tier1		no_errors	ENST00000261438	ensembl	human	known	74_37	frame_shift_del	26.19	31	11	DEL	0.008	-
KLF4	9314	genome.wustl.edu	37	9	110249642	110249642	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:110249642C>T	ENST00000374672.4	-	3	1506	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	345	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TAATTGGGCCCCGGGTGGGGA	0.652																																																	0													19.0	18.0	18.0					9																	110249642		2202	4300	6502	SO:0001583	missense	0			AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1033G>A	9.37:g.110249642C>T	ENSP00000363804:p.Gly345Arg		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G345R	ENST00000374672.4	37	c.1033	CCDS6770.2	9	.	.	.	.	.	.	.	.	.	.	C	8.140	0.784933	0.16189	.	.	ENSG00000136826	ENST00000374672	T	0.05925	3.37	4.78	3.88	0.44766	.	0.161679	0.29335	N	0.012459	T	0.04227	0.0117	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.14012	0.006;0.009	B;B	0.16722	0.007;0.016	T	0.34900	-0.9810	10	0.54805	T	0.06	.	8.0576	0.30614	0.157:0.7608:0.0:0.0821	.	345;345	O43474;O43474-1	KLF4_HUMAN;.	R	345	ENSP00000363804:G345R	ENSP00000363804:G345R	G	-	1	0	KLF4	109289463	0.093000	0.21703	0.838000	0.33150	0.312000	0.27988	2.473000	0.45145	1.138000	0.42230	-0.229000	0.12294	GGG	KLF4	-	NULL	ENSG00000136826		0.652	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF4	HGNC	protein_coding	OTTHUMT00000053556.2	-	0.00	11	0	C	NM_004235		110249642	-1	tier1	-	no_errors	ENST00000374672	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.153	T
KLHL30	377007	genome.wustl.edu	37	2	239054401	239054401	+	Missense_Mutation	SNP	G	G	A	rs374030236		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:239054401G>A	ENST00000409223.1	+	5	1185	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M	KLHL30_ENST00000305959.4_Missense_Mutation_p.V342M			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	360										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGGAAGCCCGTGGCGCCCAT	0.652																																																	0								G	MET/VAL	0,4070		0,0,2035	24.0	31.0	29.0		1078	3.6	1.0	2		29	1,8345		0,1,4172	no	missense	KLHL30	NM_198582.3	21	0,1,6207	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	360/579	239054401	1,12415	2035	4173	6208	SO:0001583	missense	0				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1078G>A	2.37:g.239054401G>A	ENSP00000386389:p.Val360Met		Q6ZUS1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V360M	ENST00000409223.1	37	c.1078	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	G	17.67	3.445798	0.63178	0.0	1.2E-4	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.68765	-0.35;-0.35	4.62	3.59	0.41128	Kelch-type beta propeller (1);	0.182115	0.38111	N	0.001809	T	0.69780	0.3149	L	0.52011	1.625	0.37637	D	0.921881	D	0.89917	1.0	D	0.72982	0.979	T	0.70799	-0.4774	10	0.33141	T	0.24	.	3.5898	0.07985	0.3805:0.0:0.6195:0.0	.	360	Q0D2K2	KLH30_HUMAN	M	360;342	ENSP00000386389:V360M;ENSP00000302386:V342M	ENSP00000302386:V342M	V	+	1	0	KLHL30	238719140	1.000000	0.71417	0.962000	0.40283	0.775000	0.43874	4.614000	0.61183	2.113000	0.64589	0.542000	0.68232	GTG	KLHL30	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000168427		0.652	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	-	0.00	72	0	G	NM_198582		239054401	+1	tier1	-	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	37.33	47	28	SNP	0.969	A
KLHL30	377007	genome.wustl.edu	37	2	239059686	239059686	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:239059686G>A	ENST00000409223.1	+	8	1824	c.1717G>A	c.(1717-1719)Ggc>Agc	p.G573S	KLHL30_ENST00000305959.4_Missense_Mutation_p.G555S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	573										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCAGCCCTCCGGCCCCACCCA	0.687																																																	0													7.0	9.0	9.0					2																	239059686		1843	4067	5910	SO:0001583	missense	0				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1717G>A	2.37:g.239059686G>A	ENSP00000386389:p.Gly573Ser		Q6ZUS1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G573S	ENST00000409223.1	37	c.1717	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	A	2.171	-0.389811	0.04932	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.72167	-0.62;-0.63	4.47	-8.95	0.00765	.	2.069400	0.02014	N	0.047227	T	0.45776	0.1359	N	0.13043	0.29	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49093	-0.8975	10	0.05525	T	0.97	.	9.225	0.37400	0.0884:0.3292:0.5003:0.082	.	573	Q0D2K2	KLH30_HUMAN	S	573;555	ENSP00000386389:G573S;ENSP00000302386:G555S	ENSP00000302386:G555S	G	+	1	0	KLHL30	238724425	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	0.657000	0.24963	-4.084000	0.00075	-4.023000	0.00013	GGC	KLHL30	-	NULL	ENSG00000168427		0.687	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	-	0.00	59	0	G	NM_198582		239059686	+1	tier1	-	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	24.07	41	13	SNP	0.000	A
KLHL34	257240	genome.wustl.edu	37	X	21674919	21674920	+	In_Frame_Ins	INS	-	-	CTC			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:21674919_21674920insCTC	ENST00000379499.2	-	1	1528_1529	c.987_988insGAG	c.(985-990)gagtgg>gagGAGtgg	p.329_330insE		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	329	Glu-rich.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GTGAGCTCCCActcctcctcct	0.653																																																	0																																										SO:0001652	inframe_insertion	0			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.985_987dupGAG	X.37:g.21674926_21674928dupCTC	ENSP00000368813:p.Glu330_Glu331dup			In_Frame_Ins	INS	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.329in_frame_insE	ENST00000379499.2	37	c.988_987	CCDS14199.1	X																																																																																			KLHL34	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000185915		0.653	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL34	HGNC	protein_coding	OTTHUMT00000056022.1		0.00	17	0	-	NM_153270		21674920	-1	tier1		no_errors	ENST00000379499	ensembl	human	known	74_37	in_frame_ins	33.33	10	5	INS	0.997:0.870	CTC
KLHL4	56062	genome.wustl.edu	37	X	86772933	86772933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:86772933C>T	ENST00000373119.4	+	1	182	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Q13*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	13						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGATGTGAAACAGATCCTAAG	0.463																																																	0													118.0	108.0	112.0					X																	86772933		2203	4300	6503	SO:0001587	stop_gained	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.37C>T	X.37:g.86772933C>T	ENSP00000362211:p.Gln13*		B2RTW2|Q9Y3J5	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.Q13*	ENST00000373119.4	37	c.37	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	38	6.900027	0.97920	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.3817	0.83467	0.0:1.0:0.0:0.0	.	.	.	.	X	13	.	ENSP00000362206:Q13X	Q	+	1	0	KLHL4	86659589	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.842000	0.75379	2.327000	0.79052	0.513000	0.50165	CAG	KLHL4	-	NULL	ENSG00000102271		0.463	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	-	0.00	62	0	C			86772933	+1	tier1	-	no_errors	ENST00000373114	ensembl	human	known	74_37	nonsense	27.27	24	9	SNP	1.000	T
KLHL41	10324	genome.wustl.edu	37	2	170371230	170371230	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:170371230C>T	ENST00000284669.1	+	2	1334	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C	RP11-724O16.1_ENST00000513963.1_Silent_p.C357C|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Silent_p.C357C	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	419					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											CAGTATTATGCTATGATCCTG	0.423																																																	0													154.0	149.0	151.0					2																	170371230		2203	4300	6503	SO:0001819	synonymous_variant	0			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1257C>T	2.37:g.170371230C>T			Q53R42	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C419	ENST00000284669.1	37	c.1257	CCDS2234.1	2																																																																																			KLHL41	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000239474		0.423	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL41	HGNC	protein_coding	OTTHUMT00000255263.1	-	0.00	43	0	C	NM_006063		170371230	+1	tier1	-	no_errors	ENST00000284669	ensembl	human	known	74_37	silent	10.34	26	3	SNP	1.000	T
KLHL6	89857	genome.wustl.edu	37	3	183245687	183245687	+	Silent	SNP	C	C	T	rs141903870	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:183245687C>T	ENST00000341319.3	-	2	440	c.405G>A	c.(403-405)gcG>gcA	p.A135A	KLHL6_ENST00000487643.1_5'UTR	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	135	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGGTGATCAGCGCCTTGCTGG	0.483																																																	0								C		0,4406		0,0,2203	203.0	172.0	182.0		405	1.3	1.0	3	dbSNP_134	182	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	KLHL6	NM_130446.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		135/622	183245687	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.405G>A	3.37:g.183245687C>T			B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A135	ENST00000341319.3	37	c.405	CCDS3245.2	3																																																																																			KLHL6	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000172578		0.483	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	-	0.00	49	0	C	NM_130446		183245687	-1	tier1	rs141903870	no_errors	ENST00000341319	ensembl	human	known	74_37	silent	33.33	34	17	SNP	1.000	T
KLK4	9622	genome.wustl.edu	37	19	51410328	51410328	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:51410328delC	ENST00000324041.1	-	5	626	c.627delG	c.(625-627)gggfs	p.G209fs	KLK4_ENST00000431178.2_3'UTR|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AGATCAGGGGCCCCCCAGAGT	0.527																																																	0													39.0	40.0	40.0					19																	51410328		2203	4300	6503	SO:0001589	frameshift_variant	0			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.627delG	19.37:g.51410328delC	ENSP00000326159:p.Gly209fs		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Frame_Shift_Del	DEL	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L211fs	ENST00000324041.1	37	c.627	CCDS12809.1	19																																																																																			KLK4	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000167749		0.527	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK4	HGNC	protein_coding	OTTHUMT00000464449.1		0.00	64	0	C	NM_004917		51410328	-1			no_errors	ENST00000324041	ensembl	human	known	74_37	frame_shift_del	12.96	47	7	DEL	0.723	0
KMT2B	9757	genome.wustl.edu	37	19	36212475	36212475	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36212475G>T	ENST00000222270.7	+	3	2226	c.2226G>T	c.(2224-2226)caG>caT	p.Q742H	KMT2B_ENST00000420124.1_Missense_Mutation_p.Q742H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	742	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGCCCCTGCAGGCCTTGCAAA	0.652																																																	0																																										SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2226G>T	19.37:g.36212475G>T	ENSP00000222270:p.Gln742His		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q742H	ENST00000222270.7	37	c.2226	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	8.873	0.949861	0.18431	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84070	-1.8;-1.8	4.29	-1.77	0.07982	.	0.257041	0.20593	N	0.089312	T	0.64994	0.2649	N	0.14661	0.345	0.26732	N	0.970572	P	0.38922	0.651	B	0.37833	0.259	T	0.60566	-0.7238	10	0.46703	T	0.11	.	8.3435	0.32258	0.4851:0.0:0.5149:0.0	.	742	Q9UMN6	MLL4_HUMAN	H	742	ENSP00000222270:Q742H;ENSP00000398837:Q742H	ENSP00000222270:Q742H	Q	+	3	2	AD000671.1	40904315	0.997000	0.39634	0.675000	0.29917	0.543000	0.35085	1.342000	0.33919	-0.175000	0.10725	-0.402000	0.06365	CAG	KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.652	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0.00	149	0	G	NM_014727		36212475	+1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	17.86	69	15	SNP	0.921	T
KMT2B	9757	genome.wustl.edu	37	19	36227710	36227710	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36227710G>T	ENST00000222270.7	+	31	7279	c.7279G>T	c.(7279-7281)Gag>Tag	p.E2427*	KMT2B_ENST00000420124.1_Nonsense_Mutation_p.E2427*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2427	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTTCAGCGTTGAGGCAGAGAG	0.582																																																	0													81.0	88.0	85.0					19																	36227710		2149	4263	6412	SO:0001587	stop_gained	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7279G>T	19.37:g.36227710G>T	ENSP00000222270:p.Glu2427*		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E2427*	ENST00000222270.7	37	c.7279	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	47	13.863299	0.99767	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	5.7	5.7	0.88788	.	0.000000	0.43260	D	0.000581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	13.4033	0.60896	0.0:0.2655:0.7345:0.0	.	.	.	.	X	2427	.	ENSP00000222270:E2427X	E	+	1	0	AD000671.1	40919550	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.383000	0.44354	2.675000	0.91044	0.655000	0.94253	GAG	KMT2B	-	pirsf_MeTrfase_trithorax,pfam_FYrich_C,smart_FYrich_C	ENSG00000272333		0.582	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0.00	45	0	G	NM_014727		36227710	+1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	nonsense	61.54	10	16	SNP	0.999	T
KMT2B	9757	genome.wustl.edu	37	19	36227817	36227817	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36227817G>A	ENST00000222270.7	+	32	7302	c.7302G>A	c.(7300-7302)gcG>gcA	p.A2434A	KMT2B_ENST00000420124.1_Silent_p.A2434A|IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2434	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCCAGGGGCGTGGAGAACTC	0.602																																																	0													45.0	51.0	49.0					19																	36227817		2135	4253	6388	SO:0001819	synonymous_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7302G>A	19.37:g.36227817G>A			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.A2434	ENST00000222270.7	37	c.7302	CCDS46055.1	19																																																																																			KMT2B	-	pirsf_MeTrfase_trithorax,pfam_FYrich_C,smart_FYrich_C	ENSG00000272333		0.602	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0.00	48	0	G	NM_014727		36227817	+1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.263	A
KMT2C	58508	genome.wustl.edu	37	7	151882652	151882652	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:151882652T>C	ENST00000262189.6	-	34	5291	c.5073A>G	c.(5071-5073)gcA>gcG	p.A1691A	KMT2C_ENST00000355193.2_Silent_p.A1691A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1691					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCACATATGGTGCTCTTTCTT	0.313																																																	0													140.0	120.0	127.0					7																	151882652		2202	4300	6502	SO:0001819	synonymous_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5073A>G	7.37:g.151882652T>C			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A1691	ENST00000262189.6	37	c.5073	CCDS5931.1	7																																																																																			KMT2C	-	superfamily_HMG_box_dom,smart_HMG_box_dom	ENSG00000055609		0.313	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0.00	55	0	T			151882652	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	silent	30.77	54	24	SNP	0.985	C
KMT2D	8085	genome.wustl.edu	37	12	49425056	49425056	+	Missense_Mutation	SNP	G	G	A	rs562043836		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:49425056G>A	ENST00000301067.7	-	39	13431	c.13432C>T	c.(13432-13434)Cgg>Tgg	p.R4478W		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4478				R -> Q (in Ref. 1; AAC51734/AAC51735). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCGGACCCCCGCCCAGTGCTG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19101	0.0		0.0	False		,,,				2504	0.001																0													70.0	76.0	74.0					12																	49425056		2037	4193	6230	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13432C>T	12.37:g.49425056G>A	ENSP00000301067:p.Arg4478Trp		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R4478W	ENST00000301067.7	37	c.13432	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689780	0.29962	.	.	ENSG00000167548	ENST00000301067	D	0.86230	-2.09	5.57	5.57	0.84162	.	0.000000	0.35096	N	0.003457	D	0.83672	0.5305	L	0.27053	0.805	0.58432	D	0.999991	D	0.65815	0.995	P	0.45474	0.482	D	0.86269	0.1660	10	0.87932	D	0	.	18.6999	0.91617	0.0:0.0:1.0:0.0	.	4478	O14686	MLL2_HUMAN	W	4478	ENSP00000301067:R4478W	ENSP00000301067:R4478W	R	-	1	2	MLL2	47711323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.611000	0.74183	2.793000	0.96121	0.655000	0.94253	CGG	KMT2D	-	NULL	ENSG00000167548		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0.00	42	0	G			49425056	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	A
KNTC1	9735	genome.wustl.edu	37	12	123082350	123082350	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:123082350C>T	ENST00000333479.7	+	44	4605	c.4428C>T	c.(4426-4428)ggC>ggT	p.G1476G	KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1476					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.G1476G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CAAATGCCGGCCAAGGCCAGG	0.502																																																	1	Substitution - coding silent(1)	endometrium(1)											93.0	92.0	92.0					12																	123082350		2040	4202	6242	SO:0001819	synonymous_variant	0				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4428C>T	12.37:g.123082350C>T			A7E2C4|B3KSG2	Silent	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.G1476	ENST00000333479.7	37	c.4428	CCDS45002.1	12																																																																																			KNTC1	-	NULL	ENSG00000184445		0.502	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0.00	47	0	C			123082350	+1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	silent	12.24	43	6	SNP	0.718	T
KREMEN1	83999	genome.wustl.edu	37	22	29490351	29490351	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:29490351A>G	ENST00000407188.1	+	2	197	c.197A>G	c.(196-198)tAc>tGc	p.Y66C	KREMEN1_ENST00000327813.5_Missense_Mutation_p.Y68C|KREMEN1_ENST00000400335.4_Missense_Mutation_p.Y68C|KREMEN1_ENST00000400338.2_Missense_Mutation_p.Y68C			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	66	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CAGCATCCATACAACACTCTG	0.483																																																	0													83.0	80.0	81.0					22																	29490351		1891	4102	5993	SO:0001583	missense	0			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.197A>G	22.37:g.29490351A>G	ENSP00000385431:p.Tyr66Cys		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.Y68C	ENST00000407188.1	37	c.203	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884568	0.72410	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000030	D	0.86276	0.5894	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89986	0.4104	10	0.87932	D	0	.	12.9508	0.58399	1.0:0.0:0.0:0.0	.	68;68	Q96MU8-2;Q96MU8-3	.;.	C	68;68;68;66	ENSP00000383189:Y68C;ENSP00000383192:Y68C;ENSP00000331242:Y68C;ENSP00000385431:Y66C	ENSP00000331242:Y68C	Y	+	2	0	KREMEN1	27820351	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.986000	0.76200	2.017000	0.59298	0.528000	0.53228	TAC	KREMEN1	-	pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000183762		0.483	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	-	0.00	63	0	A			29490351	+1	tier1	-	no_errors	ENST00000327813	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	G
KRT1	3848	genome.wustl.edu	37	12	53069218	53069218	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:53069218C>T	ENST00000252244.3	-	9	1752	c.1694G>A	c.(1693-1695)aGc>aAc	p.S565N		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	565	Gly/Ser-rich.|Tail.		Missing (in allele 1B). {ECO:0000269|PubMed:1281859}.		complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						agagccatagctgccacctcc	0.706																																																	0													4.0	5.0	5.0					12																	53069218		1794	3638	5432	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1694G>A	12.37:g.53069218C>T	ENSP00000252244:p.Ser565Asn		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S565N	ENST00000252244.3	37	c.1694	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	c	10.54	1.379431	0.24944	.	.	ENSG00000167768	ENST00000252244	D	0.84370	-1.84	0.736	0.736	0.18307	.	.	.	.	.	T	0.68476	0.3005	N	0.08118	0	0.09310	N	1	B	0.30211	0.273	B	0.35899	0.213	T	0.58509	-0.7624	9	0.23891	T	0.37	.	4.9298	0.13912	0.0:1.0:0.0:0.0	.	565	P04264	K2C1_HUMAN	N	565	ENSP00000252244:S565N	ENSP00000252244:S565N	S	-	2	0	KRT1	51355485	0.000000	0.05858	0.064000	0.19789	0.307000	0.27823	0.271000	0.18626	0.721000	0.32231	0.435000	0.28638	AGC	KRT1	-	NULL	ENSG00000167768		0.706	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	-	0.00	91	0	C	NM_006121		53069218	-1	tier1	-	no_errors	ENST00000252244	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.293	T
KRT23	25984	genome.wustl.edu	37	17	39092612	39092612	+	Missense_Mutation	SNP	G	G	A	rs376489003		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:39092612G>A	ENST00000209718.3	-	2	668	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000582283.1_5'Flank	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	82	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GAGGCCAGGCGGTCGTTGAGA	0.617																																																	0								G	CYS/ARG	0,4406		0,0,2203	102.0	103.0	102.0		244	5.6	1.0	17		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT23	NM_015515.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	82/423	39092612	1,13005	2203	4300	6503	SO:0001583	missense	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.244C>T	17.37:g.39092612G>A	ENSP00000209718:p.Arg82Cys		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.R82C	ENST00000209718.3	37	c.244	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285621	0.80803	0.0	1.16E-4	ENSG00000108244	ENST00000209718	D	0.94138	-3.36	5.57	5.57	0.84162	Filament (1);	0.000000	0.56097	D	0.000031	D	0.96682	0.8917	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96883	0.9647	10	0.87932	D	0	.	19.5528	0.95328	0.0:0.0:1.0:0.0	.	82	Q9C075	K1C23_HUMAN	C	82	ENSP00000209718:R82C	ENSP00000209718:R82C	R	-	1	0	KRT23	36346138	1.000000	0.71417	0.990000	0.47175	0.347000	0.29111	9.842000	0.99487	2.630000	0.89119	0.557000	0.71058	CGC	KRT23	-	pfam_IF	ENSG00000108244		0.617	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1		0.00	141	0	G			39092612	-1			no_errors	ENST00000209718	ensembl	human	known	74_37	missense	5.15	92	5	SNP	1.000	A
KRT40	125115	genome.wustl.edu	37	17	39135256	39135256	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:39135256G>A	ENST00000398486.2	-	8	1156	c.996C>T	c.(994-996)acC>acT	p.T332T	KRT40_ENST00000377755.4_Silent_p.T332T	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	332	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TTTCTGCCACGGTGCATTCCA	0.552																																																	0													73.0	81.0	78.0					17																	39135256		2190	4281	6471	SO:0001819	synonymous_variant	0			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.996C>T	17.37:g.39135256G>A			Q6IFU5	Silent	SNP	pfam_IF,prints_Keratin_I	p.T332	ENST00000398486.2	37	c.996	CCDS42320.1	17																																																																																			KRT40	-	pfam_IF	ENSG00000204889		0.552	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT40	HGNC	protein_coding	OTTHUMT00000257701.3	-	0.00	34	0	G	NM_182497		39135256	-1	tier1	-	no_errors	ENST00000377755	ensembl	human	known	74_37	silent	22.58	24	7	SNP	0.000	A
KRT19	3880	genome.wustl.edu	37	17	39684217	39684217	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:39684217G>T	ENST00000361566.3	-	1	343	c.283C>A	c.(283-285)Ctg>Atg	p.L95M		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	95	Coil 1A.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				ACCTTGTCCAGGTAGGAGGCC	0.692																																																	0													56.0	63.0	61.0					17																	39684217		2202	4299	6501	SO:0001583	missense	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.283C>A	17.37:g.39684217G>T	ENSP00000355124:p.Leu95Met		B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.L95M	ENST00000361566.3	37	c.283	CCDS11399.1	17	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813313	0.90707	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.91180	-2.8;-2.8	4.83	3.84	0.44239	Filament (1);	0.000000	0.36815	N	0.002397	D	0.94272	0.8160	M	0.79805	2.47	0.51233	D	0.999918	D	0.89917	1.0	D	0.97110	1.0	D	0.93678	0.6996	10	0.72032	D	0.01	.	8.4225	0.32710	0.083:0.0:0.7633:0.1536	.	95	P08727	K1C19_HUMAN	M	95	ENSP00000355124:L95M;ENSP00000408759:L95M	ENSP00000355124:L95M	L	-	1	2	KRT19	36937743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.513000	0.60476	1.128000	0.42052	0.462000	0.41574	CTG	KRT19	-	pfam_IF	ENSG00000171345		0.692	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	HGNC	protein_coding	OTTHUMT00000257285.1	-	0.00	236	0	G	NM_002276		39684217	-1	tier1	-	no_errors	ENST00000361566	ensembl	human	known	74_37	missense	30.53	157	69	SNP	1.000	T
KRT6A	3853	genome.wustl.edu	37	12	52885367	52885367	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:52885367G>A	ENST00000330722.6	-	2	762	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	232	Coil 1B.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGCGGCCCCGTTCCCCGACA	0.567																																																	0													114.0	111.0	112.0					12																	52885367		2203	4300	6503	SO:0001583	missense	0			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.694C>T	12.37:g.52885367G>A	ENSP00000369317:p.Arg232Trp		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R232W	ENST00000330722.6	37	c.694	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	g	12.58	1.982082	0.34942	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.90676	-2.71	5.26	1.25	0.21368	Filament (1);	0.307385	0.27126	N	0.020819	D	0.96537	0.8870	H	0.96430	3.82	0.18873	N	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.91656	0.5338	10	0.87932	D	0	.	15.1925	0.73057	0.0:0.0:0.5074:0.4926	.	232	P02538	K2C6A_HUMAN	W	232;188	ENSP00000369317:R232W	ENSP00000369317:R232W	R	-	1	2	KRT6A	51171634	0.937000	0.31787	0.013000	0.15412	0.026000	0.11368	2.161000	0.42358	0.379000	0.24794	-0.397000	0.06425	CGG	KRT6A	-	pfam_IF	ENSG00000205420		0.567	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	-	0.00	118	0	G	NM_005554		52885367	-1	tier1	-	no_errors	ENST00000330722	ensembl	human	known	74_37	missense	23.60	68	21	SNP	0.221	A
KRT84	3890	genome.wustl.edu	37	12	52771912	52771913	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:52771912_52771913insG	ENST00000257951.3	-	9	1774_1775	c.1708_1709insC	c.(1708-1710)ctgfs	p.L570fs	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	570	Tail.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGGGTGGGCAGGGGGCAGGGG	0.703																																																	0																																										SO:0001589	frameshift_variant	0			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1709dupC	12.37:g.52771917_52771917dupG	ENSP00000257951:p.Leu570fs		B2RA43|Q6ISB0|Q701L6	Frame_Shift_Ins	INS	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.L570fs	ENST00000257951.3	37	c.1709_1708	CCDS8825.1	12																																																																																			KRT84	-	NULL	ENSG00000161849		0.703	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	HGNC	protein_coding	OTTHUMT00000405187.1		0.00	59	0	-	NM_033045		52771913	-1	tier1		no_errors	ENST00000257951	ensembl	human	known	74_37	frame_shift_ins	16.28	36	7	INS	0.994:0.994	G
KRT72	140807	genome.wustl.edu	37	12	52985384	52985384	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:52985384C>T	ENST00000537672.2	-	5	837	c.827G>A	c.(826-828)aGc>aAc	p.S276N	KRT72_ENST00000354310.4_Missense_Mutation_p.S276N|KRT72_ENST00000293745.2_Missense_Mutation_p.S276N|KRT72_ENST00000398066.3_Missense_Mutation_p.S88N	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	276	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GGACGTGTCGCTGATGTGGGA	0.572																																																	0													153.0	129.0	137.0					12																	52985384		2203	4300	6503	SO:0001583	missense	0			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.827G>A	12.37:g.52985384C>T	ENSP00000441160:p.Ser276Asn		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S276N	ENST00000537672.2	37	c.827	CCDS8833.1	12	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129597	0.56721	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.33	4.33	0.51752	Filament (1);	0.000000	0.64402	D	0.000007	D	0.94212	0.8142	M	0.89968	3.075	0.25260	N	0.98961	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	D	0.87313	0.2313	10	0.72032	D	0.01	.	8.5963	0.33718	0.0:0.6437:0.2733:0.083	.	276;276	B4DEI8;Q14CN4	.;K2C72_HUMAN	N	276;276;276;88	ENSP00000441160:S276N;ENSP00000293745:S276N;ENSP00000346269:S276N;ENSP00000446151:S88N	ENSP00000293745:S276N	S	-	2	0	KRT72	51271651	0.951000	0.32395	0.995000	0.50966	0.601000	0.36947	1.900000	0.39828	2.715000	0.92844	0.655000	0.94253	AGC	KRT72	-	pfam_IF,superfamily_Prefoldin	ENSG00000170486		0.572	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	-	0.00	82	0	C	NM_080747		52985384	-1	tier1	-	no_errors	ENST00000293745	ensembl	human	known	74_37	missense	12.50	70	10	SNP	0.963	T
KRTAP10-12	386685	genome.wustl.edu	37	21	46117509	46117509	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:46117509C>T	ENST00000400365.3	+	1	423	c.393C>T	c.(391-393)tgC>tgT	p.C131C	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	131	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CTTCTTCATGCTGCCAGCAGT	0.627																																																	0													139.0	141.0	140.0					21																	46117509		2203	4300	6503	SO:0001819	synonymous_variant	0			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.393C>T	21.37:g.46117509C>T			B2RPA3	Silent	SNP	NULL	p.C131	ENST00000400365.3	37	c.393	CCDS42967.1	21																																																																																			KRTAP10-12	-	NULL	ENSG00000189169		0.627	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-12	HGNC	protein_coding	OTTHUMT00000128032.1	-	0.00	169	0	C	NM_198699		46117509	+1	tier1	-	no_errors	ENST00000400365	ensembl	human	known	74_37	silent	17.97	105	23	SNP	0.989	T
KRTAP2-3	730755	genome.wustl.edu	37	17	39216157	39216157	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:39216157C>T	ENST00000391418.2	-	1	187	c.146G>A	c.(145-147)cGc>cAc	p.R49H		NM_001165252.1	NP_001158724.1	P0C7H8	KRA23_HUMAN	keratin associated protein 2-3	49	10 X 5 AA repeats of C-C-[CDPQRWG]- [APRS]-[CIPSTVD].					keratin filament (GO:0045095)											GCGCGTGCAGCGGGGCACGCA	0.761																																																	0													1.0	1.0	1.0					17																	39216157		276	869	1145	SO:0001583	missense	0			BC012486	CCDS54123.1	17q21.2	2012-08-03			ENSG00000212724	ENSG00000212724		"""Keratin associated proteins"""	18906	protein-coding gene	gene with protein product							Standard	NM_001165252		Approved	KAP2.3	uc002hvx.3	P0C7H8	OTTHUMG00000133655	ENST00000391418.2:c.146G>A	17.37:g.39216157C>T	ENSP00000375237:p.Arg49His			Missense_Mutation	SNP	pfam_Keratin-assoc	p.R49H	ENST00000391418.2	37	c.146	CCDS54123.1	17	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432137	0.62844	.	.	ENSG00000212724	ENST00000391418	T	0.32023	1.47	5.63	0.137	0.14787	.	1.389680	0.05259	N	0.515458	T	0.22360	0.0539	.	.	.	0.23559	N	0.997411	B	0.13594	0.008	B	0.08055	0.003	T	0.28681	-1.0036	9	0.42905	T	0.14	.	7.7049	0.28644	0.0:0.4956:0.0:0.5044	.	49	Q9BYR9	KRA24_HUMAN	H	49	ENSP00000375237:R49H	ENSP00000375237:R49H	R	-	2	0	KRTAP2-3	36469683	0.944000	0.32072	0.995000	0.50966	0.993000	0.82548	-0.097000	0.11042	-0.182000	0.10602	0.556000	0.70494	CGC	KRTAP2-3	-	pfam_Keratin-assoc	ENSG00000212724		0.761	KRTAP2-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP2-3	HGNC	protein_coding	OTTHUMT00000257692.1	-	0.00	45	0	C	NM_001165252		39216157	-1	tier1	-	no_errors	ENST00000391418	ensembl	human	known	74_37	missense	37.74	33	20	SNP	0.994	T
KRTAP5-5	439915	genome.wustl.edu	37	11	1651172	1651172	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:1651172C>T	ENST00000399676.2	+	1	140	c.102C>T	c.(100-102)ggC>ggT	p.G34G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	34						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gtggctctggctgtgggggct	0.721																																																	0													19.0	29.0	26.0					11																	1651172		1948	3961	5909	SO:0001819	synonymous_variant	0			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.102C>T	11.37:g.1651172C>T			A8MWN2	Silent	SNP	NULL	p.G34	ENST00000399676.2	37	c.102	CCDS41592.1	11																																																																																			KRTAP5-5	-	NULL	ENSG00000185940		0.721	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1	-	0.00	150	0	C			1651172	+1	tier1	-	no_errors	ENST00000399676	ensembl	human	known	74_37	silent	9.66	159	17	SNP	0.993	T
KSR1	8844	genome.wustl.edu	37	17	25915549	25915549	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:25915549C>T	ENST00000319524.6	+	6	1034	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L	KSR1_ENST00000398988.3_Missense_Mutation_p.S208L|KSR1_ENST00000268763.6_Missense_Mutation_p.S208L|KSR1_ENST00000509603.2_Missense_Mutation_p.S345L|KSR1_ENST00000581975.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	345					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ATCGGGCTGTCGGTGACGCAC	0.647																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0													26.0	27.0	27.0					17																	25915549		2064	4193	6257	SO:0001583	missense	0			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1034C>T	17.37:g.25915549C>T	ENSP00000323178:p.Ser345Leu		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S345L	ENST00000319524.6	37	c.1034		17	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851851	0.51270	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.56103	0.48;0.48;0.48	6.03	6.03	0.97812	.	0.287776	0.39615	N	0.001320	T	0.54983	0.1892	M	0.77103	2.36	0.41827	D	0.99005	P;P	0.43287	0.802;0.6	B;B	0.33521	0.053;0.165	T	0.63238	-0.6682	10	0.52906	T	0.07	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	343;345	Q8IVT5;F5H0K8	KSR1_HUMAN;.	L	345;345;208;208	ENSP00000323178:S345L;ENSP00000438795:S345L;ENSP00000268763:S208L	ENSP00000268763:S208L	S	+	2	0	KSR1	22939676	1.000000	0.71417	0.136000	0.22124	0.028000	0.11728	7.158000	0.77470	2.861000	0.98227	0.655000	0.94253	TCG	KSR1	-	NULL	ENSG00000141068		0.647	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		-	0.00	87	0	C	NM_014238		25915549	+1	tier1	-	no_errors	ENST00000319524	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.867	T
KSR2	283455	genome.wustl.edu	37	12	117923482	117923482	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:117923482C>T	ENST00000339824.5	-	15	2961	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.R716Q			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	745	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATAGAGCGTCCGTCCCTTACA	0.448																																																	0													104.0	97.0	99.0					12																	117923482		1916	4132	6048	SO:0001583	missense	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2234G>A	12.37:g.117923482C>T	ENSP00000339952:p.Arg745Gln		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R745Q	ENST00000339824.5	37	c.2234		12	.	.	.	.	.	.	.	.	.	.	C	32	5.185363	0.94885	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.82526	-1.62;-1.62	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90287	0.6962	M	0.62209	1.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	D	0.89874	0.4025	10	0.56958	D	0.05	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	745	Q6VAB6	KSR2_HUMAN	Q	716;745	ENSP00000389715:R716Q;ENSP00000339952:R745Q	ENSP00000339952:R745Q	R	-	2	0	KSR2	116407865	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.763000	0.85283	2.716000	0.92895	0.655000	0.94253	CGG	KSR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000171435		0.448	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	-	0.00	31	0	C	NM_173598		117923482	-1	tier1	-	no_errors	ENST00000339824	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	T
L3MBTL4	91133	genome.wustl.edu	37	18	6093420	6093420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:6093420G>T	ENST00000284898.6	-	15	1507	c.1307C>A	c.(1306-1308)tCa>tAa	p.S436*	L3MBTL4_ENST00000535782.1_Nonsense_Mutation_p.S249*|L3MBTL4_ENST00000400104.3_Nonsense_Mutation_p.S436*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.S436*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.S436*	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	436					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTTGATTTTGAATGTGAAGA	0.398																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													143.0	141.0	142.0					18																	6093420		2203	4299	6502	SO:0001587	stop_gained	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1307C>A	18.37:g.6093420G>T	ENSP00000284898:p.Ser436*		A8MTL8|Q8IXS3	Nonsense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.S436*	ENST00000284898.6	37	c.1307	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	G	37	6.135087	0.97315	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	.	.	.	5.39	2.57	0.30868	.	0.546700	0.16077	N	0.230696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6331	0.28251	0.2797:0.0:0.7203:0.0	.	.	.	.	X	436;436;436;249;436	.	ENSP00000284898:S436X	S	-	2	0	L3MBTL4	6083420	0.709000	0.27886	0.246000	0.24233	0.638000	0.38207	0.712000	0.25779	0.320000	0.23234	-0.123000	0.14984	TCA	L3MBTL4	-	NULL	ENSG00000154655		0.398	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0.00	89	0	G	NM_173464		6093420	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	0.422	T
LAG3	3902	genome.wustl.edu	37	12	6886966	6886966	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:6886966G>A	ENST00000203629.2	+	7	1643	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	437					cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)	p.R437H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGCCCAACGCTCTGGGAGA	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											89.0	87.0	87.0					12																	6886966		2203	4300	6503	SO:0001583	missense	0				CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1310G>A	12.37:g.6886966G>A	ENSP00000203629:p.Arg437His		A8K7T9|Q7Z643	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.R437H	ENST00000203629.2	37	c.1310	CCDS8561.1	12	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791826	0.50102	.	.	ENSG00000089692	ENST00000203629	T	0.13307	2.6	5.32	-2.42	0.06542	.	0.965647	0.08575	N	0.925492	T	0.11281	0.0275	M	0.68317	2.08	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.42582	-0.9443	10	0.27082	T	0.32	-2.117	0.414	0.00445	0.2727:0.1251:0.2654:0.3368	.	437	P18627	LAG3_HUMAN	H	437	ENSP00000203629:R437H	ENSP00000203629:R437H	R	+	2	0	LAG3	6757227	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.482000	0.06544	-0.271000	0.09272	-0.391000	0.06502	CGC	LAG3	-	NULL	ENSG00000089692		0.532	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAG3	HGNC	protein_coding	OTTHUMT00000402846.1	-	0.00	43	0	G			6886966	+1	tier1	-	no_errors	ENST00000203629	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.000	A
LAMA1	284217	genome.wustl.edu	37	18	6995375	6995375	+	Missense_Mutation	SNP	G	G	A	rs201454996		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:6995375G>A	ENST00000389658.3	-	34	4970	c.4877C>T	c.(4876-4878)aCg>aTg	p.T1626M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1626	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAGGTTGTCCGTTTCTTCTGC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		17091	0.0		0.0	False		,,,				2504	0.001																0								G	MET/THR	0,4406		0,0,2203	236.0	216.0	223.0		4877	2.3	0.0	18		223	2,8594	2.2+/-6.3	0,2,4296	yes	missense	LAMA1	NM_005559.3	81	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	1626/3076	6995375	2,13000	2203	4298	6501	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4877C>T	18.37:g.6995375G>A	ENSP00000374309:p.Thr1626Met			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.T1626M	ENST00000389658.3	37	c.4877	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.705677	0.00719	0.0	2.33E-4	ENSG00000101680	ENST00000389658	T	0.11712	2.75	5.07	2.3	0.28687	Laminin I (1);	0.658250	0.14959	N	0.288492	T	0.08802	0.0218	L	0.50333	1.59	0.09310	N	1	B	0.31655	0.334	B	0.28385	0.089	T	0.35624	-0.9781	10	0.11794	T	0.64	.	7.993	0.30252	0.2673:0.0:0.7327:0.0	.	1626	P25391	LAMA1_HUMAN	M	1626	ENSP00000374309:T1626M	ENSP00000374309:T1626M	T	-	2	0	LAMA1	6985375	0.006000	0.16342	0.002000	0.10522	0.006000	0.05464	0.409000	0.21082	0.382000	0.24878	-0.133000	0.14855	ACG	LAMA1	-	pfam_Laminin_I	ENSG00000101680		0.428	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	80	0	G	NM_005559		6995375	-1	tier1	rs201454996	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	28.12	67	27	SNP	0.007	A
LAMA1	284217	genome.wustl.edu	37	18	7024414	7024414	+	Nonsense_Mutation	SNP	C	C	T	rs376146127		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:7024414C>T	ENST00000389658.3	-	18	2547	c.2454G>A	c.(2452-2454)tgG>tgA	p.W818*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	818	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCGGGGCACACCAGTCACAGA	0.423																																																	0													58.0	52.0	54.0					18																	7024414		2203	4300	6503	SO:0001587	stop_gained	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2454G>A	18.37:g.7024414C>T	ENSP00000374309:p.Trp818*			Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.W818*	ENST00000389658.3	37	c.2454	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	38	6.639875	0.97726	.	.	ENSG00000101680	ENST00000389658	.	.	.	6.01	5.13	0.70059	.	0.246503	0.34700	N	0.003759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.7757	0.34760	0.0:0.7502:0.1508:0.099	.	.	.	.	X	818	.	ENSP00000374309:W818X	W	-	3	0	LAMA1	7014414	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	1.668000	0.37481	1.539000	0.49286	0.643000	0.83706	TGG	LAMA1	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom	ENSG00000101680		0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1		0.00	71	0	C	NM_005559		7024414	-1			no_errors	ENST00000389658	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	1.000	T
LAMA5	3911	genome.wustl.edu	37	20	60892021	60892021	+	Missense_Mutation	SNP	C	C	T	rs376340588		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:60892021C>T	ENST00000252999.3	-	56	7636	c.7570G>A	c.(7570-7572)Gcc>Acc	p.A2524T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2524	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGCTGTAGGCGTTGGAGGCC	0.677																																																	0									THR/ALA	1,4373		0,1,2186	44.0	41.0	42.0		7570	4.3	0.9	20		42	0,8560		0,0,4280	no	missense	LAMA5	NM_005560.3	58	0,1,6466	TT,TC,CC		0.0,0.0229,0.0077	possibly-damaging	2524/3696	60892021	1,12933	2187	4280	6467	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7570G>A	20.37:g.60892021C>T	ENSP00000252999:p.Ala2524Thr		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.A2524T	ENST00000252999.3	37	c.7570	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	N	21.1	4.096124	0.76870	2.29E-4	0.0	ENSG00000130702	ENST00000252999	T	0.24538	1.85	4.26	4.26	0.50523	.	0.454377	0.22390	U	0.060687	T	0.49779	0.1577	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	T	0.58463	-0.7632	10	0.72032	D	0.01	.	16.3263	0.82983	0.0:1.0:0.0:0.0	.	2524	O15230	LAMA5_HUMAN	T	2524	ENSP00000252999:A2524T	ENSP00000252999:A2524T	A	-	1	0	LAMA5	60325416	1.000000	0.71417	0.931000	0.37212	0.110000	0.19582	6.338000	0.72963	1.929000	0.55896	0.282000	0.19409	GCC	LAMA5	-	NULL	ENSG00000130702		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0.00	92	0	C	NM_005560		60892021	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	16.25	67	13	SNP	1.000	T
LAMA5	3911	genome.wustl.edu	37	20	60911396	60911396	+	Splice_Site	SNP	G	G	A	rs201613863		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:60911396G>A	ENST00000252999.3	-	18	2389	c.2323C>T	c.(2323-2325)Cgc>Tgc	p.R775C		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	775	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCACACTCACGGGTACAGCCC	0.632																																																	0													44.0	49.0	47.0					20																	60911396		2203	4299	6502	SO:0001630	splice_region_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2323+1C>T	20.37:g.60911396G>A			Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.R775C	ENST00000252999.3	37	c.2323	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482795	0.63962	.	.	ENSG00000130702	ENST00000252999	T	0.64260	-0.09	4.76	3.74	0.42951	EGF-like, laminin (2);	0.423929	0.27210	N	0.020405	T	0.65780	0.2724	M	0.80332	2.49	0.80722	D	1	D	0.69078	0.997	P	0.47299	0.543	T	0.70174	-0.4944	9	.	.	.	.	9.7948	0.40728	0.0:0.0:0.5372:0.4628	.	775	O15230	LAMA5_HUMAN	C	775	ENSP00000252999:R775C	.	R	-	1	0	LAMA5	60344791	0.819000	0.29175	1.000000	0.80357	0.487000	0.33371	1.184000	0.32053	2.187000	0.69744	0.462000	0.41574	CGC	LAMA5	-	smart_EG-like_dom	ENSG00000130702		0.632	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0.00	72	0	G	NM_005560	Missense_Mutation	60911396	-1	tier1	rs201613863	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	33.80	47	24	SNP	0.999	A
LARP4B	23185	genome.wustl.edu	37	10	875405	875405	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:875405G>T	ENST00000316157.3	-	10	1085	c.1045C>A	c.(1045-1047)Ccc>Acc	p.P349T		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	349					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TGCTGCTGGGGGCTGTACATG	0.537																																																	0													70.0	60.0	63.0					10																	875405		2203	4300	6503	SO:0001583	missense	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1045C>A	10.37:g.875405G>T	ENSP00000326128:p.Pro349Thr		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.P349T	ENST00000316157.3	37	c.1045	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750235	0.89753	.	.	ENSG00000107929	ENST00000316157	T	0.39056	1.1	5.4	5.4	0.78164	.	0.047074	0.85682	D	0.000000	T	0.61438	0.2347	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.61322	-0.7086	10	0.59425	D	0.04	-0.2343	19.5504	0.95315	0.0:0.0:1.0:0.0	.	349	Q92615	LAR4B_HUMAN	T	349	ENSP00000326128:P349T	ENSP00000326128:P349T	P	-	1	0	LARP4B	865405	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.279000	0.72620	2.688000	0.91661	0.655000	0.94253	CCC	LARP4B	-	NULL	ENSG00000107929		0.537	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	-	0.00	39	0	G	NM_015155		875405	-1	tier1	-	no_errors	ENST00000316157	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	T
LARP4B	23185	genome.wustl.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:890939delT	ENST00000316157.3	-	5	527	c.487delA	c.(487-489)acafs	p.T163fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AATTCCAATGTTTTTTTAAGT	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											127.0	120.0	122.0					10																	890939		2203	4300	6503	SO:0001589	frameshift_variant	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.487delA	10.37:g.890939delT	ENSP00000326128:p.Thr163fs		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Del	DEL	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.T163fs	ENST00000316157.3	37	c.487	CCDS31131.1	10																																																																																			LARP4B	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	ENSG00000107929		0.353	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2		0.00	36	0	T	NM_015155		890939	-1			no_errors	ENST00000316157	ensembl	human	known	74_37	frame_shift_del	16.28	36	7	DEL	1.000	0
LCE1C	353133	genome.wustl.edu	37	1	152777650	152777650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:152777650delC	ENST00000607093.1	-	1	304	c.305delG	c.(304-306)ggcfs	p.G102fs	LCE1C_ENST00000368768.1_Frame_Shift_Del_p.G102fs			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	102	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCTGGAGCCCCCCGAGGG	0.667																																																	0													39.0	48.0	45.0					1																	152777650		2178	4273	6451	SO:0001589	frameshift_variant	0				CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.305delG	1.37:g.152777650delC	ENSP00000475270:p.Gly102fs			Frame_Shift_Del	DEL	NULL	p.G102fs	ENST00000607093.1	37	c.305	CCDS1026.1	1																																																																																			LCE1C	-	NULL	ENSG00000197084		0.667	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1C	HGNC	protein_coding	OTTHUMT00000034658.2		0.00	70	0	C	NM_178351		152777650	-1	tier1		no_errors	ENST00000368768	ensembl	human	known	74_37	frame_shift_del	22.22	63	18	DEL	0.940	-
LCK	3932	genome.wustl.edu	37	1	32740999	32740999	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:32740999C>T	ENST00000336890.5	+	5	494	c.356C>T	c.(355-357)gCg>gTg	p.A119V	LCK_ENST00000333070.4_Missense_Mutation_p.A119V|LCK_ENST00000373564.3_Missense_Mutation_p.A177V	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	119	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	GTGGCCAAAGCGAACAGCCTG	0.647			T	TRB@	T-ALL																																			Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0													62.0	56.0	58.0					1																	32740999		2203	4300	6503	SO:0001583	missense	0			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.356C>T	1.37:g.32740999C>T	ENSP00000337825:p.Ala119Val		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.A119V	ENST00000336890.5	37	c.356	CCDS359.1	1	.	.	.	.	.	.	.	.	.	.	c	9.998	1.232598	0.22626	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000373562;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;D;T;D;T;D	0.92397	1.06;1.67;-3.03;1.67;-3.03;1.06;-3.03	5.29	5.29	0.74685	Src homology-3 domain (3);SH2 motif (1);	0.105088	0.41294	D	0.000901	T	0.74512	0.3726	N	0.01779	-0.725	0.37562	D	0.919092	B;B;B;B	0.10296	0.0;0.003;0.001;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.71724	-0.4506	10	0.02654	T	1	.	8.5515	0.33455	0.0:0.8341:0.0:0.1659	.	163;177;119;119	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	V	119;177;119;119;163;119;163;177	ENSP00000337825:A119V;ENSP00000431517:A177V;ENSP00000435605:A119V;ENSP00000362663:A119V;ENSP00000362658:A163V;ENSP00000328213:A119V;ENSP00000362665:A177V	ENSP00000328213:A119V	A	+	2	0	LCK	32513586	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	3.188000	0.50958	2.662000	0.90505	0.555000	0.69702	GCG	LCK	-	smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000182866		0.647	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCK	HGNC	protein_coding	OTTHUMT00000019616.4	-	0.00	83	0	C	NM_005356		32740999	+1	tier1	-	no_errors	ENST00000333070	ensembl	human	known	74_37	missense	37.31	42	25	SNP	1.000	T
LCMT1	51451	genome.wustl.edu	37	16	25143764	25143764	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:25143764G>A	ENST00000399069.3	+	3	402	c.247G>A	c.(247-249)Gca>Aca	p.A83T	LCMT1_ENST00000380966.4_Missense_Mutation_p.A83T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	83					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GCTTATAAAGGCATTTCTACG	0.463																																					Colon(200;565 2072 24396 47922 50898)												0													131.0	124.0	126.0					16																	25143764		1947	4146	6093	SO:0001583	missense	0			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.247G>A	16.37:g.25143764G>A	ENSP00000382021:p.Ala83Thr		A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCMT1	p.A83T	ENST00000399069.3	37	c.247	CCDS45445.1	16	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995294	0.54147	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.24538	1.85;1.85	5.51	5.51	0.81932	.	0.060065	0.64402	D	0.000003	T	0.33469	0.0864	M	0.65975	2.015	0.58432	D	0.999994	P;P	0.42375	0.778;0.655	B;B	0.43103	0.408;0.215	T	0.04115	-1.0976	10	0.25106	T	0.35	-20.8564	16.9326	0.86195	0.0:0.0:1.0:0.0	.	83;83	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	T	83;83;100	ENSP00000382021:A83T;ENSP00000370353:A83T	ENSP00000370349:A100T	A	+	1	0	LCMT1	25051265	1.000000	0.71417	0.709000	0.30452	0.602000	0.36980	4.786000	0.62425	2.591000	0.87537	0.655000	0.94253	GCA	LCMT1	-	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCMT1	ENSG00000205629		0.463	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	-	0.00	69	0	G	NM_016309		25143764	+1	tier1	-	no_errors	ENST00000399069	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	A
LCN10	414332	genome.wustl.edu	37	9	139636343	139636343	+	Missense_Mutation	SNP	C	C	T	rs149777062		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:139636343C>T	ENST00000474369.1	-	2	246	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	LCN6_ENST00000480584.1_5'UTR|LCN10_ENST00000527229.1_Missense_Mutation_p.A83T|LCN10_ENST00000497771.1_Missense_Mutation_p.A83T|LCN6_ENST00000471509.1_5'Flank|LCN6_ENST00000435202.1_3'UTR			Q6JVE6	LCN10_HUMAN	lipocalin 10	83					transport (GO:0006810)	extracellular region (GO:0005576)				breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CGTCTGAAGGCGAGGAGCACG	0.657																																																	0									THR/ALA	0,4404		0,0,2202	46.0	40.0	42.0		247	2.0	0.0	9	dbSNP_134	42	3,8593		0,3,4295	no	missense	LCN10	NM_001001712.2	58	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	83/201	139636343	3,12997	2202	4298	6500	SO:0001583	missense	0			AY301271	CCDS35182.2	9q34.3	2011-10-24			ENSG00000187922	ENSG00000187922		"""Lipocalins"""	20892	protein-coding gene	gene with protein product		612904				15363845	Standard	NM_001001712		Approved		uc004civ.3	Q6JVE6	OTTHUMG00000150428	ENST00000474369.1:c.247G>A	9.37:g.139636343C>T	ENSP00000420564:p.Ala83Thr		A2RUU3|B0QZ79	Missense_Mutation	SNP	superfamily_Calycin-like	p.A83T	ENST00000474369.1	37	c.247	CCDS35182.2	9	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533457	0.64972	0.0	3.49E-4	ENSG00000187922	ENST00000527229;ENST00000497771;ENST00000474369	T;T;T	0.10573	2.86;2.86;2.86	4.07	1.99	0.26369	Calycin-like (1);Calycin (1);	0.274054	0.26156	N	0.026013	T	0.06462	0.0166	.	.	.	0.09310	N	1	P;P;P	0.50272	0.874;0.933;0.874	B;B;B	0.36885	0.141;0.235;0.141	T	0.33929	-0.9849	9	0.62326	D	0.03	-2.5732	4.7488	0.13050	0.0:0.6511:0.2252:0.1237	.	83;83;83	E9PK15;Q6JVE6;Q6JVE6-2	.;LCN10_HUMAN;.	T	83	ENSP00000431726:A83T;ENSP00000418491:A83T;ENSP00000420564:A83T	ENSP00000435948:A83T	A	-	1	0	LCN10	138756164	0.001000	0.12720	0.008000	0.14137	0.039000	0.13416	0.705000	0.25675	1.020000	0.39573	0.552000	0.68991	GCC	LCN10	-	superfamily_Calycin-like	ENSG00000187922		0.657	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LCN10	HGNC	protein_coding	OTTHUMT00000318062.2		0.00	71	0	C	NM_001001712		139636343	-1			no_errors	ENST00000497771	ensembl	human	known	74_37	missense	9.84	54	6	SNP	0.003	T
LCORL	254251	genome.wustl.edu	37	4	18023330	18023330	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:18023330A>G	ENST00000382226.5	-	1	153	c.45T>C	c.(43-45)gcT>gcC	p.A15A	LCORL_ENST00000326877.4_Silent_p.A15A|LCORL_ENST00000539056.1_5'UTR|LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000382224.1_5'Flank	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	15	Ala-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						cggcggcggcagcagcggcgg	0.701																																																	0													2.0	3.0	3.0					4																	18023330		1079	2487	3566	SO:0001819	synonymous_variant	0				CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.45T>C	4.37:g.18023330A>G			Q96NK1	Silent	SNP	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.A15	ENST00000382226.5	37	c.45	CCDS54749.1	4																																																																																			LCORL	-	NULL	ENSG00000178177		0.701	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LCORL	HGNC	protein_coding		-	0.00	18	0	A	NM_153686		18023330	-1	tier1	-	no_errors	ENST00000382226	ensembl	human	known	74_37	silent	40.00	9	6	SNP	0.996	G
LCP2	3937	genome.wustl.edu	37	5	169697818	169697818	+	Missense_Mutation	SNP	G	G	T	rs375649336		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:169697818G>T	ENST00000046794.5	-	7	1043	c.428C>A	c.(427-429)gCg>gAg	p.A143E		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	143					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CTCATAATCCGCGTCATCTTC	0.537																																																	0													91.0	112.0	105.0					5																	169697818		2163	4257	6420	SO:0001583	missense	0				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.428C>A	5.37:g.169697818G>T	ENSP00000046794:p.Ala143Glu		A8KA25|Q53XV4	Missense_Mutation	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.A143E	ENST00000046794.5	37	c.428	CCDS47339.1	5	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777674	0.31502	.	.	ENSG00000043462	ENST00000046794	T	0.46451	0.87	5.19	5.19	0.71726	.	0.279961	0.33813	N	0.004528	T	0.45135	0.1327	L	0.57536	1.79	0.80722	D	1	P	0.50369	0.934	P	0.45753	0.492	T	0.37911	-0.9685	9	.	.	.	-14.5764	14.5793	0.68274	0.0:0.0:1.0:0.0	.	143	Q13094	LCP2_HUMAN	E	143	ENSP00000046794:A143E	.	A	-	2	0	LCP2	169630396	0.360000	0.24964	0.042000	0.18584	0.006000	0.05464	1.815000	0.38981	2.569000	0.86673	0.655000	0.94253	GCG	LCP2	-	NULL	ENSG00000043462		0.537	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	-	0.00	76	0	G	NM_005565		169697818	-1	tier1	-	no_errors	ENST00000046794	ensembl	human	known	74_37	missense	16.05	68	13	SNP	0.176	T
LDLRAP1	26119	genome.wustl.edu	37	1	25889632	25889632	+	Frame_Shift_Del	DEL	T	T	-	rs386629678|rs6687605	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:25889632delT	ENST00000374338.4	+	6	723	c.604delT	c.(604-606)tccfs	p.S202fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	202			S -> H (in ARH; Lebanon; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:11326085}.|S -> P (in dbSNP:rs6687605). {ECO:0000269|PubMed:11326085, ECO:0000269|PubMed:12417523, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACCCCCTCCTTGAAGAG	0.637																																																	0													35.0	38.0	37.0					1																	25889632		2203	4298	6501	SO:0001589	frameshift_variant	0			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.604delT	1.37:g.25889632delT	ENSP00000363458:p.Ser202fs		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Frame_Shift_Del	DEL	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.S202fs	ENST00000374338.4	37	c.604	CCDS30639.1	1																																																																																			LDLRAP1	-	NULL	ENSG00000157978		0.637	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3		0.00	148	0	T	NM_015627		25889632	+1			no_errors	ENST00000374338	ensembl	human	known	74_37	frame_shift_del	5.56	136	8	DEL	0.000	0
LDLRAP1	26119	genome.wustl.edu	37	1	25893406	25893406	+	Missense_Mutation	SNP	G	G	A	rs144622500		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:25893406G>A	ENST00000374338.4	+	9	969	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	284					amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CATGCATTACGCCCAGTGCCT	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15571	0.0		0.0	False		,,,				2504	0.0																0								G	THR/ALA	0,4406		0,0,2203	49.0	39.0	42.0		850	4.6	1.0	1	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LDLRAP1	NM_015627.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	284/309	25893406	1,13005	2203	4300	6503	SO:0001583	missense	0			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.850G>A	1.37:g.25893406G>A	ENSP00000363458:p.Ala284Thr		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.A284T	ENST00000374338.4	37	c.850	CCDS30639.1	1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973577	0.53720	0.0	1.16E-4	ENSG00000157978	ENST00000374338	T	0.55588	0.51	5.54	4.61	0.57282	.	0.241239	0.41097	D	0.000942	T	0.42494	0.1205	L	0.43152	1.355	0.30034	N	0.813179	B;B	0.20052	0.041;0.041	B;B	0.13407	0.009;0.009	T	0.41288	-0.9517	10	0.38643	T	0.18	-24.2729	9.4353	0.38635	0.0795:0.147:0.7735:0.0	.	284;284	B3KR97;Q5SW96	.;ARH_HUMAN	T	284	ENSP00000363458:A284T	ENSP00000363458:A284T	A	+	1	0	LDLRAP1	25765993	1.000000	0.71417	0.977000	0.42913	0.808000	0.45660	6.496000	0.73670	1.297000	0.44761	0.561000	0.74099	GCC	LDLRAP1	-	NULL	ENSG00000157978		0.637	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3	-	0.00	73	0	G	NM_015627		25893406	+1	tier1	rs144622500	no_errors	ENST00000374338	ensembl	human	known	74_37	missense	21.43	44	12	SNP	0.986	A
LGR5	8549	genome.wustl.edu	37	12	71977667	71977667	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:71977667G>A	ENST00000266674.5	+	18	2188	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q	LGR5_ENST00000536515.1_Missense_Mutation_p.R554Q|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.R602Q			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	626					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AGCTTTGCACGACATGGTGCC	0.507																																																	0													170.0	124.0	139.0					12																	71977667		2203	4300	6503	SO:0001583	missense	0			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1877G>A	12.37:g.71977667G>A	ENSP00000266674:p.Arg626Gln		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R626Q	ENST00000266674.5	37	c.1877	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979669	0.18812	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.83335	-1.71;-1.71;-1.71	5.84	-2.11	0.07187	GPCR, rhodopsin-like superfamily (1);	0.338675	0.25117	N	0.033020	T	0.51584	0.1683	N	0.00583	-1.355	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.45512	-0.9256	10	0.16420	T	0.52	.	15.6125	0.76737	0.902:0.0:0.098:0.0	.	602;626	O75473-2;O75473	.;LGR5_HUMAN	Q	626;626;554;602	ENSP00000266674:R626Q;ENSP00000443033:R554Q;ENSP00000441035:R602Q	ENSP00000266674:R626Q	R	+	2	0	LGR5	70263934	0.000000	0.05858	0.007000	0.13788	0.829000	0.46940	0.901000	0.28445	-0.356000	0.08187	0.655000	0.94253	CGA	LGR5	-	pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,pfscan_GPCR_Rhodpsn_7TM	ENSG00000139292		0.507	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	-	0.00	66	0	G	NM_003667		71977667	+1	tier1	-	no_errors	ENST00000266674	ensembl	human	known	74_37	missense	15.19	67	12	SNP	0.375	A
LHX6	26468	genome.wustl.edu	37	9	124967006	124967006	+	3'UTR	SNP	C	C	T	rs576331654		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:124967006C>T	ENST00000373755.2	-	0	1233				LHX6_ENST00000541397.2_Missense_Mutation_p.A359T|LHX6_ENST00000559895.1_3'UTR|LHX6_ENST00000394319.4_3'UTR|LHX6_ENST00000482062.1_3'UTR|LHX6_ENST00000340587.3_Missense_Mutation_p.A370T|LHX6_ENST00000464484.2_Missense_Mutation_p.A28T|LHX6_ENST00000373754.2_Missense_Mutation_p.A341T	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6						cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						AGCTGTGGGGCGCCCACGGGC	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14369	0.0		0.0	False		,,,				2504	0.0																0													21.0	26.0	24.0					9																	124967006		2203	4297	6500	SO:0001624	3_prime_UTR_variant	0			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.*33G>A	9.37:g.124967006C>T			A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.A370T	ENST00000373755.2	37	c.1108	CCDS56583.1	9	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569037	0.28003	.	.	ENSG00000106852	ENST00000373754;ENST00000340587;ENST00000541397	D;D;D	0.87179	-2.22;-2.07;-2.13	5.52	1.63	0.23807	.	.	.	.	.	T	0.70911	0.3278	.	.	.	0.19300	N	0.999973	B	0.06786	0.001	B	0.06405	0.002	T	0.53012	-0.8498	8	0.09590	T	0.72	.	5.4639	0.16632	0.0:0.2804:0.1479:0.5716	.	370	Q9UPM6-4	.	T	341;370;359	ENSP00000362859:A341T;ENSP00000340137:A370T;ENSP00000441464:A359T	ENSP00000340137:A370T	A	-	1	0	LHX6	124006827	0.967000	0.33354	0.998000	0.56505	0.968000	0.65278	0.095000	0.15127	0.019000	0.15079	-0.345000	0.07892	GCC	LHX6	-	NULL	ENSG00000106852		0.672	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	LHX6	HGNC	protein_coding	OTTHUMT00000053924.2	-	0.00	91	0	C	NM_014368		124967006	-1	tier1	-	no_errors	ENST00000340587	ensembl	human	known	74_37	missense	23.88	50	16	SNP	0.996	T
RPL9	6133	genome.wustl.edu	37	4	39462464	39462464	+	5'Flank	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:39462464delA	ENST00000449470.2	-	0	0				LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR|RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000261434.3_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K36fs*31(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CTTGCCAGATAAAAAAAAGGA	0.393																																																	1	Deletion - Frameshift(1)	large_intestine(1)											107.0	120.0	115.0					4																	39462464		2203	4300	6503	SO:0001631	upstream_gene_variant	0			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462464delA	Exception_encountered			Frame_Shift_Del	DEL	pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth	p.K36fs	ENST00000449470.2	37	c.100	CCDS3452.1	4																																																																																			LIAS	-	pirsf_Lipoyl_synth	ENSG00000121897		0.393	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIAS	HGNC	protein_coding	OTTHUMT00000361018.1		0.00	40	0	A			39462464	+1	tier1		no_errors	ENST00000261434	ensembl	human	known	74_37	frame_shift_del	23.81	32	10	DEL	0.641	-
LIG3	3980	genome.wustl.edu	37	17	33326423	33326423	+	Silent	SNP	G	G	A	rs368207452		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:33326423G>A	ENST00000378526.4	+	15	2344	c.2211G>A	c.(2209-2211)acG>acA	p.T737T	LIG3_ENST00000262327.5_Silent_p.T737T	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	737					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ATGATGCCACGCTTGCCCGCC	0.582								Other BER factors					G|||	1	0.000199681	0.0008	0.0	5008	,	,		20676	0.0		0.0	False		,,,				2504	0.0																0								G	,	0,4406		0,0,2203	70.0	51.0	58.0		2211,2211	-12.3	0.1	17		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LIG3	NM_002311.4,NM_013975.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	737/950,737/1010	33326423	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2211G>A	17.37:g.33326423G>A			Q16714|Q6NVK3	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.T737	ENST00000378526.4	37	c.2211	CCDS11284.2	17																																																																																			LIG3	-	pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,tigrfam_DNA_ligase_ATP-dep	ENSG00000005156		0.582	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3		0.00	31	0	G	NM_013975		33326423	+1			no_errors	ENST00000378526	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.576	A
LILRB2	10288	genome.wustl.edu	37	19	54778658	54778658	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:54778658T>A	ENST00000391749.4	-	14	1947	c.1676A>T	c.(1675-1677)gAt>gTt	p.D559V	LILRB2_ENST00000434421.1_Missense_Mutation_p.D443V|LILRB2_ENST00000314446.5_Missense_Mutation_p.D558V|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.D558V	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	559					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGTCACATCCTGGGGGGC	0.637																																																	0													79.0	77.0	78.0					19																	54778658		2203	4300	6503	SO:0001583	missense	0			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1676A>T	19.37:g.54778658T>A	ENSP00000375629:p.Asp559Val		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D559V	ENST00000391749.4	37	c.1676	CCDS12886.1	19	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475174	0.43942	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00524	6.88;6.88;6.91;6.82	1.31	1.31	0.21738	.	.	.	.	.	T	0.01124	0.0037	M	0.78049	2.395	0.35670	D	0.813207	D;D	0.69078	0.997;0.994	P;P	0.61800	0.894;0.856	T	0.61237	-0.7103	9	0.87932	D	0	.	4.8943	0.13742	0.0:0.0:0.0:1.0	.	575;559	E7EVY1;Q8N423	.;LIRB2_HUMAN	V	558;558;559;443	ENSP00000375628:D558V;ENSP00000319960:D558V;ENSP00000375629:D559V;ENSP00000410117:D443V	ENSP00000319960:D558V	D	-	2	0	LILRB2	59470470	0.008000	0.16893	0.687000	0.30102	0.189000	0.23516	0.445000	0.21677	0.885000	0.36088	0.246000	0.17985	GAT	LILRB2	-	NULL	ENSG00000131042		0.637	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	HGNC	protein_coding	OTTHUMT00000139510.1	-	0.00	155	0	T			54778658	-1	tier1	-	no_errors	ENST00000391749	ensembl	human	known	74_37	missense	8.18	101	9	SNP	0.762	A
LIM2	3982	genome.wustl.edu	37	19	51883833	51883833	+	Missense_Mutation	SNP	C	C	T	rs371415135		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:51883833C>T	ENST00000596399.1	-	4	433	c.386G>A	c.(385-387)cGc>cAc	p.R129H	LIM2_ENST00000221973.3_Missense_Mutation_p.R171H	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	129					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CCCAAAGCGGCGGCCCAGGAA	0.627																																																	0													104.0	105.0	105.0					19																	51883833		2203	4300	6503	SO:0001583	missense	0				CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.386G>A	19.37:g.51883833C>T	ENSP00000472090:p.Arg129His		Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20	p.R171H	ENST00000596399.1	37	c.512	CCDS59415.1	19	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148262	0.78001	.	.	ENSG00000105370	ENST00000221973	D	0.89196	-2.48	4.73	3.7	0.42460	.	0.069759	0.56097	D	0.000021	D	0.89136	0.6629	L	0.40543	1.245	0.39623	D	0.970065	D;D	0.89917	0.996;1.0	P;D	0.65773	0.888;0.938	D	0.88558	0.3121	10	0.59425	D	0.04	-30.4197	6.3299	0.21264	0.0:0.7947:0.0:0.2053	.	129;171	P55344;P55344-2	LMIP_HUMAN;.	H	171	ENSP00000221973:R171H	ENSP00000221973:R171H	R	-	2	0	LIM2	56575645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.997000	0.57016	2.178000	0.69098	0.655000	0.94253	CGC	LIM2	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000105370		0.627	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIM2	HGNC	protein_coding	OTTHUMT00000464247.1		0.00	42	0	C	NM_030657		51883833	-1			no_errors	ENST00000221973	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
LIM2	3982	genome.wustl.edu	37	19	51885678	51885678	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:51885678delA	ENST00000596399.1	-	3	366	c.319delT	c.(319-321)tccfs	p.S108fs	LIM2_ENST00000221973.3_Frame_Shift_Del_p.S150fs	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	108					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		TCACTTGAGGAAAAAAACATG	0.562																																																	0													126.0	109.0	115.0					19																	51885678		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.319delT	19.37:g.51885678delA	ENSP00000472090:p.Ser108fs		Q6B083|Q9BXD0|Q9HAR5	Frame_Shift_Del	DEL	pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20	p.S149fs	ENST00000596399.1	37	c.445	CCDS59415.1	19																																																																																			LIM2	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000105370		0.562	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIM2	HGNC	protein_coding	OTTHUMT00000464247.1		0.00	31	0	A	NM_030657		51885678	-1	tier1		no_errors	ENST00000221973	ensembl	human	known	74_37	frame_shift_del	25.58	32	11	DEL	0.901	-
LILRB4	11006	genome.wustl.edu	37	19	55179121	55179121	+	Silent	SNP	G	G	A	rs61738941	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:55179121G>A	ENST00000391736.1	+	13	1392	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	LILRB4_ENST00000270452.2_Silent_p.T359T|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000391733.3_Silent_p.T360T|LILRB4_ENST00000430952.2_Silent_p.T358T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	359					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGGCAGTGACGTATGCCAAGG	0.567																																																	0													110.0	115.0	113.0					19																	55179121		2199	4300	6499	SO:0001819	synonymous_variant	0			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1077G>A	19.37:g.55179121G>A			A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	pfam_Immunoglobulin,pfscan_Ig-like_dom	p.T359	ENST00000391736.1	37	c.1077	CCDS12902.1	19																																																																																			LILRB4	-	NULL	ENSG00000186818		0.567	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	HGNC	protein_coding	OTTHUMT00000141127.3	-	0.00	103	0	G			55179121	+1	tier1	rs61738941	no_errors	ENST00000270452	ensembl	human	known	74_37	silent	35.00	78	42	SNP	0.000	A
LIMA1	51474	genome.wustl.edu	37	12	50594561	50594561	+	Splice_Site	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:50594561T>C	ENST00000341247.4	-	7	1120	c.971A>G	c.(970-972)aAg>aGg	p.K324R	LIMA1_ENST00000547825.1_Splice_Site_p.K22R|LIMA1_ENST00000552491.1_Splice_Site_p.K22R|LIMA1_ENST00000552783.1_Splice_Site_p.K164R|LIMA1_ENST00000394943.3_Splice_Site_p.K324R|LIMA1_ENST00000552823.1_Splice_Site_p.K164R|LIMA1_ENST00000552909.1_Splice_Site_p.K164R|LIMA1_ENST00000552008.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	324					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCAACCTACCTTTTCCCCTTC	0.443																																																	0													308.0	303.0	304.0					12																	50594561		2203	4300	6503	SO:0001630	splice_region_variant	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.972+1A>G	12.37:g.50594561T>C			B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K324R	ENST00000341247.4	37	c.971	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	T	13.78	2.340411	0.41498	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;D;D;T;D;D	0.85088	-1.2;-1.2;-1.54;-1.94;-1.21;-1.52;-1.53	5.64	4.5	0.54988	.	0.142113	0.48286	D	0.000183	D	0.90293	0.6964	M	0.71581	2.175	0.41306	D	0.987071	D;D;B	0.76494	0.968;0.999;0.012	P;D;B	0.80764	0.721;0.994;0.03	D	0.90212	0.4265	10	0.66056	D	0.02	.	9.422	0.38557	0.0:0.0807:0.0:0.9193	.	333;324;164	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	R	22;22;164;324;324;164;164;243	ENSP00000448463:K22R;ENSP00000448706:K22R;ENSP00000450266:K164R;ENSP00000378400:K324R;ENSP00000340184:K324R;ENSP00000448779:K164R;ENSP00000450087:K164R	ENSP00000340184:K324R	K	-	2	0	LIMA1	48880828	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	4.348000	0.59379	1.153000	0.42468	-0.263000	0.10527	AAG	LIMA1	-	NULL	ENSG00000050405		0.443	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	-	0.00	83	0	T	NM_016357	Missense_Mutation	50594561	-1	tier1	-	no_errors	ENST00000394943	ensembl	human	known	74_37	missense	16.18	56	11	SNP	1.000	C
LIMD1	8994	genome.wustl.edu	37	3	45637755	45637755	+	Missense_Mutation	SNP	G	G	A	rs147641879	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:45637755G>A	ENST00000273317.4	+	1	1405	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	LIMD1_ENST00000440097.1_Missense_Mutation_p.A462T|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	462					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AGAGATGGATGCTCACCCGAA	0.587																																																	0													30.0	22.0	25.0					3																	45637755		2203	4300	6503	SO:0001583	missense	0			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1384G>A	3.37:g.45637755G>A	ENSP00000273317:p.Ala462Thr		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A462T	ENST00000273317.4	37	c.1384	CCDS2729.1	3	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786375	0.49997	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58940	0.3;0.5	4.88	2.7	0.31948	.	0.183896	0.36066	N	0.002814	T	0.38108	0.1028	N	0.19112	0.55	0.41086	D	0.985563	B	0.22683	0.073	B	0.20384	0.029	T	0.14008	-1.0488	10	0.13470	T	0.59	.	12.337	0.55073	0.1617:0.0:0.8383:0.0	.	462	Q9UGP4	LIMD1_HUMAN	T	462	ENSP00000394537:A462T;ENSP00000273317:A462T	ENSP00000273317:A462T	A	+	1	0	LIMD1	45612759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.060000	0.71141	1.043000	0.40175	0.655000	0.94253	GCT	LIMD1	-	NULL	ENSG00000144791		0.587	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	-	0.00	39	0	G	NM_014240		45637755	+1	tier1	-	no_errors	ENST00000273317	ensembl	human	known	74_37	missense	36.17	30	17	SNP	1.000	A
LIMK2	3985	genome.wustl.edu	37	22	31658176	31658176	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:31658176G>A	ENST00000331728.4	+	6	722	c.608G>A	c.(607-609)cGc>cAc	p.R203H	LIMK2_ENST00000333611.4_Missense_Mutation_p.R182H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.R182H|LIMK2_ENST00000406516.1_Missense_Mutation_p.R125H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	203	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						CCTGGGGACCGCATCCTGGAG	0.547																																																	0													150.0	142.0	145.0					22																	31658176		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.608G>A	22.37:g.31658176G>A	ENSP00000332687:p.Arg203His		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R203H	ENST00000331728.4	37	c.608	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449939	0.84101	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	L	0.49778	1.585	0.80722	D	1	P;D;P;D	0.71674	0.844;0.96;0.871;0.998	B;P;P;P	0.61328	0.407;0.716;0.542;0.887	T	0.46541	-0.9184	10	0.72032	D	0.01	-19.1698	18.4111	0.90550	0.0:0.0:1.0:0.0	.	235;182;203;125	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	H	125;203;235;182;182	ENSP00000384602:R125H;ENSP00000332687:R203H;ENSP00000330470:R182H;ENSP00000339916:R182H	ENSP00000332687:R203H	R	+	2	0	LIMK2	29988176	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.632000	0.83247	2.588000	0.87417	0.655000	0.94253	CGC	LIMK2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000182541		0.547	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	-	0.00	61	0	G	NM_016733		31658176	+1	tier1	-	no_errors	ENST00000331728	ensembl	human	known	74_37	missense	31.91	32	15	SNP	1.000	A
LIMS2	55679	genome.wustl.edu	37	2	128396003	128396003	+	3'UTR	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:128396003G>A	ENST00000355119.4	-	0	2044				LIMS2_ENST00000409808.2_3'UTR|LIMS2_ENST00000410011.1_3'UTR|LIMS2_ENST00000409286.1_3'UTR|LIMS2_ENST00000324938.5_3'UTR|LIMS2_ENST00000409455.1_3'UTR|LIMS2_ENST00000409754.1_3'UTR|LIMS2_ENST00000494613.1_5'UTR	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2						cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TGCTGTGGTTGTGTGAACAAG	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.*853C>T	2.37:g.128396003G>A			A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	RNA	SNP	-	NULL	ENST00000355119.4	37	NULL	CCDS54395.1	2																																																																																			LIMS2	-	-	ENSG00000072163		0.612	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LIMS2	HGNC	protein_coding	OTTHUMT00000331133.2	-	0.00	103	0	G	NM_017980		128396003	-1	tier1	-	no_errors	ENST00000494613	ensembl	human	known	74_37	rna	10.39	69	8	SNP	0.001	A
LIN28B	389421	genome.wustl.edu	37	6	105526529	105526529	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:105526529G>T	ENST00000345080.4	+	4	827	c.624G>T	c.(622-624)caG>caT	p.Q208H		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	208					miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CGTTTCCTCAGGAGGCTAGGG	0.547																																																	0													76.0	69.0	72.0					6																	105526529		2203	4300	6503	SO:0001583	missense	0			AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.624G>T	6.37:g.105526529G>T	ENSP00000344401:p.Gln208His		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd	p.Q208H	ENST00000345080.4	37	c.624	CCDS34504.1	6	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711675	0.68730	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.81	4.94	0.65067	.	0.672481	0.16681	N	0.203925	T	0.45316	0.1336	L	0.43152	1.355	0.49687	D	0.99981	P	0.49447	0.924	P	0.48030	0.564	T	0.41052	-0.9530	9	0.38643	T	0.18	-2.1999	14.6272	0.68629	0.0695:0.0:0.9305:0.0	.	208	Q6ZN17	LN28B_HUMAN	H	208	.	ENSP00000344401:Q208H	Q	+	3	2	LIN28B	105633222	1.000000	0.71417	0.992000	0.48379	0.863000	0.49368	6.785000	0.75089	1.461000	0.47929	0.655000	0.94253	CAG	LIN28B	-	NULL	ENSG00000187772		0.547	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN28B	HGNC	protein_coding	OTTHUMT00000041646.2	-	0.00	61	0	G	NM_001004317		105526529	+1	tier1	-	no_errors	ENST00000345080	ensembl	human	known	74_37	missense	26.67	33	12	SNP	1.000	T
LINC00452	643365	genome.wustl.edu	37	13	114622476	114622477	+	lincRNA	INS	-	-	C	rs7998051	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:114622476_114622477insC	ENST00000609661.1	+	0	680_681									long intergenic non-protein coding RNA 452																		GAAGCTCGACGCCCCCGCAGGC	0.688																																																	0																																												0					13q34	2014-04-09			ENSG00000229373	ENSG00000229373		"""Long non-coding RNAs"""	42800	other	unknown			"""long intergenic non-protein coding RNA 453"""	LINC00453			Standard	NM_001278674		Approved				OTTHUMG00000017394		13.37:g.114622481_114622481dupC				RNA	INS	-	NULL	ENST00000609661.1	37	NULL		13																																																																																			LINC00452	-	-	ENSG00000229373		0.688	LINC00452-003	KNOWN	basic	lincRNA	LINC00452	HGNC	lincRNA	OTTHUMT00000473163.1		0.00	200	0	-			114622477	+1	tier1		no_errors	ENST00000426859	ensembl	human	known	74_37	rna	25.16	119	40	INS	0.000:0.001	C
LINC00588	26138	genome.wustl.edu	37	8	58192537	58192537	+	lincRNA	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:58192537G>A	ENST00000521663.1	+	0	436					NR_026772.1		Q9Y4M8	CH071_HUMAN	long intergenic non-protein coding RNA 588																		AACGCTGCCCGAGCCACCAGC	0.687																																																	0																																												0					8q12.1	2012-10-12	2012-04-17	2012-04-17	ENSG00000215117	ENSG00000215117		"""Long non-coding RNAs"""	24494	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 71"""	C8orf71		11230166	Standard	NR_026772		Approved	DKFZP434F122	uc003xtg.3	Q9Y4M8	OTTHUMG00000164424		8.37:g.58192537G>A				RNA	SNP	-	NULL	ENST00000521663.1	37	NULL		8																																																																																			LINC00588	-	-	ENSG00000215117		0.687	LINC00588-001	KNOWN	basic	lincRNA	LINC00588	HGNC	lincRNA	OTTHUMT00000378704.1		0.00	34	0	G	NR_026772		58192537	+1			no_errors	ENST00000521663	ensembl	human	known	74_37	rna	8.11	34	3	SNP	0.029	A
CCER1	196477	genome.wustl.edu	37	12	91340253	91340254	+	Intron	DEL	TT	TT	-	rs5799966|rs397849978		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:91340253_91340254delTT	ENST00000548187.1	-	3	193				LINC00615_ENST00000546725.1_lincRNA			Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1																		AAAGCCTTCCtttttttttttt	0.426																																																	0																																										SO:0001627	intron_variant	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000548187.1:c.283-5399AA>-	12.37:g.91340263_91340264delTT			Q8TC47	RNA	DEL	-	NULL	ENST00000548187.1	37	NULL		12																																																																																			LINC00615	-	-	ENSG00000196243		0.426	CCER1-001	KNOWN	basic	processed_transcript	LINC00615	HGNC	protein_coding	OTTHUMT00000407141.1		0.00	41	0	TT	NM_152638		91340254	+1	tier1		no_errors	ENST00000546725	ensembl	human	known	74_37	rna	21.88	25	7	DEL	0.148:0.180	-
LINC00668	400643	genome.wustl.edu	37	18	6928400	6928400	+	lincRNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:6928400C>T	ENST00000580197.1	-	0	136									long intergenic non-protein coding RNA 668																		cttgcataggctaatactggt	0.453																																																	0																																												0					18p11.31	2012-10-12			ENSG00000265933	ENSG00000265933		"""Long non-coding RNAs"""	44328	non-coding RNA	RNA, long non-coding							Standard	NR_034100		Approved		uc002kni.1		OTTHUMG00000178875		18.37:g.6928400C>T				RNA	SNP	-	NULL	ENST00000580197.1	37	NULL		18																																																																																			LINC00668	-	-	ENSG00000265933		0.453	LINC00668-003	KNOWN	basic	lincRNA	LINC00668	HGNC	lincRNA	OTTHUMT00000443724.1	-	0.00	49	0	C	NR_034100		6928400	-1	tier1	-	no_errors	ENST00000579012	ensembl	human	known	74_37	rna	14.00	43	7	SNP	0.003	T
LINC00670	284034	genome.wustl.edu	37	17	12493915	12493915	+	lincRNA	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:12493915T>C	ENST00000313495.2	+	0	616					NR_034144.1|NR_034145.1				long intergenic non-protein coding RNA 670																		tcccacgtcatatctgctgat	0.468																																																	0																																												0			BC122870, DB255288		17p12	2012-10-12			ENSG00000179136	ENSG00000179136		"""Long non-coding RNAs"""	44338	non-coding RNA	RNA, long non-coding							Standard	NR_034144		Approved	FLJ34690	uc002gnl.2		OTTHUMG00000058766		17.37:g.12493915T>C				RNA	SNP	-	NULL	ENST00000313495.2	37	NULL		17																																																																																			LINC00670	-	-	ENSG00000179136		0.468	LINC00670-001	KNOWN	basic	lincRNA	LINC00670	HGNC	lincRNA	OTTHUMT00000129946.2	-	0.00	49	0	T	NR_034144		12493915	+1	tier1	-	no_errors	ENST00000313495	ensembl	human	known	74_37	rna	23.68	29	9	SNP	0.000	C
LINC00933	100506874	genome.wustl.edu	37	15	85121557	85121558	+	RNA	DEL	AA	AA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:85121557_85121558delAA	ENST00000557887.1	+	0	757_758					NR_038273.1|NR_038274.1				long intergenic non-protein coding RNA 933																		TTCTTGCCTTAAAAAAAAAAAA	0.277																																																	0																																												0					15q25.2	2013-05-29			ENSG00000259728	ENSG00000259728		"""Long non-coding RNAs"""	48625	non-coding RNA	RNA, long non-coding							Standard	NR_038273		Approved				OTTHUMG00000172445		15.37:g.85121567_85121568delAA				RNA	DEL	-	NULL	ENST00000557887.1	37	NULL		15																																																																																			LINC00933	-	-	ENSG00000259728		0.277	LINC00933-001	KNOWN	basic	processed_transcript	LINC00933	HGNC	pseudogene	OTTHUMT00000418591.1		0.00	10	0	AA			85121558	+1	tier1		no_errors	ENST00000557887	ensembl	human	known	74_37	rna	42.86	4	3	DEL	0.004:0.003	-
LINC00935	255411	genome.wustl.edu	37	12	49129870	49129870	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:49129870G>T	ENST00000548380.1	+	1	125									long intergenic non-protein coding RNA 935																		cctatccctagaaactttttg	0.393																																																	0																																										SO:0001627	intron_variant	0			AK131005, BC054859		12q13.12	2013-05-30			ENSG00000257987	ENSG00000257987		"""Long non-coding RNAs"""	48628	non-coding RNA	RNA, long non-coding							Standard	NR_029448		Approved				OTTHUMG00000170394	ENST00000548380.1:c.79+8528G>T	12.37:g.49129870G>T				Splice_Site	SNP	-	e2-1	ENST00000548380.1	37	c.80-1		12																																																																																			LINC00935	-	-	ENSG00000257987		0.393	LINC00935-001	PUTATIVE	basic|appris_principal	protein_coding	LINC00935	HGNC	protein_coding	OTTHUMT00000408857.1	-	0.00	42	0	G			49129870	+1	tier1	-	no_errors	ENST00000548054	ensembl	human	known	74_37	splice_site	27.27	16	6	SNP	0.105	T
LINC00943	100507206	genome.wustl.edu	37	12	127229758	127229758	+	lincRNA	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:127229758C>A	ENST00000535544.1	+	0	1775				LINC00944_ENST00000540684.1_lincRNA					long intergenic non-protein coding RNA 943																		CCTAAGGGCCCATTTTCATCT	0.428																																																	0																																												0					12q24.32	2013-05-30			ENSG00000189238	ENSG00000189238		"""Long non-coding RNAs"""	48639	non-coding RNA	RNA, long non-coding							Standard	NR_038256		Approved				OTTHUMG00000168479		12.37:g.127229758C>A				RNA	SNP	-	NULL	ENST00000535544.1	37	NULL		12																																																																																			LINC00943	-	-	ENSG00000189238		0.428	LINC00943-002	KNOWN	basic	lincRNA	LINC00943	HGNC	lincRNA	OTTHUMT00000399867.1	-	0.00	33	0	C			127229758	+1	tier1	-	no_errors	ENST00000345111	ensembl	human	known	74_37	rna	32.43	25	12	SNP	0.003	A
LINC00955	285492	genome.wustl.edu	37	4	3590787	3590787	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:3590787A>C	ENST00000514422.1	+	3	558	c.272A>C	c.(271-273)aAc>aCc	p.N91T						long intergenic non-protein coding RNA 955																		AAAATAGAAAACACATATAGA	0.453																																																	0																																										SO:0001583	missense	0			AK092743		4p16.3	2014-04-09			ENSG00000216560	ENSG00000216560			26644	other	unknown							Standard	NR_040045		Approved	FLJ35424			OTTHUMG00000159817	ENST00000514422.1:c.272A>C	4.37:g.3590787A>C	ENSP00000427553:p.Asn91Thr			Missense_Mutation	SNP	NULL	p.N91T	ENST00000514422.1	37	c.272		4	.	.	.	.	.	.	.	.	.	.	a	5.883	0.346981	0.11126	.	.	ENSG00000216560	ENST00000514422;ENST00000404649	T	0.59083	0.29	0.113	0.113	0.14631	.	.	.	.	.	T	0.52853	0.1760	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.51028	-0.8757	5	0.87932	D	0	.	.	.	.	.	.	.	.	T	91	ENSP00000427553:N91T	ENSP00000385364:N91T	N	+	2	0	RP3-368B9.1	3560585	0.540000	0.26410	0.205000	0.23548	0.213000	0.24496	0.320000	0.19540	0.159000	0.19401	0.158000	0.16466	AAC	LINC00955	-	NULL	ENSG00000216560		0.453	LINC00955-001	NOVEL	basic|appris_principal	protein_coding	LINC00955	HGNC	protein_coding	OTTHUMT00000357538.6	-	0.00	64	0	A			3590787	+1	tier1	-	no_errors	ENST00000514422	ensembl	human	novel	74_37	missense	6.90	53	4	SNP	0.267	C
LINGO1	84894	genome.wustl.edu	37	15	77906417	77906417	+	Missense_Mutation	SNP	G	G	A	rs371235435		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:77906417G>A	ENST00000355300.6	-	2	2006	c.1832C>T	c.(1831-1833)gCg>gTg	p.A611V	LINGO1_ENST00000561030.1_Missense_Mutation_p.A605V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	611					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CTTGCGGGGCGCGTCGGCGGA	0.667																																																	0								G	VAL/ALA	1,3935		0,1,1967	33.0	34.0	34.0		1832	5.4	0.9	15		34	0,8250		0,0,4125	no	missense	LINGO1	NM_032808.5	64	0,1,6092	AA,AG,GG		0.0,0.0254,0.0082	possibly-damaging	611/621	77906417	1,12185	1968	4125	6093	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1832C>T	15.37:g.77906417G>A	ENSP00000347451:p.Ala611Val		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A611V	ENST00000355300.6	37	c.1832	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266023	0.59540	2.54E-4	0.0	ENSG00000169783	ENST00000355300	T	0.53857	0.6	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.47716	1.5	0.80722	D	1	P	0.50710	0.938	B	0.40444	0.329	T	0.58601	-0.7608	10	0.87932	D	0	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	611	Q96FE5	LIGO1_HUMAN	V	611	ENSP00000347451:A611V	ENSP00000347451:A611V	A	-	2	0	LINGO1	75693472	1.000000	0.71417	0.899000	0.35326	0.756000	0.42949	9.869000	0.99810	2.509000	0.84616	0.561000	0.74099	GCG	LINGO1	-	NULL	ENSG00000169783		0.667	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	-	0.00	25	0	G	NM_032808		77906417	-1	tier1	-	no_errors	ENST00000355300	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	A
LIPE	3991	genome.wustl.edu	37	19	42911556	42911556	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:42911556C>T	ENST00000244289.4	-	6	2183	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	636					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGCTGGGGGCGCGGCCACAG	0.657																																																	0													22.0	25.0	24.0					19																	42911556		2202	4298	6500	SO:0001583	missense	0			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1907G>A	19.37:g.42911556C>T	ENSP00000244289:p.Arg636His		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.R636H	ENST00000244289.4	37	c.1907	CCDS12607.1	19	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751714	0.69533	.	.	ENSG00000079435	ENST00000244289	T	0.09630	2.96	3.22	3.22	0.36961	.	0.428777	0.22475	N	0.059575	T	0.18964	0.0455	L	0.32530	0.975	0.34600	D	0.716435	D	0.89917	1.0	D	0.78314	0.991	T	0.11012	-1.0605	10	0.72032	D	0.01	-5.3759	8.7195	0.34432	0.0:0.8846:0.0:0.1154	.	636	Q05469	LIPS_HUMAN	H	636	ENSP00000244289:R636H	ENSP00000244289:R636H	R	-	2	0	LIPE	47603396	0.015000	0.18098	0.901000	0.35422	0.936000	0.57629	1.692000	0.37731	2.126000	0.65437	0.561000	0.74099	CGC	LIPE	-	pfam_Steryl_acetyl_hydrolase	ENSG00000079435		0.657	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1		0.00	53	0	C	NM_005357		42911556	-1			no_errors	ENST00000244289	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.938	T
LLGL1	3996	genome.wustl.edu	37	17	18138543	18138543	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:18138543G>A	ENST00000316843.4	+	10	1297	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	401					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CTCGGCCCACGTGGCCAGTGT	0.677																																																	0													21.0	23.0	22.0					17																	18138543		2203	4295	6498	SO:0001583	missense	0				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1201G>A	17.37:g.18138543G>A	ENSP00000321537:p.Val401Met		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.V401M	ENST00000316843.4	37	c.1201	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140070	0.56936	.	.	ENSG00000131899	ENST00000316843	T	0.06608	3.28	6.02	3.88	0.44766	WD40 repeat-like-containing domain (1);	0.114079	0.64402	D	0.000013	T	0.12050	0.0293	M	0.72118	2.19	0.35575	D	0.80582	D	0.61697	0.99	P	0.51055	0.657	T	0.09997	-1.0649	10	0.62326	D	0.03	-29.3094	4.8332	0.13451	0.3782:0.0:0.6218:0.0	.	401	Q15334	L2GL1_HUMAN	M	401	ENSP00000321537:V401M	ENSP00000321537:V401M	V	+	1	0	LLGL1	18079268	0.995000	0.38212	0.065000	0.19835	0.458000	0.32498	2.798000	0.47884	1.578000	0.49821	0.650000	0.86243	GTG	LLGL1	-	superfamily_WD40_repeat_dom	ENSG00000131899		0.677	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	-	0.00	38	0	G			18138543	+1	tier1	-	no_errors	ENST00000316843	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.926	A
LMAN1	3998	genome.wustl.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:57013285delT	ENST00000251047.5	-	8	1540		c.e8-2		LMAN1_ENST00000587940.1_Splice_Site	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGTGTGGGCTTTTTTTTGGA	0.294																																																	0													75.0	83.0	80.0					18																	57013285		2202	4298	6500	SO:0001630	splice_region_variant	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.823-2A>-	18.37:g.57013285delT			Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Splice_Site	DEL	-	e8-2	ENST00000251047.5	37	c.823-2	CCDS11974.1	18																																																																																			LMAN1	-	-	ENSG00000074695		0.294	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2		0.00	54	0	T	NM_005570	Intron	57013285	-1	tier1		no_errors	ENST00000251047	ensembl	human	known	74_37	splice_site_del	26.67	33	12	DEL	1.000	-
LMAN1	3998	genome.wustl.edu	37	18	57026329	57026329	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:57026329A>T	ENST00000251047.5	-	1	865	c.148T>A	c.(148-150)Tac>Aac	p.Y50N	RP11-27G24.1_ENST00000591331.1_lincRNA	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	50	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TTGAAGCTGTATTTGTACTCG	0.687																																																	0													66.0	71.0	70.0					18																	57026329		2203	4300	6503	SO:0001583	missense	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.148T>A	18.37:g.57026329A>T	ENSP00000251047:p.Tyr50Asn		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom	p.Y50N	ENST00000251047.5	37	c.148	CCDS11974.1	18	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279471	0.80692	.	.	ENSG00000074695	ENST00000251047	T	0.64085	-0.08	3.83	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.080740	0.52532	D	0.000078	T	0.74749	0.3757	M	0.80422	2.495	0.80722	D	1	D;P	0.52996	0.957;0.697	P;P	0.57244	0.816;0.465	T	0.78804	-0.2060	10	0.59425	D	0.04	-5.4808	12.7359	0.57222	1.0:0.0:0.0:0.0	.	50;50	B4DVV0;P49257	.;LMAN1_HUMAN	N	50	ENSP00000251047:Y50N	ENSP00000251047:Y50N	Y	-	1	0	LMAN1	55177309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.173000	0.89680	1.732000	0.51606	0.459000	0.35465	TAC	LMAN1	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	ENSG00000074695		0.687	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	-	0.00	128	0	A	NM_005570		57026329	-1	tier1	-	no_errors	ENST00000251047	ensembl	human	known	74_37	missense	7.53	86	7	SNP	1.000	T
LMAN2L	81562	genome.wustl.edu	37	2	97377431	97377431	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:97377431T>A	ENST00000264963.4	-	6	768	c.746A>T	c.(745-747)tAc>tTc	p.Y249F	LMAN2L_ENST00000537039.1_Missense_Mutation_p.Y111F|LMAN2L_ENST00000426463.2_Missense_Mutation_p.Y115F|LMAN2L_ENST00000377079.4_Missense_Mutation_p.Y260F|LMAN2L_ENST00000534882.1_Missense_Mutation_p.Y104F	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	249	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GCCGAAGTAGTAGCCGCGGGG	0.522																																																	0													72.0	74.0	73.0					2																	97377431		2203	4300	6503	SO:0001583	missense	0			AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.746A>T	2.37:g.97377431T>A	ENSP00000264963:p.Tyr249Phe		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.Y260F	ENST00000264963.4	37	c.779	CCDS2023.1	2	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772558	0.69992	.	.	ENSG00000114988	ENST00000264963;ENST00000377079;ENST00000426463;ENST00000537039;ENST00000534882	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	L	0.55017	1.72	0.80722	D	1	B;B;B;P;P	0.42757	0.314;0.348;0.314;0.789;0.519	B;P;B;P;P	0.54312	0.328;0.537;0.219;0.719;0.748	T	0.63752	-0.6566	10	0.16420	T	0.52	.	14.9947	0.71421	0.0:0.0:0.0:1.0	.	104;122;115;260;249	B4DVH1;B4DI83;B4DSH3;Q9H0V9-2;Q9H0V9	.;.;.;.;LMA2L_HUMAN	F	249;260;115;111;104	ENSP00000264963:Y249F;ENSP00000366280:Y260F;ENSP00000396391:Y115F;ENSP00000441701:Y111F;ENSP00000438501:Y104F	ENSP00000264963:Y249F	Y	-	2	0	LMAN2L	96741158	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.230000	0.72301	2.180000	0.69256	0.482000	0.46254	TAC	LMAN2L	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	ENSG00000114988		0.522	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMAN2L	HGNC	protein_coding	OTTHUMT00000252844.1		0.00	43	0	T	NM_030805		97377431	-1			no_errors	ENST00000377079	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	A
LMCD1	29995	genome.wustl.edu	37	3	8578939	8578939	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:8578939G>A	ENST00000157600.3	+	3	432	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_5'UTR|LMCD1_ENST00000535732.1_Missense_Mutation_p.R67Q	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	67					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GAAGACGATCGGAAAATTGGC	0.532																																																	0													84.0	80.0	81.0					3																	8578939		2203	4300	6503	SO:0001583	missense	0			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.200G>A	3.37:g.8578939G>A	ENSP00000157600:p.Arg67Gln		B4DG80	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R67Q	ENST00000157600.3	37	c.200	CCDS33688.1	3	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638875	0.47153	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732;ENST00000426878	T;D;T;T	0.86230	0.87;-2.09;-1.07;-1.07	5.51	4.64	0.57946	.	0.100659	0.44688	D	0.000431	T	0.82130	0.4970	L	0.45352	1.415	0.80722	D	1	B	0.22541	0.071	B	0.11329	0.006	T	0.78091	-0.2339	10	0.44086	T	0.13	-23.2531	12.9193	0.58222	0.0787:0.0:0.9213:0.0	.	67	Q9NZU5	LMCD1_HUMAN	Q	67;73;67;24	ENSP00000157600:R67Q;ENSP00000400555:R73Q;ENSP00000441100:R67Q;ENSP00000411222:R24Q	ENSP00000157600:R67Q	R	+	2	0	LMCD1	8553939	1.000000	0.71417	0.977000	0.42913	0.818000	0.46254	4.018000	0.57174	1.319000	0.45190	0.655000	0.94253	CGG	LMCD1	-	NULL	ENSG00000071282		0.532	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMCD1	HGNC	protein_coding	OTTHUMT00000337854.1	-	0.00	35	0	G	NM_014583		8578939	+1	tier1	-	no_errors	ENST00000157600	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	A
LMLN	89782	genome.wustl.edu	37	3	197687103	197687103	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:197687103C>A	ENST00000330198.4	+	1	33	c.11C>A	c.(10-12)aCg>aAg	p.T4K	LMLN_ENST00000332636.5_5'Flank|IQCG_ENST00000480302.1_5'Flank|LMLN_ENST00000482695.1_5'UTR|LMLN_ENST00000420910.2_Missense_Mutation_p.T4K|IQCG_ENST00000265239.6_5'Flank	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	4					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		ATGGTAACGACGCTCGGCCCG	0.746																																																	0													15.0	19.0	18.0					3																	197687103		2197	4295	6492	SO:0001583	missense	0			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.11C>A	3.37:g.197687103C>A	ENSP00000328829:p.Thr4Lys		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.T4K	ENST00000330198.4	37	c.11	CCDS3332.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765121	0.90020	.	.	ENSG00000185621	ENST00000330198;ENST00000420910	T;T	0.44482	0.93;0.92	4.22	4.22	0.49857	.	0.000000	0.39020	N	0.001499	T	0.25494	0.0620	N	0.19112	0.55	0.80722	D	1	P;P	0.39424	0.543;0.673	B;B	0.31547	0.098;0.132	T	0.19910	-1.0291	10	0.87932	D	0	-3.053	12.3587	0.55190	0.0:1.0:0.0:0.0	.	4;4	Q96KR4;F8WB28	LMLN_HUMAN;.	K	4	ENSP00000328829:T4K;ENSP00000410926:T4K	ENSP00000328829:T4K	T	+	2	0	LMLN	199171500	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.762000	0.38451	2.360000	0.80028	0.456000	0.33151	ACG	LMLN	-	NULL	ENSG00000185621		0.746	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	-	0.00	17	0	C	NM_033029		197687103	+1	tier1	-	no_errors	ENST00000330198	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	A
LMO7	4008	genome.wustl.edu	37	13	76432182	76432183	+	3'UTR	INS	-	-	TA	rs541046510|rs532445404	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:76432182_76432183insTA	ENST00000321797.8	+	0	5021_5022				LMO7_ENST00000357063.3_3'UTR|LMO7_ENST00000526202.1_3'UTR|LMO7_ENST00000377534.3_3'UTR|LMO7_ENST00000341547.4_3'UTR|LMO7_ENST00000605961.1_3'UTR|LMO7_ENST00000465261.2_3'UTR			Q8WWI1	LMO7_HUMAN	LIM domain 7						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCTTTTTTTTTAAAAAAAAGAA	0.312																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.*104->TA	13.37:g.76432182_76432183insTA			E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	RNA	INS	-	NULL	ENST00000321797.8	37	NULL		13																																																																																			LMO7	-	-	ENSG00000136153		0.312	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3		0.00	61	0	-	NM_005358		76432183	+1	tier1		no_errors	ENST00000605961	ensembl	human	known	74_37	rna	24.19	47	15	INS	0.669:0.209	TA
LMOD1	25802	genome.wustl.edu	37	1	201869461	201869461	+	Missense_Mutation	SNP	C	C	T	rs199655500	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:201869461C>T	ENST00000367288.4	-	2	926	c.680G>A	c.(679-681)cGt>cAt	p.R227H	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	227	8 X approximate tandem repeats.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTGTTCCTACGctccccttt	0.473													C|||	5	0.000998403	0.0008	0.0	5008	,	,		21570	0.004		0.0	False		,,,				2504	0.0																0								C	HIS/ARG	0,4040		0,0,2020	133.0	123.0	126.0		680	4.3	0.0	1		126	2,8350		0,2,4174	yes	missense	LMOD1	NM_012134.2	29	0,2,6194	TT,TC,CC		0.0239,0.0,0.0161	possibly-damaging	227/601	201869461	2,12390	2020	4176	6196	SO:0001583	missense	0			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.680G>A	1.37:g.201869461C>T	ENSP00000356257:p.Arg227His		B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R227H	ENST00000367288.4	37	c.680	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909846	0.33721	0.0	2.39E-4	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.22743	1.94	5.25	4.32	0.51571	.	0.643235	0.12779	N	0.439816	T	0.10937	0.0267	N	0.14661	0.345	0.09310	N	1	P;P	0.48350	0.909;0.909	B;B	0.32805	0.153;0.099	T	0.08166	-1.0735	10	0.40728	T	0.16	-0.2748	12.3196	0.54977	0.0:0.9156:0.0:0.0844	.	176;227	B4E3S9;P29536	.;LMOD1_HUMAN	H	227;227;176	ENSP00000356257:R227H	ENSP00000356257:R227H	R	-	2	0	LMOD1	200136084	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.238000	0.02919	1.312000	0.45043	0.655000	0.94253	CGT	LMOD1	-	NULL	ENSG00000163431		0.473	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	-	0.00	109	0	C			201869461	-1	tier1	rs199655500	no_errors	ENST00000367288	ensembl	human	known	74_37	missense	9.68	56	6	SNP	0.012	T
LMTK3	114783	genome.wustl.edu	37	19	49003054	49003054	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49003054G>T	ENST00000600059.1	-	11	1499	c.1272C>A	c.(1270-1272)ccC>ccA	p.P424P	LMTK3_ENST00000270238.3_Silent_p.P453P			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	424	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCGGGGTGGGGGTGGCGGCG	0.721																																																	0													2.0	3.0	2.0					19																	49003054		1223	2848	4071	SO:0001819	synonymous_variant	0			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1272C>A	19.37:g.49003054G>T			Q4G0U1	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P453	ENST00000600059.1	37	c.1359		19																																																																																			LMTK3	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom	ENSG00000142235		0.721	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	-	0.00	50	0	G	NM_052895		49003054	-1	tier1	-	no_errors	ENST00000270238	ensembl	human	known	74_37	silent	23.81	32	10	SNP	0.889	T
LNPEP	4012	genome.wustl.edu	37	5	96315249	96315249	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:96315249delA	ENST00000231368.5	+	2	1119	c.427delA	c.(427-429)aaafs	p.K144fs	LNPEP_ENST00000395770.3_Frame_Shift_Del_p.K130fs	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	144					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGGCTGCCATAAAAAAAACCA	0.448																																																	0													70.0	73.0	72.0					5																	96315249		2203	4300	6503	SO:0001589	frameshift_variant	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.427delA	5.37:g.96315249delA	ENSP00000231368:p.Lys144fs		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Frame_Shift_Del	DEL	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.N145fs	ENST00000231368.5	37	c.427	CCDS4087.1	5																																																																																			LNPEP	-	NULL	ENSG00000113441		0.448	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1		0.00	34	0	A	NM_005575		96315249	+1	tier1		no_errors	ENST00000231368	ensembl	human	known	74_37	frame_shift_del	10.00	27	3	DEL	0.910	-
PKP4	8502	genome.wustl.edu	37	2	159517033	159517033	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:159517033C>T	ENST00000389759.3	+	13	2205				PKP4_ENST00000389757.3_Intron|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4						cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAGATGAGAGCCGCCATTCCA	0.473										HNSCC(62;0.18)																																							0																																										SO:0001627	intron_variant	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2094-812C>T	2.37:g.159517033C>T			Q86W91	RNA	SNP	-	NULL	ENST00000389759.3	37	NULL	CCDS33305.1	2																																																																																			AC005042.4	-	-	ENSG00000204380		0.473	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100129029	Clone_based_vega_gene	protein_coding	OTTHUMT00000333250.1	-	0.00	55	0	C			159517033	-1	tier1	-	no_errors	ENST00000342892	ensembl	human	known	74_37	rna	14.58	41	7	SNP	0.000	T
LOC100190940	100190940	genome.wustl.edu	37	12	130520718	130520718	+	lincRNA	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:130520718G>A	ENST00000567788.1	-	0	1983				RP11-474D1.4_ENST00000561864.1_lincRNA																							actcgtccccggtggataagT	0.483																																																	0																																												0																															12.37:g.130520718G>A				RNA	SNP	-	NULL	ENST00000567788.1	37	NULL		12																																																																																			RP11-474D1.3	-	-	ENSG00000214039		0.483	RP11-474D1.3-001	KNOWN	basic	lincRNA	LOC100190940	Clone_based_vega_gene	lincRNA	OTTHUMT00000399498.1		0.00	23	0	G			130520718	-1			no_errors	ENST00000291374	ensembl	human	known	74_37	rna	38.89	11	7	SNP	0.116	A
FLRT2	23768	genome.wustl.edu	37	14	85996121	85996121	+	5'Flank	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:85996121G>A	ENST00000330753.4	+	0	0				FLRT2_ENST00000554746.1_5'Flank|RP11-497E19.1_ENST00000380722.1_lincRNA	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGAAGTAAAGGAATAAAACCA	0.493																																																	0																																										SO:0001631	upstream_gene_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155			14.37:g.85996121G>A	Exception_encountered		A0AV84|B7ZLP3	RNA	SNP	-	NULL	ENST00000330753.4	37	NULL	CCDS9877.1	14																																																																																			RP11-497E19.1	-	-	ENSG00000205562		0.493	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100506731	Clone_based_vega_gene	protein_coding	OTTHUMT00000413193.1	-	0.00	84	0	G			85996121	-1	tier1	-	no_errors	ENST00000380722	ensembl	human	known	74_37	rna	8.64	74	7	SNP	0.079	A
LOC100996415	100996415	genome.wustl.edu	37	22	20342668	20342668	+	RNA	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:20342668T>C	ENST00000454636.1	+	0	1361				XXbac-B33L19.6_ENST00000429995.1_lincRNA	NR_038388.1																						GAGGACGCTGTATACGACATC	0.502																																																	0																																												0																															22.37:g.20342668T>C				RNA	SNP	-	NULL	ENST00000454636.1	37	NULL		22																																																																																			XXbac-B33L19.3	-	-	ENSG00000188424		0.502	XXbac-B33L19.3-001	KNOWN	not_best_in_genome_evidence|basic	antisense	LOC100996415	Clone_based_vega_gene	antisense	OTTHUMT00000319010.2	-	0.00	17	0	T			20342668	+1	tier1	-	no_errors	ENST00000454636	ensembl	human	known	74_37	rna	53.33	7	8	SNP	0.001	C
LINC01579	283682	genome.wustl.edu	37	15	94364263	94364263	+	lincRNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:94364263C>T	ENST00000557481.2	-	0	496																											GGCAGGCACACAAGCTCCCTG	0.443																																																	0																																												0																															15.37:g.94364263C>T				RNA	SNP	-	NULL	ENST00000557481.2	37	NULL		15																																																																																			CTD-3049M7.1	-	-	ENSG00000258754		0.443	CTD-3049M7.1-001	KNOWN	basic	lincRNA	LOC101927091	Clone_based_vega_gene	lincRNA	OTTHUMT00000415163.2	-	0.00	48	0	C			94364263	-1	tier1	-	no_errors	ENST00000553818	ensembl	human	known	74_37	rna	26.67	33	12	SNP	0.000	T
RP11-435B5.5	0	genome.wustl.edu	37	1	143391692	143391692	+	lincRNA	SNP	T	T	G	rs554222419	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:143391692T>G	ENST00000428624.1	+	0	1908				RP11-435B5.4_ENST00000423249.1_lincRNA																							TGTGAAAAACTTGAGGAAGAT	0.289																																																	0																																												0																															1.37:g.143391692T>G				RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			RP11-435B5.5	-	-	ENSG00000238261		0.289	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927345	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	-	0.00	380	0	T			143391692	+1	tier1	-	no_errors	ENST00000412492	ensembl	human	known	74_37	rna	6.63	338	24	SNP	0.913	G
RP11-435B5.5	0	genome.wustl.edu	37	1	143392642	143392642	+	lincRNA	DEL	A	A	-	rs200637262		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:143392642delA	ENST00000428624.1	+	0	2265				RP11-435B5.4_ENST00000423249.1_lincRNA																							GTTCCATGTCAAAAAAATTAA	0.308																																																	0																																												0																															1.37:g.143392642delA				RNA	DEL	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			RP11-435B5.5	-	-	ENSG00000238261		0.308	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927345	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1		0.00	134	0	A			143392642	+1			no_errors	ENST00000415543	ensembl	human	known	74_37	rna	5.23	145	8	DEL	0.000	0
LOC105372277	105372277	genome.wustl.edu	37	19	12494418	12494418	+	Silent	SNP	G	G	A	rs564113199		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:12494418G>A	ENST00000435033.1	-	2	290	c.87C>T	c.(85-87)taC>taT	p.Y29Y																								TCACATCTTCGTAGAGATTCT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		16176	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001819	synonymous_variant	0																														ENST00000435033.1:c.87C>T	19.37:g.12494418G>A				Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.Y29	ENST00000435033.1	37	c.87		19																																																																																			CTD-3105H18.14	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000268744		0.473	CTD-3105H18.14-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	LOC101928664	Clone_based_vega_gene	protein_coding	OTTHUMT00000344100.1	-	0.00	114	0	G			12494418	-1	tier1	-	no_errors	ENST00000435033	ensembl	human	known	74_37	silent	12.04	95	13	SNP	0.863	A
LOC400499	400499	genome.wustl.edu	37	16	11554935	11554935	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:11554935G>A	ENST00000344649.3	-	13	1763	c.231C>T	c.(229-231)gcC>gcT	p.A77A																								CACCCAGGGCGGCCACCCTCC	0.667																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000344649.3:c.231C>T	16.37:g.11554935G>A				Silent	SNP	NULL	p.A77	ENST00000344649.3	37	c.231		16																																																																																			CTD-3088G3.8	-	NULL	ENSG00000188897		0.667	CTD-3088G3.8-201	KNOWN	basic|appris_principal	protein_coding	LOC101929274	Clone_based_vega_gene	protein_coding		-	0.00	55	0	G			11554935	-1	tier1	-	no_errors	ENST00000344649	ensembl	human	known	74_37	silent	19.61	41	10	SNP	0.000	A
SLC25A18	83733	genome.wustl.edu	37	22	18064286	18064286	+	Intron	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:18064286delG	ENST00000327451.6	+	5	737				SLC25A18_ENST00000399813.1_Intron|AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_Intron	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18							integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		AGGGCTGCCAGGGGGTCCTTC	0.647																																					Colon(118;1560 1625 18964 29606 50093)												0																																										SO:0001627	intron_variant	0			AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.199+107G>-	22.37:g.18064286delG				RNA	DEL	-	NULL	ENST00000327451.6	37	NULL	CCDS13744.1	22																																																																																			AC004019.13	-	-	ENSG00000236754		0.647	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929372	Clone_based_vega_gene	protein_coding	OTTHUMT00000316214.3		0.00	26	0	G	NM_031481		18064286	-1	tier1		no_errors	ENST00000443935	ensembl	human	known	74_37	rna	13.51	32	5	DEL	0.000	-
GOLGA2P7	388152	genome.wustl.edu	37	15	84868578	84868579	+	RNA	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:84868578_84868579insC	ENST00000559668.1	-	0	3736_3737					NR_049748.1																						ACCAGAGACTGCCCCCCACGGC	0.658																																																	0																																												0																															15.37:g.84868584_84868584dupC				RNA	INS	-	NULL	ENST00000559668.1	37	NULL		15																																																																																			AC103965.1	-	-	ENSG00000225151		0.658	AC103965.1-008	KNOWN	basic	processed_transcript	LOC101929847	Clone_based_vega_gene	pseudogene	OTTHUMT00000418802.1		0.00	127	0	-			84868579	-1	tier1		no_errors	ENST00000316967	ensembl	human	known	74_37	rna	24.32	84	27	INS	0.003:0.002	C
POTEG	404785	genome.wustl.edu	37	14	19563232	19563232	+	Intron	SNP	T	T	C	rs572050981	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:19563232T>C	ENST00000409832.3	+	5	969				CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCTTCCTTTTAACCTTGGTG	0.368													C|||	234	0.0467252	0.0371	0.0375	5008	,	,		9293	0.0575		0.0646	False		,,,				2504	0.0368																0																																										SO:0001627	intron_variant	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.918-172T>C	14.37:g.19563232T>C			A1L153|A6NMI9|Q6S5H6|Q6S8J2	RNA	SNP	-	NULL	ENST00000409832.3	37	NULL	CCDS32018.1	14																																																																																			CTD-2311B13.5	-	-	ENSG00000258252		0.368	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929948	Clone_based_vega_gene	protein_coding	OTTHUMT00000408579.1	-	0.00	26	0	T	NM_001005356		19563232	-1	tier1	-	no_errors	ENST00000548748	ensembl	human	known	74_37	rna	51.02	24	25	SNP	0.050	C
LOC202181	202181	genome.wustl.edu	37	5	177099156	177099156	+	RNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:177099156C>T	ENST00000515045.1	-	0	54					NR_026921.1																						TCCATGGCTGCGGGCCCCGAC	0.756																																																	0																																												0																															5.37:g.177099156C>T				RNA	SNP	-	NULL	ENST00000515045.1	37	NULL		5																																																																																			RP11-1277A3.2	-	-	ENSG00000246596		0.756	RP11-1277A3.2-002	KNOWN	basic	processed_transcript	LOC202181	Clone_based_vega_gene	pseudogene	OTTHUMT00000373167.1	-	0.00	38	0	C			177099156	-1	tier1	-	no_errors	ENST00000515045	ensembl	human	known	74_37	rna	33.33	10	5	SNP	0.886	T
LOC344967	344967	genome.wustl.edu	37	4	40045118	40045118	+	RNA	SNP	C	C	T	rs572536100		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:40045118C>T	ENST00000381811.2	-	0	1031					NR_027277.1																						AAGATCCCGGCGACCTCGTCC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20325	0.0		0.001	False		,,,				2504	0.0																0																																												0																															4.37:g.40045118C>T				RNA	SNP	-	NULL	ENST00000381811.2	37	NULL		4																																																																																			RP11-333E13.4	-	-	ENSG00000205794		0.552	RP11-333E13.4-002	KNOWN	basic	processed_transcript	LOC344967	Clone_based_vega_gene	pseudogene	OTTHUMT00000361278.1	-	0.00	43	0	C			40045118	-1	tier1	-	no_errors	ENST00000381811	ensembl	human	known	74_37	rna	22.45	38	11	SNP	0.899	T
LOC285556	285556	genome.wustl.edu	37	4	100575742	100575742	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:100575742C>T	ENST00000511828.1	-	1	63	c.64G>A	c.(64-66)Gat>Aat	p.D22N																								TGAATGCCATCGGCCACGGAA	0.562																																																	0																																										SO:0001583	missense	0																														ENST00000511828.1:c.64G>A	4.37:g.100575742C>T	ENSP00000427555:p.Asp22Asn			Missense_Mutation	SNP	NULL	p.D22N	ENST00000511828.1	37	c.64		4	.	.	.	.	.	.	.	.	.	.	C	7.876	0.729162	0.15507	.	.	ENSG00000248713	ENST00000511828	T	0.33216	1.42	4.9	-1.7	0.08159	.	.	.	.	.	T	0.13500	0.0327	N	0.08118	0	.	.	.	.	.	.	.	.	.	T	0.28038	-1.0056	6	0.36615	T	0.2	.	4.6681	0.12675	0.0:0.2384:0.3137:0.4479	.	.	.	.	N	22	ENSP00000427555:D22N	ENSP00000427555:D22N	D	-	1	0	RP11-766F14.2	100794765	1.000000	0.71417	0.050000	0.19076	0.796000	0.44982	0.689000	0.25437	-0.239000	0.09710	-0.136000	0.14681	GAT	RP11-766F14.2	-	NULL	ENSG00000248713		0.562	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	Clone_based_vega_gene	protein_coding	OTTHUMT00000365456.1	-	0.00	114	0	C			100575742	-1	tier1	-	no_errors	ENST00000511828	ensembl	human	putative	74_37	missense	14.43	83	14	SNP	0.469	T
LOC399815	399815	genome.wustl.edu	37	10	124648141	124648141	+	RNA	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:124648141C>A	ENST00000425266.1	+	0	193																											TGCCTTTTCTCCAGAATTTAT	0.413																																																	0																																												0																															10.37:g.124648141C>A				RNA	SNP	-	NULL	ENST00000425266.1	37	NULL		10																																																																																			RP11-564D11.3	-	-	ENSG00000255624		0.413	RP11-564D11.3-002	PUTATIVE	basic	processed_transcript	LOC399815	Clone_based_vega_gene	pseudogene	OTTHUMT00000331659.1	-	0.00	69	0	C			124648141	+1	tier1	-	no_errors	ENST00000425266	ensembl	human	putative	74_37	rna	6.25	60	4	SNP	0.919	A
LOC400794	400794	genome.wustl.edu	37	1	165550908	165550908	+	RNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:165550908C>T	ENST00000438275.1	-	0	457				RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA																							TGGTGGCTTCCGTGGAGGTTT	0.687																																																	0																																												0																															1.37:g.165550908C>T				RNA	SNP	-	NULL	ENST00000438275.1	37	NULL		1																																																																																			RP11-280O1.2	-	-	ENSG00000237463		0.687	RP11-280O1.2-002	KNOWN	non_canonical_TEC|basic	antisense	LOC400794	Clone_based_vega_gene	antisense	OTTHUMT00000083787.1	-	0.00	21	0	C			165550908	-1	tier1	-	no_errors	ENST00000416424	ensembl	human	known	74_37	rna	20.00	20	5	SNP	0.999	T
LOC440040	440040	genome.wustl.edu	37	11	49831722	49831722	+	RNA	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:49831722C>A	ENST00000527477.1	+	0	1947																											TCAAAGCTCCCCTATATACAC	0.423																																																	0																																												0																															11.37:g.49831722C>A				RNA	SNP	-	NULL	ENST00000527477.1	37	NULL		11																																																																																			RP11-707M1.1	-	-	ENSG00000205035		0.423	RP11-707M1.1-003	KNOWN	basic	processed_transcript	LOC440040	Clone_based_vega_gene	pseudogene	OTTHUMT00000391378.2	-	0.00	231	0	C			49831722	+1	tier1	-	no_errors	ENST00000527477	ensembl	human	known	74_37	rna	26.32	154	55	SNP	0.013	A
GOLGA2P9	440518	genome.wustl.edu	37	19	22784760	22784760	+	RNA	SNP	A	A	G	rs530481928	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:22784760A>G	ENST00000599738.1	+	0	0				RN7SL860P_ENST00000473738.2_RNA|CTC-457E21.3_ENST00000600260.1_RNA|AC011467.1_ENST00000408863.1_RNA																							gaagaagaagaaggaggagaa	0.607													A|||	17	0.00339457	0.003	0.0014	5008	,	,		8845	0.0		0.0099	False		,,,				2504	0.002																0																																												0																															19.37:g.22784760A>G				RNA	SNP	-	NULL	ENST00000599738.1	37	NULL		19																																																																																			CTC-457E21.3	-	-	ENSG00000269332		0.607	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	LOC440518	Clone_based_vega_gene	processed_transcript	OTTHUMT00000464575.1	-	0.00	18	0	A			22784760	+1	tier1	-	no_errors	ENST00000600260	ensembl	human	known	74_37	rna	26.32	14	5	SNP	0.006	G
LINC01123	440894	genome.wustl.edu	37	2	110742074	110742074	+	lincRNA	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:110742074A>G	ENST00000419296.1	+	0	0					NR_046110.1																						GCAACTGTGGATGCAGCTGCA	0.632																																																	0																																												0																															2.37:g.110742074A>G				RNA	SNP	-	NULL	ENST00000419296.1	37	NULL		2																																																																																			AC013271.3	-	-	ENSG00000186148		0.632	AC013268.5-003	KNOWN	basic	lincRNA	LOC440895	Clone_based_vega_gene	lincRNA	OTTHUMT00000337869.1	-	0.00	66	0	A			110742074	+1	tier1	-	no_errors	ENST00000454928	ensembl	human	known	74_37	rna	20.90	53	14	SNP	0.950	G
SPANXA2-OT1	619455	genome.wustl.edu	37	X	140714666	140714666	+	RNA	DEL	A	A	-	rs193189419		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:140714666delA	ENST00000421554.1	+	0	572				RP1-171K16.5_ENST00000412163.1_lincRNA	NR_037183.1		Q8N9U9	SPOT1_HUMAN	SPANXA2 overlapping transcript 1																		CCACAGTAATAAAAAAAGGGA	0.388																																																	0																																												0			AK093505		Xq27.2	2014-06-02	2014-06-02	2011-08-31	ENSG00000226574	ENSG00000277215		"""Long non-coding RNAs"", ""-"""	31683	non-coding RNA	RNA, long non-coding			"""chromosome X open reading frame 18"", ""SPANXA2 overlapping transcript 1 (non-protein coding)"""	CXorf18			Standard	NR_037183		Approved	FLJ36186	uc004fbm.1	Q8N9U9	OTTHUMG00000022566		X.37:g.140714666delA				RNA	DEL	-	NULL	ENST00000421554.1	37	NULL		X																																																																																			RP1-171K16.5	-	-	ENSG00000223438		0.388	SPANXA2-OT1-001	KNOWN	basic	processed_transcript	LOC645188	Clone_based_vega_gene	processed_transcript	OTTHUMT00000058601.2		0.00	51	0	A	NR_037183		140714666	+1	tier1		no_errors	ENST00000412163	ensembl	human	known	74_37	rna	20.00	36	9	DEL	0.000	-
LOC728715	728715	genome.wustl.edu	37	12	9720433	9720433	+	RNA	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:9720433delG	ENST00000520314.1	+	0	4676																											ctaagagccaggggggtaaga	0.692													|||unknown(NO_COVERAGE)	11	0.00219649	0.0061	0.0043	5008	,	,		7081	0.0		0.0	False		,,,				2504	0.0																0																																												0																															12.37:g.9720433delG				RNA	DEL	-	NULL	ENST00000520314.1	37	NULL		12																																																																																			RP11-726G1.1	-	-	ENSG00000214776		0.692	RP11-726G1.1-002	KNOWN	basic	processed_transcript	LOC728715	Clone_based_vega_gene	pseudogene	OTTHUMT00000381543.1		0.00	9	0	G			9720433	+1			no_errors	ENST00000520314	ensembl	human	known	74_37	rna	58.33	5	7	DEL	0.006	0
TRY2P	207147	genome.wustl.edu	37	7	141971109	141971109	+	RNA	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:141971109delC	ENST00000334288.5	-	0	294					NR_036483.1																						GAGTCTTTAGCCAGAGCAGCT	0.438																																																	0																																												0																															7.37:g.141971109delC				RNA	DEL	-	NULL	ENST00000334288.5	37	NULL		7																																																																																			U66059.29	-	-	ENSG00000186163		0.438	U66059.29-002	KNOWN	basic	processed_transcript	LOC730441	Clone_based_vega_gene	pseudogene	OTTHUMT00000351332.2		0.00	20	0	C			141971109	-1	tier1		no_errors	ENST00000334288	ensembl	human	known	74_37	rna	13.79	25	4	DEL	0.000	-
LOXL4	84171	genome.wustl.edu	37	10	100019168	100019168	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:100019168C>A	ENST00000260702.3	-	5	831	c.681G>T	c.(679-681)aaG>aaT	p.K227N	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	227	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGTCCCTCATCTTCAGATCCC	0.562																																																	0													91.0	83.0	85.0					10																	100019168		2203	4300	6503	SO:0001583	missense	0			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.681G>T	10.37:g.100019168C>A	ENSP00000260702:p.Lys227Asn		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.K227N	ENST00000260702.3	37	c.681	CCDS7473.1	10	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533408	0.64972	.	.	ENSG00000138131	ENST00000260702	T	0.28666	1.6	4.45	4.45	0.53987	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	N	0.14661	0.345	0.53688	D	0.999977	D	0.89917	1.0	D	0.68765	0.96	T	0.46233	-0.9206	10	0.66056	D	0.02	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	227	Q96JB6	LOXL4_HUMAN	N	227	ENSP00000260702:K227N	ENSP00000260702:K227N	K	-	3	2	LOXL4	100009158	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	2.100000	0.41777	2.309000	0.77851	0.462000	0.41574	AAG	LOXL4	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000138131		0.562	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL4	HGNC	protein_coding	OTTHUMT00000049766.1	-	0.00	38	0	C	NM_032211		100019168	-1	tier1	-	no_errors	ENST00000260702	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	A
LPHN1	22859	genome.wustl.edu	37	19	14288527	14288527	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14288527G>A	ENST00000340736.6	-	3	397	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	LPHN1_ENST00000361434.3_Silent_p.L34L	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	34					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGCGCATCAGCCCGAACGGG	0.682																																																	0													43.0	39.0	40.0					19																	14288527		2203	4299	6502	SO:0001819	synonymous_variant	0			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.100C>T	19.37:g.14288527G>A			Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.L34	ENST00000340736.6	37	c.100	CCDS32928.1	19																																																																																			LPHN1	-	NULL	ENSG00000072071		0.682	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	-	0.00	19	0	G	NM_014921		14288527	-1	tier1	-	no_errors	ENST00000340736	ensembl	human	known	74_37	silent	19.05	17	4	SNP	1.000	A
LPIN1	23175	genome.wustl.edu	37	2	11960543	11960543	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:11960543T>C	ENST00000256720.2	+	19	2509	c.2416T>C	c.(2416-2418)Tat>Cat	p.Y806H	LPIN1_ENST00000449576.2_Missense_Mutation_p.Y891H|LPIN1_ENST00000396099.1_Missense_Mutation_p.Y848H|LPIN1_ENST00000404113.2_Missense_Mutation_p.Y307H|LPIN1_ENST00000425416.2_Missense_Mutation_p.Y812H|LPIN1_ENST00000396097.1_Missense_Mutation_p.Y536H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	806	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ATAGGATGTGTATTCATACAA	0.348																																																	0													103.0	99.0	100.0					2																	11960543		2203	4300	6503	SO:0001583	missense	0			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2416T>C	2.37:g.11960543T>C	ENSP00000256720:p.Tyr806His		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.Y891H	ENST00000256720.2	37	c.2671	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	T	22.3	4.271188	0.80469	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.02	4.85	0.62838	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.055928	0.64402	D	0.000001	D	0.85754	0.5770	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.995	D;D;D	0.91635	0.981;0.999;0.95	D	0.86337	0.1702	10	0.66056	D	0.02	-24.2992	13.3687	0.60701	0.0:0.0:0.1316:0.8684	.	307;891;806	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	H	891;848;812;806;536;307	ENSP00000397908:Y891H;ENSP00000379406:Y848H;ENSP00000401522:Y812H;ENSP00000256720:Y806H;ENSP00000379404:Y536H;ENSP00000386120:Y307H	ENSP00000256720:Y806H	Y	+	1	0	LPIN1	11877994	1.000000	0.71417	0.984000	0.44739	0.959000	0.62525	7.603000	0.82811	1.074000	0.40909	0.533000	0.62120	TAT	LPIN1	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000134324		0.348	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	-	0.00	53	0	T	NM_145693		11960543	+1	tier1	-	no_errors	ENST00000449576	ensembl	human	known	74_37	missense	26.42	39	14	SNP	1.000	C
LPIN1	23175	genome.wustl.edu	37	2	11964848	11964848	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:11964848T>C	ENST00000256720.2	+	20	2697	c.2604T>C	c.(2602-2604)agT>agC	p.S868S	LPIN1_ENST00000449576.2_Silent_p.S953S|LPIN1_ENST00000396099.1_Silent_p.S910S|LPIN1_ENST00000404113.2_Silent_p.S369S|LPIN1_ENST00000425416.2_Silent_p.S874S|LPIN1_ENST00000396097.1_Silent_p.S598S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	868					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ATACCTTCAGTAACTTCACCT	0.483																																																	0													129.0	127.0	128.0					2																	11964848		2203	4300	6503	SO:0001819	synonymous_variant	0			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2604T>C	2.37:g.11964848T>C			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.S953	ENST00000256720.2	37	c.2859	CCDS1682.1	2																																																																																			LPIN1	-	NULL	ENSG00000134324		0.483	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	-	0.00	38	0	T	NM_145693		11964848	+1	tier1	-	no_errors	ENST00000449576	ensembl	human	known	74_37	silent	27.78	26	10	SNP	0.906	C
LPIN3	64900	genome.wustl.edu	37	20	39981291	39981291	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:39981291A>C	ENST00000373257.3	+	10	1500	c.1409A>C	c.(1408-1410)aAc>aCc	p.N470T		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	470					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTCACCAAAAACCCCGGACTT	0.547																																																	0													164.0	180.0	175.0					20																	39981291		2203	4300	6503	SO:0001583	missense	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1409A>C	20.37:g.39981291A>C	ENSP00000362354:p.Asn470Thr		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.N470T	ENST00000373257.3	37	c.1409	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234405	0.58886	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	D	0.84223	-1.82	4.89	4.89	0.63831	.	0.112350	0.56097	D	0.000023	D	0.92731	0.7689	M	0.88775	2.98	0.58432	D	0.999992	D;P	0.67145	0.996;0.561	D;B	0.70016	0.967;0.157	D	0.93724	0.7035	9	.	.	.	-22.1703	13.3518	0.60605	1.0:0.0:0.0:0.0	.	471;470	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	T	470;134	ENSP00000362354:N470T	.	N	+	2	0	LPIN3	39414705	1.000000	0.71417	0.888000	0.34837	0.227000	0.25037	9.315000	0.96313	1.839000	0.53478	0.402000	0.26972	AAC	LPIN3	-	NULL	ENSG00000132793		0.547	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0.00	73	0	A	NM_022896		39981291	+1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	22.58	48	14	SNP	1.000	C
LPIN3	64900	genome.wustl.edu	37	20	39986087	39986087	+	Splice_Site	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:39986087T>C	ENST00000373257.3	+	16	2130	c.2039T>C	c.(2038-2040)cTa>cCa	p.L680P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	680	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AAAATCCAACTGTGAGTGCCT	0.607																																																	0													57.0	51.0	53.0					20																	39986087		2203	4300	6503	SO:0001630	splice_region_variant	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2039+1T>C	20.37:g.39986087T>C			B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.L680P	ENST00000373257.3	37	c.2039	CCDS33469.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.68|17.68	3.449174|3.449174	0.63178|0.63178	.|.	.|.	ENSG00000132793|ENSG00000132793	ENST00000373257;ENST00000373259|ENST00000445975	T|.	0.76186|.	-1.0|.	5.2|5.2	5.2|5.2	0.72013|0.72013	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);|.	0.087066|.	0.48767|.	D|.	0.000177|.	T|.	0.54549|.	0.1865|.	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.997;1.0|.	D;D|.	0.91635|.	0.976;0.999|.	T|.	0.52533|.	-0.8563|.	9|.	.|.	.|.	.|.	-6.7575|-6.7575	9.5737|9.5737	0.39445|0.39445	0.0:0.0789:0.0:0.9211|0.0:0.0789:0.0:0.9211	.|.	681;680|.	Q9BQK8-2;Q9BQK8|.	.;LPIN3_HUMAN|.	P|Q	680;313|170	ENSP00000362354:L680P|.	.|.	L|X	+|+	2|1	0|0	LPIN3|LPIN3	39419501|39419501	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	2.995000|2.995000	0.49441|0.49441	1.959000|1.959000	0.56917|0.56917	0.460000|0.460000	0.39030|0.39030	CTA|TAA	LPIN3	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000132793		0.607	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0.00	36	0	T	NM_022896	Missense_Mutation	39986087	+1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	C
LRFN3	79414	genome.wustl.edu	37	19	36431206	36431206	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36431206C>T	ENST00000588831.1	+	3	1933	c.879C>T	c.(877-879)tgC>tgT	p.C293C	LRFN3_ENST00000246529.3_Silent_p.C293C			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	293	LRRCT.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTTTGTCTGCGAGCCGCCCG	0.741																																																	0													8.0	10.0	10.0					19																	36431206		2031	4017	6048	SO:0001819	synonymous_variant	0			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.879C>T	19.37:g.36431206C>T			Q6UY10	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C293	ENST00000588831.1	37	c.879	CCDS12483.1	19																																																																																			LRFN3	-	smart_Cys-rich_flank_reg_C	ENSG00000126243		0.741	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN3	HGNC	protein_coding	OTTHUMT00000457403.2	-	0.00	9	0	C	NM_024509		36431206	+1	tier1	-	no_errors	ENST00000246529	ensembl	human	known	74_37	silent	44.44	10	8	SNP	0.982	T
LRIG1	26018	genome.wustl.edu	37	3	66433685	66433685	+	Silent	SNP	G	G	T	rs200213153		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:66433685G>T	ENST00000273261.3	-	15	2736	c.2212C>A	c.(2212-2214)Cgg>Agg	p.R738R	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Silent_p.R715R|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	738	Ig-like C2-type 3.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAGTGGTGCCGCTCAGTGAGG	0.622																																																	0													72.0	68.0	69.0					3																	66433685		2203	4300	6503	SO:0001819	synonymous_variant	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2212C>A	3.37:g.66433685G>T			Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R738	ENST00000273261.3	37	c.2212	CCDS33783.1	3																																																																																			LRIG1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000144749		0.622	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1		0.00	59	0	G	NM_015541		66433685	-1			no_errors	ENST00000273261	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.982	T
LRP1	4035	genome.wustl.edu	37	12	57602955	57602955	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:57602955C>T	ENST00000243077.3	+	79	12701	c.12235C>T	c.(12235-12237)Ccc>Tcc	p.P4079S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4079					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGCACGGACCCCATTGTGGC	0.612																																																	0													56.0	49.0	51.0					12																	57602955		2203	4300	6503	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12235C>T	12.37:g.57602955C>T	ENSP00000243077:p.Pro4079Ser		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P4079S	ENST00000243077.3	37	c.12235	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	9.599	1.128202	0.21041	.	.	ENSG00000123384	ENST00000243077	D	0.96073	-3.9	4.94	4.94	0.65067	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.172815	0.35585	N	0.003115	D	0.90154	0.6923	N	0.04508	-0.205	0.80722	D	1	P	0.43578	0.811	B	0.43838	0.433	D	0.91721	0.5389	10	0.48119	T	0.1	.	17.0928	0.86627	0.0:1.0:0.0:0.0	.	4079	Q07954	LRP1_HUMAN	S	4079	ENSP00000243077:P4079S	ENSP00000243077:P4079S	P	+	1	0	LRP1	55889222	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.657000	0.54474	2.584000	0.87258	0.462000	0.41574	CCC	LRP1	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000123384		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0.00	59	0	C	NM_002332		57602955	+1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	24.19	47	15	SNP	1.000	T
LRP11	84918	genome.wustl.edu	37	6	150141774	150141774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:150141774G>A	ENST00000239367.2	-	7	1419	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	LRP11_ENST00000546019.1_Nonsense_Mutation_p.R217*	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	472						integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AGTCGTAGTCGGCATGCAACC	0.468																																																	0													100.0	93.0	95.0					6																	150141774		2203	4300	6503	SO:0001587	stop_gained	0			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.1414C>T	6.37:g.150141774G>A	ENSP00000239367:p.Arg472*		Q5VYC0|Q96SN6	Nonsense_Mutation	SNP	pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom	p.R472*	ENST00000239367.2	37	c.1414	CCDS5220.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.594553	0.97692	.	.	ENSG00000120256	ENST00000239367;ENST00000546019	.	.	.	5.68	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.0894	14.4067	0.67088	0.0:0.0:0.5239:0.4761	.	.	.	.	X	472;217	.	ENSP00000239367:R472X	R	-	1	2	LRP11	150183467	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	4.156000	0.58138	0.712000	0.32039	-0.319000	0.08680	CGA	LRP11	-	NULL	ENSG00000120256		0.468	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP11	HGNC	protein_coding	OTTHUMT00000042664.1	-	0.00	54	0	G	NM_032832		150141774	-1	tier1	-	no_errors	ENST00000239367	ensembl	human	known	74_37	nonsense	19.44	29	7	SNP	1.000	A
LRP12	29967	genome.wustl.edu	37	8	105502332	105502332	+	3'UTR	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:105502332T>C	ENST00000276654.5	-	0	3257				LRP12_ENST00000424843.2_3'UTR|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CACATGATTGTATGTTAAACG	0.274																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.*569A>G	8.37:g.105502332T>C			A8K137|B4DRQ2	RNA	SNP	-	NULL	ENST00000276654.5	37	NULL	CCDS6303.1	8																																																																																			LRP12	-	-	ENSG00000147650		0.274	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0.00	38	0	T	NM_013437		105502332	-1	tier1	-	no_errors	ENST00000518375	ensembl	human	putative	74_37	rna	10.26	35	4	SNP	0.310	C
LRP12	29967	genome.wustl.edu	37	8	105502342	105502342	+	3'UTR	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:105502342G>A	ENST00000276654.5	-	0	3247				LRP12_ENST00000424843.2_3'UTR|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TATGTTAAACGTAAGAGAAAA	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.*559C>T	8.37:g.105502342G>A			A8K137|B4DRQ2	RNA	SNP	-	NULL	ENST00000276654.5	37	NULL	CCDS6303.1	8																																																																																			LRP12	-	-	ENSG00000147650		0.289	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0.00	38	0	G	NM_013437		105502342	-1	tier1	-	no_errors	ENST00000518375	ensembl	human	putative	74_37	rna	10.81	33	4	SNP	0.013	A
LRP12	29967	genome.wustl.edu	37	8	105502353	105502353	+	3'UTR	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:105502353A>C	ENST00000276654.5	-	0	3236				LRP12_ENST00000424843.2_3'UTR|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TAAGAGAAAAATTTTTAGACA	0.294																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.*548T>G	8.37:g.105502353A>C			A8K137|B4DRQ2	RNA	SNP	-	NULL	ENST00000276654.5	37	NULL	CCDS6303.1	8																																																																																			LRP12	-	-	ENSG00000147650		0.294	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0.00	37	0	A	NM_013437		105502353	-1	tier1	-	no_errors	ENST00000518375	ensembl	human	putative	74_37	rna	36.11	23	13	SNP	0.129	C
LRP12	29967	genome.wustl.edu	37	8	105502452	105502452	+	3'UTR	DEL	T	T	-	rs140959749	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:105502452delT	ENST00000276654.5	-	0	3137				LRP12_ENST00000424843.2_3'UTR|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGTATAAGGGTTTTTTTTTTG	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.*449A>-	8.37:g.105502452delT			A8K137|B4DRQ2	RNA	DEL	-	NULL	ENST00000276654.5	37	NULL	CCDS6303.1	8																																																																																			LRP12	-	-	ENSG00000147650		0.279	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1		0.00	53	0	T	NM_013437		105502452	-1	tier1		no_errors	ENST00000518375	ensembl	human	putative	74_37	rna	29.63	38	16	DEL	0.000	-
LRP12	29967	genome.wustl.edu	37	8	105510178	105510178	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:105510178G>T	ENST00000276654.5	-	5	710	c.602C>A	c.(601-603)gCc>gAc	p.A201D	LRP12_ENST00000424843.2_Missense_Mutation_p.A182D|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	201	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGCTTCTTTGGCACAGATCTC	0.433																																																	0													205.0	182.0	190.0					8																	105510178		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.602C>A	8.37:g.105510178G>T	ENSP00000276654:p.Ala201Asp		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.A182D	ENST00000276654.5	37	c.545	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	G	12.06	1.826052	0.32237	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.83591	-1.74;-1.68	5.38	3.54	0.40534	.	0.281816	0.39146	N	0.001442	T	0.69940	0.3167	N	0.25957	0.775	0.80722	D	1	P;B	0.35656	0.514;0.38	B;B	0.34138	0.176;0.085	T	0.63075	-0.6718	10	0.32370	T	0.25	-4.2766	8.4008	0.32586	0.1411:0.1287:0.7302:0.0	.	182;201	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	D	182;201	ENSP00000399148:A182D;ENSP00000276654:A201D	ENSP00000276654:A201D	A	-	2	0	LRP12	105579354	1.000000	0.71417	0.942000	0.38095	0.938000	0.57974	2.474000	0.45154	0.605000	0.29947	0.563000	0.77884	GCC	LRP12	-	smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000147650		0.433	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0.00	73	0	G	NM_013437		105510178	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	27.40	53	20	SNP	1.000	T
LRP12	29967	genome.wustl.edu	37	8	105601204	105601204	+	5'UTR	SNP	C	C	A	rs560767533	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:105601204C>A	ENST00000276654.5	-	0	30				RP11-127H5.1_ENST00000521923.1_5'Flank|LRP12_ENST00000424843.2_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			gccgacgccgccgccgccgcc	0.746													N|||	65	0.0129792	0.0136	0.0072	5008	,	,		5896	0.003		0.0338	False		,,,				2504	0.0051																0																																										SO:0001623	5_prime_UTR_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.-79G>T	8.37:g.105601204C>A			A8K137|B4DRQ2	RNA	SNP	-	NULL	ENST00000276654.5	37	NULL	CCDS6303.1	8																																																																																			LRP12	-	-	ENSG00000147650		0.746	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0.00	60	0	C	NM_013437		105601204	-1	tier1	-	no_errors	ENST00000520770	ensembl	human	known	74_37	rna	38.30	29	18	SNP	0.647	A
LRP1B	53353	genome.wustl.edu	37	2	141108458	141108458	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:141108458T>C	ENST00000389484.3	-	77	12771	c.11800A>G	c.(11800-11802)Atg>Gtg	p.M3934V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3934					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAATAATCATATCTCTTTGA	0.333										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													95.0	99.0	98.0					2																	141108458		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11800A>G	2.37:g.141108458T>C	ENSP00000374135:p.Met3934Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.M3934V	ENST00000389484.3	37	c.11800	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.30|10.30	1.313015|1.313015	0.23908|0.23908	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.90788	.|-2.73	5.48|5.48	4.33|4.33	0.51752|0.51752	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.296768	.|0.36234	.|N	.|0.002712	D|D	0.84826|0.84826	0.5558|0.5558	L|L	0.45137|0.45137	1.4|1.4	0.25049|0.25049	N|N	0.991146|0.991146	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.68473|0.68473	-0.5399|-0.5399	5|10	.|0.16896	.|T	.|0.51	.|.	10.7821|10.7821	0.46384|0.46384	0.0:0.0758:0.0:0.9242|0.0:0.0758:0.0:0.9242	.|.	.|3934	.|Q9NZR2	.|LRP1B_HUMAN	M|V	165|3934;3872	.|ENSP00000374135:M3934V	.|ENSP00000374135:M3934V	I|M	-|-	3|1	3|0	LRP1B|LRP1B	140824928|140824928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.811000|5.811000	0.69187|0.69187	1.031000|1.031000	0.39867|0.39867	0.533000|0.533000	0.62120|0.62120	ATA|ATG	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000168702		0.333	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	62	0	T	NM_018557		141108458	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	36.71	50	29	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141208184	141208184	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:141208184T>C	ENST00000389484.3	-	63	10981	c.10010A>G	c.(10009-10011)gAc>gGc	p.D3337G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3337	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCACGGTGTCACATTTCCA	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													127.0	124.0	125.0					2																	141208184		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10010A>G	2.37:g.141208184T>C	ENSP00000374135:p.Asp3337Gly		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D3337G	ENST00000389484.3	37	c.10010	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	32	5.171336	0.94807	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.98732	-5.1	5.51	5.51	0.81932	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.99464	4.58	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97587	1.0114	10	0.66056	D	0.02	.	15.9059	0.79430	0.0:0.0:0.0:1.0	.	3337	Q9NZR2	LRP1B_HUMAN	G	3337;3275	ENSP00000374135:D3337G	ENSP00000374135:D3337G	D	-	2	0	LRP1B	140924654	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.961000	0.87903	2.225000	0.72522	0.477000	0.44152	GAC	LRP1B	-	pfam_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	62	0	T	NM_018557		141208184	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	19.64	45	11	SNP	1.000	C
LRP2	4036	genome.wustl.edu	37	2	170115713	170115713	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:170115713C>T	ENST00000263816.3	-	17	2620	c.2335G>A	c.(2335-2337)Gca>Aca	p.A779T	LRP2_ENST00000443831.1_Missense_Mutation_p.A642T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	779					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTGTTAGCTGCGAGAATTTCT	0.333																																																	0													82.0	86.0	85.0					2																	170115713		2202	4300	6502	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2335G>A	2.37:g.170115713C>T	ENSP00000263816:p.Ala779Thr		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A779T	ENST00000263816.3	37	c.2335	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	8.186	0.794906	0.16327	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94457	-2.75;-3.43	5.77	2.1	0.27182	Six-bladed beta-propeller, TolB-like (1);	0.436617	0.28448	N	0.015320	T	0.80778	0.4688	N	0.01352	-0.895	0.24408	N	0.994671	B;B	0.19331	0.035;0.007	B;B	0.15484	0.013;0.005	T	0.70905	-0.4745	10	0.26408	T	0.33	.	8.6926	0.34275	0.0:0.332:0.0:0.668	.	642;779	E9PC35;P98164	.;LRP2_HUMAN	T	779;642	ENSP00000263816:A779T;ENSP00000409813:A642T	ENSP00000263816:A779T	A	-	1	0	LRP2	169823959	0.995000	0.38212	0.134000	0.22075	0.902000	0.53008	1.485000	0.35519	0.109000	0.17891	0.591000	0.81541	GCA	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.333	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0.00	19	0	C	NM_004525		170115713	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.964	T
LRP5	4041	genome.wustl.edu	37	11	68131293	68131293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:68131293G>A	ENST00000294304.7	+	4	871	c.765G>A	c.(763-765)tgG>tgA	p.W255*		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	255	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACAGACTGGCAGACCCGCT	0.637																																																	0			GRCh37	CM053973	LRP5	M							49.0	40.0	43.0					11																	68131293		2200	4294	6494	SO:0001587	stop_gained	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.765G>A	11.37:g.68131293G>A	ENSP00000294304:p.Trp255*		Q96TD6|Q9UES7|Q9UP66	Nonsense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.W255*	ENST00000294304.7	37	c.765	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.062281	0.97246	.	.	ENSG00000162337	ENST00000294304	.	.	.	3.78	3.78	0.43462	.	0.000000	0.47455	U	0.000228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1692	0.81790	0.0:0.0:1.0:0.0	.	.	.	.	X	255	.	ENSP00000294304:W255X	W	+	3	0	LRP5	67887869	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.362000	0.97126	2.133000	0.65898	0.455000	0.32223	TGG	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt	ENSG00000162337		0.637	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	-	0.00	95	0	G	NM_002335		68131293	+1	tier1	-	no_errors	ENST00000294304	ensembl	human	known	74_37	nonsense	9.09	60	6	SNP	1.000	A
LRPPRC	10128	genome.wustl.edu	37	2	44145165	44145165	+	Splice_Site	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:44145165delT	ENST00000260665.7	-	29	3204	c.3147delA	c.(3145-3147)aaa>aa	p.K1049fs		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1049					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGCTTGCCTTTTTTTTGGT	0.453																																																	0													91.0	89.0	90.0					2																	44145165		2203	4300	6503	SO:0001630	splice_region_variant	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3148+1A>-	2.37:g.44145165delT			A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Frame_Shift_Del	DEL	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.A1051fs	ENST00000260665.7	37	c.3147	CCDS33189.1	2																																																																																			LRPPRC	-	NULL	ENSG00000138095		0.453	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1		0.00	76	0	T	NM_133259	Frame_Shift_Del	44145165	-1	tier1		no_errors	ENST00000260665	ensembl	human	known	74_37	frame_shift_del	11.29	55	7	DEL	0.844	-
LRRC14	9684	genome.wustl.edu	37	8	145745261	145745261	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145745261T>C	ENST00000292524.1	+	2	298	c.152T>C	c.(151-153)gTa>gCa	p.V51A	RECQL4_ENST00000428558.2_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.V51A|RECQL4_ENST00000532237.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	51										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCGAGTTGGTACACACGTGG	0.632																																																	0													102.0	99.0	100.0					8																	145745261		2203	4300	6503	SO:0001583	missense	0			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.152T>C	8.37:g.145745261T>C	ENSP00000292524:p.Val51Ala		A8K0A8|D3DWM8	Missense_Mutation	SNP	NULL	p.V51A	ENST00000292524.1	37	c.152	CCDS6432.1	8	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075698	0.55646	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000530854;ENST00000525766	T;T;T;T;T	0.60672	1.27;4.04;4.04;0.21;0.17	4.42	4.42	0.53409	.	0.148976	0.44483	D	0.000458	T	0.75620	0.3874	M	0.83012	2.62	0.35839	D	0.825879	D	0.89917	1.0	D	0.76575	0.988	D	0.83801	0.0236	10	0.87932	D	0	.	11.6459	0.51261	0.0:0.0:0.0:1.0	.	51	Q15048	LRC14_HUMAN	A	51	ENSP00000436452:V51A;ENSP00000434768:V51A;ENSP00000292524:V51A;ENSP00000435985:V51A;ENSP00000434738:V51A	ENSP00000292524:V51A	V	+	2	0	LRRC14	145716069	0.999000	0.42202	0.983000	0.44433	0.730000	0.41778	3.164000	0.50770	1.862000	0.54008	0.379000	0.24179	GTA	LRRC14	-	NULL	ENSG00000160959		0.632	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC14	HGNC	protein_coding	OTTHUMT00000382494.1	-	0.00	84	0	T	NM_014665		145745261	+1	tier1	-	no_errors	ENST00000292524	ensembl	human	known	74_37	missense	12.26	93	13	SNP	0.998	C
LRRC24	441381	genome.wustl.edu	37	8	145747975	145747975	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145747975A>G	ENST00000529415.2	-	5	1543	c.1426T>C	c.(1426-1428)Tcc>Ccc	p.S476P	LRRC14_ENST00000528528.1_3'UTR|LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.S473P			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	476						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCGGCTTGGAGCGGTTGATG	0.706																																																	0																																										SO:0001583	missense	0			AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1426T>C	8.37:g.145747975A>G	ENSP00000434849:p.Ser476Pro			Missense_Mutation	SNP	pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S476P	ENST00000529415.2	37	c.1426	CCDS34969.1	8	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267605	0.59540	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.56776	0.57;0.44	4.92	3.69	0.42338	.	0.554792	0.18897	N	0.128159	T	0.46658	0.1404	N	0.19112	0.55	0.32213	N	0.576217	D;D	0.65815	0.995;0.991	P;P	0.55161	0.77;0.593	T	0.55909	-0.8066	10	0.66056	D	0.02	.	7.2387	0.26084	0.7055:0.0:0.0:0.2945	.	473;476	G3V1D8;Q50LG9	.;LRC24_HUMAN	P	476;473	ENSP00000434849:S476P;ENSP00000435653:S473P	ENSP00000434849:S476P	S	-	1	0	LRRC24	145718783	0.982000	0.34865	0.998000	0.56505	0.431000	0.31685	2.012000	0.40932	2.073000	0.62155	0.459000	0.35465	TCC	LRRC24	-	NULL	ENSG00000254402		0.706	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC24	HGNC	protein_coding	OTTHUMT00000382501.2	-	0.00	36	0	A	NM_001024678		145747975	-1	tier1	-	no_errors	ENST00000529415	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.964	G
LRRC37A4P	55073	genome.wustl.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																																	0																																												0			AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T				RNA	SNP	-	NULL	ENST00000579913.1	37	NULL		17																																																																																			LRRC37A4P	-	-	ENSG00000214425		0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	LRRC37A4P	HGNC	pseudogene	OTTHUMT00000445300.1		0.00	65	0	C	NR_002940		43587657	-1			no_errors	ENST00000579913	ensembl	human	known	74_37	rna	8.20	56	5	SNP	0.062	T
LRRC37A7P	100421589	genome.wustl.edu	37	18	29306351	29306351	+	RNA	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:29306351delG	ENST00000583900.1	+	0	2191									leucine rich repeat containing 37, member A7, pseudogene																		TGCTGGTTCAGGGGCTCCATG	0.498																																																	0																																												0					18q12.1	2013-05-14			ENSG00000265158	ENSG00000265158			43792	pseudogene	pseudogene							Standard	NG_026286		Approved				OTTHUMG00000179653		18.37:g.29306351delG				RNA	DEL	-	NULL	ENST00000583900.1	37	NULL		18																																																																																			LRRC37A7P	-	-	ENSG00000265158		0.498	LRRC37A7P-002	KNOWN	basic	processed_transcript	LRRC37A7P	HGNC	pseudogene	OTTHUMT00000447520.1		0.00	8	0	G	NG_026286		29306351	+1			no_errors	ENST00000583900	ensembl	human	known	74_37	rna	33.33	4	2	DEL	0.114	0
LRRC55	219527	genome.wustl.edu	37	11	56949426	56949426	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:56949426C>T	ENST00000497933.1	+	1	206	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CTTCCTGTGTCACAGACTCTC	0.587																																																	0													81.0	63.0	69.0					11																	56949426		2201	4296	6497	SO:0001583	missense	0				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.59C>T	11.37:g.56949426C>T	ENSP00000419542:p.Ser20Leu		A7E2U7|B2RN81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S20L	ENST00000497933.1	37	c.59	CCDS31539.1	11	.	.	.	.	.	.	.	.	.	.	C	7.856	0.724975	0.15439	.	.	ENSG00000183908	ENST00000497933	T	0.61274	0.12	5.51	4.59	0.56863	.	3.129100	0.01158	N	0.006573	T	0.63379	0.2506	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.55541	-0.8125	7	0.56958	D	0.05	.	12.6695	0.56860	0.0:0.8341:0.1659:0.0	.	.	.	.	L	20	ENSP00000419542:S20L	ENSP00000419542:S20L	S	+	2	0	LRRC55	56706002	0.000000	0.05858	0.003000	0.11579	0.091000	0.18340	-0.098000	0.11024	1.442000	0.47568	0.655000	0.94253	TCA	LRRC55	-	NULL	ENSG00000183908		0.587	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC55	HGNC	protein_coding	OTTHUMT00000354503.2	-	0.00	89	0	C	NM_001005210		56949426	+1	tier1	-	no_errors	ENST00000497933	ensembl	human	known	74_37	missense	14.08	61	10	SNP	0.017	T
LRRC58	116064	genome.wustl.edu	37	3	120050241	120050241	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:120050241A>T	ENST00000295628.3	-	4	1017	c.922T>A	c.(922-924)Tgc>Agc	p.C308S		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	308										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		CTGACACAGCAGTCAAAGTAG	0.408																																																	0													56.0	56.0	56.0					3																	120050241		1876	4103	5979	SO:0001583	missense	0			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.922T>A	3.37:g.120050241A>T	ENSP00000295628:p.Cys308Ser			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.C308S	ENST00000295628.3	37	c.922	CCDS46892.1	3	.	.	.	.	.	.	.	.	.	.	A	5.392	0.257518	0.10239	.	.	ENSG00000163428	ENST00000295628	T	0.37584	1.19	5.61	5.61	0.85477	.	0.196843	0.56097	D	0.000037	T	0.12561	0.0305	N	0.01705	-0.755	0.40988	D	0.984836	B	0.09022	0.002	B	0.04013	0.001	T	0.18461	-1.0336	10	0.02654	T	1	-15.2779	10.6272	0.45514	0.8476:0.0:0.0:0.1524	.	308	Q96CX6	LRC58_HUMAN	S	308	ENSP00000295628:C308S	ENSP00000295628:C308S	C	-	1	0	LRRC58	121532931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.737000	0.68606	2.130000	0.65690	0.533000	0.62120	TGC	LRRC58	-	NULL	ENSG00000163428		0.408	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC58	HGNC	protein_coding	OTTHUMT00000355142.1	-	0.00	35	0	A	XM_057296		120050241	-1	tier1	-	no_errors	ENST00000295628	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	T
LRRC7	57554	genome.wustl.edu	37	1	70225992	70225992	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:70225992G>A	ENST00000035383.5	+	1	135	c.105G>A	c.(103-105)caG>caA	p.Q35Q	LRRC7_ENST00000370958.1_Silent_p.Q73Q|LRRC7_ENST00000310961.5_Silent_p.Q40Q|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	35						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCAGTCTTCAGCAGGTGCCAA	0.448																																																	0													78.0	77.0	78.0					1																	70225992		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.105G>A	1.37:g.70225992G>A			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Q35	ENST00000035383.5	37	c.105	CCDS645.1	1																																																																																			LRRC7	-	NULL	ENSG00000033122		0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0.00	35	0	G	NM_020794		70225992	+1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	silent	40.54	22	15	SNP	1.000	A
LRRC8D	55144	genome.wustl.edu	37	1	90400757	90400757	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:90400757A>G	ENST00000337338.5	+	3	2537	c.2130A>G	c.(2128-2130)tcA>tcG	p.S710S	LRRC8D_ENST00000394593.3_Silent_p.S710S	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	710					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ACTTGGAGTCACTTTATTTCT	0.348																																																	0													68.0	73.0	71.0					1																	90400757		2203	4299	6502	SO:0001819	synonymous_variant	0			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2130A>G	1.37:g.90400757A>G			D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S710	ENST00000337338.5	37	c.2130	CCDS726.1	1																																																																																			LRRC8D	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000171492		0.348	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	-	0.00	29	0	A	NM_018103		90400757	+1	tier1	-	no_errors	ENST00000337338	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.451	G
LRRC8E	80131	genome.wustl.edu	37	19	7964449	7964449	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:7964449C>T	ENST00000306708.6	+	3	1143	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	348					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CCGTTCCGTGCGGGAGGAGAC	0.547																																																	0													84.0	68.0	73.0					19																	7964449		2203	4300	6503	SO:0001583	missense	0				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1042C>T	19.37:g.7964449C>T	ENSP00000306524:p.Arg348Trp		B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R348W	ENST00000306708.6	37	c.1042	CCDS12189.1	19	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022324	0.54683	.	.	ENSG00000171017	ENST00000306708	T	0.30981	1.51	4.89	2.63	0.31362	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.73598	2.24	0.51767	D	0.999934	D	0.89917	1.0	D	0.97110	1.0	T	0.55854	-0.8075	10	0.87932	D	0	.	10.2432	0.43326	0.4853:0.5147:0.0:0.0	.	348	Q6NSJ5	LRC8E_HUMAN	W	348	ENSP00000306524:R348W	ENSP00000306524:R348W	R	+	1	2	LRRC8E	7870449	0.996000	0.38824	0.977000	0.42913	0.993000	0.82548	2.937000	0.48979	1.279000	0.44446	0.555000	0.69702	CGG	LRRC8E	-	NULL	ENSG00000171017		0.547	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	-	0.00	28	0	C	NM_025061		7964449	+1	tier1	-	no_errors	ENST00000306708	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.978	T
LRRC9	341883	genome.wustl.edu	37	14	60474815	60474815	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:60474815A>G	ENST00000445360.1	+	23	3273	c.3069A>G	c.(3067-3069)ttA>ttG	p.L1023L	RP11-16B13.1_ENST00000554123.1_RNA|RP11-16B13.1_ENST00000555432.1_RNA			Q6ZRR7	LRRC9_HUMAN	leucine rich repeat containing 9	1023																	CCTAGGGTTTATGCAACTTGG	0.308																																																	0																																										SO:0001819	synonymous_variant	0			AK128037		14q23.1	2013-01-29	2003-11-19		ENSG00000131951	ENSG00000131951			19848	other	unknown			"""leucine-rich repeat-containing 9"""				Standard	NR_075071		Approved	FLJ46156	uc001xep.1	Q6ZRR7	OTTHUMG00000028948	ENST00000445360.1:c.3069A>G	14.37:g.60474815A>G				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L1023	ENST00000445360.1	37	c.3069		14																																																																																			LRRC9	-	NULL	ENSG00000131951		0.308	LRRC9-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC9	HGNC	protein_coding	OTTHUMT00000072281.3	-	0.00	69	0	A			60474815	+1	tier1	-	no_errors	ENST00000254271	ensembl	human	known	74_37	silent	13.89	62	10	SNP	0.977	G
LRRK2	120892	genome.wustl.edu	37	12	40740637	40740637	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:40740637T>C	ENST00000298910.7	+	42	6250	c.6192T>C	c.(6190-6192)taT>taC	p.Y2064Y		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2064	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TACTACTCTATGACATTTTGA	0.358																																																	0													94.0	88.0	90.0					12																	40740637		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6192T>C	12.37:g.40740637T>C			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.Y2064	ENST00000298910.7	37	c.6192	CCDS31774.1	12																																																																																			LRRK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000188906		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0.00	54	0	T	XM_058513		40740637	+1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	silent	8.70	63	6	SNP	1.000	C
LRRIQ1	84125	genome.wustl.edu	37	12	85450889	85450889	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:85450889G>A	ENST00000393217.2	+	8	2379	c.2318G>A	c.(2317-2319)tGc>tAc	p.C773Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	773										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTGTGAAATGCCCAGCCAAC	0.358																																																	0													110.0	126.0	120.0					12																	85450889		2203	4300	6503	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2318G>A	12.37:g.85450889G>A	ENSP00000376910:p.Cys773Tyr		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.C773Y	ENST00000393217.2	37	c.2318	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	4.700	0.130254	0.08981	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.52057	0.68	5.56	2.55	0.30701	.	0.664592	0.14292	N	0.328827	T	0.39279	0.1072	L	0.52364	1.645	0.31946	N	0.610235	B;B	0.33964	0.434;0.325	B;B	0.35114	0.196;0.021	T	0.52102	-0.8620	10	0.62326	D	0.03	.	5.4105	0.16346	0.0727:0.2475:0.5387:0.1411	.	773;748	Q96JM4;C9JI57	LRIQ1_HUMAN;.	Y	773;748;773	ENSP00000376910:C773Y	ENSP00000256007:C773Y	C	+	2	0	LRRIQ1	83975020	0.857000	0.29778	0.950000	0.38849	0.172000	0.22775	1.084000	0.30828	1.306000	0.44926	0.591000	0.81541	TGC	LRRIQ1	-	NULL	ENSG00000133640		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0.00	66	0	G	NM_032165		85450889	+1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	16.13	52	10	SNP	0.982	A
LRTM1	57408	genome.wustl.edu	37	3	54958936	54958936	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:54958936A>G	ENST00000273286.5	-	2	476	c.314T>C	c.(313-315)cTa>cCa	p.L105P	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.L29P	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	105						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATTCTGGGTTAGATTTAAAAC	0.473																																																	0													56.0	57.0	57.0					3																	54958936		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.314T>C	3.37:g.54958936A>G	ENSP00000273286:p.Leu105Pro		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L105P	ENST00000273286.5	37	c.314	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669781	0.47677	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.77489	-1.1;-1.1	5.74	5.74	0.90152	.	0.144833	0.48286	D	0.000183	D	0.93109	0.7806	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95819	0.8848	10	0.87932	D	0	.	16.0384	0.80648	1.0:0.0:0.0:0.0	.	105	Q9HBL6	LRTM1_HUMAN	P	105;29	ENSP00000273286:L105P;ENSP00000419772:L29P	ENSP00000273286:L105P	L	-	2	0	LRTM1	54933976	1.000000	0.71417	0.466000	0.27168	0.063000	0.16089	8.611000	0.90905	2.185000	0.69588	0.533000	0.62120	CTA	LRTM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144771		0.473	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0.00	43	0	A	NM_020678		54958936	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.996	G
LSM1	27257	genome.wustl.edu	37	8	38021014	38021014	+	3'UTR	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:38021014A>T	ENST00000311351.4	-	0	971				RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_3'UTR|RP11-90P5.7_ENST00000521915.1_RNA	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					TTTGTTATTAAAAAAAAAACC	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.*174T>A	8.37:g.38021014A>T			B2R5E6	RNA	SNP	-	NULL	ENST00000311351.4	37	NULL	CCDS6103.1	8																																																																																			LSM1	-	-	ENSG00000175324		0.328	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM1	HGNC	protein_coding	OTTHUMT00000376965.1	-	0.00	32	0	A	NM_014462		38021014	-1	tier1	-	no_errors	ENST00000520286	ensembl	human	known	74_37	rna	14.29	36	6	SNP	0.000	T
LSR	51599	genome.wustl.edu	37	19	35757844	35757845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:35757844_35757845insC	ENST00000361790.3	+	8	1421_1422	c.1262_1263insC	c.(1261-1266)ggccccfs	p.GP421fs	LSR_ENST00000427250.1_Frame_Shift_Ins_p.GP265fs|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000354900.3_Frame_Shift_Ins_p.GP402fs|LSR_ENST00000360798.3_Frame_Shift_Ins_p.GP353fs|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000347609.4_Frame_Shift_Ins_p.GP363fs|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000602122.1_Frame_Shift_Ins_p.GP401fs	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	421					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCTCGACCTGGCCCCCCCAGTG	0.624																																																	0									,,	3,4259		0,3,2128					,,	3.3	0.0			31	10,8240		0,10,4115	no	frameshift,frameshift,frameshift	LSR	NM_205835.2,NM_205834.2,NM_015925.5	,,	0,13,6243	A1A1,A1R,RR		0.1212,0.0704,0.1039	,,	,,		13,12499				SO:0001589	frameshift_variant	0			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1269dupC	19.37:g.35757851_35757851dupC	ENSP00000354575:p.Gly421fs		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Frame_Shift_Ins	INS	pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom	p.S424fs	ENST00000361790.3	37	c.1262_1263	CCDS12450.1	19																																																																																			LSR	-	NULL	ENSG00000105699		0.624	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LSR	HGNC	protein_coding	OTTHUMT00000465513.2		0.00	46	0	-	NM_015925		35757845	+1	tier1		no_errors	ENST00000361790	ensembl	human	known	74_37	frame_shift_ins	15.62	27	5	INS	0.645:0.001	C
LTBP3	4054	genome.wustl.edu	37	11	65320669	65320669	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:65320669C>T	ENST00000301873.5	-	5	1297	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	LTBP3_ENST00000322147.4_Silent_p.Q343Q|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	343					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCTTGTAGCCCTGGGGACAGT	0.637																																																	0													82.0	76.0	78.0					11																	65320669		2201	4297	6498	SO:0001819	synonymous_variant	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1029G>A	11.37:g.65320669C>T			O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.Q343	ENST00000301873.5	37	c.1029	CCDS44647.1	11																																																																																			LTBP3	-	superfamily_TB_dom	ENSG00000168056		0.637	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	-	0.00	61	0	C	NM_021070		65320669	-1	tier1	-	no_errors	ENST00000301873	ensembl	human	known	74_37	silent	13.11	53	8	SNP	1.000	T
LTN1	26046	genome.wustl.edu	37	21	30338185	30338185	+	Splice_Site	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:30338185A>G	ENST00000361371.5	-	11	2243		c.e11+1		LTN1_ENST00000389194.2_Splice_Site|LTN1_ENST00000389195.2_Splice_Site			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1						protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCCCTAAGATACCTTTTCAAT	0.284																																																	0													16.0	17.0	16.0					21																	30338185		2163	4258	6421	SO:0001630	splice_region_variant	0			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2163+1T>C	21.37:g.30338185A>G			A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Splice_Site	SNP	-	e11+2	ENST00000361371.5	37	c.2301+2		21	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464019	0.63513	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8321	0.63386	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTN1	29260056	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	7.148000	0.77389	1.994000	0.58287	0.374000	0.22700	.	LTN1	-	-	ENSG00000198862		0.284	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	-	0.00	206	0	A	NM_015565	Intron	30338185	-1	tier1	-	no_errors	ENST00000389194	ensembl	human	known	74_37	splice_site	7.77	190	16	SNP	1.000	G
LTN1	26046	genome.wustl.edu	37	21	30357050	30357050	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:30357050G>T	ENST00000361371.5	-	4	618	c.539C>A	c.(538-540)cCt>cAt	p.P180H	LTN1_ENST00000389194.2_Missense_Mutation_p.P226H|LTN1_ENST00000389195.2_Missense_Mutation_p.P226H			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	180					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TATGGCTTCAGGTTGCTTGCT	0.363																																																	0													95.0	90.0	92.0					21																	30357050		2203	4300	6503	SO:0001583	missense	0			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.539C>A	21.37:g.30357050G>T	ENSP00000354977:p.Pro180His		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.P226H	ENST00000361371.5	37	c.677		21	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657998	0.88154	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.68903	2.24;2.24;-0.36	5.14	5.14	0.70334	Armadillo-like helical (1);Armadillo-type fold (1);	0.131866	0.51477	D	0.000082	T	0.71626	0.3362	L	0.28274	0.84	0.58432	D	0.999999	D	0.76494	0.999	D	0.63488	0.915	T	0.72054	-0.4406	10	0.44086	T	0.13	.	18.8049	0.92032	0.0:0.0:1.0:0.0	.	180	O94822	LTN1_HUMAN	H	226;180;182;226	ENSP00000373846:P226H;ENSP00000354977:P180H;ENSP00000373847:P226H	ENSP00000354977:P180H	P	-	2	0	LTN1	29278921	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.263000	0.95617	2.690000	0.91761	0.460000	0.39030	CCT	LTN1	-	superfamily_ARM-type_fold	ENSG00000198862		0.363	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1		0.00	32	0	G	NM_015565		30357050	-1			no_errors	ENST00000389194	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.997	T
LUZP1	7798	genome.wustl.edu	37	1	23418182	23418182	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:23418182G>A	ENST00000302291.4	-	4	3374	c.2573C>T	c.(2572-2574)gCg>gTg	p.A858V	LUZP1_ENST00000314174.5_Missense_Mutation_p.A858V|LUZP1_ENST00000418342.1_Missense_Mutation_p.A858V|LUZP1_ENST00000374623.3_Missense_Mutation_p.A858V			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	858					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CATTCTCTCCGCTTCTGCAAG	0.537																																																	0													100.0	97.0	98.0					1																	23418182		2203	4300	6503	SO:0001583	missense	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2573C>T	1.37:g.23418182G>A	ENSP00000303758:p.Ala858Val		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	NULL	p.A858V	ENST00000302291.4	37	c.2573	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598691	0.46318	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15718	2.61;2.61;2.61;2.4	5.28	4.36	0.52297	.	0.440276	0.19200	N	0.120202	T	0.18882	0.0453	L	0.57536	1.79	0.22531	N	0.999014	B;B	0.19706	0.038;0.038	B;B	0.12156	0.007;0.007	T	0.13176	-1.0519	10	0.56958	D	0.05	.	11.0831	0.48072	0.0858:0.0:0.9142:0.0	.	858;858	Q86V48-2;Q86V48	.;LUZP1_HUMAN	V	858	ENSP00000393460:A858V;ENSP00000363752:A858V;ENSP00000303758:A858V;ENSP00000313705:A858V	ENSP00000303758:A858V	A	-	2	0	LUZP1	23290769	0.002000	0.14202	0.018000	0.16275	0.854000	0.48673	1.150000	0.31639	1.239000	0.43787	0.485000	0.47835	GCG	LUZP1	-	NULL	ENSG00000169641		0.537	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	-	0.00	35	0	G	NM_033631		23418182	-1	tier1	-	no_errors	ENST00000302291	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.637	A
LYL1	4066	genome.wustl.edu	37	19	13211729	13211729	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:13211729G>A	ENST00000264824.4	-	2	617	c.257C>T	c.(256-258)cCg>cTg	p.P86L		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	86					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			TTGCAGCAGCGGGGGCCGCAG	0.682			T	TRB@	T-ALL																																			Dom	yes		19	19p13.2-p13.1	4066	lymphoblastic leukemia derived sequence 1		L	0													11.0	14.0	13.0					19																	13211729		2128	4161	6289	SO:0001583	missense	0				CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"""Basic helix-loop-helix proteins"""	6734	protein-coding gene	gene with protein product		151440	"""lymphoblastic leukemia derived sequence 1"""			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.257C>T	19.37:g.13211729G>A	ENSP00000264824:p.Pro86Leu		O76102	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P86L	ENST00000264824.4	37	c.257	CCDS12292.1	19	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643200	0.29246	.	.	ENSG00000104903	ENST00000264824	D	0.97620	-4.46	4.67	3.63	0.41609	.	0.512108	0.17108	N	0.186704	D	0.92776	0.7703	L	0.29908	0.895	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	D	0.85884	0.1424	10	0.46703	T	0.11	-6.2484	8.3289	0.32173	0.1771:0.0:0.8229:0.0	.	86	P12980	LYL1_HUMAN	L	86	ENSP00000264824:P86L	ENSP00000264824:P86L	P	-	2	0	LYL1	13072729	0.998000	0.40836	0.228000	0.23943	0.460000	0.32559	3.035000	0.49759	2.139000	0.66308	0.555000	0.69702	CCG	LYL1	-	NULL	ENSG00000104903		0.682	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYL1	HGNC	protein_coding	OTTHUMT00000452827.1	-	0.00	57	0	G	NM_005583		13211729	-1	tier1	-	no_errors	ENST00000264824	ensembl	human	known	74_37	missense	12.07	51	7	SNP	0.171	A
LYST	1130	genome.wustl.edu	37	1	235993390	235993390	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:235993390delT	ENST00000389794.3	-	3	367				LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Intron			Q99698	LYST_HUMAN	lysosomal trafficking regulator						blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATAGGTCCACTTTTTTTTTAG	0.289																																																	0																																										SO:0001627	intron_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.192+135A>-	1.37:g.235993390delT			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	RNA	DEL	-	NULL	ENST00000389794.3	37	NULL	CCDS31062.1	1																																																																																			LYST	-	-	ENSG00000143669		0.289	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5		0.00	9	0	T			235993390	-1	tier1		no_errors	ENST00000468626	ensembl	human	known	74_37	rna	33.33	12	6	DEL	0.005	-
LZTR1	8216	genome.wustl.edu	37	22	21348525	21348525	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:21348525C>A	ENST00000215739.8	+	14	1941	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.L509I	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	528	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CATGCAGTTCCTCTACACCGA	0.697																																																	0													17.0	18.0	18.0					22																	21348525		2197	4296	6493	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1582C>A	22.37:g.21348525C>A	ENSP00000215739:p.Leu528Ile		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L528I	ENST00000215739.8	37	c.1582	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239900	0.22711	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.70516	-0.49;-0.49	4.63	4.63	0.57726	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	N	0.16233	0.39	0.80722	D	1	P;B;B;P	0.46784	0.733;0.178;0.4;0.884	B;B;B;B	0.43658	0.426;0.062;0.228;0.41	T	0.56757	-0.7926	10	0.02654	T	1	-39.929	15.0237	0.71650	0.0:1.0:0.0:0.0	.	509;487;528;487	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	I	487;528;509	ENSP00000215739:L528I;ENSP00000374006:L509I	ENSP00000215739:L528I	L	+	1	0	LZTR1	19678525	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	4.809000	0.62591	2.391000	0.81399	0.462000	0.41574	CTC	LZTR1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000099949		0.697	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0.00	82	0	C	NM_006767		21348525	+1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	26.32	56	20	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39798688	39798688	+	Missense_Mutation	SNP	C	C	T	rs367548192		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:39798688C>T	ENST00000372915.3	+	36	6530	c.6443C>T	c.(6442-6444)cCg>cTg	p.P2148L	MACF1_ENST00000289893.4_Missense_Mutation_p.P583L|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2180L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.P2143L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2148					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGGTGTGCCGTTGGTGGTT	0.463																																																	0								C	,LEU/PRO	0,4406		0,0,2203	60.0	58.0	59.0		,1748	2.2	0.0	1		59	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	MACF1	NM_012090.4,NM_033044.3	,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,583/5939	39798688	1,13005	2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6443C>T	1.37:g.39798688C>T	ENSP00000362006:p.Pro2148Leu		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.P2180L	ENST00000372915.3	37	c.6539		1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.626213	0.00820	0.0	1.16E-4	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.61392	0.11;1.19	5.61	2.22	0.28083	.	2.005900	0.01961	N	0.043347	T	0.33585	0.0868	N	0.03608	-0.345	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.29427	-1.0012	10	0.59425	D	0.04	.	1.1114	0.01705	0.3726:0.3186:0.1227:0.1861	.	2148	Q9UPN3	MACF1_HUMAN	L	2148;583	ENSP00000362006:P2148L;ENSP00000289893:P583L	ENSP00000289893:P583L	P	+	2	0	MACF1	39571275	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.612000	0.05616	0.170000	0.19704	-0.444000	0.05651	CCG	MACF1	-	superfamily_RNaseH-like_dom	ENSG00000127603		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0.00	23	0	C	NM_033044		39798688	+1	tier1	-	no_errors	ENST00000567887	ensembl	human	putative	74_37	missense	29.41	12	5	SNP	0.000	T
MADD	8567	genome.wustl.edu	37	11	47306718	47306718	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:47306718G>A	ENST00000311027.5	+	13	2549	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	MADD_ENST00000406482.1_Intron|MADD_ENST00000349238.3_Missense_Mutation_p.R795Q|MADD_ENST00000402799.1_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000402192.2_Missense_Mutation_p.R795Q|MADD_ENST00000395336.3_Missense_Mutation_p.R795Q|MADD_ENST00000342922.4_Missense_Mutation_p.R795Q	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TACACTCCCCGATTCAGCCAA	0.547																																																	0													55.0	54.0	54.0					11																	47306718		2201	4298	6499	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2384G>A	11.37:g.47306718G>A	ENSP00000310933:p.Arg795Gln			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R795Q	ENST00000311027.5	37	c.2384	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803054	0.70682	.	.	ENSG00000110514	ENST00000342922;ENST00000349238;ENST00000311027;ENST00000395336;ENST00000402192	T;T;T;T;T	0.06142	3.34;3.35;3.34;3.34;3.34	6.17	3.32	0.38043	.	0.148903	0.47852	N	0.000219	T	0.04907	0.0132	L	0.29908	0.895	0.80722	D	1	B;P;B;P	0.37525	0.337;0.482;0.227;0.598	B;B;B;B	0.37047	0.235;0.189;0.092;0.24	T	0.50583	-0.8811	10	0.38643	T	0.18	-1.059	6.206	0.20604	0.2:0.0:0.6689:0.1311	.	795;795;795;795	Q8WXG6-7;Q8WXG6-2;Q8WXG6;Q8WXG6-3	.;.;MADD_HUMAN;.	Q	795	ENSP00000343902:R795Q;ENSP00000304505:R795Q;ENSP00000310933:R795Q;ENSP00000378745:R795Q;ENSP00000384287:R795Q	ENSP00000310933:R795Q	R	+	2	0	MADD	47263294	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.768000	0.55295	0.488000	0.27723	0.655000	0.94253	CGA	MADD	-	NULL	ENSG00000110514		0.547	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1		0.00	39	0	G			47306718	+1			no_errors	ENST00000311027	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A
MADD	8567	genome.wustl.edu	37	11	47348351	47348351	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:47348351G>T	ENST00000311027.5	+	34	4950	c.4785G>T	c.(4783-4785)gaG>gaT	p.E1595D	MADD_ENST00000407859.3_Missense_Mutation_p.E1513D|MADD_ENST00000406482.1_Intron|MADD_ENST00000349238.3_Missense_Mutation_p.E1556D|MADD_ENST00000402799.1_Missense_Mutation_p.E1493D|MADD_ENST00000395344.3_Missense_Mutation_p.E1489D|MADD_ENST00000402192.2_Missense_Mutation_p.E1535D|MADD_ENST00000395336.3_Intron|MADD_ENST00000342922.4_Missense_Mutation_p.E1536D	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTGTCCTGGAGGAATTTGGTA	0.498																																																	0													126.0	125.0	125.0					11																	47348351		2201	4298	6499	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4785G>T	11.37:g.47348351G>T	ENSP00000310933:p.Glu1595Asp			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E1595D	ENST00000311027.5	37	c.4785	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706234	0.68615	.	.	ENSG00000110514	ENST00000342922;ENST00000402799;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000402192	T;T;T;T;T;T;T	0.08370	3.24;3.1;3.22;3.21;3.11;3.12;3.24	5.84	4.92	0.64577	.	0.092622	0.85682	D	0.000000	T	0.17492	0.0420	L	0.33339	1.005	0.80722	D	1	B;B;P;P;D;P;P	0.67145	0.006;0.006;0.487;0.891;0.996;0.872;0.649	B;B;B;P;D;B;B	0.76071	0.004;0.007;0.203;0.482;0.987;0.289;0.398	T	0.01202	-1.1420	10	0.51188	T	0.08	-23.251	11.1971	0.48719	0.1486:0.0:0.8514:0.0	.	1489;1489;1493;1556;1513;1595;1536	B5MEE5;A8K8S7;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;MADD_HUMAN;.	D	1536;1493;1556;1595;1513;1489;1535	ENSP00000343902:E1536D;ENSP00000385585:E1493D;ENSP00000304505:E1556D;ENSP00000310933:E1595D;ENSP00000384204:E1513D;ENSP00000378753:E1489D;ENSP00000384287:E1535D	ENSP00000310933:E1595D	E	+	3	2	MADD	47304927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.214000	0.65236	1.450000	0.47717	0.561000	0.74099	GAG	MADD	-	NULL	ENSG00000110514		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	-	0.00	64	0	G			47348351	+1	tier1	-	no_errors	ENST00000311027	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	T
MAGEE1	57692	genome.wustl.edu	37	X	75650001	75650001	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:75650001C>A	ENST00000361470.2	+	1	1956	c.1678C>A	c.(1678-1680)Ctg>Atg	p.L560M		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	560	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTACATTCTGTTAAACAA	0.483																																																	0													34.0	30.0	32.0					X																	75650001		2203	4300	6503	SO:0001583	missense	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1678C>A	X.37:g.75650001C>A	ENSP00000354912:p.Leu560Met		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.L560M	ENST00000361470.2	37	c.1678	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	C	4.212	0.038202	0.08148	.	.	ENSG00000198934	ENST00000361470	T	0.16196	2.36	2.34	1.46	0.22682	.	.	.	.	.	T	0.37489	0.1005	M	0.81802	2.56	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11131	-1.0600	9	0.87932	D	0	.	4.3531	0.11165	0.0:0.7943:0.0:0.2057	.	560	Q9HCI5	MAGE1_HUMAN	M	560	ENSP00000354912:L560M	ENSP00000354912:L560M	L	+	1	2	MAGEE1	75566405	0.999000	0.42202	0.023000	0.16930	0.003000	0.03518	0.913000	0.28611	0.403000	0.25479	0.594000	0.82650	CTG	MAGEE1	-	pfam_MAGE,pfscan_MAGE	ENSG00000198934		0.483	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	-	0.00	41	0	C	NM_020932		75650001	+1	tier1	-	no_errors	ENST00000361470	ensembl	human	known	74_37	missense	40.00	18	12	SNP	0.019	A
MAGEL2	54551	genome.wustl.edu	37	15	23890893	23890894	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:23890893_23890894insG	ENST00000532292.1	-	1	281_282	c.187_188insC	c.(187-189)cagfs	p.Q63fs		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTGGGCCTGCTGGGGGGGTAGC	0.703																																																	0																																										SO:0001589	frameshift_variant	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.188dupC	15.37:g.23890900_23890900dupG	ENSP00000433433:p.Gln63fs			Frame_Shift_Ins	INS	pfam_MAGE,pfscan_MAGE	p.Q63fs	ENST00000532292.1	37	c.188_187		15																																																																																			MAGEL2	-	NULL	ENSG00000254585		0.703	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2		0.00	26	0	-	NM_019066		23890894	-1	tier1		no_errors	ENST00000532292	ensembl	human	known	74_37	frame_shift_ins	35.00	13	7	INS	0.993:0.990	G
MAGEL2	54551	genome.wustl.edu	37	15	23891049	23891049	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:23891049G>A	ENST00000532292.1	-	1	126	c.32C>T	c.(31-33)gCg>gTg	p.A11V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCAGGCCAGCGCCTGTGTCTG	0.662																																																	0													4.0	5.0	5.0					15																	23891049		1524	3354	4878	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.32C>T	15.37:g.23891049G>A	ENSP00000433433:p.Ala11Val			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.A11V	ENST00000532292.1	37	c.32		15	.	.	.	.	.	.	.	.	.	.	g	7.823	0.718222	0.15372	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.13	0.0132	0.14094	.	.	.	.	.	T	0.26521	0.0648	L	0.40543	1.245	0.09310	N	1	.	.	.	.	.	.	T	0.25537	-1.0129	5	.	.	.	.	2.7	0.05145	0.2583:0.0:0.5177:0.224	.	.	.	.	C	43	.	.	R	-	1	0	MAGEL2	21442142	0.000000	0.05858	0.055000	0.19348	0.305000	0.27757	-0.021000	0.12504	0.011000	0.14865	0.197000	0.17608	CGC	MAGEL2	-	NULL	ENSG00000254585		0.662	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0.00	73	0	G	NM_019066		23891049	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	6.67	84	6	SNP	0.050	A
MAGI2	9863	genome.wustl.edu	37	7	77814972	77814972	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:77814972C>A	ENST00000354212.4	-	13	2538	c.2285G>T	c.(2284-2286)aGg>aTg	p.R762M	MAGI2_ENST00000419488.1_Intron|MAGI2_ENST00000522391.1_Missense_Mutation_p.R762M	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	762					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AAAACTGGTCCTGGGTGGCAC	0.353																																																	0													113.0	111.0	112.0					7																	77814972		2203	4300	6503	SO:0001583	missense	0			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2285G>T	7.37:g.77814972C>A	ENSP00000346151:p.Arg762Met		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.R762M	ENST00000354212.4	37	c.2285	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298289	0.81025	.	.	ENSG00000187391	ENST00000354212;ENST00000536298;ENST00000522391	T;T	0.38240	1.15;1.15	6.02	6.02	0.97574	PDZ/DHR/GLGF (1);	0.000000	0.40728	U	0.001037	T	0.58694	0.2140	L	0.55481	1.735	0.80722	D	1	P;D	0.67145	0.718;0.996	B;D	0.74023	0.235;0.982	T	0.54938	-0.8218	10	0.59425	D	0.04	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	762;762	B7Z4H4;Q86UL8	.;MAGI2_HUMAN	M	762	ENSP00000346151:R762M;ENSP00000428389:R762M	ENSP00000346151:R762M	R	-	2	0	MAGI2	77652908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.850000	0.98022	0.650000	0.86243	AGG	MAGI2	-	superfamily_PDZ	ENSG00000187391		0.353	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	-	0.00	70	0	C	NM_012301		77814972	-1	tier1	-	no_errors	ENST00000354212	ensembl	human	known	74_37	missense	29.31	41	17	SNP	1.000	A
MALAT1	378938	genome.wustl.edu	37	11	65270091	65270091	+	lincRNA	DEL	T	T	-	rs3842272	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:65270091delT	ENST00000534336.1	+	0	4859					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GAGGGGAAACTTTTTTTTTTT	0.373													|||unknown(HR)	597	0.119209	0.1641	0.0807	5008	,	,		17810	0.0883		0.0755	False		,,,				2504	0.1626																0													64.0	69.0	68.0					11																	65270091		874	1988	2862			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270091delT				RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.373	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1		0.00	38	0	T	NR_002819		65270091	+1	tier1		no_errors	ENST00000534336	ensembl	human	known	74_37	rna	17.50	33	7	DEL	0.911	-
MAN2A2	4122	genome.wustl.edu	37	15	91453730	91453730	+	Splice_Site	DEL	G	G	-	rs370140855		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:91453730delG	ENST00000559717.1	+	11	2036		c.e11-1		MAN2A2_ENST00000431652.2_Splice_Site|MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000360468.3_Splice_Site			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2						cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCTCTGGGCAGGGGGGCAGAG	0.637																																																	0													34.0	34.0	34.0					15																	91453730		2197	4297	6494	SO:0001630	splice_region_variant	0			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1578-1G>-	15.37:g.91453730delG			A6NH12|A8K1E8|Q13754	Splice_Site	DEL	-	e10-1	ENST00000559717.1	37	c.1578-1	CCDS32332.1	15																																																																																			MAN2A2	-	-	ENSG00000196547		0.637	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5		0.00	76	0	G	NM_006122	Intron	91453730	+1	tier1		no_errors	ENST00000360468	ensembl	human	known	74_37	splice_site_del	10.42	86	10	DEL	1.000	-
MANSC1	54682	genome.wustl.edu	37	12	12483849	12483849	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:12483849G>A	ENST00000535902.1	-	4	971	c.408C>T	c.(406-408)ccC>ccT	p.P136P	MANSC1_ENST00000396349.3_Silent_p.P102P|MANSC1_ENST00000545735.1_Silent_p.P55P			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	136						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AATCTTCCTGGGGTAACTCTT	0.423																																																	0													101.0	97.0	99.0					12																	12483849		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.408C>T	12.37:g.12483849G>A			Q8NEC1|Q9NW60	Silent	SNP	pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC	p.P136	ENST00000535902.1	37	c.408	CCDS8648.1	12																																																																																			MANSC1	-	NULL	ENSG00000111261		0.423	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANSC1	HGNC	protein_coding	OTTHUMT00000400144.1	-	0.00	83	0	G	NM_018050		12483849	-1	tier1	-	no_errors	ENST00000535902	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.000	A
MAP1LC3B	81631	genome.wustl.edu	37	16	87436702	87436702	+	Stop_Codon_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:87436702delA	ENST00000268607.5	+	0	1005				RP11-178L8.3_ENST00000569147.1_RNA|MAP1LC3B_ENST00000534986.1_Stop_Codon_Del	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN	microtubule-associated protein 1 light chain 3 beta						autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasmic vesicle (GO:0031410)|intracellular (GO:0005622)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(80;0.0249)		TTGTCAGTGTAAAACCAGAAA	0.413																																																	0													126.0	98.0	107.0					16																	87436702		2198	4300	6498	SO:0001567	stop_retained_variant	0			AF087871	CCDS10960.1	16q24.2	2014-02-12			ENSG00000140941	ENSG00000140941			13352	protein-coding gene	gene with protein product		609604					Standard	NM_022818		Approved	ATG8F	uc002fjx.3	Q9GZQ8	OTTHUMG00000137654	Exception_encountered	16.37:g.87436702delA			Q6NW02	Frame_Shift_Del	DEL	pfam_Atg8_fam,pfam_Atg12	p.*126fs	ENST00000268607.5	37	c.377	CCDS10960.1	16																																																																																			MAP1LC3B	-	NULL	ENSG00000140941		0.413	MAP1LC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3B	HGNC	protein_coding	OTTHUMT00000269106.1		0.00	73	0	A			87436702	+1	tier1		no_errors	ENST00000268607	ensembl	human	known	74_37	frame_shift_del	15.49	60	11	DEL	0.001	-
MAP3K1	4214	genome.wustl.edu	37	5	56177702	56177702	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:56177702A>G	ENST00000399503.3	+	14	2675	c.2675A>G	c.(2674-2676)aAc>aGc	p.N892S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	892				DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTTCCCAACAACTATCTGGAA	0.463																																																	0													70.0	66.0	68.0					5																	56177702		1938	4142	6080	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2675A>G	5.37:g.56177702A>G	ENSP00000382423:p.Asn892Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.N892S	ENST00000399503.3	37	c.2675	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.037092	0.00040	.	.	ENSG00000095015	ENST00000399503	T	0.28454	1.61	5.41	1.37	0.22104	.	2.115110	0.02081	N	0.052341	T	0.22666	0.0547	L	0.43152	1.355	0.24112	N	0.995839	B	0.02656	0.0	B	0.01281	0.0	T	0.16217	-1.0410	10	0.06365	T	0.9	.	3.61	0.08057	0.4662:0.1967:0.3371:0.0	.	892	Q13233	M3K1_HUMAN	S	892	ENSP00000382423:N892S	ENSP00000382423:N892S	N	+	2	0	MAP3K1	56213459	0.995000	0.38212	0.061000	0.19648	0.001000	0.01503	2.096000	0.41738	0.753000	0.32945	-0.242000	0.12053	AAC	MAP3K1	-	NULL	ENSG00000095015		0.463	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0.00	27	0	A	XM_042066		56177702	+1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	missense	24.14	22	7	SNP	0.646	G
MAP3K13	9175	genome.wustl.edu	37	3	185184613	185184613	+	Splice_Site	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:185184613G>A	ENST00000265026.3	+	10	1839		c.e10-1		MAP3K13_ENST00000535426.1_Splice_Site|MAP3K13_ENST00000446828.1_Splice_Site|MAP3K13_ENST00000424227.1_Splice_Site|MAP3K13_ENST00000443863.1_Splice_Site	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTATTCTGCAGGCGTGAGCAA	0.458																																																	0													119.0	101.0	107.0					3																	185184613		2203	4300	6503	SO:0001630	splice_region_variant	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1506-1G>A	3.37:g.185184613G>A				Splice_Site	SNP	-	e9-1	ENST00000265026.3	37	c.1506-1	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272129	0.80469	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K13	186667307	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	9.695000	0.98691	2.776000	0.95493	0.655000	0.94253	.	MAP3K13	-	-	ENSG00000073803		0.458	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1	-	0.00	50	0	G	NM_004721	Intron	185184613	+1	tier1	-	no_errors	ENST00000265026	ensembl	human	known	74_37	splice_site	19.51	33	8	SNP	1.000	A
MAP3K2	10746	genome.wustl.edu	37	2	128096511	128096511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:128096511delT	ENST00000409947.1	-	3	402	c.120delA	c.(118-120)aaafs	p.K40fs	MAP3K2_ENST00000344908.5_Frame_Shift_Del_p.K40fs			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	40					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	TAAATACCTGTTTTTTTGGTG	0.333																																																	0													63.0	55.0	57.0					2																	128096511		1799	4061	5860	SO:0001589	frameshift_variant	0			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.120delA	2.37:g.128096511delT	ENSP00000387246:p.Lys40fs		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K40fs	ENST00000409947.1	37	c.120	CCDS46404.1	2																																																																																			MAP3K2	-	NULL	ENSG00000169967		0.333	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1		0.00	37	0	T	NM_006609		128096511	-1	tier1		no_errors	ENST00000344908	ensembl	human	known	74_37	frame_shift_del	11.11	32	4	DEL	0.721	-
MAP4K5	11183	genome.wustl.edu	37	14	50901268	50901268	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:50901268T>A	ENST00000013125.4	-	27	2326	c.2008A>T	c.(2008-2010)Agt>Tgt	p.S670C		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	670	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTCAAAGGACTTGGCAAAGGA	0.373																																																	0													45.0	39.0	41.0					14																	50901268		1849	4085	5934	SO:0001583	missense	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.2008A>T	14.37:g.50901268T>A	ENSP00000013125:p.Ser670Cys		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.S670C	ENST00000013125.4	37	c.2008		14	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704146	0.68615	.	.	ENSG00000012983	ENST00000013125	T	0.73363	-0.74	4.96	4.96	0.65561	Citron-like (3);	0.119774	0.85682	D	0.000000	T	0.65249	0.2673	N	0.04508	-0.205	0.58432	D	0.999999	B;P	0.49783	0.006;0.928	B;P	0.53988	0.03;0.739	T	0.69250	-0.5194	10	0.33141	T	0.24	.	14.6592	0.68858	0.0:0.0:0.0:1.0	.	670;670	B2R928;Q9Y4K4	.;M4K5_HUMAN	C	670	ENSP00000013125:S670C	ENSP00000013125:S670C	S	-	1	0	MAP4K5	49971018	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.148000	0.71788	1.861000	0.53984	0.454000	0.30748	AGT	MAP4K5	-	pfam_Citron,smart_Citron	ENSG00000012983		0.373	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	-	0.00	43	0	T	NM_006575		50901268	-1	tier1	-	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A
MAP7	9053	genome.wustl.edu	37	6	136847057	136847059	+	Intron	DEL	TCT	TCT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:136847057_136847059delTCT	ENST00000354570.3	-	1	478				MAP7_ENST00000432797.2_Intron|MAP7_ENST00000438100.2_In_Frame_Del_p.K15del|MAP7_ENST00000454590.1_In_Frame_Del_p.K15del	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTTGCATTGGTCTTCTTCAGTCT	0.369																																																	0																																										SO:0001627	intron_variant	0			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.67+24420AGA>-	6.37:g.136847060_136847062delTCT			B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	In_Frame_Del	DEL	pfam_MAP7	p.K15in_frame_del	ENST00000354570.3	37	c.46_44	CCDS5178.1	6																																																																																			MAP7	-	NULL	ENSG00000135525		0.369	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2		0.00	69	0	TCT	NM_003980		136847059	-1	tier1		no_errors	ENST00000454590	ensembl	human	known	74_37	in_frame_del	16.49	81	16	DEL	1.000:1.000:1.000	-
MAPK8IP3	23162	genome.wustl.edu	37	16	1797089	1797089	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1797089C>T	ENST00000250894.4	+	6	961	c.804C>T	c.(802-804)acC>acT	p.T268T	MAPK8IP3_ENST00000356010.5_Silent_p.T268T|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	268					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CACCCAGCACCACAGGCACCA	0.652																																																	0													57.0	83.0	74.0					16																	1797089		2166	4273	6439	SO:0001819	synonymous_variant	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.804C>T	16.37:g.1797089C>T			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.T268	ENST00000250894.4	37	c.804	CCDS10442.2	16																																																																																			MAPK8IP3	-	NULL	ENSG00000138834		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	-	0.00	163	0	C	NM_001040439		1797089	+1	tier1	-	no_errors	ENST00000250894	ensembl	human	known	74_37	silent	7.91	128	11	SNP	1.000	T
MAPK9	5601	genome.wustl.edu	37	5	179691803	179691803	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:179691803delT	ENST00000452135.2	-	4	587	c.289delA	c.(289-291)actfs	p.T97fs	MAPK9_ENST00000425491.2_Frame_Shift_Del_p.T97fs|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Frame_Shift_Del_p.T97fs|MAPK9_ENST00000343111.6_Frame_Shift_Del_p.T97fs|MAPK9_ENST00000539014.1_Frame_Shift_Del_p.T97fs|MAPK9_ENST00000347470.4_Frame_Shift_Del_p.T97fs|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000393360.3_Frame_Shift_Del_p.T97fs			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTTCTAGAGTTTTTTGTGGT	0.254																																																	0													42.0	43.0	42.0					5																	179691803		2187	4283	6470	SO:0001589	frameshift_variant	0			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.289delA	5.37:g.179691803delT	ENSP00000394560:p.Thr97fs		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK	p.T97fs	ENST00000452135.2	37	c.289	CCDS4453.1	5																																																																																			MAPK9	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000050748		0.254	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3		0.00	49	0	T			179691803	-1	tier1		no_errors	ENST00000452135	ensembl	human	known	74_37	frame_shift_del	28.33	43	17	DEL	1.000	-
MAPKAPK2	9261	genome.wustl.edu	37	1	206905942	206905942	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:206905942C>T	ENST00000367103.3	+	10	1275	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	MAPKAPK2_ENST00000294981.4_3'UTR	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	361	Autoinhibitory helix. {ECO:0000250}.		A -> S (in dbSNP:rs55894011). {ECO:0000269|PubMed:17344846}.		3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AGTGCCTTGGCCACAATGCGC	0.552																																																	0													85.0	83.0	83.0					1																	206905942		2203	4300	6503	SO:0001583	missense	0			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.1082C>T	1.37:g.206905942C>T	ENSP00000356070:p.Ala361Val		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A361V	ENST00000367103.3	37	c.1082	CCDS31001.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.651259	0.96714	.	.	ENSG00000162889	ENST00000367103	T	0.49720	0.77	5.27	5.27	0.74061	Protein kinase-like domain (1);	.	.	.	.	T	0.64527	0.2606	M	0.80982	2.52	0.80722	D	1	D	0.67145	0.996	P	0.53146	0.719	T	0.71196	-0.4664	9	0.72032	D	0.01	-24.8105	17.8567	0.88765	0.0:1.0:0.0:0.0	.	361	P49137	MAPK2_HUMAN	V	361	ENSP00000356070:A361V	ENSP00000356070:A361V	A	+	2	0	MAPKAPK2	204972565	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.730000	0.84881	2.465000	0.83290	0.655000	0.94253	GCC	MAPKAPK2	-	superfamily_Kinase-like_dom	ENSG00000162889		0.552	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1	-	0.00	65	0	C	NM_004759		206905942	+1	tier1	-	no_errors	ENST00000367103	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
MAPKAPK5	8550	genome.wustl.edu	37	12	112304016	112304016	+	Missense_Mutation	SNP	G	G	A	rs371560016		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:112304016G>A	ENST00000551404.2	+	3	275	c.167G>A	c.(166-168)cGt>cAt	p.R56H	MAPKAPK5_ENST00000546394.1_3'UTR|MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.R56H			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						CTTCTTGATCGTCCAAAAGCT	0.353																																																	0								G	HIS/ARG,HIS/ARG	0,3660		0,0,1830	72.0	66.0	68.0		167,167	5.6	1.0	12		68	1,8151		0,1,4075	no	missense,missense	MAPKAPK5	NM_003668.2,NM_139078.1	29,29	0,1,5905	AA,AG,GG		0.0123,0.0,0.0085	possibly-damaging,possibly-damaging	56/472,56/474	112304016	1,11811	1830	4076	5906	SO:0001583	missense	0			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.167G>A	12.37:g.112304016G>A	ENSP00000449381:p.Arg56His		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R56H	ENST00000551404.2	37	c.167	CCDS44975.1	12	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039495	0.93630	0.0	1.23E-4	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000546394;ENST00000551404	T;T	0.66815	-0.23;-0.23	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.118427	0.64402	D	0.000015	T	0.79707	0.4492	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.971;0.999	P;D	0.74674	0.521;0.984	T	0.80507	-0.1352	10	0.66056	D	0.02	.	17.8739	0.88819	0.0:0.0:1.0:0.0	.	56;56	Q8IW41;Q8IW41-2	MAPK5_HUMAN;.	H	56	ENSP00000449667:R56H;ENSP00000449381:R56H	ENSP00000202788:R56H	R	+	2	0	MAPKAPK5	110788399	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.660000	0.98599	2.651000	0.90000	0.467000	0.42956	CGT	MAPKAPK5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000089022		0.353	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPKAPK5	HGNC	protein_coding	OTTHUMT00000405019.2	-	0.00	47	0	G	NM_139078		112304016	+1	tier1	-	no_errors	ENST00000551404	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	A
MAPRE1	22919	genome.wustl.edu	37	20	31424518	31424518	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:31424518G>A	ENST00000375571.5	+	4	485	c.346G>A	c.(346-348)Gat>Aat	p.D116N		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	116	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GAAGTTTTTCGATGCAAACTA	0.408																																																	0													81.0	79.0	80.0					20																	31424518		2203	4300	6503	SO:0001583	missense	0			U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.346G>A	20.37:g.31424518G>A	ENSP00000364721:p.Asp116Asn		B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain	p.D116N	ENST00000375571.5	37	c.346	CCDS13208.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.083425	0.94050	.	.	ENSG00000101367	ENST00000375571	T	0.48201	0.82	4.45	4.45	0.53987	Calponin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.89030	3	0.80722	D	1	D	0.56968	0.978	B	0.44108	0.441	T	0.71826	-0.4475	10	0.56958	D	0.05	-21.5638	16.6237	0.84936	0.0:0.0:1.0:0.0	.	116	Q15691	MARE1_HUMAN	N	116	ENSP00000364721:D116N	ENSP00000364721:D116N	D	+	1	0	MAPRE1	30888179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.531000	0.98054	2.465000	0.83290	0.655000	0.94253	GAT	MAPRE1	-	superfamily_CH-domain,pfscan_CH-domain	ENSG00000101367		0.408	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE1	HGNC	protein_coding	OTTHUMT00000078647.2	-	0.00	58	0	G	NM_012325		31424518	+1	tier1	-	no_errors	ENST00000375571	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	A
MARCH4	57574	genome.wustl.edu	37	2	217142513	217142513	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:217142513G>A	ENST00000273067.4	-	3	2513	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	249						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AAATACTGGCGATGAGGAAGA	0.562																																																	0													105.0	92.0	96.0					2																	217142513		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.747C>T	2.37:g.217142513G>A			Q4KMN7|Q86WR8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.I249	ENST00000273067.4	37	c.747	CCDS33376.1	2																																																																																			MARCH4	-	NULL	ENSG00000144583		0.562	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	-	0.00	33	0	G	NM_020814		217142513	-1	tier1	-	no_errors	ENST00000273067	ensembl	human	known	74_37	silent	22.73	17	5	SNP	1.000	A
MARCH6	10299	genome.wustl.edu	37	5	10402530	10402530	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:10402530G>A	ENST00000274140.5	+	13	1220	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	MARCH6_ENST00000510792.1_Missense_Mutation_p.R61H|MARCH6_ENST00000449913.2_Missense_Mutation_p.R315H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R258H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	363					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R363H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CATAGATCTCGTCGCTTACTG	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											234.0	223.0	227.0					5																	10402530		2203	4300	6503	SO:0001583	missense	0			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1088G>A	5.37:g.10402530G>A	ENSP00000274140:p.Arg363His		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R363H	ENST00000274140.5	37	c.1088	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257089	0.59321	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.51071	1.74;0.73;1.74;0.72	5.85	4.98	0.66077	.	0.052606	0.85682	D	0.000000	T	0.54464	0.1860	L	0.52573	1.65	0.80722	D	1	P;D;D	0.76494	0.838;0.999;0.996	B;P;P	0.56700	0.199;0.804;0.731	T	0.50355	-0.8838	10	0.25751	T	0.34	-14.7744	13.2371	0.59974	0.0731:0.0:0.9269:0.0	.	258;315;363	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	H	315;258;363;61	ENSP00000414643:R315H;ENSP00000425930:R258H;ENSP00000274140:R363H;ENSP00000424512:R61H	ENSP00000274140:R363H	R	+	2	0	MARCH6	10455530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.025000	0.76449	1.490000	0.48466	0.655000	0.94253	CGT	MARCH6	-	NULL	ENSG00000145495		0.373	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	-	0.00	69	0	G	NM_005885		10402530	+1	tier1	-	no_errors	ENST00000274140	ensembl	human	known	74_37	missense	13.04	60	9	SNP	1.000	A
MARCH7	64844	genome.wustl.edu	37	2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																																	0													63.0	64.0	64.0					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	0			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S296fs	ENST00000259050.4	37	c.879	CCDS2210.1	2																																																																																			MARCH7	-	NULL	ENSG00000136536		0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	HGNC	protein_coding	OTTHUMT00000255040.3		0.00	39	0	T	NM_022826		160604680	+1	tier1		no_errors	ENST00000259050	ensembl	human	known	74_37	frame_shift_del	23.33	23	7	DEL	0.910	-
MARK3	4140	genome.wustl.edu	37	14	103894732	103894732	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:103894732delA	ENST00000429436.2	+	3	762	c.252delA	c.(250-252)atafs	p.I84fs	MARK3_ENST00000335102.5_Frame_Shift_Del_p.I84fs|MARK3_ENST00000216288.7_Frame_Shift_Del_p.I84fs|MARK3_ENST00000440884.3_Frame_Shift_Del_p.I84fs|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000303622.9_Frame_Shift_Del_p.I84fs|MARK3_ENST00000553942.1_Frame_Shift_Del_p.I84fs|MARK3_ENST00000416682.2_Frame_Shift_Del_p.I84fs	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGGTTGCAATAAAAATAATTG	0.284																																																	0													17.0	16.0	16.0					14																	103894732		1742	3995	5737	SO:0001589	frameshift_variant	0			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.252delA	14.37:g.103894732delA	ENSP00000411397:p.Ile84fs		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I86fs	ENST00000429436.2	37	c.252	CCDS45165.1	14																																																																																			MARK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000075413		0.284	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	HGNC	protein_coding	OTTHUMT00000415144.1		0.00	68	0	A	NM_001128918		103894732	+1	tier1		no_errors	ENST00000429436	ensembl	human	known	74_37	frame_shift_del	26.51	61	22	DEL	1.000	-
MAT2B	27430	genome.wustl.edu	37	5	162945388	162945389	+	3'UTR	DEL	TT	TT	-	rs200442777		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:162945388_162945389delTT	ENST00000321757.6	+	0	1163_1164				MAT2B_ENST00000280969.5_3'UTR|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000521838.2_3'UTR	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta						cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	TGTTGGGTTCTTTTTTTTTTTT	0.317																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.*20TT>-	5.37:g.162945398_162945399delTT			B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	RNA	DEL	-	NULL	ENST00000321757.6	37	NULL	CCDS4365.1	5																																																																																			MAT2B	-	-	ENSG00000038274		0.317	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2B	HGNC	protein_coding	OTTHUMT00000252749.2		0.00	62	0	TT	NM_013283		162945389	+1	tier1		no_errors	ENST00000521838	ensembl	human	known	74_37	rna	26.32	56	20	DEL	0.000:0.000	-
MATN1	4146	genome.wustl.edu	37	1	31192412	31192412	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:31192412G>T	ENST00000373765.4	-	3	477				MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein						extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACTCCCCGGTATGATACA	0.612											OREG0013305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.442-608C>A	1.37:g.31192412G>T		822	B2R7E3|Q5TBB9	RNA	SNP	-	NULL	ENST00000373765.4	37	NULL	CCDS336.1	1																																																																																			MATN1-AS1	-	-	ENSG00000186056		0.612	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN1-AS1	HGNC	protein_coding	OTTHUMT00000010458.1	-	0.00	66	0	G	NM_002379		31192412	+1	tier1	-	no_errors	ENST00000414532	ensembl	human	known	74_37	rna	8.33	44	4	SNP	0.000	T
MATN4	8785	genome.wustl.edu	37	20	43926824	43926824	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:43926824C>T	ENST00000372754.1	-	7	1543	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	MATN4_ENST00000342716.4_Missense_Mutation_p.R471H|MATN4_ENST00000353917.5_Missense_Mutation_p.R389H|MATN4_ENST00000372751.4_Missense_Mutation_p.R322H|MATN4_ENST00000537548.1_Missense_Mutation_p.R471H|MATN4_ENST00000372756.1_Missense_Mutation_p.R471H|MATN4_ENST00000360607.6_Missense_Mutation_p.R430H			O95460	MATN4_HUMAN	matrilin 4	512	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTCCTTGGCGCGCGCTGCCCA	0.677																																																	0													48.0	42.0	44.0					20																	43926824		2203	4300	6503	SO:0001583	missense	0			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1535G>A	20.37:g.43926824C>T	ENSP00000361840:p.Arg512His		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A	p.R512H	ENST00000372754.1	37	c.1535		20	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083405	0.76642	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.46	5.46	0.80206	.	0.000000	0.44483	D	0.000458	D	0.89660	0.6779	M	0.75615	2.305	0.43750	D	0.996258	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.73380	0.98;0.896;0.977	D	0.90237	0.4283	10	0.72032	D	0.01	.	11.7666	0.51935	0.0:0.9199:0.0:0.0801	.	389;430;471	A6NNA4;O95460-4;O95460-2	.;.;.	H	322;512;471;389;430;471;471;512;322	ENSP00000361839:R322H;ENSP00000361840:R512H;ENSP00000361842:R471H;ENSP00000243983:R389H;ENSP00000353819:R430H;ENSP00000343164:R471H;ENSP00000440328:R471H;ENSP00000361837:R322H	ENSP00000255132:R512H	R	-	2	0	MATN4	43360238	0.998000	0.40836	0.925000	0.36789	0.848000	0.48234	3.289000	0.51747	2.559000	0.86315	0.644000	0.83932	CGC	MATN4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000124159		0.677	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1	-	0.00	19	0	C			43926824	-1	tier1	-	no_errors	ENST00000372754	ensembl	human	known	74_37	missense	45.45	12	10	SNP	0.996	T
MAU2	23383	genome.wustl.edu	37	19	19456168	19456168	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:19456168C>T	ENST00000392313.6	+	12	1390	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	MAU2_ENST00000262815.8_Missense_Mutation_p.T404M	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	404					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CAGTTCACCACGGCCCTGCGG	0.647																																																	0													112.0	97.0	102.0					19																	19456168		2203	4300	6503	SO:0001583	missense	0			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1211C>T	19.37:g.19456168C>T	ENSP00000376127:p.Thr404Met		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.T404M	ENST00000392313.6	37	c.1211	CCDS32969.2	19	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532665	0.85812	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.63417	-0.04;-0.04	5.25	5.25	0.73442	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	N	0.22421	0.69	0.80722	D	1	D;P	0.89917	1.0;0.916	D;P	0.70227	0.968;0.671	T	0.70139	-0.4954	10	0.48119	T	0.1	.	17.3976	0.87450	0.0:1.0:0.0:0.0	.	10;404	Q9Y6X3-2;Q9Y6X3	.;SCC4_HUMAN	M	404	ENSP00000376127:T404M;ENSP00000262815:T404M	ENSP00000262815:T404M	T	+	2	0	MAU2	19317168	1.000000	0.71417	0.989000	0.46669	0.773000	0.43773	7.512000	0.81728	2.462000	0.83206	0.561000	0.74099	ACG	MAU2	-	pfam_Cohesin_loading_factor,smart_TPR_repeat	ENSG00000129933		0.647	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	-	0.00	93	0	C	NM_015329		19456168	+1	tier1	-	no_errors	ENST00000262815	ensembl	human	known	74_37	missense	24.69	61	20	SNP	1.000	T
MBD2	8932	genome.wustl.edu	37	18	51750459	51750459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:51750459delG	ENST00000256429.3	-	1	699	c.471delC	c.(469-471)cccfs	p.P157fs	MBD2_ENST00000398398.2_Frame_Shift_Del_p.P157fs|MBD2_ENST00000583046.1_Frame_Shift_Del_p.P157fs|SNORA37_ENST00000384504.1_RNA	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	157	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		TCTTCCATCCGGGGGGGAGGG	0.687																																																	0													22.0	22.0	22.0					18																	51750459		2201	4298	6499	SO:0001589	frameshift_variant	0			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.471delC	18.37:g.51750459delG	ENSP00000256429:p.Pro157fs		O95242|Q9UIS8	Frame_Shift_Del	DEL	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.G158fs	ENST00000256429.3	37	c.471	CCDS11953.1	18																																																																																			MBD2	-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	ENSG00000134046		0.687	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD2	HGNC	protein_coding	OTTHUMT00000256003.2		0.00	63	0	G	NM_003927		51750459	-1	tier1		no_errors	ENST00000256429	ensembl	human	known	74_37	frame_shift_del	14.81	46	8	DEL	1.000	-
MBD4	8930	genome.wustl.edu	37	3	129155548	129155548	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:129155548delT	ENST00000249910.1	-	3	1114	c.939delA	c.(937-939)aaafs	p.K313fs	MBD4_ENST00000503197.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000507208.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000429544.2_Frame_Shift_Del_p.K313fs	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	313					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATGATCTTTCTTTTTTTTTTA	0.373								Base excision repair (BER), DNA glycosylases																																									0										7,57,4198		0,0,7,1,55,2068	71.0	78.0	76.0			3.4	0.0	3		77	22,69,8159		0,0,22,0,69,4034	no	codingComplex	MBD4	NM_003925.1		0,0,29,1,124,6102	A1A1,A1A2,A1R,A2A2,A2R,RR		1.103,1.5016,1.2388			129155548	29,126,12357	2202	4299	6501	SO:0001589	frameshift_variant	0			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.939delA	3.37:g.129155548delT	ENSP00000249910:p.Lys313fs		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Del	DEL	pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_dom,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd	p.E314fs	ENST00000249910.1	37	c.939	CCDS3058.1	3																																																																																			MBD4	-	pirsf_Me_CpG-bd_MBD4	ENSG00000129071		0.373	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBD4	HGNC	protein_coding	OTTHUMT00000355529.1		0.00	46	0	T	NM_003925		129155548	-1	tier1		no_errors	ENST00000249910	ensembl	human	known	74_37	frame_shift_del	26.83	30	11	DEL	0.059	-
MBL2	4153	genome.wustl.edu	37	10	54531373	54531373	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:54531373G>T	ENST00000373968.3	-	1	87	c.23C>A	c.(22-24)cCt>cAt	p.P8H		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	8					acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GAGAAGGAGAGGGAGTGATGG	0.498																																																	0													69.0	62.0	65.0					10																	54531373		2203	4300	6503	SO:0001583	missense	0			AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.23C>A	10.37:g.54531373G>T	ENSP00000363079:p.Pro8His		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P8H	ENST00000373968.3	37	c.23	CCDS7247.1	10	.	.	.	.	.	.	.	.	.	.	G	2.733	-0.263925	0.05754	.	.	ENSG00000165471	ENST00000373968	T	0.71103	-0.54	4.43	1.33	0.21861	.	0.938895	0.08847	N	0.885067	T	0.48333	0.1494	N	0.14661	0.345	0.09310	N	1	P	0.40000	0.698	B	0.40329	0.326	T	0.33189	-0.9878	10	0.14252	T	0.57	0.3329	3.0571	0.06188	0.2991:0.2318:0.4691:0.0	.	8	P11226	MBL2_HUMAN	H	8	ENSP00000363079:P8H	ENSP00000363079:P8H	P	-	2	0	MBL2	54201379	0.378000	0.25114	0.254000	0.24359	0.180000	0.23129	0.446000	0.21694	0.276000	0.22118	-0.175000	0.13238	CCT	MBL2	-	NULL	ENSG00000165471		0.498	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	HGNC	protein_coding	OTTHUMT00000048115.1	-	0.00	53	0	G	NM_000242		54531373	-1	tier1	-	no_errors	ENST00000373968	ensembl	human	known	74_37	missense	13.16	33	5	SNP	0.288	T
MBNL2	10150	genome.wustl.edu	37	13	97995458	97995458	+	Silent	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:97995458T>A	ENST00000376673.3	+	4	1309	c.528T>A	c.(526-528)acT>acA	p.T176T	MBNL2_ENST00000343600.4_Silent_p.T176T|MBNL2_ENST00000397601.1_Silent_p.T176T|MBNL2_ENST00000345429.6_Silent_p.T176T|MBNL2_ENST00000445661.2_Intron			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	176					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TTCTCAGGACTGACAAACTGG	0.443																																																	0													73.0	77.0	76.0					13																	97995458		2203	4300	6503	SO:0001819	synonymous_variant	0			AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.528T>A	13.37:g.97995458T>A			Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.T176	ENST00000376673.3	37	c.528		13																																																																																			MBNL2	-	smart_Znf_CCCH	ENSG00000139793		0.443	MBNL2-202	KNOWN	basic	protein_coding	MBNL2	HGNC	protein_coding		-	0.00	84	0	T	NM_144778		97995458	+1	tier1	-	no_errors	ENST00000376673	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.674	A
MCAM	4162	genome.wustl.edu	37	11	119184029	119184029	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:119184029C>T	ENST00000264036.4	-	6	574				MCAM_ENST00000392814.1_Missense_Mutation_p.V13I|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule						anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GACCCAGAAACATTGTATAAA	0.363																																																	0																																										SO:0001627	intron_variant	0			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.560-370G>A	11.37:g.119184029C>T			O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V13I	ENST00000264036.4	37	c.37	CCDS31690.1	11	.	.	.	.	.	.	.	.	.	.	C	8.737	0.917995	0.17982	.	.	ENSG00000076706	ENST00000392814	T	0.68331	-0.32	2.11	-3.95	0.04118	.	.	.	.	.	T	0.47507	0.1449	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37150	-0.9718	5	.	.	.	.	4.1293	0.10141	0.4077:0.3623:0.23:0.0	.	.	.	.	I	13	ENSP00000376561:V13I	.	V	-	1	0	MCAM	118689239	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.366000	0.07563	-1.213000	0.02617	-1.277000	0.01392	GTT	MCAM	-	NULL	ENSG00000076706		0.363	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	HGNC	protein_coding	OTTHUMT00000388332.2	-	0.00	45	0	C			119184029	-1	tier1	-	no_errors	ENST00000392814	ensembl	human	known	74_37	missense	38.46	24	15	SNP	0.000	T
MCC	4163	genome.wustl.edu	37	5	112478960	112478960	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:112478960G>A	ENST00000302475.4	-	3	832	c.269C>T	c.(268-270)gCg>gTg	p.A90V	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.A280V|MCC_ENST00000515367.2_Missense_Mutation_p.A27V	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	90					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTGAGCTCCGCAATGACGCT	0.552																																																	0													140.0	102.0	115.0					5																	112478960		2202	4300	6502	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.269C>T	5.37:g.112478960G>A	ENSP00000305617:p.Ala90Val		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.A90V	ENST00000302475.4	37	c.269	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254195	0.80135	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.78707	-1.2;1.37;-0.05	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	L	0.49778	1.585	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.76071	0.959;0.939;0.987;0.939	D	0.85704	0.1315	10	0.59425	D	0.04	-14.1313	20.1253	0.97977	0.0:0.0:1.0:0.0	.	90;52;280;90	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	V	90;27;280	ENSP00000305617:A90V;ENSP00000421615:A27V;ENSP00000386227:A280V	ENSP00000305617:A90V	A	-	2	0	MCC	112506859	1.000000	0.71417	0.869000	0.34112	0.188000	0.23474	7.368000	0.79567	2.832000	0.97577	0.655000	0.94253	GCG	MCC	-	NULL	ENSG00000171444		0.552	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	-	0.00	31	0	G	NM_001085377		112478960	-1	tier1	-	no_errors	ENST00000302475	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.997	A
MCCC1	56922	genome.wustl.edu	37	3	182804530	182804530	+	Missense_Mutation	SNP	T	T	C	rs144872258		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:182804530T>C	ENST00000265594.4	-	4	466	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	MCCC1_ENST00000539926.1_Intron|MCCC1_ENST00000492597.1_5'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	107	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CATAGATAGGTAGCTCTGCTG	0.453																																																	0								T	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	90.0	76.0	81.0		320	5.5	1.0	3	dbSNP_134	81	0,8600		0,0,4300	no	missense	MCCC1	NM_020166.3	194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	107/726	182804530	1,13005	2203	4300	6503	SO:0001583	missense	0			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.320A>G	3.37:g.182804530T>C	ENSP00000265594:p.Tyr107Cys		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.Y107C	ENST00000265594.4	37	c.320	CCDS3241.1	3	.	.	.	.	.	.	.	.	.	.	T	24.0	4.481468	0.84747	2.27E-4	0.0	ENSG00000078070	ENST00000265594;ENST00000476176;ENST00000448585	D;D	0.99499	-6.02;-6.02	5.5	5.5	0.81552	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96546	0.9404	10	0.87932	D	0	.	15.2698	0.73693	0.0:0.0:0.0:1.0	.	60;107	E9PG35;Q96RQ3	.;MCCA_HUMAN	C	107;60;60	ENSP00000265594:Y107C;ENSP00000420433:Y60C	ENSP00000265594:Y107C	Y	-	2	0	MCCC1	184287224	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.362000	0.79507	2.103000	0.63969	0.460000	0.39030	TAC	MCCC1	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom	ENSG00000078070		0.453	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC1	HGNC	protein_coding	OTTHUMT00000350775.1	-	0.00	71	0	T	NM_020166		182804530	-1	tier1	rs144872258	no_errors	ENST00000265594	ensembl	human	known	74_37	missense	6.17	75	5	SNP	1.000	C
MCM8	84515	genome.wustl.edu	37	20	5953318	5953318	+	Intron	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:5953318A>C	ENST00000378896.3	+	12	1631				MCM8_ENST00000378883.1_Intron|MCM8_ENST00000378886.2_Silent_p.S440S|MCM8_ENST00000265187.4_Intron	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8						cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ctcccacctcagcctgccgag	0.522																																																	0																																										SO:0001627	intron_variant	0			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1255-384A>C	20.37:g.5953318A>C			B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.S440	ENST00000378896.3	37	c.1320	CCDS13094.1	20																																																																																			MCM8	-	smart_MCM_DNA-dep_ATPase	ENSG00000125885		0.522	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1	-	0.00	9	0	A	NM_032485		5953318	+1	tier1	-	no_errors	ENST00000378886	ensembl	human	known	74_37	silent	35.71	9	5	SNP	0.088	C
MCOLN1	57192	genome.wustl.edu	37	19	7594070	7594072	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:7594070_7594072delCTT	ENST00000264079.6	+	10	1343_1345	c.1218_1220delCTT	c.(1216-1221)accttc>acc	p.F408del		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	408			Missing (in MLIV; mild psychomotor involvement; does not affect channel activity; affects channel inhibition by low pH; still localizes to late endosomes). {ECO:0000269|PubMed:11030752, ECO:0000269|PubMed:11317355, ECO:0000269|PubMed:12182165}.		calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTACCTGACCTTCTTCCACAAC	0.581																																																	0																																										SO:0001651	inframe_deletion	0			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1218_1220delCTT	19.37:g.7594073_7594075delCTT	ENSP00000264079:p.Phe408del		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	In_Frame_Del	DEL	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.F408in_frame_del	ENST00000264079.6	37	c.1218_1220	CCDS12180.1	19																																																																																			MCOLN1	-	pfam_PKD1_2_channel	ENSG00000090674		0.581	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2		0.00	47	0	CTT	NM_020533		7594072	+1	tier1		no_errors	ENST00000264079	ensembl	human	known	74_37	in_frame_del	30.77	18	8	DEL	0.997:1.000:1.000	-
MCPH1	79648	genome.wustl.edu	37	8	6289044	6289044	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:6289044T>C	ENST00000344683.5	+	4	334	c.258T>C	c.(256-258)atT>atC	p.I86I	MCPH1_ENST00000519480.1_Silent_p.I86I|MCPH1_ENST00000522905.1_Silent_p.I86I	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	86	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAGCACACATTGATGAATCAT	0.328																																					Colon(95;1448 1467 8277 34473 35819)												0													135.0	132.0	133.0					8																	6289044		1860	4099	5959	SO:0001819	synonymous_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.258T>C	8.37:g.6289044T>C			B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Silent	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.I86	ENST00000344683.5	37	c.258	CCDS43689.1	8																																																																																			MCPH1	-	superfamily_BRCT_dom,pfscan_BRCT_dom	ENSG00000147316		0.328	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	-	0.00	39	0	T	NM_024596		6289044	+1	tier1	-	no_errors	ENST00000344683	ensembl	human	known	74_37	silent	26.83	30	11	SNP	0.001	C
MCTP1	79772	genome.wustl.edu	37	5	94050578	94050578	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:94050578delT	ENST00000515393.1	-	20	2623	c.2624delA	c.(2623-2625)aagfs	p.K875fs	ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000429576.2_Frame_Shift_Del_p.K568fs|MCTP1_ENST00000505078.1_Frame_Shift_Del_p.K391fs|MCTP1_ENST00000312216.8_Frame_Shift_Del_p.K654fs|MCTP1_ENST00000514040.1_5'UTR	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	875					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TATAAATCCCTTTTTTTCACT	0.348																																																	0													125.0	128.0	127.0					5																	94050578		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2624delA	5.37:g.94050578delT	ENSP00000424126:p.Lys875fs		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Frame_Shift_Del	DEL	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.K875fs	ENST00000515393.1	37	c.2624	CCDS34203.1	5																																																																																			MCTP1	-	pfam_PRibTrfase_C	ENSG00000175471		0.348	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3		0.00	49	0	T	NM_024717		94050578	-1	tier1		no_errors	ENST00000515393	ensembl	human	known	74_37	frame_shift_del	20.00	36	9	DEL	1.000	-
ME2	4200	genome.wustl.edu	37	18	48450472	48450472	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:48450472G>A	ENST00000321341.5	+	11	1333	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q	ME2_ENST00000382927.3_Missense_Mutation_p.R354Q	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	354					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		ATTTAGGGACGGAAAGCAAAA	0.318																																																	0													90.0	90.0	90.0					18																	48450472		2203	4300	6503	SO:0001583	missense	0			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1061G>A	18.37:g.48450472G>A	ENSP00000321070:p.Arg354Gln		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.R354Q	ENST00000321341.5	37	c.1061	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628323	0.67015	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.34472	1.36;1.36	5.56	5.56	0.83823	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.100219	0.64402	D	0.000003	T	0.63710	0.2534	M	0.83483	2.645	0.50171	D	0.999852	D;D	0.89917	0.999;1.0	D;D	0.69824	0.946;0.966	T	0.67511	-0.5652	10	0.72032	D	0.01	-11.8655	16.8161	0.85734	0.0:0.0:1.0:0.0	.	354;354	Q9BWL6;P23368	.;MAOM_HUMAN	Q	354	ENSP00000321070:R354Q;ENSP00000372384:R354Q	ENSP00000321070:R354Q	R	+	2	0	ME2	46704470	1.000000	0.71417	0.599000	0.28851	0.164000	0.22412	6.857000	0.75455	2.781000	0.95711	0.650000	0.86243	CGG	ME2	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd	ENSG00000082212		0.318	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	-	0.00	39	0	G	NM_002396		48450472	+1	tier1	-	no_errors	ENST00000321341	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.689	A
MED12L	116931	genome.wustl.edu	37	3	151095801	151095801	+	Splice_Site	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:151095801T>A	ENST00000474524.1	+	29	4251	c.4213T>A	c.(4213-4215)Tcc>Acc	p.S1405T	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Splice_Site_p.S1265T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1405						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATTTTAGTTCCTCCGAACG	0.507																																																	0													87.0	85.0	85.0					3																	151095801		2203	4300	6503	SO:0001630	splice_region_variant	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4212-1T>A	3.37:g.151095801T>A			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.S1405T	ENST00000474524.1	37	c.4213	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252329	0.80135	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.64085	-0.08;-0.08	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	M	0.61703	1.905	0.80722	D	1	D;D;P	0.61697	0.99;0.974;0.956	D;D;D	0.67725	0.946;0.953;0.931	T	0.78679	-0.2110	10	0.87932	D	0	-20.0134	14.8925	0.70620	0.0:0.0:0.0:1.0	.	1265;1404;1405	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	T	1405;1265	ENSP00000417235:S1405T;ENSP00000273432:S1265T	ENSP00000273432:S1265T	S	+	1	0	MED12L	152578491	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.351000	0.79395	1.999000	0.58509	0.533000	0.62120	TCC	MED12L	-	NULL	ENSG00000144893		0.507	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0.00	51	0	T	NM_053002	Missense_Mutation	151095801	+1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	A
MED25	81857	genome.wustl.edu	37	19	50333113	50333113	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50333113delC	ENST00000312865.6	+	6	649	c.596delC	c.(595-597)gccfs	p.A199fs	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	199	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GAGAAGGCAGCCCCCCCGGCC	0.657																																					GBM(51;894 1657 37868)												0										26,24,4204		0,0,26,2,20,2079	16.0	17.0	17.0			5.5	0.4	19		17	31,33,8184		0,0,31,4,25,4064	no	codingComplex	MED25	NM_030973.3		0,0,57,6,45,6143	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7759,1.1754,0.9119			50333113	57,57,12388	2203	4299	6502	SO:0001589	frameshift_variant	0			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.596delC	19.37:g.50333113delC	ENSP00000326767:p.Ala199fs		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Frame_Shift_Del	DEL	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.P201fs	ENST00000312865.6	37	c.596	CCDS33075.1	19																																																																																			MED25	-	pfam_Mediator_Med25_VWA	ENSG00000104973		0.657	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1		0.00	52	0	C	NM_030973		50333113	+1	tier1		no_errors	ENST00000312865	ensembl	human	known	74_37	frame_shift_del	24.64	52	17	DEL	0.380	-
MEDAG	84935	genome.wustl.edu	37	13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:31480852delG	ENST00000380482.4	+	1	525	c.200delG	c.(199-201)cggfs	p.R67fs	TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000593246.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	67					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											gcggcggcgcgggggggcTTC	0.736																																																	0										13,20,3049		2,0,9,8,4,1518	3.0	4.0	4.0			3.0	0.5	13		4	17,36,6449		0,0,17,11,14,3209	no	codingComplex	C13orf33	NM_032849.3		2,0,26,19,18,4727	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8151,1.0707,0.8973			31480852	30,56,9498	1780	3696	5476	SO:0001589	frameshift_variant	0			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.200delG	13.37:g.31480852delG	ENSP00000369849:p.Arg67fs		Q8IXF1|Q96K26|Q96NC8	Frame_Shift_Del	DEL	NULL	p.G69fs	ENST00000380482.4	37	c.200	CCDS9338.1	13																																																																																			MEDAG	-	NULL	ENSG00000102802		0.736	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEDAG	HGNC	protein_coding	OTTHUMT00000044375.1		0.00	10	0	G	NM_032849		31480852	+1	tier1		no_errors	ENST00000380482	ensembl	human	known	74_37	frame_shift_del	50.00	5	5	DEL	0.590	-
MEFV	4210	genome.wustl.edu	37	16	3304660	3304660	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:3304660C>T	ENST00000219596.1	-	2	447	c.408G>A	c.(406-408)ggG>ggA	p.G136G	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	136					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAGCTCCGCCCCCGTACGGCC	0.706																																																	0													15.0	17.0	16.0					16																	3304660		2167	4231	6398	SO:0001819	synonymous_variant	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.408G>A	16.37:g.3304660C>T			D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.G136	ENST00000219596.1	37	c.408	CCDS10498.1	16																																																																																			MEFV	-	NULL	ENSG00000103313		0.706	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	-	0.00	41	0	C	NM_000243		3304660	-1	tier1	-	no_errors	ENST00000219596	ensembl	human	known	74_37	silent	24.24	25	8	SNP	0.000	T
MEGF6	1953	genome.wustl.edu	37	1	3410403	3410404	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:3410403_3410404insC	ENST00000356575.4	-	34	4544_4545	c.4318_4319insG	c.(4318-4320)gcafs	p.A1440fs	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1440						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A1440P(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTCACAGGGTGCCCCCCCGTCA	0.668																																					Ovarian(73;978 3658)												1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4319dupG	1.37:g.3410410_3410410dupC	ENSP00000348982:p.Ala1440fs		Q4AC86|Q5VV39	Frame_Shift_Ins	INS	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.A1440fs	ENST00000356575.4	37	c.4319_4318	CCDS41237.1	1																																																																																			MEGF6	-	smart_EG-like_dom,smart_EGF_laminin	ENSG00000162591		0.668	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1		0.00	66	0	-	NM_001409		3410404	-1	tier1		no_errors	ENST00000356575	ensembl	human	known	74_37	frame_shift_ins	36.51	40	23	INS	0.000:0.000	C
MEGF8	1954	genome.wustl.edu	37	19	42840447	42840447	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:42840447delC	ENST00000251268.6	+	6	1193	c.1193delC	c.(1192-1194)gccfs	p.A398fs	MEGF8_ENST00000334370.4_Frame_Shift_Del_p.A398fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	398					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGTTCCATGCCCCCTCCCGT	0.667																																																	0													24.0	28.0	26.0					19																	42840447		2060	4168	6228	SO:0001589	frameshift_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1193delC	19.37:g.42840447delC	ENSP00000251268:p.Ala398fs		A8KAY0|O75097	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.S400fs	ENST00000251268.6	37	c.1193		19																																																																																			MEGF8	-	NULL	ENSG00000105429		0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0.00	67	0	C	NM_001410		42840447	+1	tier1		no_errors	ENST00000251268	ensembl	human	known	74_37	frame_shift_del	15.00	51	9	DEL	0.982	-
MEIOB	254528	genome.wustl.edu	37	16	1918176	1918176	+	Start_Codon_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1918176delT	ENST00000397344.3	-	0	195				MEIOB_ENST00000452149.2_Start_Codon_Del|MEIOB_ENST00000470044.1_Intron|MEIOB_ENST00000325962.3_Start_Codon_Del|MEIOB_ENST00000412554.2_Start_Codon_Del	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains						double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										GAGTTTGCCATTTTTTTAATC	0.279																																																	0													99.0	79.0	85.0					16																	1918176		692	1591	2283	SO:0001582	initiator_codon_variant	0			BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683		16.37:g.1918176delT			B1AK39|C9J0S1|Q96RY0	Frame_Shift_Del	DEL	superfamily_NA-bd_OB-fold	p.M1fs	ENST00000397344.3	37	c.1	CCDS10449.2	16																																																																																			MEIOB	-	NULL	ENSG00000162039		0.279	MEIOB-001	KNOWN	basic|CCDS	protein_coding	MEIOB	HGNC	protein_coding	OTTHUMT00000250580.1		0.00	63	0	T	NM_152764		1918176	-1	tier1		no_errors	ENST00000325962	ensembl	human	known	74_37	frame_shift_del	25.32	59	20	DEL	1.000	-
MESP2	145873	genome.wustl.edu	37	15	90320197	90320197	+	Silent	SNP	G	G	A	rs548428487		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:90320197G>A	ENST00000341735.3	+	1	609	c.609G>A	c.(607-609)ggG>ggA	p.G203G	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	203	13 X 2 AA tandem repeats of G-Q.			Missing (in Ref. 2; AAI11414). {ECO:0000305}.	mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			aggggcaagggcaggggcGCA	0.776																																																	0													3.0	6.0	5.0					15																	90320197		1661	3698	5359	SO:0001819	synonymous_variant	0				CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.609G>A	15.37:g.90320197G>A			Q7RTU2	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G203	ENST00000341735.3	37	c.609	CCDS42078.1	15																																																																																			MESP2	-	NULL	ENSG00000188095		0.776	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESP2	HGNC	protein_coding	OTTHUMT00000416421.1		0.00	12	0	G	XM_085261		90320197	+1			no_errors	ENST00000341735	ensembl	human	known	74_37	silent	58.33	5	7	SNP	0.122	A
METTL14	57721	genome.wustl.edu	37	4	119626837	119626837	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:119626837T>C	ENST00000388822.5	+	10	1094	c.927T>C	c.(925-927)gtT>gtC	p.V309V	METTL14_ENST00000506780.1_Silent_p.V271V			Q9HCE5	MET14_HUMAN	methyltransferase like 14	309					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ATGCTAATGTTGACATTGACT	0.368																																																	0													154.0	152.0	153.0					4																	119626837		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.927T>C	4.37:g.119626837T>C			A6NIG1|Q969V2	Silent	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.V309	ENST00000388822.5	37	c.927	CCDS34053.1	4																																																																																			METTL14	-	pfam_MT-A70-like,pfscan_MT-A70-like	ENSG00000145388		0.368	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL14	HGNC	protein_coding	OTTHUMT00000364034.3	-	0.00	61	0	T	NM_020961		119626837	+1	tier1	-	no_errors	ENST00000388822	ensembl	human	known	74_37	silent	10.20	44	5	SNP	0.436	C
METTL22	79091	genome.wustl.edu	37	16	8729076	8729076	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:8729076C>A	ENST00000381920.3	+	5	865	c.607C>A	c.(607-609)Ctc>Atc	p.L203I	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.L147I	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	203						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						CCGACAGGACCTCTTCCGAGG	0.627																																																	0													58.0	62.0	61.0					16																	8729076		2067	4218	6285	SO:0001583	missense	0			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.607C>A	16.37:g.8729076C>A	ENSP00000371345:p.Leu203Ile		B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.L203I	ENST00000381920.3	37	c.607	CCDS10533.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.37|15.37	2.813006|2.813006	0.50527|0.50527	.|.	.|.	ENSG00000067365|ENSG00000067365	ENST00000381920|ENST00000163678	T|T	0.06449|0.52526	3.3|0.66	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.377452|.	0.24499|.	N|.	0.037991|.	T|T	0.51126|0.51126	0.1656|0.1656	L|L	0.45051|0.45051	1.395|1.395	0.29211|0.29211	N|N	0.874602|0.874602	P|.	0.40534|.	0.72|.	B|.	0.37304|.	0.246|.	T|T	0.53809|0.53809	-0.8386|-0.8386	10|7	0.25106|0.87932	T|D	0.35|0	-14.3986|-14.3986	12.8176|12.8176	0.57675|0.57675	0.164:0.836:0.0:0.0|0.164:0.836:0.0:0.0	.|.	203|.	Q9BUU2|.	MET22_HUMAN|.	I|H	203|189	ENSP00000371345:L203I|ENSP00000163678:P189H	ENSP00000371345:L203I|ENSP00000163678:P189H	L|P	+|+	1|2	0|0	METTL22|METTL22	8636577|8636577	0.028000|0.028000	0.19301|0.19301	1.000000|1.000000	0.80357|0.80357	0.347000|0.347000	0.29111|0.29111	0.061000|0.061000	0.14366|0.14366	2.324000|2.324000	0.78689|0.78689	0.655000|0.655000	0.94253|0.94253	CTC|CCT	METTL22	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000067365		0.627	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL22	HGNC	protein_coding	OTTHUMT00000251901.1	-	0.00	39	0	C	NM_024109		8729076	+1	tier1	-	no_errors	ENST00000381920	ensembl	human	known	74_37	missense	19.44	29	7	SNP	1.000	A
METTL25	84190	genome.wustl.edu	37	12	82792803	82792803	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:82792803A>G	ENST00000248306.3	+	4	830	c.761A>G	c.(760-762)aAt>aGt	p.N254S	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	254							methyltransferase activity (GO:0008168)										AAAGTTAAAAATAAAGCTGAT	0.343																																																	0													61.0	58.0	59.0					12																	82792803		2203	4299	6502	SO:0001583	missense	0			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.761A>G	12.37:g.82792803A>G	ENSP00000248306:p.Asn254Ser		Q9H5Y3	Missense_Mutation	SNP	NULL	p.N254S	ENST00000248306.3	37	c.761	CCDS9024.1	12	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.768753	0.00645	.	.	ENSG00000127720	ENST00000248306	T	0.28895	1.59	5.39	-4.53	0.03462	.	1.374390	0.03930	N	0.285089	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.20174	-1.0283	10	0.07644	T	0.81	0.9045	4.4167	0.11459	0.3641:0.1062:0.4254:0.1043	.	254	Q8N6Q8	CL026_HUMAN	S	254	ENSP00000248306:N254S	ENSP00000248306:N254S	N	+	2	0	C12orf26	81316934	0.001000	0.12720	0.000000	0.03702	0.031000	0.12232	0.063000	0.14410	-0.708000	0.05015	0.473000	0.43528	AAT	METTL25	-	NULL	ENSG00000127720		0.343	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1		0.00	31	0	A	NM_032230		82792803	+1			no_errors	ENST00000248306	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.000	G
MFF	56947	genome.wustl.edu	37	2	228195474	228195474	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:228195474G>A	ENST00000353339.3	+	4	612	c.171G>A	c.(169-171)ccG>ccA	p.P57P	MFF_ENST00000337110.7_Silent_p.P31P|MFF_ENST00000409616.1_Silent_p.P31P|MFF_ENST00000392059.1_Silent_p.P57P|MFF_ENST00000409565.1_Silent_p.P31P|MFF_ENST00000524634.1_Intron|MFF_ENST00000304593.9_Silent_p.P31P|MFF_ENST00000354503.6_Silent_p.P31P|MFF_ENST00000349901.7_Silent_p.P31P|MFF_ENST00000476924.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	57					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAGTAGCACCGCCAAACGCTG	0.438																																																	0													97.0	83.0	88.0					2																	228195474		2203	4300	6503	SO:0001819	synonymous_variant	0			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.171G>A	2.37:g.228195474G>A			Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	pfam_FATE/Miff/Tango-11	p.P57	ENST00000353339.3	37	c.171	CCDS2465.1	2																																																																																			MFF	-	pfam_FATE/Miff/Tango-11	ENSG00000168958		0.438	MFF-001	KNOWN	basic|CCDS	protein_coding	MFF	HGNC	protein_coding	OTTHUMT00000256887.2		0.00	48	0	G	NM_020194		228195474	+1			no_errors	ENST00000353339	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.960	A
MFI2	4241	genome.wustl.edu	37	3	196737650	196737650	+	Missense_Mutation	SNP	C	C	T	rs151109969		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:196737650C>T	ENST00000296350.5	-	10	1362	c.1249G>A	c.(1249-1251)Gct>Act	p.A417T		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	417	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGGGTCACAGCGTCGACCTGC	0.667																																																	0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	43.0	43.0	43.0		1249	3.6	0.1	3	dbSNP_134	43	0,8600		0,0,4300	no	missense	MFI2	NM_005929.5	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	417/739	196737650	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1249G>A	3.37:g.196737650C>T	ENSP00000296350:p.Ala417Thr		Q9BQE2	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.A417T	ENST00000296350.5	37	c.1249	CCDS3325.1	3	.	.	.	.	.	.	.	.	.	.	C	8.371	0.835408	0.16820	2.27E-4	0.0	ENSG00000163975	ENST00000296350	T	0.51325	0.71	5.39	3.59	0.41128	.	0.292006	0.36665	N	0.002471	T	0.52741	0.1753	M	0.87971	2.92	0.09310	N	0.999992	P	0.38978	0.652	B	0.35727	0.209	T	0.50915	-0.8771	10	0.56958	D	0.05	-2.9369	13.3752	0.60734	0.0:0.8544:0.0:0.1456	.	417	P08582	TRFM_HUMAN	T	417	ENSP00000296350:A417T	ENSP00000296350:A417T	A	-	1	0	MFI2	198222047	0.981000	0.34729	0.055000	0.19348	0.017000	0.09413	3.341000	0.52151	0.270000	0.21984	-1.119000	0.02030	GCT	MFI2	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000163975		0.667	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	-	0.00	138	0	C			196737650	-1	tier1	rs151109969	no_errors	ENST00000296350	ensembl	human	known	74_37	missense	14.86	125	22	SNP	0.023	T
MFN2	9927	genome.wustl.edu	37	1	12062115	12062115	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:12062115T>A	ENST00000235329.5	+	11	1437	c.1115T>A	c.(1114-1116)gTt>gAt	p.V372D	MFN2_ENST00000444836.1_Missense_Mutation_p.V372D	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	372					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCAGAGGCGGTTCGACTCATC	0.592																																																	0													112.0	114.0	113.0					1																	12062115		2203	4300	6503	SO:0001583	missense	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1115T>A	1.37:g.12062115T>A	ENSP00000235329:p.Val372Asp		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.V372D	ENST00000235329.5	37	c.1115	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.888840	0.33348	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.96802	-4.13;-4.13	5.64	4.32	0.51571	.	0.147733	0.47852	D	0.000215	D	0.93494	0.7924	L	0.42245	1.32	0.51233	D	0.999912	B	0.32781	0.384	B	0.34385	0.181	D	0.93255	0.6638	10	0.72032	D	0.01	-24.5785	11.416	0.49951	0.0:0.0827:0.0:0.9173	.	372	O95140	MFN2_HUMAN	D	372;372;70	ENSP00000416338:V372D;ENSP00000235329:V372D	ENSP00000235329:V372D	V	+	2	0	MFN2	11984702	1.000000	0.71417	0.182000	0.23118	0.167000	0.22549	5.949000	0.70257	2.148000	0.66965	0.533000	0.62120	GTT	MFN2	-	superfamily_P-loop_NTPase	ENSG00000116688		0.592	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	-	0.00	72	0	T	NM_014874		12062115	+1	tier1	-	no_errors	ENST00000235329	ensembl	human	known	74_37	missense	28.79	47	19	SNP	0.465	A
MFSD12	126321	genome.wustl.edu	37	19	3544900	3544900	+	Missense_Mutation	SNP	G	G	T	rs368039343		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:3544900G>T	ENST00000355415.2	-	9	1496	c.1327C>A	c.(1327-1329)Cac>Aac	p.H443N	MFSD12_ENST00000389395.3_Missense_Mutation_p.H443N|MFSD12_ENST00000398558.4_Missense_Mutation_p.H443N|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	443					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						ATCGCCCAGTGGTAAAAGCTC	0.692											OREG0025153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16.0	25.0	22.0					19																	3544900		2146	4243	6389	SO:0001583	missense	0			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.1327C>A	19.37:g.3544900G>T	ENSP00000347583:p.His443Asn	612	A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.H443N	ENST00000355415.2	37	c.1327	CCDS42465.1	19	.	.	.	.	.	.	.	.	.	.	g	17.09	3.299825	0.60195	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.80033	-1.33;-1.33;-1.33	4.59	4.59	0.56863	Major facilitator superfamily domain, general substrate transporter (1);	0.050379	0.85682	D	0.000000	T	0.77336	0.4115	M	0.67953	2.075	0.49299	D	0.999777	B;P;P	0.40000	0.339;0.496;0.698	B;B;B	0.35971	0.048;0.215;0.155	T	0.76857	-0.2804	10	0.23891	T	0.37	-14.5103	16.4147	0.83730	0.0:0.0:1.0:0.0	.	443;434;443	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	N	443	ENSP00000374046:H443N;ENSP00000381566:H443N;ENSP00000347583:H443N	ENSP00000347583:H443N	H	-	1	0	C19orf28	3495900	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.712000	0.74681	2.106000	0.64143	0.486000	0.48141	CAC	MFSD12	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000161091		0.692	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MFSD12	HGNC	protein_coding	OTTHUMT00000452949.2	-	0.00	44	0	G	NM_174983		3544900	-1	tier1	-	no_errors	ENST00000398558	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	T
MFSD3	113655	genome.wustl.edu	37	8	145736024	145736024	+	Frame_Shift_Del	DEL	G	G	-	rs2306387	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145736024delG	ENST00000301327.4	+	3	1134	c.874delG	c.(874-876)gggfs	p.G293fs	RECQL4_ENST00000532237.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	293	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTTCCGCCTCGGGGGCCTAGC	0.617																																																	0													81.0	89.0	86.0					8																	145736024		2202	4299	6501	SO:0001589	frameshift_variant	0				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.874delG	8.37:g.145736024delG	ENSP00000301327:p.Gly293fs			Frame_Shift_Del	DEL	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G293fs	ENST00000301327.4	37	c.874	CCDS6431.1	8																																																																																			MFSD3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000167700		0.617	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD3	HGNC	protein_coding	OTTHUMT00000382478.2		0.00	61	0	G	NM_138431		145736024	+1	tier1		no_errors	ENST00000301327	ensembl	human	known	74_37	frame_shift_del	11.76	60	8	DEL	0.955	-
MGAT4B	11282	genome.wustl.edu	37	5	179225976	179225976	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:179225976G>A	ENST00000292591.7	-	11	1645	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	MGAT4B_ENST00000337755.5_Missense_Mutation_p.A447V|MGAT4B_ENST00000521305.1_5'Flank|MIR1229_ENST00000408467.1_RNA	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	432					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGTCCCCCGCGGCAGGGGT	0.642																																					GBM(13;414 434 4098 22176 23230)												0													89.0	89.0	89.0					5																	179225976		2203	4300	6503	SO:0001583	missense	0			AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1295C>T	5.37:g.179225976G>A	ENSP00000292591:p.Ala432Val		A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	pfam_Glyco_transf_54	p.A447V	ENST00000292591.7	37	c.1340	CCDS4448.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.440428|3.440428	0.63067|0.63067	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000337755;ENST00000292591;ENST00000519836|ENST00000520969;ENST00000518980	T;T|T	0.34072|0.60548	1.38;1.39|0.18	4.17|4.17	3.3|3.3	0.37823|0.37823	.|.	0.060230|.	0.64402|.	D|.	0.000003|.	T|T	0.65533|0.65533	0.2700|0.2700	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	B;B;D|.	0.76494|.	0.046;0.445;0.999|.	B;B;D|.	0.76071|.	0.008;0.02;0.987|.	T|T	0.68198|0.68198	-0.5472|-0.5472	10|7	0.45353|0.72032	T|D	0.12|0.01	-8.7569|-8.7569	11.9417|11.9417	0.52905|0.52905	0.0847:0.0:0.9153:0.0|0.0847:0.0:0.9153:0.0	.|.	432;447;431|.	Q9UQ53;A8MPR0;Q9UQ53-2|.	MGT4B_HUMAN;.;.|.	V|W	447;432;300|129;178	ENSP00000338487:A447V;ENSP00000292591:A432V|ENSP00000431093:R178W	ENSP00000292591:A432V|ENSP00000431093:R178W	A|R	-|-	2|1	0|2	MGAT4B|MGAT4B	179158582|179158582	1.000000|1.000000	0.71417|0.71417	0.014000|0.014000	0.15608|0.15608	0.948000|0.948000	0.59901|0.59901	9.578000|9.578000	0.98200|0.98200	0.972000|0.972000	0.38314|0.38314	0.561000|0.561000	0.74099|0.74099	GCG|CGG	MGAT4B	-	NULL	ENSG00000161013		0.642	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4B	HGNC	protein_coding	OTTHUMT00000253503.3	-	0.00	51	0	G	NM_014275		179225976	-1	tier1	-	no_errors	ENST00000337755	ensembl	human	known	74_37	missense	28.95	26	11	SNP	0.992	A
MGAT5B	146664	genome.wustl.edu	37	17	74936521	74936521	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:74936521delC	ENST00000569840.2	+	14	2196	c.1622delC	c.(1621-1623)gccfs	p.A541fs	MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.A539fs|MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.A550fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	541					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGGCCCCGCCCCCCTGGAG	0.657																																																	0													80.0	75.0	77.0					17																	74936521		2203	4300	6503	SO:0001589	frameshift_variant	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1622delC	17.37:g.74936521delC	ENSP00000456037:p.Ala541fs		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Frame_Shift_Del	DEL	superfamily_PyrdxlP-dep_Trfase	p.L552fs	ENST00000569840.2	37	c.1649	CCDS59299.1	17																																																																																			MGAT5B	-	NULL	ENSG00000167889		0.657	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2		0.00	37	0	C	NM_144677		74936521	+1			no_errors	ENST00000428789	ensembl	human	known	74_37	frame_shift_del	13.16	33	5	DEL	1.000	0
MGRN1	23295	genome.wustl.edu	37	16	4727318	4727318	+	Intron	DEL	A	A	-	rs199899105		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:4727318delA	ENST00000399577.5	+	11	1048				MGRN1_ENST00000586183.1_Intron|MGRN1_ENST00000262370.7_Intron|MGRN1_ENST00000588994.1_Intron|MGRN1_ENST00000415496.1_Intron|MGRN1_ENST00000588015.1_3'UTR	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase						endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						aaactaAAAGAAAAAAAAAAG	0.547																																																	0																																										SO:0001627	intron_variant	0			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.956-146A>-	16.37:g.4727318delA			A4URL3|A4URL4|Q86W76	RNA	DEL	-	NULL	ENST00000399577.5	37	NULL	CCDS45402.1	16																																																																																			MGRN1	-	-	ENSG00000102858		0.547	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2		0.00	19	0	A			4727318	+1	tier1		no_errors	ENST00000588015	ensembl	human	known	74_37	rna	25.93	20	7	DEL	0.002	-
MICAL1	64780	genome.wustl.edu	37	6	109767434	109767434	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:109767434G>T	ENST00000358807.3	-	19	2797	c.2486C>A	c.(2485-2487)cCt>cAt	p.P829H	MICAL1_ENST00000358577.3_Missense_Mutation_p.P743H|MICAL1_ENST00000368952.4_Missense_Mutation_p.P848H	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	829					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTTGGGTGGAGGCTCCATTTC	0.682																																																	0													42.0	48.0	46.0					6																	109767434		2203	4300	6503	SO:0001583	missense	0			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2486C>A	6.37:g.109767434G>T	ENSP00000351664:p.Pro829His		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.P848H	ENST00000358807.3	37	c.2543	CCDS5076.1	6	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564674	0.65651	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.53640	0.62;0.61;0.61	5.56	4.64	0.57946	.	0.475184	0.19760	N	0.106682	T	0.52869	0.1761	M	0.61703	1.905	0.09310	N	1	D;D;D	0.89917	0.988;1.0;0.99	P;D;P	0.69479	0.533;0.964;0.707	T	0.42207	-0.9465	10	0.49607	T	0.09	.	13.2262	0.59916	0.0:0.1739:0.8261:0.0	.	848;743;829	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	H	829;848;743;353;85	ENSP00000351664:P829H;ENSP00000357948:P848H;ENSP00000351385:P743H	ENSP00000335372:P85H	P	-	2	0	MICAL1	109874127	0.150000	0.22732	0.950000	0.38849	0.775000	0.43874	1.750000	0.38329	2.608000	0.88229	0.655000	0.94253	CCT	MICAL1	-	NULL	ENSG00000135596		0.682	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2	-	0.00	176	0	G	NM_022765		109767434	-1	tier1	-	no_errors	ENST00000368952	ensembl	human	known	74_37	missense	24.85	124	41	SNP	0.155	T
MICU3	286097	genome.wustl.edu	37	8	16948074	16948074	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:16948074A>G	ENST00000318063.5	+	8	911	c.869A>G	c.(868-870)tAc>tGc	p.Y290C		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	290						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										CTTTATGGATACCATTCTCCT	0.323																																																	0													236.0	242.0	240.0					8																	16948074		2203	4299	6502	SO:0001583	missense	0			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.869A>G	8.37:g.16948074A>G	ENSP00000321455:p.Tyr290Cys		Q8IYZ3	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.Y290C	ENST00000318063.5	37	c.869	CCDS5999.1	8	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078372	0.55753	.	.	ENSG00000155970	ENST00000318063	T	0.47177	0.85	5.1	3.87	0.44632	.	0.147945	0.46442	D	0.000294	T	0.55401	0.1918	L	0.51422	1.61	0.58432	D	0.999999	D	0.69078	0.997	P	0.59012	0.85	T	0.55958	-0.8058	10	0.46703	T	0.11	-0.998	11.7805	0.52010	0.8687:0.0:0.0:0.1313	.	290	Q86XE3	EFHA2_HUMAN	C	290	ENSP00000321455:Y290C	ENSP00000321455:Y290C	Y	+	2	0	EFHA2	16992445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.639000	0.54339	2.068000	0.61886	0.477000	0.44152	TAC	MICU3	-	NULL	ENSG00000155970		0.323	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICU3	HGNC	protein_coding	OTTHUMT00000214031.1	-	0.00	63	0	A	NM_181723		16948074	+1	tier1	-	no_errors	ENST00000318063	ensembl	human	known	74_37	missense	16.13	78	15	SNP	1.000	G
MIER2	54531	genome.wustl.edu	37	19	308584	308584	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:308584C>T	ENST00000264819.4	-	12	1201	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTGTGCGCATCCCAGTCA	0.721																																																	0													21.0	30.0	27.0					19																	308584		2195	4293	6488	SO:0001583	missense	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1191G>A	19.37:g.308584C>T	ENSP00000264819:p.Met397Ile		Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.M397I	ENST00000264819.4	37	c.1191	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	C	7.555	0.663595	0.14710	.	.	ENSG00000105556	ENST00000264819	T	0.13307	2.6	2.59	-0.891	0.10573	.	4.846750	0.00496	N	0.000141	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.29518	-1.0009	10	0.35671	T	0.21	.	5.2221	0.15373	0.0:0.5516:0.0:0.4484	.	397	Q8N344	MIER2_HUMAN	I	397	ENSP00000264819:M397I	ENSP00000264819:M397I	M	-	3	0	MIER2	259584	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.342000	0.07801	-0.107000	0.12088	0.462000	0.41574	ATG	MIER2	-	NULL	ENSG00000105556		0.721	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	-	0.00	98	0	C	XM_041843		308584	-1	tier1	-	no_errors	ENST00000264819	ensembl	human	known	74_37	missense	13.98	80	13	SNP	0.001	T
MIR1208	100302281	genome.wustl.edu	37	8	129162390	129162390	+	RNA	SNP	G	G	A	rs552306924	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:129162390G>A	ENST00000408334.1	+	0	29					NR_031613.1				microRNA 1208																		TCAGACAGGCGGAGACGGGTC	0.527													G|||	3	0.000599042	0.0	0.0043	5008	,	,		17405	0.0		0.0	False		,,,				2504	0.0																0													65.0	62.0	62.0					8																	129162390		1568	3582	5150			0					8q24.21	2011-09-12		2008-12-18	ENSG00000221261	ENSG00000221261		"""ncRNAs / Micro RNAs"""	35274	non-coding RNA	RNA, micro				MIRN1208			Standard	NR_031613		Approved	hsa-mir-1208	uc022bbk.1				8.37:g.129162390G>A				RNA	SNP	-	NULL	ENST00000408334.1	37	NULL		8																																																																																			MIR1208	-	-	ENSG00000221261		0.527	MIR1208-201	KNOWN	basic	miRNA	MIR1208	HGNC	miRNA		-	0.00	35	0	G	NR_031613		129162390	+1	tier1	-	no_errors	ENST00000408334	ensembl	human	known	74_37	rna	32.00	17	8	SNP	0.011	A
GDF5	8200	genome.wustl.edu	37	20	34041840	34041840	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:34041840G>A	ENST00000374372.1	-	1	107				CEP250_ENST00000342580.4_5'Flank|CEP250_ENST00000397527.1_5'Flank|CEP250_ENST00000397524.1_5'Flank|MIR1289-1_ENST00000408836.1_RNA			P43026	GDF5_HUMAN	growth differentiation factor 5						cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ctccacccccggtttagggat	0.443																																																	0													57.0	54.0	55.0					20																	34041840		1568	3582	5150	SO:0001627	intron_variant	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.396+621C>T	20.37:g.34041840G>A			E1P5Q2|Q96SB1	RNA	SNP	-	NULL	ENST00000374372.1	37	NULL	CCDS13254.1	20																																																																																			MIR1289-1	-	-	ENSG00000221763		0.443	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1289-1	HGNC	protein_coding	OTTHUMT00000078875.2	-	0.00	67	0	G			34041840	-1	tier1	-	no_errors	ENST00000408836	ensembl	human	known	74_37	rna	13.04	40	6	SNP	0.006	A
LIMA1	51474	genome.wustl.edu	37	12	50627995	50627997	+	Intron	DEL	TTT	TTT	-	rs530660438		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:50627995_50627997delTTT	ENST00000341247.4	-	3	269				LIMA1_ENST00000394943.3_Intron|MIR1293_ENST00000408677.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1						actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CAGAACAACCttttttttttttt	0.473																																																	0																																										SO:0001627	intron_variant	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.120-2502AAA>-	12.37:g.50628004_50628006delTTT			B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	RNA	DEL	-	NULL	ENST00000341247.4	37	NULL	CCDS8802.1	12																																																																																			MIR1293	-	-	ENSG00000221604		0.473	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	MIR1293	HGNC	protein_coding	OTTHUMT00000406235.2		0.00	64	0	TTT	NM_016357		50627997	-1	tier1		no_errors	ENST00000408677	ensembl	human	known	74_37	rna	13.56	51	8	DEL	0.541:0.545:0.544	-
TLCD2	727910	genome.wustl.edu	37	17	1615614	1615614	+	5'Flank	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:1615614A>G	ENST00000330676.6	-	0	0				MIR22HG_ENST00000362190.1_lincRNA	NM_001164407.1	NP_001157879.1	A6NGC4	TLCD2_HUMAN	TLC domain containing 2							integral component of membrane (GO:0016021)				prostate(1)	1						TATAAACATTACAGGCTGGGC	0.473																																																	0													18.0	16.0	17.0					17																	1615614		2187	4284	6471	SO:0001631	upstream_gene_variant	0				CCDS45567.1	17p13.3	2010-10-18			ENSG00000185561	ENSG00000185561			33522	protein-coding gene	gene with protein product						16793762	Standard	NM_001164407		Approved		uc021tnh.1	A6NGC4	OTTHUMG00000132477		17.37:g.1615614A>G	Exception_encountered			RNA	SNP	-	NULL	ENST00000330676.6	37	NULL	CCDS45567.1	17																																																																																			MIR22HG	-	-	ENSG00000186594		0.473	TLCD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MIR22HG	HGNC	protein_coding	OTTHUMT00000255644.4	-	0.00	46	0	A	NM_001164407		1615614	-1	tier1	-	no_errors	ENST00000334146	ensembl	human	known	74_37	rna	28.30	38	15	SNP	0.002	G
IHH	3549	genome.wustl.edu	37	2	219923425	219923425	+	Intron	SNP	C	C	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:219923425C>G	ENST00000295731.6	-	2	315				MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCTGGGGCCAGGGCCTTG	0.607																																																	0																																										SO:0001627	intron_variant	0			L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.316-1009G>C	2.37:g.219923425C>G			B9EGM5|O43322|Q8N4B9	RNA	SNP	-	NULL	ENST00000295731.6	37	NULL	CCDS33380.1	2																																																																																			MIR3131	-	-	ENSG00000264755		0.607	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3131	HGNC	protein_coding	OTTHUMT00000336408.2	-	0.00	59	0	C	NM_002181		219923425	-1	tier1	-	no_errors	ENST00000583592	ensembl	human	known	74_37	rna	26.03	54	19	SNP	0.002	G
MIR380	494329	genome.wustl.edu	37	14	101489709	101489709	+	RNA	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:101489709A>G	ENST00000362112.2	-	0	111				MIR299_ENST00000385016.2_RNA|MIR323A_ENST00000362199.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR379_ENST00000362218.3_RNA|MIR758_ENST00000390227.1_RNA|MIR411_ENST00000362239.2_RNA	NR_029872.1				microRNA 380																		TTTATCTGTGACGTATGTAAC	0.532																																																	0													135.0	119.0	124.0					14																	101489709		1568	3582	5150			0					14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101489709A>G				RNA	SNP	-	NULL	ENST00000362112.2	37	NULL		14																																																																																			MIR411	-	-	ENSG00000199109		0.532	MIR380-201	KNOWN	basic	miRNA	MIR411	HGNC	miRNA		-	0.00	47	0	A	NR_029872		101489709	+1	tier1	-	no_errors	ENST00000362239	ensembl	human	known	74_37	rna	26.42	39	14	SNP	1.000	G
MYLIP	29116	genome.wustl.edu	37	6	16141811	16141811	+	Intron	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:16141811T>C	ENST00000356840.3	+	3	476				MIR4639_ENST00000584938.1_RNA|MYLIP_ENST00000349606.4_Intron	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein						cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GAGATTGATGTCAGGTTATCC	0.398																																																	0													49.0	49.0	49.0					6																	16141811		2202	4300	6502	SO:0001627	intron_variant	0			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.279-45T>C	6.37:g.16141811T>C			Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	RNA	SNP	-	NULL	ENST00000356840.3	37	NULL	CCDS4536.1	6																																																																																			MIR4639	-	-	ENSG00000263712		0.398	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR4639	HGNC	protein_coding	OTTHUMT00000043864.1	-	0.00	24	0	T	NM_013262		16141811	+1	tier1	-	no_errors	ENST00000584938	ensembl	human	known	74_37	rna	26.67	11	4	SNP	0.000	C
C17orf49	124944	genome.wustl.edu	37	17	6921298	6921298	+	IGR	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:6921298A>G	ENST00000439424.2	+	0	850				MIR497HG_ENST00000385056.1_RNA|MIR497HG_ENST00000443997.1_RNA|RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000572453.1_RNA|MIR497HG_ENST00000385194.1_RNA	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49						chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						ACAGTGCCGTACAAACCACAG	0.632																																																	0													11.0	10.0	10.0					17																	6921298		1551	3552	5103	SO:0001628	intergenic_variant	0			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147		17.37:g.6921298A>G			B4DIV3|C9J4G0|E9PB29	RNA	SNP	-	NULL	ENST00000439424.2	37	NULL	CCDS32542.1	17																																																																																			MIR497HG	-	-	ENSG00000267532		0.632	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR497HG	HGNC	protein_coding	OTTHUMT00000407666.1	-	0.00	49	0	A	NM_174893		6921298	-1	tier1	-	no_errors	ENST00000385056	ensembl	human	known	74_37	rna	31.03	20	9	SNP	1.000	G
MIR503HG	84848	genome.wustl.edu	37	X	133680601	133680601	+	lincRNA	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:133680601G>A	ENST00000362227.1	-	0	196				MIR503_ENST00000385270.1_RNA	NR_029946.1				MIR503 host gene (non-protein coding)																		AGCCGGCCTCGCGGGGAGCGG	0.682																																																	0													13.0	14.0	14.0					X																	133680601		1563	3576	5139			0					Xq26.3	2014-07-18			ENSG00000223749	ENSG00000223749		"""-"""	28258	non-coding RNA	RNA, long non-coding	"""H19 X-linked co-expressed lncRNA"""					24463510	Standard	NR_024607		Approved	MGC16121, H19X			OTTHUMG00000022455		X.37:g.133680601G>A				RNA	SNP	-	NULL	ENST00000362227.1	37	NULL		X																																																																																			MIR503HG	-	-	ENSG00000223749		0.682	MIR503HG-201	KNOWN	basic	miRNA	MIR503HG	HGNC	lincRNA		-	0.00	88	0	G	NR_024607		133680601	-1	tier1	-	no_errors	ENST00000414769	ensembl	human	known	74_37	rna	16.98	44	9	SNP	0.000	A
MED13L	23389	genome.wustl.edu	37	12	116586414	116586415	+	Intron	INS	-	-	TA	rs556083996|rs10549054|rs3043743|rs77703604|rs140957424|rs370738530|rs368602518|rs113328518	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:116586414_116586415insTA	ENST00000281928.3	-	3	517				MED13L_ENST00000551197.1_Intron|MIR620_ENST00000385232.1_RNA	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		atggagatatctatatatatat	0.248																																																	0																																										SO:0001627	intron_variant	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.311-37097->TA	12.37:g.116586423_116586424dupTA			A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	RNA	INS	-	NULL	ENST00000281928.3	37	NULL	CCDS9177.1	12																																																																																			MIR620	-	-	ENSG00000207967		0.248	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR620	HGNC	protein_coding	OTTHUMT00000403879.3		0.00	73	0	-			116586415	-1	tier1		no_errors	ENST00000385232	ensembl	human	known	74_37	rna	13.79	50	8	INS	0.000:0.000	TA
DAPK3	1613	genome.wustl.edu	37	19	3961429	3961429	+	Intron	SNP	G	G	A	rs543903246		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:3961429G>A	ENST00000545797.2	-	7	873				DAPK3_ENST00000301264.3_Intron|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGCAGACGCAGAGCCCGA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		16739	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.630-270C>T	19.37:g.3961429G>A			A0AVN4|B3KQE2|Q05JY4	RNA	SNP	-	NULL	ENST00000545797.2	37	NULL	CCDS12116.1	19																																																																																			MIR637	-	-	ENSG00000207733		0.582	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR637	HGNC	protein_coding	OTTHUMT00000457817.2	-	0.00	97	0	G	NM_001348		3961429	-1	tier1	-	no_errors	ENST00000385000	ensembl	human	known	74_37	rna	5.10	93	5	SNP	0.000	A
MIR380	494329	genome.wustl.edu	37	14	101492444	101492444	+	RNA	DEL	C	C	-	rs571084935		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:101492444delC	ENST00000362112.2	-	0	0				MIR299_ENST00000385016.2_RNA|MIR323A_ENST00000362199.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR329-1_ENST00000385028.1_RNA|MIR758_ENST00000390227.1_RNA|MIR411_ENST00000362239.2_RNA	NR_029872.1				microRNA 380																		GTATCTAATGCCCCCTTGGAG	0.507																																																	0													137.0	127.0	130.0					14																	101492444		1568	3582	5150			0					14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101492444delC				RNA	DEL	-	NULL	ENST00000362112.2	37	NULL		14																																																																																			MIR758	-	-	ENSG00000211582		0.507	MIR380-201	KNOWN	basic	miRNA	MIR758	HGNC	miRNA			0.00	47	0	C	NR_029872		101492444	+1	tier1		no_errors	ENST00000390227	ensembl	human	known	74_37	rna	30.77	27	12	DEL	0.000	-
NIFK	84365	genome.wustl.edu	37	2	122486069	122486069	+	Missense_Mutation	SNP	G	G	A	rs377016579		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:122486069G>A	ENST00000285814.4	-	5	680	c.608C>T	c.(607-609)aCg>aTg	p.T203M	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		203					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TTTTGTAGACGTCTGACGATT	0.289																																																	0								G	MET/THR	0,4406		0,0,2203	54.0	55.0	55.0		608	-4.0	0.0	2		55	1,8579	1.2+/-3.3	0,1,4289	no	missense	MKI67IP	NM_032390.4	81	0,1,6492	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	203/294	122486069	1,12985	2203	4290	6493	SO:0001583	missense	0																														ENST00000285814.4:c.608C>T	2.37:g.122486069G>A	ENSP00000285814:p.Thr203Met		A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T203M	ENST00000285814.4	37	c.608	CCDS2135.1	2	.	.	.	.	.	.	.	.	.	.	G	4.324	0.059479	0.08339	0.0	1.17E-4	ENSG00000155438	ENST00000285814;ENST00000447132	T;T	0.46063	2.33;0.88	3.54	-4.04	0.04010	.	2.675740	0.01121	N	0.005791	T	0.19805	0.0476	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.08249	-1.0731	10	0.45353	T	0.12	0.0256	1.0325	0.01541	0.2975:0.0981:0.3166:0.2878	.	203	Q9BYG3	MK67I_HUMAN	M	203;98	ENSP00000285814:T203M;ENSP00000406227:T98M	ENSP00000285814:T203M	T	-	2	0	MKI67IP	122202539	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.259000	0.08721	-0.768000	0.04626	-2.614000	0.00158	ACG	MKI67IP	-	NULL	ENSG00000155438		0.289	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKI67IP	HGNC	protein_coding	OTTHUMT00000254239.2	-	0.00	42	0	G			122486069	-1	tier1	-	no_errors	ENST00000285814	ensembl	human	known	74_37	missense	34.00	33	17	SNP	0.000	A
MKL2	57496	genome.wustl.edu	37	16	14346300	14346300	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:14346300delC	ENST00000341243.5	+	13	2611	c.2611delC	c.(2611-2613)cccfs	p.P872fs	MKL2_ENST00000318282.5_Frame_Shift_Del_p.P833fs|MKL2_ENST00000571589.1_Frame_Shift_Del_p.P883fs|MKL2_ENST00000574045.1_Frame_Shift_Del_p.P833fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	872					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACAAAAGATCCCCCCCGCTA	0.562																																																	0													78.0	79.0	79.0					16																	14346300		2197	4300	6497	SO:0001589	frameshift_variant	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2611delC	16.37:g.14346300delC	ENSP00000345841:p.Pro872fs		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Del	DEL	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.R873fs	ENST00000341243.5	37	c.2611		16																																																																																			MKL2	-	NULL	ENSG00000186260		0.562	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding			0.00	50	0	C	NM_014048		14346300	+1	tier1		no_errors	ENST00000341243	ensembl	human	known	74_37	frame_shift_del	14.29	36	6	DEL	1.000	-
MKLN1	4289	genome.wustl.edu	37	7	131172537	131172538	+	3'UTR	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:131172537_131172538insT	ENST00000352689.6	+	0	2298_2299				MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs						signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GATTTTCCGTCTTTTGGATTGC	0.46																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.*51->T	7.37:g.131172541_131172541dupT			A4D1M8|A6NG43|Q9NSK4|Q9NUS8	RNA	INS	-	NULL	ENST00000352689.6	37	NULL	CCDS34754.1	7																																																																																			MKLN1	-	-	ENSG00000128585		0.460	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	HGNC	protein_coding	OTTHUMT00000337473.4		0.00	61	0	-	NM_013255		131172538	+1	tier1		no_errors	ENST00000498778	ensembl	human	known	74_37	rna	11.43	31	4	INS	0.734:0.731	T
MLLT4	4301	genome.wustl.edu	37	6	168347574	168347574	+	Silent	SNP	C	C	T	rs367706314		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:168347574C>T	ENST00000447894.2	+	26	3525	c.3525C>T	c.(3523-3525)aaC>aaT	p.N1175N	MLLT4_ENST00000392108.3_Silent_p.N1175N|MLLT4_ENST00000392112.1_Silent_p.N1158N|MLLT4_ENST00000351017.4_Silent_p.N1182N|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000366806.2_Silent_p.N1175N|MLLT4_ENST00000400822.3_Silent_p.N1174N|MLLT4_ENST00000344191.4_Silent_p.N1175N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1175					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCAGCCCCAACGTAGCAAGTA	0.418			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0								C	,	0,4406		0,0,2203	90.0	88.0	88.0		3525,3474	-2.9	0.9	6		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MLLT4	NM_001040000.2,NM_001207008.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	1175/1652,1158/1744	168347574	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3525C>T	6.37:g.168347574C>T			O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.N1175	ENST00000447894.2	37	c.3525		6																																																																																			MLLT4	-	NULL	ENSG00000130396		0.418	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	-	0.00	63	0	C	NM_005936		168347574	+1	tier1	-	no_errors	ENST00000366806	ensembl	human	known	74_37	silent	7.04	66	5	SNP	0.944	T
MLXIP	22877	genome.wustl.edu	37	12	122618567	122618567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:122618567delC	ENST00000377037.2	+	2	535	c.535delC	c.(535-537)cccfs	p.P180fs	MLXIP_ENST00000538698.1_Intron|MLXIP_ENST00000319080.7_Intron					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GTGCGGGGCTCCCCCCGACCC	0.587																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0													7.0	8.0	8.0					12																	122618567		1915	4098	6013	SO:0001589	frameshift_variant	0			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000377037.2:c.535delC	12.37:g.122618567delC	ENSP00000366236:p.Pro180fs			Frame_Shift_Del	DEL	NULL	p.D181fs	ENST00000377037.2	37	c.535		12																																																																																			MLXIP	-	NULL	ENSG00000175727		0.587	MLXIP-201	KNOWN	basic	protein_coding	MLXIP	HGNC	protein_coding			0.00	60	0	C	NM_014938		122618567	+1	tier1		no_errors	ENST00000377037	ensembl	human	known	74_37	frame_shift_del	15.56	38	7	DEL	0.000	-
MMP8	4317	genome.wustl.edu	37	11	102586163	102586163	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:102586163A>T	ENST00000236826.3	-	7	1006	c.908T>A	c.(907-909)tTc>tAc	p.F303Y		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	303					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	CCTTCTCCAGAAGTACCTAAC	0.413																																																	0													97.0	87.0	91.0					11																	102586163		2203	4299	6502	SO:0001583	missense	0			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.908T>A	11.37:g.102586163A>T	ENSP00000236826:p.Phe303Tyr		Q45F99	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.F303Y	ENST00000236826.3	37	c.908	CCDS8320.1	11	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587810	0.46110	.	.	ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942	T	0.01246	5.11	5.47	5.47	0.80525	Hemopexin/matrixin (2);	0.105080	0.42682	D	0.000673	T	0.02494	0.0076	L	0.49640	1.575	0.34488	D	0.704676	B;B;B	0.27853	0.191;0.001;0.007	B;B;B	0.30716	0.074;0.013;0.119	T	0.44847	-0.9301	10	0.36615	T	0.2	.	15.2632	0.73640	1.0:0.0:0.0:0.0	.	303;238;303	A8K9E4;F5GXB5;P22894	.;.;MMP8_HUMAN	Y	303;280;238	ENSP00000236826:F303Y	ENSP00000236826:F303Y	F	-	2	0	MMP8	102091373	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.716000	0.61916	2.078000	0.62432	0.528000	0.53228	TTC	MMP8	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans	ENSG00000118113		0.413	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP8	HGNC	protein_coding	OTTHUMT00000395223.1	-	0.00	29	0	A	NM_002424		102586163	-1	tier1	-	no_errors	ENST00000236826	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
MMP1	4312	genome.wustl.edu	37	11	102666262	102666262	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:102666262A>G	ENST00000315274.6	-	5	769	c.702T>C	c.(700-702)gcT>gcC	p.A234A	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	234	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GGTACATCAAAGCCCCGATAT	0.433																																																	0													85.0	76.0	79.0					11																	102666262		2203	4299	6502	SO:0001819	synonymous_variant	0			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.702T>C	11.37:g.102666262A>G			P08156	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.A234	ENST00000315274.6	37	c.702	CCDS8322.1	11																																																																																			MMP1	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	ENSG00000196611		0.433	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	-	0.00	50	0	A	NM_002421		102666262	-1	tier1	-	no_errors	ENST00000315274	ensembl	human	known	74_37	silent	28.26	33	13	SNP	0.933	G
MMP9	4318	genome.wustl.edu	37	20	44640819	44640819	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:44640819C>T	ENST00000372330.3	+	7	1060	c.1041C>T	c.(1039-1041)tgC>tgT	p.C347C	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	347	Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GGGAGCTGTGCGTCTTCCCCT	0.607																																																	0													63.0	71.0	69.0					20																	44640819		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1041C>T	20.37:g.44640819C>T			B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.C347	ENST00000372330.3	37	c.1041	CCDS13390.1	20																																																																																			MMP9	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000100985		0.607	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	-	0.00	41	0	C			44640819	+1	tier1	-	no_errors	ENST00000372330	ensembl	human	known	74_37	silent	27.03	26	10	SNP	0.998	T
MMS22L	253714	genome.wustl.edu	37	6	97676826	97676826	+	Silent	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:97676826T>A	ENST00000275053.4	-	14	2248	c.1983A>T	c.(1981-1983)cgA>cgT	p.R661R	MMS22L_ENST00000369251.2_Silent_p.R621R	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	661					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTCAGATTCTCGACATGCTC	0.378																																																	0													100.0	98.0	99.0					6																	97676826		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1983A>T	6.37:g.97676826T>A			D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	superfamily_ARM-type_fold	p.R661	ENST00000275053.4	37	c.1983	CCDS5039.1	6																																																																																			MMS22L	-	NULL	ENSG00000146263		0.378	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	-	0.00	42	0	T	NM_198468		97676826	-1	tier1	-	no_errors	ENST00000275053	ensembl	human	known	74_37	silent	16.00	42	8	SNP	0.997	A
MOB1A	55233	genome.wustl.edu	37	2	74392409	74392409	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:74392409A>G	ENST00000396049.4	-	4	538	c.345T>C	c.(343-345)atT>atC	p.I115I	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Silent_p.I115I	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	115					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)										TCAAATAGTCAATGTATTTTG	0.308																																																	0													64.0	62.0	62.0					2																	74392409		1837	4080	5917	SO:0001819	synonymous_variant	0				CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"""MOB kinase activators"""	16015	protein-coding gene	gene with protein product		609281	"""chromosome 2 open reading frame 6"", ""MOB1, Mps One Binder kinase activator-like 1B (yeast)"", ""MOB1 Mps One Binder homolog A (yeast)"""	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.345T>C	2.37:g.74392409A>G			Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.I115	ENST00000396049.4	37	c.345	CCDS46340.1	2																																																																																			MOB1A	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000114978		0.308	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1A	HGNC	protein_coding	OTTHUMT00000328200.2	-	0.00	73	0	A	NM_018221		74392409	-1	tier1	-	no_errors	ENST00000396049	ensembl	human	known	74_37	silent	33.33	32	16	SNP	1.000	G
MOCS2	4338	genome.wustl.edu	37	5	52394449	52394449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:52394449delA	ENST00000396954.3	-	7	1227	c.550delT	c.(550-552)tggfs	p.W184fs	MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				TTGGATGCCCAAAAGCACTCT	0.299																																																	0																																										SO:0001589	frameshift_variant	0			AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.550delT	5.37:g.52394449delA	ENSP00000380157:p.Trp184fs			Frame_Shift_Del	DEL	pfam_Mopterin_biosynth_MoaE,superfamily_Mopterin_biosynth_MoaE	p.W184fs	ENST00000396954.3	37	c.550	CCDS3958.1	5																																																																																			MOCS2	-	superfamily_Mopterin_biosynth_MoaE	ENSG00000164172		0.299	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MOCS2	HGNC	protein_coding	OTTHUMT00000214053.3		0.00	50	0	A	NM_183418		52394449	-1	tier1		no_errors	ENST00000396954	ensembl	human	known	74_37	frame_shift_del	21.74	54	15	DEL	1.000	-
MORC1	27136	genome.wustl.edu	37	3	108773580	108773580	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:108773580C>T	ENST00000483760.1	-	14	1368	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	MORC1_ENST00000232603.5_Missense_Mutation_p.G442D					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCACTGATGCCGGTGTCCTT	0.373																																																	0													165.0	158.0	161.0					3																	108773580		2203	4300	6503	SO:0001583	missense	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1325G>A	3.37:g.108773580C>T	ENSP00000417282:p.Gly442Asp			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.G442D	ENST00000483760.1	37	c.1325		3	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317947	0.60524	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05786	3.4;3.39	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000092	T	0.16385	0.0394	M	0.62723	1.935	0.40469	D	0.980329	D;P	0.65815	0.995;0.791	P;B	0.58660	0.843;0.412	T	0.00357	-1.1792	10	0.37606	T	0.19	-5.0104	11.6626	0.51356	0.0:0.8214:0.1786:0.0	.	442;442	E7ERX1;Q86VD1	.;MORC1_HUMAN	D	442	ENSP00000232603:G442D;ENSP00000417282:G442D	ENSP00000232603:G442D	G	-	2	0	MORC1	110256270	0.601000	0.26907	0.985000	0.45067	0.979000	0.70002	2.183000	0.42565	2.638000	0.89438	0.650000	0.86243	GGC	MORC1	-	NULL	ENSG00000114487		0.373	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	-	0.00	48	0	C			108773580	-1	tier1	-	no_errors	ENST00000232603	ensembl	human	known	74_37	missense	18.37	40	9	SNP	0.909	T
MORC1	27136	genome.wustl.edu	37	3	108812346	108812346	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:108812346C>A	ENST00000483760.1	-	8	669	c.626G>T	c.(625-627)gGa>gTa	p.G209V	MORC1_ENST00000232603.5_Missense_Mutation_p.G209V					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCTGGTTCTCCATTAAGCAG	0.358																																																	0													135.0	127.0	130.0					3																	108812346		2203	4300	6503	SO:0001583	missense	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.626G>T	3.37:g.108812346C>A	ENSP00000417282:p.Gly209Val			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.G209V	ENST00000483760.1	37	c.626		3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467964	0.84533	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.71103	-0.54;-0.54	4.85	4.85	0.62838	ATPase-like, ATP-binding domain (1);	0.000000	0.45361	D	0.000377	D	0.86997	0.6068	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;0.969	D;P	0.87578	0.998;0.876	D	0.89698	0.3903	10	0.72032	D	0.01	-24.9337	15.5477	0.76118	0.0:1.0:0.0:0.0	.	209;209	E7ERX1;Q86VD1	.;MORC1_HUMAN	V	209	ENSP00000232603:G209V;ENSP00000417282:G209V	ENSP00000232603:G209V	G	-	2	0	MORC1	110295036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.475000	0.73582	2.532000	0.85374	0.650000	0.86243	GGA	MORC1	-	superfamily_HATPase_ATP-bd	ENSG00000114487		0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	-	0.00	39	0	C			108812346	-1	tier1	-	no_errors	ENST00000232603	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	A
MOSPD1	56180	genome.wustl.edu	37	X	134033227	134033228	+	Intron	DEL	TT	TT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:134033227_134033228delTT	ENST00000370783.3	-	3	341				MOSPD1_ENST00000370777.1_Intron|MOSPD1_ENST00000370779.4_Intron|MOSPD1_ENST00000491609.1_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					GCCATTAGTGTTTTTTTTTTTT	0.351																																																	0																																										SO:0001627	intron_variant	0			Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.155-32AA>-	X.37:g.134033237_134033238delTT			B2RE62|D3DTG5|Q5H9C5|Q5H9C7	RNA	DEL	-	NULL	ENST00000370783.3	37	NULL	CCDS14645.1	X																																																																																			MOSPD1	-	-	ENSG00000101928		0.351	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MOSPD1	HGNC	protein_coding	OTTHUMT00000085439.1		0.00	78	0	TT	NM_019556		134033228	-1	tier1		no_errors	ENST00000462060	ensembl	human	known	74_37	rna	31.25	33	15	DEL	0.001:0.000	-
MPND	84954	genome.wustl.edu	37	19	4357332	4357332	+	Missense_Mutation	SNP	T	T	C	rs375908042		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4357332T>C	ENST00000262966.8	+	9	1146	c.1079T>C	c.(1078-1080)cTg>cCg	p.L360P	MPND_ENST00000599840.1_Missense_Mutation_p.L360P|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.L310P	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	360	MPN.						peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCATCTCTGCAGGACATC	0.667																																																	0								T	PRO/LEU,PRO/LEU	0,4062		0,0,2031	23.0	25.0	24.0		929,1079	3.7	1.0	19		24	1,8395		0,1,4197	no	missense,missense	MPND	NM_001159846.1,NM_032868.4	98,98	0,1,6228	CC,CT,TT		0.0119,0.0,0.0080	probably-damaging,probably-damaging	310/452,360/472	4357332	1,12457	2031	4198	6229	SO:0001583	missense	0				CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1079T>C	19.37:g.4357332T>C	ENSP00000262966:p.Leu360Pro		Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	pfam_JAB_MPN_dom	p.L360P	ENST00000262966.8	37	c.1079	CCDS42470.1	19	.	.	.	.	.	.	.	.	.	.	t	14.45	2.540334	0.45176	0.0	1.19E-4	ENSG00000008382	ENST00000262966;ENST00000359935	T;T	0.53423	0.62;0.62	3.67	3.67	0.42095	.	0.000000	0.64402	U	0.000004	T	0.61400	0.2344	L	0.58354	1.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.996	T	0.62515	-0.6838	10	0.52906	T	0.07	-16.3475	10.5622	0.45152	0.0:0.0:0.0:1.0	.	310;360;360	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	P	360;310	ENSP00000262966:L360P;ENSP00000353015:L310P	ENSP00000262966:L360P	L	+	2	0	MPND	4308332	1.000000	0.71417	0.951000	0.38953	0.201000	0.24016	6.888000	0.75622	1.664000	0.50801	0.379000	0.24179	CTG	MPND	-	pfam_JAB_MPN_dom	ENSG00000008382		0.667	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MPND	HGNC	protein_coding	OTTHUMT00000458292.1		0.00	58	0	T	NM_032868		4357332	+1			no_errors	ENST00000262966	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	C
MPP5	64398	genome.wustl.edu	37	14	67787969	67787969	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:67787969G>A	ENST00000261681.4	+	13	2394	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.R544H	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	578	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTAAGTCTTCGTACACAGGTA	0.368																																																	0													131.0	130.0	130.0					14																	67787969		2203	4300	6503	SO:0001583	missense	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1733G>A	14.37:g.67787969G>A	ENSP00000261681:p.Arg578His		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R578H	ENST00000261681.4	37	c.1733	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	7.022	0.558806	0.13436	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.41758	0.99;0.99	5.14	3.28	0.37604	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.052254	0.85682	D	0.000000	T	0.07503	0.0189	N	0.00174	-1.93	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41734	-0.9492	10	0.02654	T	1	.	5.3934	0.16257	0.3483:0.0:0.6517:0.0	.	578	Q8N3R9	MPP5_HUMAN	H	578;544	ENSP00000261681:R578H;ENSP00000451488:R544H	ENSP00000261681:R578H	R	+	2	0	MPP5	66857722	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.257000	0.78362	2.364000	0.80123	0.563000	0.77884	CGT	MPP5	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000072415		0.368	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	-	0.00	52	0	G	NM_022474		67787969	+1	tier1	-	no_errors	ENST00000261681	ensembl	human	known	74_37	missense	20.59	54	14	SNP	1.000	A
MPP6	51678	genome.wustl.edu	37	7	24718836	24718836	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:24718836G>T	ENST00000222644.5	+	10	1451	c.1201G>T	c.(1201-1203)Gct>Tct	p.A401S	MPP6_ENST00000396475.2_Missense_Mutation_p.A401S|MPP6_ENST00000409761.1_Missense_Mutation_p.A289S			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AGATATTAAAGCTGGAAAGTA	0.378																																																	0													125.0	119.0	121.0					7																	24718836		2203	4300	6503	SO:0001583	missense	0			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1201G>T	7.37:g.24718836G>T	ENSP00000222644:p.Ala401Ser		B2RAF0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.A401S	ENST00000222644.5	37	c.1201	CCDS5388.1	7	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275953	0.59649	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	T;T;T	0.16897	2.31;2.31;2.31	5.97	5.97	0.96955	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.53938	D	0.000054	T	0.19248	0.0462	L	0.37507	1.11	0.58432	D	0.999999	B	0.28258	0.205	B	0.35971	0.215	T	0.05971	-1.0853	10	0.10636	T	0.68	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	401	Q9NZW5	MPP6_HUMAN	S	401;289;401	ENSP00000222644:A401S;ENSP00000386262:A289S;ENSP00000379737:A401S	ENSP00000222644:A401S	A	+	1	0	MPP6	24685361	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.863000	0.87023	2.837000	0.97791	0.655000	0.94253	GCT	MPP6	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000105926		0.378	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP6	HGNC	protein_coding	OTTHUMT00000250272.4	-	0.00	77	0	G			24718836	+1	tier1	-	no_errors	ENST00000222644	ensembl	human	known	74_37	missense	11.49	77	10	SNP	1.000	T
MPPED1	758	genome.wustl.edu	37	22	43870648	43870648	+	Missense_Mutation	SNP	G	G	A	rs530556930		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:43870648G>A	ENST00000417669.2	+	4	883	c.439G>A	c.(439-441)Gca>Aca	p.A147T	MPPED1_ENST00000542779.1_Missense_Mutation_p.A147T|MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000443721.1_Missense_Mutation_p.A147T|MPPED1_ENST00000538182.1_Missense_Mutation_p.A180T|MPPED1_ENST00000414469.2_Missense_Mutation_p.A41T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	147							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GATCGTGATCGCAGGCAACCA	0.567																																																	0													128.0	130.0	130.0					22																	43870648		2114	4245	6359	SO:0001583	missense	0			U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.439G>A	22.37:g.43870648G>A	ENSP00000388137:p.Ala147Thr		A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	pfam_PEstase_dom	p.A180T	ENST00000417669.2	37	c.538	CCDS46723.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.399282	0.96030	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000542779;ENST00000538182	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.08	5.08	0.68730	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.92763	0.7699	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93528	0.6867	10	0.66056	D	0.02	-38.2618	18.5263	0.90974	0.0:0.0:1.0:0.0	.	180;147	B7Z2S9;O15442	.;MPPD1_HUMAN	T	147;147;125;41;147;180	ENSP00000388137:A147T;ENSP00000400686:A147T;ENSP00000388245:A41T;ENSP00000444532:A147T;ENSP00000438335:A180T	ENSP00000388245:A41T	A	+	1	0	MPPED1	42200592	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.457000	0.97630	2.365000	0.80145	0.551000	0.68910	GCA	MPPED1	-	pfam_PEstase_dom	ENSG00000186732		0.567	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED1	HGNC	protein_coding	OTTHUMT00000318938.2	-	0.00	39	0	G	NM_001044370		43870648	+1	tier1	-	no_errors	ENST00000538182	ensembl	human	known	74_37	missense	41.67	14	10	SNP	1.000	A
MPV17L2	84769	genome.wustl.edu	37	19	18305819	18305819	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:18305819delC	ENST00000599612.2	+	4	587	c.487delC	c.(487-489)cccfs	p.P164fs		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	164						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						CCTCTTCGTGCCCCCCCAATT	0.652																																																	0													114.0	114.0	114.0					19																	18305819		2081	4206	6287	SO:0001589	frameshift_variant	0			AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.487delC	19.37:g.18305819delC	ENSP00000469836:p.Pro164fs		Q96P34|Q96QA0|Q9BSG4	Frame_Shift_Del	DEL	pfam_Mpv17_PMP22	p.Q165fs	ENST00000599612.2	37	c.487	CCDS42522.1	19																																																																																			MPV17L2	-	pfam_Mpv17_PMP22	ENSG00000254858		0.652	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPV17L2	HGNC	protein_coding	OTTHUMT00000466294.2		0.00	90	0	C	NM_032683		18305819	+1			no_errors	ENST00000599612	ensembl	human	known	74_37	frame_shift_del	9.52	76	8	DEL	1.000	0
MRGPRX3	117195	genome.wustl.edu	37	11	18159395	18159395	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:18159395G>A	ENST00000396275.2	+	3	1007	c.646G>A	c.(646-648)Gtg>Atg	p.V216M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAGGCTGTACGTGACCATCCT	0.557																																																	0													114.0	107.0	110.0					11																	18159395		2200	4293	6493	SO:0001583	missense	0				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.646G>A	11.37:g.18159395G>A	ENSP00000379571:p.Val216Met		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V216M	ENST00000396275.2	37	c.646	CCDS7830.1	11	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078490	0.55753	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.38077	1.16;1.16	1.46	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	1.272850	0.05298	N	0.522521	T	0.63896	0.2550	M	0.89163	3.01	0.26476	N	0.975183	D	0.71674	0.998	D	0.66497	0.944	T	0.42531	-0.9446	10	0.72032	D	0.01	.	8.8001	0.34903	0.0:0.0:1.0:0.0	.	216	Q96LB0	MRGX3_HUMAN	M	216	ENSP00000379571:V216M;ENSP00000436242:V216M	ENSP00000379571:V216M	V	+	1	0	MRGPRX3	18115971	0.000000	0.05858	0.982000	0.44146	0.095000	0.18619	-0.619000	0.05572	1.108000	0.41662	0.430000	0.28490	GTG	MRGPRX3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179826		0.557	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	HGNC	protein_coding	OTTHUMT00000389767.1	-	0.00	69	0	G	NM_054031		18159395	+1	tier1	-	no_errors	ENST00000396275	ensembl	human	known	74_37	missense	19.35	50	12	SNP	0.999	A
MRGPRX1	259249	genome.wustl.edu	37	11	18956334	18956334	+	5'UTR	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:18956334T>C	ENST00000302797.3	-	0	222				MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1						acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGATCCATGCTCAGAAACCCT	0.502																																																	0													231.0	221.0	224.0					11																	18956334		2194	4285	6479	SO:0001623	5_prime_UTR_variant	0				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.-3A>G	11.37:g.18956334T>C			Q4V9L2|Q8TDD8|Q8TDD9	RNA	SNP	-	NULL	ENST00000302797.3	37	NULL	CCDS7846.1	11																																																																																			MRGPRX1	-	-	ENSG00000170255		0.502	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	-	0.00	107	0	T	NM_147199		18956334	-1	tier1	-	no_errors	ENST00000526914	ensembl	human	putative	74_37	rna	29.91	74	32	SNP	0.002	C
MRI1	84245	genome.wustl.edu	37	19	13879210	13879210	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:13879210A>G	ENST00000319545.8	+	3	466	c.409A>G	c.(409-411)Acc>Gcc	p.T137A	MRI1_ENST00000040663.6_Intron	NM_032285.2	NP_115661.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						ggaagagcataccaggcagag	0.562																																																	0													42.0	38.0	40.0					19																	13879210		2110	4091	6201	SO:0001583	missense	0				CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"""mediator of RhoA-dependent invasion"", ""S-methyl-5-thioribose-1-phosphate isomerase 1"""	615105	"""methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"""			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000319545.8:c.409A>G	19.37:g.13879210A>G	ENSP00000314871:p.Thr137Ala			Missense_Mutation	SNP	pfam_IF-2B-related,tigrfam_Initiation_fac_2B_a/b/d	p.T137A	ENST00000319545.8	37	c.409	CCDS12297.1	19	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.694638	0.00731	.	.	ENSG00000037757	ENST00000319545	T	0.28454	1.61	0.952	0.952	0.19584	.	.	.	.	.	T	0.39253	0.1071	.	.	.	0.09310	N	0.999997	P	0.49696	0.927	P	0.56563	0.801	T	0.17992	-1.0351	8	0.66056	D	0.02	.	4.1303	0.10146	1.0:0.0:0.0:0.0	.	137	Q9BV20-2	.	A	137	ENSP00000314871:T137A	ENSP00000314871:T137A	T	+	1	0	MRI1	13740210	0.000000	0.05858	0.006000	0.13384	0.038000	0.13279	-1.419000	0.02460	0.662000	0.31006	0.358000	0.22013	ACC	MRI1	-	NULL	ENSG00000037757		0.562	MRI1-001	KNOWN	basic|CCDS	protein_coding	MRI1	HGNC	protein_coding	OTTHUMT00000453422.1	-	0.00	60	0	A	NM_032285		13879210	+1	tier1	-	no_errors	ENST00000319545	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.006	G
MROH2B	133558	genome.wustl.edu	37	5	41038980	41038981	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:41038980_41038981insA	ENST00000399564.4	-	21	2521_2522	c.2071_2072insT	c.(2071-2073)tctfs	p.S691fs	MROH2B_ENST00000506092.2_Frame_Shift_Ins_p.S246fs	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	691																	CTTTTTCCCAGAAAAAAGGCTC	0.436																																																	0																																										SO:0001589	frameshift_variant	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2072dupT	5.37:g.41038986_41038986dupA	ENSP00000382476:p.Ser691fs		Q68DM1|Q7Z4U4|Q8N7X3	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.S691fs	ENST00000399564.4	37	c.2072_2071	CCDS47202.1	5																																																																																			MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.436	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2		0.00	23	0	-	NM_173489		41038981	-1	tier1		no_errors	ENST00000399564	ensembl	human	known	74_37	frame_shift_ins	27.27	16	6	INS	0.999:0.999	A
MROH7	374977	genome.wustl.edu	37	1	55118660	55118660	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:55118660delC	ENST00000421030.2	+	3	346	c.61delC	c.(61-63)cccfs	p.P22fs	MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Frame_Shift_Del_p.P22fs|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Frame_Shift_Del_p.P22fs|MROH7-TTC4_ENST00000414150.2_Frame_Shift_Del_p.P22fs|MROH7_ENST00000545244.1_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	22						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GACACCAAGTCCCCCCTCCTG	0.597																																																	0													59.0	59.0	59.0					1																	55118660		1907	4108	6015	SO:0001589	frameshift_variant	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.61delC	1.37:g.55118660delC	ENSP00000396622:p.Pro22fs		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.S23fs	ENST00000421030.2	37	c.61	CCDS41342.2	1																																																																																			MROH7-TTC4	-	NULL	ENSG00000271723		0.597	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1		0.00	28	0	C	NM_198547		55118660	+1	tier1		no_errors	ENST00000414150	ensembl	human	known	74_37	frame_shift_del	20.00	24	6	DEL	0.001	-
MRPL37	51253	genome.wustl.edu	37	1	54670828	54670828	+	Missense_Mutation	SNP	C	C	T	rs201357587		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:54670828C>T	ENST00000360840.5	+	2	561	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	MRPL37_ENST00000336230.6_Intron|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000605337.1_Missense_Mutation_p.R162C	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	162					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CTCTCACGCCCGTCTCTGGCA	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19076	0.0		0.0	False		,,,				2504	0.0																0													98.0	94.0	95.0					1																	54670828		2203	4300	6503	SO:0001583	missense	0			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.484C>T	1.37:g.54670828C>T	ENSP00000354086:p.Arg162Cys		Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	pfam_Ribosomal_L37/S30	p.R162C	ENST00000360840.5	37	c.484	CCDS589.1	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684361	0.47991	.	.	ENSG00000116221	ENST00000360840;ENST00000329505	T	0.18810	2.19	5.12	5.12	0.69794	.	0.105808	0.64402	D	0.000005	T	0.18593	0.0446	L	0.47190	1.495	0.80722	D	1	P;B	0.36330	0.548;0.32	B;B	0.33521	0.165;0.032	T	0.02505	-1.1149	10	0.35671	T	0.21	-3.9419	11.6613	0.51347	0.0:0.9179:0.0:0.0821	.	99;162	E9PB99;Q9BZE1	.;RM37_HUMAN	C	162;99	ENSP00000354086:R162C	ENSP00000328799:R99C	R	+	1	0	MRPL37	54443416	0.907000	0.30839	0.973000	0.42090	0.781000	0.44180	1.796000	0.38794	2.377000	0.81083	0.655000	0.94253	CGT	MRPL37	-	pfam_Ribosomal_L37/S30	ENSG00000116221		0.483	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL37	HGNC	protein_coding	OTTHUMT00000022224.1	-	0.00	43	0	C	NM_016491		54670828	+1	tier1	rs201357587	no_errors	ENST00000360840	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.984	T
MROH7	374977	genome.wustl.edu	37	1	55136582	55136582	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:55136582G>T	ENST00000421030.2	+	7	1864	c.1579G>T	c.(1579-1581)Gcc>Tcc	p.A527S	MROH7_ENST00000339553.5_Missense_Mutation_p.A527S|MROH7_ENST00000409996.1_Missense_Mutation_p.A95S|MROH7_ENST00000454855.2_Missense_Mutation_p.A45S|MROH7_ENST00000395690.2_Missense_Mutation_p.A527S|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.A527S|MROH7_ENST00000545244.1_Missense_Mutation_p.A95S	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	527						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GAAGGACGAGGCCAAGGCTGA	0.652																																																	0													32.0	39.0	37.0					1																	55136582		2150	4245	6395	SO:0001583	missense	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1579G>T	1.37:g.55136582G>T	ENSP00000396622:p.Ala527Ser		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A527S	ENST00000421030.2	37	c.1579	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	5.636	0.302022	0.10678	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;3.61;1.46	5.08	1.73	0.24493	.	0.177190	0.27581	N	0.018734	T	0.17066	0.0410	N	0.21448	0.665	0.09310	N	1	B;B;B	0.28350	0.208;0.041;0.008	B;B;B	0.31686	0.134;0.016;0.005	T	0.21965	-1.0230	10	0.14656	T	0.56	-2.7207	7.7389	0.28831	0.0:0.2683:0.5618:0.1698	.	527;527;95	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	S	527;95;552;527;95;45;527	ENSP00000396622:A527S;ENSP00000442333:A95S;ENSP00000343211:A527S;ENSP00000387048:A95S;ENSP00000401130:A45S;ENSP00000379044:A527S	ENSP00000343211:A527S	A	+	1	0	HEATR8	54909170	0.004000	0.15560	0.922000	0.36590	0.361000	0.29550	0.845000	0.27668	1.092000	0.41356	0.650000	0.86243	GCC	MROH7-TTC4	-	superfamily_ARM-type_fold	ENSG00000271723		0.652	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1	-	0.00	17	0	G	NM_198547		55136582	+1	tier1	-	no_errors	ENST00000414150	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.358	T
MRPL4	51073	genome.wustl.edu	37	19	10369991	10369991	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10369991G>A	ENST00000253099.6	+	9	1026				CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Intron|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000393733.2_Missense_Mutation_p.A295T	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		tcacctccctgccctcccgtc	0.657																																																	0																																										SO:0001627	intron_variant	0			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.740-302G>A	19.37:g.10369991G>A			A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	p.A295T	ENST00000253099.6	37	c.883	CCDS12230.1	19																																																																																			MRPL4	-	NULL	ENSG00000105364		0.657	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL4	HGNC	protein_coding	OTTHUMT00000451197.1	-	0.00	46	0	G			10369991	+1	tier1	-	no_errors	ENST00000393733	ensembl	human	putative	74_37	missense	24.39	31	10	SNP	0.000	A
MRPL4	51073	genome.wustl.edu	37	19	10370444	10370445	+	Frame_Shift_Ins	INS	-	-	C	rs2304236	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10370444_10370445insC	ENST00000253099.6	+	9	1178_1179	c.891_892insC	c.(892-894)cccfs	p.P298fs	CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Frame_Shift_Ins_p.P298fs|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000393733.2_3'UTR	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	298					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CCCGACCCCTACCCCACGCTAC	0.658																																																	0																																										SO:0001589	frameshift_variant	0			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.895dupC	19.37:g.10370448_10370448dupC	ENSP00000253099:p.Pro298fs		A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Frame_Shift_Ins	INS	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	p.H298fs	ENST00000253099.6	37	c.891_892	CCDS12230.1	19																																																																																			MRPL4	-	NULL	ENSG00000105364		0.658	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL4	HGNC	protein_coding	OTTHUMT00000451197.1		0.00	111	0	0			10370445	+1			no_errors	ENST00000253099	ensembl	human	known	74_37	frame_shift_ins	7.69	96	8	INS	0.000:0.001	C
MRPL45	84311	genome.wustl.edu	37	17	36455359	36455359	+	Missense_Mutation	SNP	G	G	A	rs201673456	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:36455359G>A	ENST00000312513.5	+	3	448	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	96						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGTGATGCACGCATATCATCT	0.383													G|||	6	0.00119808	0.0	0.0	5008	,	,		18612	0.0		0.002	False		,,,				2504	0.0041																0													93.0	88.0	90.0					17																	36455359		2203	4300	6503	SO:0001583	missense	0			BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.287G>A	17.37:g.36455359G>A	ENSP00000308901:p.Arg96His		A1L436|Q6ZMJ5	Missense_Mutation	SNP	pfam_Tim44-like_dom,smart_Tim44-like_dom	p.R96H	ENST00000312513.5	37	c.287	CCDS11326.1	17	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034064	0.35893	.	.	ENSG00000174100	ENST00000312513	T	0.32988	1.43	4.45	4.45	0.53987	.	0.053401	0.85682	D	0.000000	T	0.30135	0.0755	M	0.75264	2.295	0.51233	D	0.999916	P	0.44946	0.846	B	0.30251	0.113	T	0.44034	-0.9354	10	0.59425	D	0.04	-8.6564	15.0341	0.71731	0.0:0.0:1.0:0.0	.	96	Q9BRJ2	RM45_HUMAN	H	96	ENSP00000308901:R96H	ENSP00000308901:R96H	R	+	2	0	MRPL45	33708877	1.000000	0.71417	0.621000	0.29145	0.204000	0.24138	7.013000	0.76373	2.299000	0.77371	0.407000	0.27541	CGC	MRPL45	-	NULL	ENSG00000174100		0.383	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	MRPL45	HGNC	protein_coding	OTTHUMT00000256792.3	-	0.00	54	0	G	NM_032351		36455359	+1	tier1	rs201673456	no_errors	ENST00000312513	ensembl	human	known	74_37	missense	8.06	57	5	SNP	0.912	A
MRPS27	23107	genome.wustl.edu	37	5	71528293	71528293	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:71528293G>T	ENST00000261413.5	-	7	607	c.568C>A	c.(568-570)Ctg>Atg	p.L190M	MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.L204M|MRPS27_ENST00000515404.1_Missense_Mutation_p.L134M|MRPS27_ENST00000457646.4_Missense_Mutation_p.L134M	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	190						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTCTTTGCCAGGCAATGAAAT	0.418																																																	0													89.0	84.0	85.0					5																	71528293		2203	4300	6503	SO:0001583	missense	0			D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.568C>A	5.37:g.71528293G>T	ENSP00000261413:p.Leu190Met		B4DRT2|Q6P1S1	Missense_Mutation	SNP	pfam_Ribosomal_S27_mit	p.L204M	ENST00000261413.5	37	c.610	CCDS4013.1	5	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714233	0.68730	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	6.06	6.06	0.98353	.	0.071383	0.64402	D	0.000017	T	0.71787	0.3381	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;0.962;1.0	D;P;D	0.97110	1.0;0.726;1.0	T	0.70749	-0.4787	10	0.45353	T	0.12	-14.6427	14.7385	0.69434	0.0685:0.0:0.9315:0.0	.	204;134;190	B4DRT2;D6RJC7;Q92552	.;.;RT27_HUMAN	M	190;134;204;134;134	ENSP00000261413:L190M;ENSP00000428120:L134M;ENSP00000426941:L204M;ENSP00000426176:L134M;ENSP00000427237:L134M	ENSP00000261413:L190M	L	-	1	2	MRPS27	71564049	1.000000	0.71417	0.994000	0.49952	0.500000	0.33767	5.559000	0.67326	2.871000	0.98454	0.655000	0.94253	CTG	MRPS27	-	pfam_Ribosomal_S27_mit	ENSG00000113048		0.418	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS27	HGNC	protein_coding	OTTHUMT00000218560.2	-	0.00	41	0	G	NM_015084		71528293	-1	tier1	-	no_errors	ENST00000513900	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T
MRRF	92399	genome.wustl.edu	37	9	125047541	125047541	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:125047541T>C	ENST00000344641.3	+	4	745	c.434T>C	c.(433-435)tTg>tCg	p.L145S	MRRF_ENST00000546115.1_Missense_Mutation_p.L145S|MRRF_ENST00000297908.3_Missense_Mutation_p.L93S|MRRF_ENST00000373723.5_Missense_Mutation_p.L145S|MRRF_ENST00000394315.3_Missense_Mutation_p.L145S|MRRF_ENST00000373730.3_Missense_Mutation_p.L145S|MRRF_ENST00000373724.1_3'UTR|MRRF_ENST00000373729.1_Missense_Mutation_p.L101S	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	145					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						CAGCTGATTTTGGTGAATATG	0.478																																																	0													87.0	91.0	89.0					9																	125047541		2203	4300	6503	SO:0001583	missense	0			AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.434T>C	9.37:g.125047541T>C	ENSP00000343867:p.Leu145Ser		A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Missense_Mutation	SNP	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	p.L145S	ENST00000344641.3	37	c.434	CCDS6840.1	9	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644322	0.87859	.	.	ENSG00000148187	ENST00000297908;ENST00000373723;ENST00000373730;ENST00000546115;ENST00000344641;ENST00000441707;ENST00000373729;ENST00000373727;ENST00000373728;ENST00000373724;ENST00000394315	T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.48	5.48	0.80851	Ribosome recycling factor domain (2);Arginine repressor, C-terminal (1);	0.368479	0.31233	N	0.008004	T	0.48466	0.1501	L	0.28694	0.88	0.44711	D	0.997702	B;D;D;P	0.89917	0.34;1.0;0.991;0.934	B;D;P;P	0.71870	0.171;0.975;0.74;0.561	T	0.31696	-0.9934	10	0.10636	T	0.68	-1.8098	15.0539	0.71897	0.0:0.0:0.0:1.0	.	93;145;145;145	Q96E11-8;Q96E11-5;Q96E11-2;Q96E11	.;.;.;RRFM_HUMAN	S	93;145;145;145;145;145;101;145;145;101;145	ENSP00000297908:L93S;ENSP00000362828:L145S;ENSP00000362835:L145S;ENSP00000445588:L145S;ENSP00000343867:L145S;ENSP00000395072:L145S;ENSP00000362834:L101S;ENSP00000362832:L145S;ENSP00000362833:L145S;ENSP00000362829:L101S;ENSP00000377850:L145S	ENSP00000297908:L93S	L	+	2	0	MRRF	124087362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.626000	0.67777	2.204000	0.70986	0.528000	0.53228	TTG	MRRF	-	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	ENSG00000148187		0.478	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRRF	HGNC	protein_coding	OTTHUMT00000053914.1		0.00	34	0	T	NM_138777		125047541	+1			no_errors	ENST00000344641	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	C
MRTO4	51154	genome.wustl.edu	37	1	19585041	19585041	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:19585041C>T	ENST00000330263.4	+	7	861	c.564C>T	c.(562-564)cgC>cgT	p.R188R		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	188					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGCTCGCGTCCTGGTGA	0.602																																					GBM(192;2418 3032 7540 48714)												0													108.0	108.0	108.0					1																	19585041		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.564C>T	1.37:g.19585041C>T			B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Silent	SNP	pfam_Ribosomal_L10/acidic_P0	p.R188	ENST00000330263.4	37	c.564	CCDS191.1	1																																																																																			MRTO4	-	NULL	ENSG00000053372		0.602	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRTO4	HGNC	protein_coding	OTTHUMT00000007075.2	-	0.00	69	0	C	NM_016183		19585041	+1	tier1	-	no_errors	ENST00000330263	ensembl	human	known	74_37	silent	38.30	29	18	SNP	0.000	T
MSH6	2956	genome.wustl.edu	37	2	48032796	48032796	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:48032796G>A	ENST00000234420.5	+	7	3748	c.3596G>A	c.(3595-3597)aGc>aAc	p.S1199N	MSH6_ENST00000540021.1_Missense_Mutation_p.S1069N|MSH6_ENST00000538136.1_Missense_Mutation_p.S897N|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1199					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAACTGCCAGCATACTCATG	0.294			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											93.0	95.0	94.0					2																	48032796		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3596G>A	2.37:g.48032796G>A	ENSP00000234420:p.Ser1199Asn		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.S1199N	ENST00000234420.5	37	c.3596	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317779	0.81469	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.85339	-1.97;-1.97;-1.97	5.05	5.05	0.67936	DNA mismatch repair protein MutS, C-terminal (2);	0.037532	0.85682	D	0.000000	T	0.81692	0.4876	N	0.13043	0.29	0.80722	D	1	P;P	0.42248	0.774;0.774	B;P	0.48089	0.345;0.566	D	0.83705	0.0184	10	0.51188	T	0.08	-16.555	18.6051	0.91263	0.0:0.0:1.0:0.0	.	1069;1199	B4DF41;P52701	.;MSH6_HUMAN	N	1199;165;1069;897	ENSP00000234420:S1199N;ENSP00000446475:S1069N;ENSP00000438580:S897N	ENSP00000234420:S1199N	S	+	2	0	MSH6	47886300	1.000000	0.71417	0.996000	0.52242	0.804000	0.45430	9.477000	0.97925	2.622000	0.88805	0.462000	0.41574	AGC	MSH6	-	pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.294	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	-	0.00	187	0	G	NM_000179		48032796	+1	tier1	-	no_errors	ENST00000234420	ensembl	human	known	74_37	missense	16.97	137	28	SNP	1.000	A
MSI1	4440	genome.wustl.edu	37	12	120795666	120795666	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:120795666C>T	ENST00000257552.2	-	8	575	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	163	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTTTCTCCACGATGTCCTCA	0.498																																																	0													133.0	102.0	112.0					12																	120795666		2203	4300	6503	SO:0001583	missense	0			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.487G>A	12.37:g.120795666C>T	ENSP00000257552:p.Val163Met		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V163M	ENST00000257552.2	37	c.487	CCDS9196.1	12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533823	0.85812	.	.	ENSG00000135097	ENST00000257552	T	0.75260	-0.92	5.09	5.09	0.68999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.095210	0.43919	D	0.000520	D	0.84813	0.5555	M	0.67397	2.05	0.80722	D	1	D	0.56287	0.975	D	0.65323	0.934	D	0.86338	0.1703	10	0.87932	D	0	.	18.8779	0.92346	0.0:1.0:0.0:0.0	.	163	O43347	MSI1H_HUMAN	M	163	ENSP00000257552:V163M	ENSP00000257552:V163M	V	-	1	0	MSI1	119280049	1.000000	0.71417	0.997000	0.53966	0.765000	0.43378	7.380000	0.79704	2.548000	0.85928	0.555000	0.69702	GTG	MSI1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000135097		0.498	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSI1	HGNC	protein_coding	OTTHUMT00000403629.1	-	0.00	25	0	C	NM_002442		120795666	-1	tier1	-	no_errors	ENST00000257552	ensembl	human	known	74_37	missense	28.57	20	8	SNP	1.000	T
MSL1	339287	genome.wustl.edu	37	17	38282534	38282535	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:38282534_38282535delAG	ENST00000398532.4	+	2	1182_1183	c.867_868delAG	c.(865-870)gaagagfs	p.EE289fs	MSL1_ENST00000577454.1_Frame_Shift_Del_p.EE289fs|MSL1_ENST00000579565.1_Frame_Shift_Del_p.EE26fs|MSL1_ENST00000578648.1_Frame_Shift_Del_p.EE289fs	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	289					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						ATGAAACTGAAGAGAGAGAGGA	0.495																																																	0																																										SO:0001589	frameshift_variant	0				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.867_868delAG	17.37:g.38282542_38282543delAG	ENSP00000381543:p.Glu289fs		Q0VF46|Q69Z03	Frame_Shift_Del	DEL	NULL	p.E292fs	ENST00000398532.4	37	c.867_868		17																																																																																			MSL1	-	NULL	ENSG00000188895		0.495	MSL1-003	KNOWN	basic	protein_coding	MSL1	HGNC	protein_coding	OTTHUMT00000447409.2		0.00	53	0	AG	NM_001012241		38282535	+1	tier1		no_errors	ENST00000398532	ensembl	human	known	74_37	frame_shift_del	34.48	38	20	DEL	1.000:1.000	-
MSL3	10943	genome.wustl.edu	37	X	11783863	11783863	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:11783863G>A	ENST00000312196.4	+	9	1276				MSL3_ENST00000361672.2_Intron|MSL3_ENST00000380693.3_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000398527.2_Intron|MSL3_ENST00000337339.2_Missense_Mutation_p.G396R	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GTTCATTCTCGGGTGCCCCAG	0.582																																																	0													113.0	93.0	100.0					X																	11783863		2203	4300	6503	SO:0001627	intron_variant	0			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1171+15G>A	X.37:g.11783863G>A			A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.G396R	ENST00000312196.4	37	c.1186	CCDS14147.1	X	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986055	0.35036	.	.	ENSG00000005302	ENST00000337339	T	0.07114	3.22	3.02	-3.76	0.04359	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43861	-0.9365	8	.	.	.	.	1.0512	0.01580	0.3489:0.3131:0.1933:0.1447	.	396	A6NHW8	.	R	396	ENSP00000338078:G396R	.	G	+	1	0	MSL3	11693784	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.507000	0.06352	-1.305000	0.02327	-0.192000	0.12808	GGG	MSL3	-	NULL	ENSG00000005302		0.582	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL3	HGNC	protein_coding	OTTHUMT00000055757.1	-	0.00	45	0	G	NM_006800		11783863	+1	tier1	-	no_errors	ENST00000337339	ensembl	human	known	74_37	missense	13.89	31	5	SNP	0.000	A
MSLNL	401827	genome.wustl.edu	37	16	830602	830602	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:830602C>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Silent_p.A133A			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGTGCAGGCACGCATGTGTAG	0.557																																																	0													305.0	261.0	276.0					16																	830602		2181	4268	6449	SO:0001627	intron_variant	0					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-440G>A	16.37:g.830602C>T				Silent	SNP	pfam_Mesothelin	p.A133	ENST00000442466.1	37	c.399		16																																																																																			MSLNL	-	NULL	ENSG00000162006		0.557	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	HGNC	protein_coding		-	0.00	80	0	C	NM_001025190		830602	-1	tier1	-	no_errors	ENST00000293892	ensembl	human	known	74_37	silent	17.95	64	14	SNP	0.000	T
MSR1	4481	genome.wustl.edu	37	8	15978079	15978079	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:15978079C>T	ENST00000262101.5	-	9	1191	c.1070G>A	c.(1069-1071)gGc>gAc	p.G357D	MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.G375D|MSR1_ENST00000355282.2_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	357	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCGTGAGGGCCGCTCCCACC	0.478																																																	0													72.0	74.0	73.0					8																	15978079		2203	4300	6503	SO:0001583	missense	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1070G>A	8.37:g.15978079C>T	ENSP00000262101:p.Gly357Asp		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR	p.G357D	ENST00000262101.5	37	c.1070	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365375	0.41902	.	.	ENSG00000038945	ENST00000262101;ENST00000445506	D;T	0.97186	-4.28;1.59	4.84	2.96	0.34315	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.191992	0.25798	N	0.028232	D	0.95313	0.8479	L	0.35854	1.095	0.80722	D	1	D;D	0.58620	0.983;0.967	P;P	0.57057	0.812;0.812	D	0.92469	0.5984	10	0.46703	T	0.11	.	3.9351	0.09302	0.1712:0.5742:0.1653:0.0892	.	375;357	B4DDJ5;P21757	.;MSRE_HUMAN	D	357;375	ENSP00000262101:G357D;ENSP00000405453:G375D	ENSP00000262101:G357D	G	-	2	0	MSR1	16022450	0.000000	0.05858	0.057000	0.19452	0.112000	0.19704	-0.455000	0.06762	0.665000	0.31066	0.655000	0.94253	GGC	MSR1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	ENSG00000038945		0.478	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2		0.00	44	0	C			15978079	-1			no_errors	ENST00000262101	ensembl	human	known	74_37	missense	11.11	48	6	SNP	0.621	T
MST1R	4486	genome.wustl.edu	37	3	49932626	49932626	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:49932626G>A	ENST00000296474.3	-	14	3272	c.3245C>T	c.(3244-3246)aCc>aTc	p.T1082I	MST1R_ENST00000344206.4_Missense_Mutation_p.T1033I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1082	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTCACTGTGGGTGACCACCCG	0.607																																																	0													217.0	227.0	224.0					3																	49932626		2203	4300	6503	SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3245C>T	3.37:g.49932626G>A	ENSP00000296474:p.Thr1082Ile		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.T1082I	ENST00000296474.3	37	c.3245	CCDS2807.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.512|9.512	1.105996|1.105996	0.20632|0.20632	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000440292|ENST00000296474;ENST00000344206	.|T;T	.|0.10288	.|2.89;2.89	5.84|5.84	2.08|2.08	0.27032|0.27032	.|Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.304933	.|0.42821	.|N	.|0.000660	T|T	0.03651|0.03651	0.0104|0.0104	N|N	0.02158|0.02158	-0.66|-0.66	0.19945|0.19945	N|N	0.999941|0.999941	.|B	.|0.25312	.|0.123	.|B	.|0.25291	.|0.059	T|T	0.45293|0.45293	-0.9271|-0.9271	5|10	.|0.19590	.|T	.|0.45	-11.4526|-11.4526	9.2268|9.2268	0.37412|0.37412	0.2885:0.0:0.7115:0.0|0.2885:0.0:0.7115:0.0	.|.	.|1082	.|Q04912	.|RON_HUMAN	S|I	103|1082;1033	.|ENSP00000296474:T1082I;ENSP00000341325:T1033I	.|ENSP00000296474:T1082I	P|T	-|-	1|2	0|0	MST1R|MST1R	49907630|49907630	0.752000|0.752000	0.28338|0.28338	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	1.476000|1.476000	0.35420|0.35420	0.107000|0.107000	0.17824|0.17824	0.561000|0.561000	0.74099|0.74099	CCC|ACC	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000164078		0.607	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	-	0.00	26	0	G			49932626	-1	tier1	-	no_errors	ENST00000296474	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.302	A
MST1R	4486	genome.wustl.edu	37	3	49935496	49935496	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:49935496C>T	ENST00000296474.3	-	5	1895	c.1868G>A	c.(1867-1869)aGc>aAc	p.S623N	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.S623N	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	623	IPT/TIG 1.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GAGTTTTGAGCTGTCCTTGGG	0.577																																																	0													83.0	75.0	78.0					3																	49935496		2203	4300	6503	SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1868G>A	3.37:g.49935496C>T	ENSP00000296474:p.Ser623Asn		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.S623N	ENST00000296474.3	37	c.1868	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	9.608	1.130631	0.21041	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.80033	-1.33;-1.33	5.65	1.6	0.23607	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.306223	0.43416	N	0.000567	T	0.66963	0.2843	N	0.19112	0.55	0.09310	N	0.999994	B;B;B;B	0.22541	0.002;0.071;0.071;0.007	B;B;B;B	0.29716	0.003;0.081;0.106;0.011	T	0.59841	-0.7378	10	0.59425	D	0.04	-14.5493	8.513	0.33229	0.0:0.5078:0.2521:0.2401	.	517;623;623;623	Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;RON_HUMAN	N	623	ENSP00000296474:S623N;ENSP00000341325:S623N	ENSP00000296474:S623N	S	-	2	0	MST1R	49910500	0.406000	0.25344	0.867000	0.34043	0.504000	0.33889	0.428000	0.21395	0.314000	0.23086	-0.311000	0.09066	AGC	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000164078		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1		0.00	32	0	C			49935496	-1			no_errors	ENST00000296474	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.025	T
MSTO1	55154	genome.wustl.edu	37	1	155583470	155583470	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:155583470C>T	ENST00000245564.2	+	13	1435	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.P436S|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	471					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GCTGCTGACTCCCTGCAGGGT	0.577																																																	0													11.0	9.0	10.0					1																	155583470		1999	4103	6102	SO:0001583	missense	0			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.1411C>T	1.37:g.155583470C>T	ENSP00000245564:p.Pro471Ser		Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	pfam_Misato_II_tubulin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase	p.P471S	ENST00000245564.2	37	c.1411	CCDS1114.1	1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.744003	0.89663	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.56611	0.45;0.64	3.14	3.14	0.36123	.	0.133729	0.51477	D	0.000094	T	0.58119	0.2100	M	0.68952	2.095	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.935;0.998;1.0;1.0;0.973;1.0;1.0	P;D;D;D;P;D;D	0.87578	0.625;0.948;0.983;0.998;0.729;0.993;0.993	T	0.57004	-0.7885	10	0.27785	T	0.31	.	12.9528	0.58411	0.0:1.0:0.0:0.0	.	416;471;436;293;471;471;471	B4DLS9;A8K3J5;Q9BUK6-7;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;MSTO1_HUMAN;.;.	S	471;436	ENSP00000245564:P471S;ENSP00000357325:P436S	ENSP00000245564:P471S	P	+	1	0	MSTO1	153850094	0.984000	0.35163	0.887000	0.34795	0.911000	0.54048	5.267000	0.65530	1.583000	0.49898	0.313000	0.20887	CCC	MSTO1	-	NULL	ENSG00000125459		0.577	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1	-	0.00	63	0	C	NM_018116		155583470	+1	tier1	-	no_errors	ENST00000245564	ensembl	human	known	74_37	missense	22.03	46	13	SNP	0.937	T
MT-ND5	4540	genome.wustl.edu	37	M	13339	13339	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrM:13339T>C	ENST00000361567.2	+	1	1003	c.1003T>C	c.(1003-1005)Ttc>Ctc	p.F335L	MT-TL2_ENST00000387456.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	335					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CCCACGCCTTCTTCAAAGCCA	0.433																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1003T>C	M.37:g.13339T>C	ENSP00000354813:p.Phe335Leu		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.F335L	ENST00000361567.2	37	c.1003		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5	ENSG00000198786		0.433	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		-	0.00	29	0	T	YP_003024036		13339	+1	tier1	-	no_errors	ENST00000361567	ensembl	human	known	74_37	missense	20.00	8	2	SNP	NULL	C
MTA1	9112	genome.wustl.edu	37	14	105929561	105929561	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105929561A>G	ENST00000331320.7	+	11	1197	c.983A>G	c.(982-984)tAc>tGc	p.Y328C	MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000405646.1_Missense_Mutation_p.Y311C|MTA1_ENST00000406191.1_Missense_Mutation_p.Y328C	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	328	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GAGTACTACTACATGTGGAAG	0.647																																																	0													121.0	113.0	116.0					14																	105929561		2203	4300	6503	SO:0001583	missense	0			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.983A>G	14.37:g.105929561A>G	ENSP00000333633:p.Tyr328Cys		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.Y328C	ENST00000331320.7	37	c.983	CCDS32169.1	14	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419100	0.83559	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	3.88	3.88	0.44766	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;0.984	D;P	0.91635	0.999;0.904	D	0.89659	0.3875	10	0.87932	D	0	-19.9099	11.5268	0.50584	1.0:0.0:0.0:0.0	.	120;328	Q59FW1;Q13330	.;MTA1_HUMAN	C	237;328;328;311;120	ENSP00000333633:Y328C;ENSP00000385702:Y328C;ENSP00000384180:Y311C;ENSP00000394106:Y120C	ENSP00000333633:Y328C	Y	+	2	0	MTA1	105000606	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.166000	0.94766	1.410000	0.46936	0.460000	0.39030	TAC	MTA1	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000182979		0.647	MTA1-001	KNOWN	basic|CCDS	protein_coding	MTA1	HGNC	protein_coding	OTTHUMT00000317849.15	-	0.00	55	0	A			105929561	+1	tier1	-	no_errors	ENST00000331320	ensembl	human	known	74_37	missense	36.96	29	17	SNP	1.000	G
MTA1	9112	genome.wustl.edu	37	14	105936238	105936239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105936238_105936239insG	ENST00000331320.7	+	20	2120_2121	c.1906_1907insG	c.(1906-1908)cggfs	p.R636fs	MTA1_ENST00000435036.2_Frame_Shift_Ins_p.R176fs|MTA1_ENST00000405646.1_Frame_Shift_Ins_p.R619fs|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Frame_Shift_Ins_p.R624fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	636					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GCGCCTGATCCGGGGGGGCTCC	0.663																																																	0																																										SO:0001589	frameshift_variant	0			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1913dupG	14.37:g.105936245_105936245dupG	ENSP00000333633:p.Arg636fs		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Frame_Shift_Ins	INS	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.S639fs	ENST00000331320.7	37	c.1906_1907	CCDS32169.1	14																																																																																			MTA1	-	NULL	ENSG00000182979		0.663	MTA1-001	KNOWN	basic|CCDS	protein_coding	MTA1	HGNC	protein_coding	OTTHUMT00000317849.15		0.00	84	0	-			105936239	+1	tier1		no_errors	ENST00000331320	ensembl	human	known	74_37	frame_shift_ins	20.22	71	18	INS	0.998:0.999	G
MTERF3	51001	genome.wustl.edu	37	8	97263175	97263176	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:97263175_97263176insT	ENST00000287025.3	-	4	733_734	c.635_636insA	c.(634-636)aatfs	p.N212fs	MTERFD1_ENST00000522822.1_Frame_Shift_Ins_p.N91fs|MTERFD1_ENST00000524341.1_Frame_Shift_Ins_p.N22fs|MTERFD1_ENST00000523821.1_Frame_Shift_Ins_p.N212fs	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		212					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAATTGCATGATTTTTTGTCAG	0.351																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000287025.3:c.636dupA	8.37:g.97263181_97263181dupT	ENSP00000287025:p.Asn212fs		B3KMG6|G3V130|Q9Y301	Frame_Shift_Ins	INS	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.N212fs	ENST00000287025.3	37	c.636_635	CCDS6270.1	8																																																																																			MTERFD1	-	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	ENSG00000156469		0.351	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTERFD1	HGNC	protein_coding	OTTHUMT00000379876.1		0.00	71	0	-			97263176	-1	tier1		no_errors	ENST00000287025	ensembl	human	known	74_37	frame_shift_ins	29.35	65	27	INS	0.917:1.000	T
MTF2	22823	genome.wustl.edu	37	1	93602676	93602677	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:93602676_93602677delAA	ENST00000370298.4	+	0	2163_2164				MTF2_ENST00000370303.4_3'UTR|MTF2_ENST00000540243.1_3'UTR|MTF2_ENST00000545708.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2						chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TATCTTTCTTAAAAAAAAAAAA	0.332																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.*93AA>-	1.37:g.93602686_93602687delAA			A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	RNA	DEL	-	NULL	ENST00000370298.4	37	NULL	CCDS742.1	1																																																																																			MTF2	-	-	ENSG00000143033		0.332	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	HGNC	protein_coding	OTTHUMT00000028075.3		0.00	71	0	AA	NM_007358		93602677	+1	tier1		no_errors	ENST00000467953	ensembl	human	known	74_37	rna	26.42	78	28	DEL	1.000:0.997	-
MTIF2	4528	genome.wustl.edu	37	2	55476628	55476628	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:55476628G>A	ENST00000263629.4	-	9	1199	c.884C>T	c.(883-885)gCt>gTt	p.A295V	MTIF2_ENST00000394600.3_Missense_Mutation_p.A295V|MTIF2_ENST00000403721.1_Missense_Mutation_p.A295V	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	295	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CTCAGGATCAGCCTCAGCTTT	0.413																																																	0													230.0	201.0	211.0					2																	55476628		2203	4300	6503	SO:0001583	missense	0			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.884C>T	2.37:g.55476628G>A	ENSP00000263629:p.Ala295Val		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom	p.A295V	ENST00000263629.4	37	c.884	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022582	0.93462	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823;ENST00000535023	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.9	5.9	0.94986	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	L	0.48174	1.505	0.80722	D	1	P	0.47762	0.9	P	0.53450	0.726	T	0.78283	-0.2264	10	0.87932	D	0	-18.2176	20.282	0.98514	0.0:0.0:1.0:0.0	.	295	P46199	IF2M_HUMAN	V	295;295;295;15;295	ENSP00000384481:A295V;ENSP00000263629:A295V;ENSP00000378099:A295V;ENSP00000403492:A15V	ENSP00000263629:A295V	A	-	2	0	MTIF2	55330132	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.648000	0.83479	2.786000	0.95864	0.563000	0.77884	GCT	MTIF2	-	pfam_EF_GTP-bd_dom,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom	ENSG00000085760		0.413	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	-	0.00	71	0	G	NM_002453		55476628	-1	tier1	-	no_errors	ENST00000263629	ensembl	human	known	74_37	missense	24.39	62	20	SNP	1.000	A
MTO1	25821	genome.wustl.edu	37	6	74183265	74183265	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:74183265G>A	ENST00000370300.4	+	4	803	c.713G>A	c.(712-714)gGg>gAg	p.G238E	MTO1_ENST00000370305.1_Missense_Mutation_p.G164E|MTO1_ENST00000498286.1_Missense_Mutation_p.G238E|MTO1_ENST00000415954.2_Missense_Mutation_p.G238E	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	238					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TTGAAGACTGGGACTCCACCC	0.463																																																	0													155.0	140.0	145.0					6																	74183265		2203	4300	6503	SO:0001583	missense	0			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.713G>A	6.37:g.74183265G>A	ENSP00000359323:p.Gly238Glu		B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA	p.G238E	ENST00000370300.4	37	c.713	CCDS4979.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.274414	0.95459	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000370305;ENST00000370300	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	H	0.97291	3.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95818	0.8847	10	0.87932	D	0	-18.5747	17.9905	0.89168	0.0:0.0:1.0:0.0	.	238;238;238	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	E	238;238;164;238	ENSP00000402038:G238E;ENSP00000419561:G238E;ENSP00000359328:G164E;ENSP00000359323:G238E	ENSP00000359323:G238E	G	+	2	0	MTO1	74239986	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.967000	0.93402	2.682000	0.91365	0.609000	0.83330	GGG	MTO1	-	pfam_GIDA-rel,tigrfam_GidA	ENSG00000135297		0.463	MTO1-003	KNOWN	basic|CCDS	protein_coding	MTO1	HGNC	protein_coding	OTTHUMT00000041215.2	-	0.00	130	0	G	NM_012123		74183265	+1	tier1	-	no_errors	ENST00000415954	ensembl	human	known	74_37	missense	7.89	70	6	SNP	1.000	A
MTR	4548	genome.wustl.edu	37	1	236972027	236972027	+	Silent	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:236972027T>G	ENST00000366577.5	+	4	757	c.363T>G	c.(361-363)tcT>tcG	p.S121S	MTR_ENST00000535889.1_Silent_p.S121S|MTR_ENST00000418145.2_Silent_p.S177S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	121	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACATGTGCTCTGCAGGAGTGG	0.458																																																	0													172.0	163.0	166.0					1																	236972027		2203	4300	6503	SO:0001819	synonymous_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.363T>G	1.37:g.236972027T>G			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.S121	ENST00000366577.5	37	c.363	CCDS1614.1	1																																																																																			MTR	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH	ENSG00000116984		0.458	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0.00	49	0	T	NM_000254		236972027	+1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	silent	11.32	47	6	SNP	0.994	G
MTR	4548	genome.wustl.edu	37	1	236972037	236972037	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:236972037G>A	ENST00000366577.5	+	4	767	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	MTR_ENST00000535889.1_Missense_Mutation_p.A125T|MTR_ENST00000418145.2_Missense_Mutation_p.A181T	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	125	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGCAGGAGTGGCCAGAAAAGC	0.458																																																	0													176.0	167.0	170.0					1																	236972037		2203	4300	6503	SO:0001583	missense	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.373G>A	1.37:g.236972037G>A	ENSP00000355536:p.Ala125Thr		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.A125T	ENST00000366577.5	37	c.373	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650027	0.87958	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000418145;ENST00000535889	T;T;T	0.26373	1.74;1.74;1.74	5.71	5.71	0.89125	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	H	0.96916	3.905	0.50467	D	0.999877	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.99;0.99;0.99	T	0.78775	-0.2072	10	0.87932	D	0	-17.0517	18.4217	0.90592	0.0:0.0:1.0:0.0	.	125;125;125	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	T	125;125;181;125	ENSP00000355536:A125T;ENSP00000402255:A181T;ENSP00000441845:A125T	ENSP00000355536:A125T	A	+	1	0	MTR	235038660	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	7.161000	0.77505	2.687000	0.91594	0.655000	0.94253	GCC	MTR	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH	ENSG00000116984		0.458	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0.00	48	0	G	NM_000254		236972037	+1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	12.00	44	6	SNP	1.000	A
MTR	4548	genome.wustl.edu	37	1	237058730	237058730	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:237058730G>A	ENST00000366577.5	+	31	3872	c.3478G>A	c.(3478-3480)Gtc>Atc	p.V1160I	MTR_ENST00000535889.1_Missense_Mutation_p.V1109I|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1160	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCAGCTGGACGTCGCAGACCT	0.627																																																	0													34.0	26.0	29.0					1																	237058730		2203	4298	6501	SO:0001583	missense	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3478G>A	1.37:g.237058730G>A	ENSP00000355536:p.Val1160Ile		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.V1160I	ENST00000366577.5	37	c.3478	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078493	0.36662	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.75938	-0.98;-0.98;-0.98	5.57	-2.11	0.07187	Vitamin B12-dependent methionine synthase, activation domain (4);	0.427134	0.24820	N	0.035327	T	0.46190	0.1380	N	0.12502	0.225	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.25047	-1.0143	10	0.66056	D	0.02	-0.4826	0.6442	0.00815	0.3102:0.2009:0.3:0.1889	.	1160;1109;1160	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	I	1014;1160;1109;714	ENSP00000355536:V1160I;ENSP00000441845:V1109I;ENSP00000355535:V714I	ENSP00000355535:V714I	V	+	1	0	MTR	235125353	0.000000	0.05858	0.000000	0.03702	0.923000	0.55619	0.067000	0.14510	-0.746000	0.04766	-0.373000	0.07131	GTC	MTR	-	pfam_VitB12-dep_Met_synth_activ_dom,superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH	ENSG00000116984		0.627	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0.00	41	0	G	NM_000254		237058730	+1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.000	A
MTR	4548	genome.wustl.edu	37	1	237060946	237060948	+	3'UTR	DEL	TTT	TTT	-	rs67705775		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:237060946_237060948delTTT	ENST00000366577.5	+	0	4194_4196				MTR_ENST00000535889.1_3'UTR|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACAGACTAACTTTTTTTTTTTTT	0.369																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.*4TTT>-	1.37:g.237060955_237060957delTTT			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	RNA	DEL	-	NULL	ENST00000366577.5	37	NULL	CCDS1614.1	1																																																																																			MTR	-	-	ENSG00000116984		0.369	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2		0.00	54	0	TTT	NM_000254		237060948	+1	tier1		no_errors	ENST00000470570	ensembl	human	known	74_37	rna	18.60	35	8	DEL	0.000:0.001:0.006	-
MTSS1	9788	genome.wustl.edu	37	8	125570136	125570136	+	Intron	DEL	G	G	-	rs371358168|rs541454594	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:125570136delG	ENST00000518547.1	-	11	1509				MTSS1_ENST00000378017.3_Intron|MTSS1_ENST00000524090.1_Intron|MTSS1_ENST00000523587.1_Intron|MTSS1_ENST00000354184.4_Intron|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000395508.2_Intron|MTSS1_ENST00000325064.5_Intron|MTSS1_ENST00000431961.2_Intron	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1						actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AACAAAAAAAGGGGGGGGGAA	0.423													?|GGGGGGGGG|GGGGGGGG|unsure	8	0.00159744	0.0008	0.0029	5008	,	,		15479	0.002		0.001	False		,,,				2504	0.002				Esophageal Squamous(160;622 1893 3862 8546 12509)												0													7.0	9.0	8.0					8																	125570136		2165	4266	6431	SO:0001627	intron_variant	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1036-20C>-	8.37:g.125570136delG			J3KNK6|Q8TCA2|Q96RX2	RNA	DEL	-	NULL	ENST00000518547.1	37	NULL	CCDS6353.1	8																																																																																			MTSS1	-	-	ENSG00000170873		0.423	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3		0.00	79	0	G	NM_014751		125570136	-1	tier1		no_errors	ENST00000520094	ensembl	human	known	74_37	rna	36.11	46	26	DEL	0.048	-
MTTP	4547	genome.wustl.edu	37	4	100543977	100543977	+	Missense_Mutation	SNP	C	C	T	rs144600401	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:100543977C>T	ENST00000265517.5	+	18	2860	c.2657C>T	c.(2656-2658)cCg>cTg	p.P886L	MTTP_ENST00000457717.1_Missense_Mutation_p.P886L|MTTP_ENST00000511045.1_Missense_Mutation_p.P913L|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	886					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GCCCCTCAGCCGGATAGTACT	0.443																																																	0								T	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	161.0	159.0	160.0		2657	4.4	0.0	4	dbSNP_134	160	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MTTP	NM_000253.2	98	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	886/895	100543977	4,13002	2203	4300	6503	SO:0001583	missense	0				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2657C>T	4.37:g.100543977C>T	ENSP00000265517:p.Pro886Leu		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.P886L	ENST00000265517.5	37	c.2657	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	c	9.371	1.070505	0.20147	2.27E-4	3.49E-4	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.61392	0.11;0.14;0.14	6.16	4.44	0.53790	.	0.499250	0.23935	N	0.043105	T	0.50394	0.1613	L	0.57536	1.79	0.09310	N	1	B;B	0.18166	0.026;0.006	B;B	0.10450	0.005;0.003	T	0.45381	-0.9265	10	0.44086	T	0.13	-0.6624	8.268	0.31827	0.1253:0.7425:0.0:0.1321	.	913;886	E9PBP6;P55157	.;MTP_HUMAN	L	913;886;886	ENSP00000427679:P913L;ENSP00000400821:P886L;ENSP00000265517:P886L	ENSP00000265517:P886L	P	+	2	0	MTTP	100763000	0.398000	0.25279	0.009000	0.14445	0.094000	0.18550	2.654000	0.46699	1.639000	0.50556	-0.127000	0.14921	CCG	MTTP	-	NULL	ENSG00000138823		0.443	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	-	0.00	77	0	C			100543977	+1	tier1	rs144600401	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	29.79	33	14	SNP	0.010	T
MUC12	10071	genome.wustl.edu	37	7	100638855	100638855	+	Missense_Mutation	SNP	C	C	T	rs528056533	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:100638855C>T	ENST00000379442.3	+	5	5440	c.5440C>T	c.(5440-5442)Cac>Tac	p.H1814Y	MUC12_ENST00000536621.1_Missense_Mutation_p.H1671Y			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1814	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						TGGATCGCCACACACAACACT	0.572													-|||	2	0.000399361	0.0	0.0	5008	,	,		34734	0.0		0.0	False		,,,				2504	0.002																0													127.0	120.0	122.0					7																	100638855		692	1591	2283	SO:0001583	missense	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.5440C>T	7.37:g.100638855C>T	ENSP00000368755:p.His1814Tyr		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.H1671Y	ENST00000379442.3	37	c.5011		7	.	.	.	.	.	.	.	.	.	.	-	1.065	-0.671618	0.03403	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12039	2.72;2.72	0.702	-1.4	0.08968	.	.	.	.	.	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.36261	-0.9755	6	0.51188	T	0.08	.	.	.	.	.	.	.	.	Y	1814;1671	ENSP00000368755:H1814Y;ENSP00000441929:H1671Y	ENSP00000368755:H1814Y	H	+	1	0	MUC12	100425575	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.803000	0.04540	-0.376000	0.07943	0.194000	0.17425	CAC	MUC12	-	NULL	ENSG00000205277		0.572	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	0.00	91	0	C	XM_379904		100638855	+1	tier1	-	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	17.50	66	14	SNP	0.000	T
MUC15	143662	genome.wustl.edu	37	11	26587427	26587427	+	5'UTR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:26587427delT	ENST00000455601.2	-	0	97				MUC15_ENST00000281268.8_Frame_Shift_Del_p.K20fs|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Frame_Shift_Del_p.K20fs|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Frame_Shift_Del_p.K20fs|MUC15_ENST00000527569.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000256737.3_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTGGTATTGGTTTTTTTTTAA	0.289																																																	0													30.0	31.0	30.0					11																	26587427		2174	4267	6441	SO:0001623	5_prime_UTR_variant	0			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.-22A>-	11.37:g.26587427delT			B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Frame_Shift_Del	DEL	NULL	p.K20fs	ENST00000455601.2	37	c.60	CCDS7859.1	11																																																																																			MUC15	-	NULL	ENSG00000169550		0.289	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1		0.00	52	0	T	NM_145650		26587427	-1			no_errors	ENST00000436318	ensembl	human	known	74_37	frame_shift_del	21.88	25	7	DEL	0.000	0
MUC4	4585	genome.wustl.edu	37	3	195509046	195509046	+	Silent	SNP	G	G	A	rs71634715		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:195509046G>A	ENST00000463781.3	-	2	9864	c.9405C>T	c.(9403-9405)acC>acT	p.T3135T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T3135T	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)		CAGGAAGAGCGGTGGCCTGAC	0.602																																																	0													23.0	11.0	15.0					3																	195509046		661	1546	2207	SO:0001819	synonymous_variant	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.9405C>T	3.37:g.195509046G>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.T3135	ENST00000463781.3	37	c.9405	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	-	0.00	138	0	G	NM_018406		195509046	-1	tier1	-	no_errors	ENST00000463781	ensembl	human	known	74_37	silent	15.44	126	23	SNP	0.058	A
MUC4	4585	genome.wustl.edu	37	3	195510046	195510046	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:195510046G>T	ENST00000463781.3	-	2	8864	c.8405C>A	c.(8404-8406)cCt>cAt	p.P2802H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2802H	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)		GTCGGTGACAGGAAGAGGGGT	0.577																																																	0													65.0	39.0	47.0					3																	195510046		685	1503	2188	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.8405C>A	3.37:g.195510046G>T	ENSP00000417498:p.Pro2802His		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_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P2802H	ENST00000463781.3	37	c.8405	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	5.863	0.343469	0.11069	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36878	1.23;1.32	0.918	0.918	0.19386	.	.	.	.	.	T	0.30324	0.0761	N	0.19112	0.55	0.09310	N	1	D	0.54964	0.969	P	0.52710	0.707	T	0.14448	-1.0472	8	.	.	.	.	7.3741	0.26818	0.0:0.0:1.0:0.0	.	2674	E7ESK3	.	H	2802	ENSP00000417498:P2802H;ENSP00000420243:P2802H	.	P	-	2	0	MUC4	196994825	0.034000	0.19679	0.011000	0.14972	0.065000	0.16274	1.146000	0.31589	0.432000	0.26286	0.074000	0.15403	CCT	MUC4	-	NULL	ENSG00000145113		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6		0.00	22	0	G	NM_018406		195510046	-1			no_errors	ENST00000463781	ensembl	human	known	74_37	missense	15.38	8	2	SNP	0.028	T
MUC5B	727897	genome.wustl.edu	37	11	1273604	1273604	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:1273604C>T	ENST00000529681.1	+	32	14953	c.14895C>T	c.(14893-14895)gcC>gcT	p.A4965A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.A4968A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4965					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGACCGAGCCGGCTGCCATT	0.572																																																	0													80.0	98.0	92.0					11																	1273604		2080	4206	6286	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14895C>T	11.37:g.1273604C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A4968	ENST00000529681.1	37	c.14904	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.572	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0.00	54	0	C	XM_001126093		1273604	+1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.219	T
MUTYH	4595	genome.wustl.edu	37	1	45797165	45797165	+	Missense_Mutation	SNP	C	C	T	rs373803765		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:45797165C>T	ENST00000372098.3	-	13	1374	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	MUTYH_ENST00000450313.1_Missense_Mutation_p.R417H|MUTYH_ENST00000456914.2_Missense_Mutation_p.R389H|MUTYH_ENST00000529984.1_Missense_Mutation_p.R84H|MUTYH_ENST00000372115.3_Missense_Mutation_p.R403H|MUTYH_ENST00000488731.2_Missense_Mutation_p.R84H|MUTYH_ENST00000528332.2_Missense_Mutation_p.R98H|MUTYH_ENST00000354383.6_Missense_Mutation_p.R390H|MUTYH_ENST00000528013.2_Missense_Mutation_p.R403H|MUTYH_ENST00000372100.5_Missense_Mutation_p.R400H|MUTYH_ENST00000355498.2_Missense_Mutation_p.R389H|MUTYH_ENST00000372110.3_Missense_Mutation_p.R404H|MUTYH_ENST00000448481.1_Missense_Mutation_p.R400H|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.R389H			Q9UIF7	MUTYH_HUMAN	mutY homolog	414	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAGGGCCTTGCGCTGAAGCTG	0.662			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																														yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	33.0	35.0	34.0		1208,1169,1166,1166,1250,1241	-1.6	0.0	1		34	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	MUTYH	NM_001048171.1,NM_001048172.1,NM_001048173.1,NM_001048174.1,NM_001128425.1,NM_012222.2	29,29,29,29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign,benign	403/536,390/523,389/522,389/522,417/550,414/547	45797165	2,13004	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1241G>A	1.37:g.45797165C>T	ENSP00000361170:p.Arg414His		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.R417H	ENST00000372098.3	37	c.1250	CCDS520.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.252|5.252	0.231964|0.231964	0.09969|0.09969	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000132781|ENSG00000132781	ENST00000529892|ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.67865	.|-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.4|5.4	-1.61|-1.61	0.08399|0.08399	.|NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	.|0.675264	.|0.15691	.|N	.|0.249435	T|T	0.55513|0.55513	0.1925|0.1925	L|L	0.60845|0.60845	1.875|1.875	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B;B	.|0.22211	.|0.066;0.018;0.001;0.03;0.001;0.018;0.01;0.018	.|B;B;B;B;B;B;B;B	.|0.17722	.|0.019;0.008;0.002;0.018;0.002;0.008;0.005;0.008	T|T	0.43015|0.43015	-0.9417|-0.9417	5|10	.|0.38643	.|T	.|0.18	0.1408|0.1408	7.7181|7.7181	0.28717|0.28717	0.112:0.3246:0.0:0.5634|0.112:0.3246:0.0:0.5634	.|.	.|98;417;414;404;414;403;297;390	.|B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.|.;.;.;.;MUTYH_HUMAN;.;.;.	T|H	81|84;98;389;400;389;390;389;414;404;403;84;417;400	.|ENSP00000437093:R84H;ENSP00000433076:R98H;ENSP00000361176:R389H;ENSP00000409718:R400H;ENSP00000407590:R389H;ENSP00000346354:R390H;ENSP00000347685:R389H;ENSP00000361170:R414H;ENSP00000361182:R404H;ENSP00000361187:R403H;ENSP00000432330:R84H;ENSP00000408176:R417H;ENSP00000361172:R400H	.|ENSP00000346354:R390H	A|R	-|-	1|2	0|0	MUTYH|MUTYH	45569752|45569752	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.357000|0.357000	0.29423|0.29423	-0.469000|-0.469000	0.06648|0.06648	-0.646000|-0.646000	0.05452|0.05452	-0.345000|-0.345000	0.07892|0.07892	GCA|CGC	MUTYH	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000132781		0.662	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1	-	0.00	55	0	C	NM_012222		45797165	-1	tier1	-	no_errors	ENST00000450313	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.000	T
MX2	4600	genome.wustl.edu	37	21	42749721	42749721	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:42749721C>T	ENST00000330714.3	+	3	439	c.255C>T	c.(253-255)ccC>ccT	p.P85P	MX2_ENST00000543692.1_Silent_p.P85P	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	85					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCAGGGGCCCGAGAACAACC	0.597																																																	0													68.0	64.0	65.0					21																	42749721		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.255C>T	21.37:g.42749721C>T			B7Z5D3|D3DSI7	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.P85	ENST00000330714.3	37	c.255	CCDS13672.1	21																																																																																			MX2	-	NULL	ENSG00000183486		0.597	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX2	HGNC	protein_coding	OTTHUMT00000195147.1	-	0.00	57	0	C	NM_002463		42749721	+1	tier1	-	no_errors	ENST00000330714	ensembl	human	known	74_37	silent	20.00	28	7	SNP	0.000	T
GJA9	81025	genome.wustl.edu	37	1	39340002	39340003	+	3'UTR	DEL	AA	AA	-	rs66539868	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:39340002_39340003delAA	ENST00000357771.3	-	0	2048_2049				MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000454994.2_Intron|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA	NM_030772.4	NP_110399.2	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa						cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GATATCATTTAAAAAAAAAAAA	0.327																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000357771.3:c.*221TT>-	1.37:g.39340012_39340013delAA			B2R722|B3KVQ2|Q5TA63|Q96KG0	RNA	DEL	-	NULL	ENST00000357771.3	37	NULL	CCDS432.1	1																																																																																			MYCBP	-	-	ENSG00000214114		0.327	GJA9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCBP	HGNC	protein_coding			0.00	8	0	AA	NM_030772		39340003	-1	tier1		no_errors	ENST00000462027	ensembl	human	known	74_37	rna	37.50	5	3	DEL	0.000:0.000	-
MYBPH	4608	genome.wustl.edu	37	1	203141132	203141132	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:203141132T>C	ENST00000255416.4	-	4	602	c.545A>G	c.(544-546)cAg>cGg	p.Q182R		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	182	Ig-like C2-type 1.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GATGTAGGTCTGACGGAGGTG	0.602																																					NSCLC(32;174 1025 14462 23899 42933)												0													33.0	32.0	32.0					1																	203141132		2203	4300	6503	SO:0001583	missense	0			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.545A>G	1.37:g.203141132T>C	ENSP00000255416:p.Gln182Arg		Q16886|Q86YC5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q182R	ENST00000255416.4	37	c.545	CCDS30975.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128417	0.77549	.	.	ENSG00000133055	ENST00000255416	T	0.40756	1.02	4.84	4.84	0.62591	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127304	0.36338	N	0.002658	T	0.62405	0.2425	M	0.72353	2.195	0.44254	D	0.9971	D	0.58268	0.982	D	0.71414	0.973	T	0.64927	-0.6292	10	0.52906	T	0.07	.	14.5467	0.68035	0.0:0.0:0.0:1.0	.	182	Q13203	MYBPH_HUMAN	R	182	ENSP00000255416:Q182R	ENSP00000255416:Q182R	Q	-	2	0	MYBPH	201407755	0.886000	0.30341	1.000000	0.80357	0.993000	0.82548	2.826000	0.48104	2.155000	0.67459	0.459000	0.35465	CAG	MYBPH	-	superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000133055		0.602	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	HGNC	protein_coding	OTTHUMT00000100264.1	-	0.00	61	0	T	NM_004997		203141132	-1	tier1	-	no_errors	ENST00000255416	ensembl	human	known	74_37	missense	10.45	60	7	SNP	1.000	C
MYCBP2	23077	genome.wustl.edu	37	13	77764414	77764414	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:77764414G>A	ENST00000544440.2	-	29	4030	c.4013C>T	c.(4012-4014)gCg>gTg	p.A1338V	MYCBP2_ENST00000407578.2_Missense_Mutation_p.A1376V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A1338V|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TATCTGACCCGCATTAACATC	0.299																																																	0													97.0	96.0	96.0					13																	77764414		2203	4293	6496	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4013C>T	13.37:g.77764414G>A	ENSP00000444596:p.Ala1338Val			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.A1376V	ENST00000544440.2	37	c.4127		13	.	.	.	.	.	.	.	.	.	.	G	35	5.471258	0.96274	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30182	1.55;1.54;1.55	5.55	5.55	0.83447	PHR (1);	0.134451	0.49305	D	0.000146	T	0.45498	0.1345	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.42515	-0.9447	10	0.72032	D	0.01	.	19.4525	0.94873	0.0:0.0:1.0:0.0	.	1338	O75592	MYCB2_HUMAN	V	1338;1376;1338	ENSP00000349892:A1338V;ENSP00000384288:A1376V;ENSP00000444596:A1338V	ENSP00000349892:A1338V	A	-	2	0	MYCBP2	76662415	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.144000	0.94629	2.767000	0.95098	0.563000	0.77884	GCG	MYCBP2	-	pfam_PHR,superfamily_ARM-type_fold	ENSG00000005810		0.299	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0.00	53	0	G	NM_015057		77764414	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A
MYCBP2	23077	genome.wustl.edu	37	13	77842008	77842008	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:77842008G>A	ENST00000544440.2	-	8	1228	c.1211C>T	c.(1210-1212)aCa>aTa	p.T404I	MYCBP2_ENST00000407578.2_Missense_Mutation_p.T442I|MYCBP2_ENST00000357337.6_Missense_Mutation_p.T404I|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGCTCCAGTGTTTCAGGGCT	0.333																																																	0													166.0	146.0	153.0					13																	77842008		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1211C>T	13.37:g.77842008G>A	ENSP00000444596:p.Thr404Ile			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.T442I	ENST00000544440.2	37	c.1325		13	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933965	0.92458	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.50001	0.76;0.76;0.76	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	L	0.57536	1.79	0.80722	D	1	B	0.32968	0.392	B	0.31191	0.125	T	0.52124	-0.8617	10	0.87932	D	0	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	404	O75592	MYCB2_HUMAN	I	404;442;404	ENSP00000349892:T404I;ENSP00000384288:T442I;ENSP00000444596:T404I	ENSP00000349892:T404I	T	-	2	0	MYCBP2	76740009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.727000	0.93392	0.591000	0.81541	ACA	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.333	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0.00	59	0	G	NM_015057		77842008	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	10.17	53	6	SNP	1.000	A
MYD88	4615	genome.wustl.edu	37	3	38182018	38182018	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:38182018C>T	ENST00000396334.3	+	3	826	c.642C>T	c.(640-642)ggC>ggT	p.G214G	MYD88_ENST00000417037.2_Silent_p.G214G|MYD88_ENST00000495303.1_Intron|MYD88_ENST00000424893.1_Silent_p.G169G|MYD88_ENST00000443433.2_Intron|MYD88_ENST00000481122.1_3'UTR	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	201	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCTGCCTGGCACCTGTGTCT	0.567			Mis		ABC-DLBCL																																			Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	0													158.0	140.0	146.0					3																	38182018		2203	4300	6503	SO:0001819	synonymous_variant	0			U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"""myeloid differentiation primary response gene (88)"""			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000396334.3:c.642C>T	3.37:g.38182018C>T			B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Silent	SNP	pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom	p.G214	ENST00000396334.3	37	c.642	CCDS2674.2	3																																																																																			MYD88	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_TIR_dom	ENSG00000172936		0.567	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYD88	HGNC	protein_coding	OTTHUMT00000253743.4	-	0.00	62	0	C	NM_002468		38182018	+1	tier1	-	no_errors	ENST00000417037	ensembl	human	known	74_37	silent	28.36	48	19	SNP	1.000	T
MYH11	4629	genome.wustl.edu	37	16	15815323	15815323	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:15815323C>T	ENST00000300036.5	-	32	4643	c.4534G>A	c.(4534-4536)Gaa>Aaa	p.E1512K	NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.E1519K|MYH11_ENST00000576790.2_Missense_Mutation_p.E1512K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1519K|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1512					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTTCCATTTCGGCTTTGAGC	0.567			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													132.0	110.0	118.0					16																	15815323		2197	4300	6497	SO:0001583	missense	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4534G>A	16.37:g.15815323C>T	ENSP00000300036:p.Glu1512Lys		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E1519K	ENST00000300036.5	37	c.4555	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.256252	0.95336	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.84	4.84	0.62591	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.93216	0.7839	M	0.93283	3.4	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.74023	0.982;0.982;0.982;0.969;0.982	D	0.95094	0.8224	10	0.87932	D	0	.	16.9271	0.86179	0.0:1.0:0.0:0.0	.	1519;1512;1519;1512;1519	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	1512;1512;1519;1519;1519	ENSP00000300036:E1512K;ENSP00000345136:E1512K;ENSP00000379616:E1519K;ENSP00000407821:E1519K	ENSP00000300036:E1512K	E	-	1	0	MYH11	15722824	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	7.770000	0.85390	2.224000	0.72417	0.313000	0.20887	GAA	MYH11	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000133392		0.567	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	-	0.00	80	0	C	NM_001040113		15815323	-1	tier1	-	no_errors	ENST00000396324	ensembl	human	known	74_37	missense	26.98	46	17	SNP	1.000	T
MYH14	79784	genome.wustl.edu	37	19	50784954	50784954	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50784954G>A	ENST00000596571.1	+	30	4271	c.4271G>A	c.(4270-4272)cGc>cAc	p.R1424H	MYH14_ENST00000440075.2_Missense_Mutation_p.R1465H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1465H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1432H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1457H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1432H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1465H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1424					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGACCCAGCGCCTGGCAGAA	0.746																																																	0													10.0	16.0	14.0					19																	50784954		1954	4066	6020	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4271G>A	19.37:g.50784954G>A	ENSP00000472819:p.Arg1424His		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1465H	ENST00000596571.1	37	c.4394	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286594	0.80803	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	3.75	3.75	0.43078	Myosin tail (1);	.	.	.	.	T	0.79173	0.4401	L	0.33339	1.005	0.34889	D	0.745369	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.66847	0.912;0.947;0.94	T	0.78319	-0.2250	9	0.17832	T	0.49	.	13.5192	0.61557	0.0:0.0:1.0:0.0	.	1465;1424;1432	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1424;1465;1457;1432;1465	ENSP00000406273:R1465H;ENSP00000366169:R1457H;ENSP00000407879:R1432H;ENSP00000262269:R1465H	ENSP00000262269:R1465H	R	+	2	0	MYH14	55476766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.992000	0.63889	2.126000	0.65437	0.555000	0.69702	CGC	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.746	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2		0.00	24	0	G	NM_024729		50784954	+1			no_errors	ENST00000262269	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	A
MYH2	4620	genome.wustl.edu	37	17	10429940	10429940	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10429940C>T	ENST00000245503.5	-	30	4547	c.4163G>A	c.(4162-4164)cGc>cAc	p.R1388H	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1388H|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1388					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1388H(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCTGTGCGCTGGATGGC	0.512																																																	2	Substitution - Missense(2)	ovary(1)|kidney(1)											175.0	162.0	166.0					17																	10429940		2203	4300	6503	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4163G>A	17.37:g.10429940C>T	ENSP00000245503:p.Arg1388His		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1388H	ENST00000245503.5	37	c.4163	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.504663	0.96371	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80480	-1.38;-1.38	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.40144	U	0.001162	D	0.91402	0.7287	M	0.89030	3	0.58432	D	0.999997	D	0.89917	1.0	D	0.74023	0.982	D	0.92664	0.6144	10	0.87932	D	0	.	18.9148	0.92501	0.0:1.0:0.0:0.0	.	1388	Q9UKX2	MYH2_HUMAN	H	1388	ENSP00000245503:R1388H;ENSP00000380367:R1388H	ENSP00000245503:R1388H	R	-	2	0	MYH2	10370665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.703000	0.92315	0.655000	0.94253	CGC	MYH2	-	pfam_Myosin_tail,superfamily_Ribosomal_L29	ENSG00000125414		0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0.00	92	0	C	NM_017534		10429940	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
MYH3	4621	genome.wustl.edu	37	17	10546239	10546239	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10546239G>A	ENST00000583535.1	-	15	1572	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	MYH3_ENST00000226209.7_Silent_p.F495F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	495	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTCCAGCACGAACATGTGGT	0.463																																																	0													163.0	143.0	150.0					17																	10546239		2203	4297	6500	SO:0001819	synonymous_variant	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1485C>T	17.37:g.10546239G>A			Q15492	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F495	ENST00000583535.1	37	c.1485	CCDS11157.1	17																																																																																			MYH3	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000109063		0.463	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0.00	227	0	G	NM_002470		10546239	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	silent	28.78	146	59	SNP	1.000	A
MYH4	4622	genome.wustl.edu	37	17	10348449	10348449	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10348449A>G	ENST00000255381.2	-	37	5420	c.5310T>C	c.(5308-5310)gcT>gcC	p.A1770A	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1770					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGCTCCTCAGCCATCATGG	0.483																																																	0													129.0	126.0	127.0					17																	10348449		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5310T>C	17.37:g.10348449A>G				Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1770	ENST00000255381.2	37	c.5310	CCDS11154.1	17																																																																																			MYH4	-	pfam_Myosin_tail	ENSG00000264424		0.483	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	-	0.00	116	0	A	NM_017533		10348449	-1	tier1	-	no_errors	ENST00000255381	ensembl	human	known	74_37	silent	26.83	90	33	SNP	0.010	G
MYH3	4621	genome.wustl.edu	37	17	10543993	10543993	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10543993G>T	ENST00000583535.1	-	20	2263	c.2176C>A	c.(2176-2178)Ctg>Atg	p.L726M	MYH3_ENST00000226209.7_Missense_Mutation_p.L726M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	726	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ctggcattcagcactcggtat	0.443																																																	0													94.0	81.0	86.0					17																	10543993		2203	4300	6503	SO:0001583	missense	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2176C>A	17.37:g.10543993G>T	ENSP00000464317:p.Leu726Met		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L726M	ENST00000583535.1	37	c.2176	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682653	0.47991	.	.	ENSG00000109063	ENST00000226209	D	0.92299	-3.01	5.74	0.32	0.15878	Myosin head, motor domain (2);	.	.	.	.	D	0.96790	0.8952	H	0.96111	3.77	0.33476	D	0.58687	D	0.89917	1.0	D	0.87578	0.998	D	0.96407	0.9301	9	0.72032	D	0.01	.	10.9126	0.47118	0.3212:0.0:0.6788:0.0	.	726	P11055	MYH3_HUMAN	M	726	ENSP00000226209:L726M	ENSP00000226209:L726M	L	-	1	2	MYH3	10484718	0.007000	0.16637	0.994000	0.49952	0.815000	0.46073	0.167000	0.16602	0.154000	0.19237	0.561000	0.74099	CTG	MYH3	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000109063		0.443	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2		0.00	44	0	G	NM_002470		10543993	-1			no_errors	ENST00000226209	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.901	T
MYH3	4621	genome.wustl.edu	37	17	10546312	10546312	+	Splice_Site	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10546312T>A	ENST00000583535.1	-	15	1499	c.1412A>T	c.(1411-1413)tAt>tTt	p.Y471F	MYH3_ENST00000226209.7_Splice_Site_p.Y471F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	471	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CAGGCTGTTATACTAATAAAA	0.418																																																	0													91.0	85.0	87.0					17																	10546312		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1411-1A>T	17.37:g.10546312T>A			Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Y471F	ENST00000583535.1	37	c.1412	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	T	1.482	-0.556895	0.03967	.	.	ENSG00000109063	ENST00000226209	D	0.86865	-2.18	4.6	3.48	0.39840	Myosin head, motor domain (3);	.	.	.	.	T	0.63663	0.2530	N	0.01729	-0.75	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.58973	-0.7541	9	0.02654	T	1	.	9.1646	0.37043	0.4127:0.0:0.0:0.5873	.	471	P11055	MYH3_HUMAN	F	471	ENSP00000226209:Y471F	ENSP00000226209:Y471F	Y	-	2	0	MYH3	10487037	0.999000	0.42202	0.996000	0.52242	0.982000	0.71751	1.938000	0.40203	0.861000	0.35504	0.528000	0.53228	TAT	MYH3	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000109063		0.418	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0.00	143	0	T	NM_002470	Missense_Mutation	10546312	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	10.94	114	14	SNP	1.000	A
MYH6	4624	genome.wustl.edu	37	14	23859522	23859522	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:23859522G>A	ENST00000356287.3	-	25	3505	c.3476C>T	c.(3475-3477)aCg>aTg	p.T1159M	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.T1159M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1159					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGCACGGACGTGGCCCCGCC	0.682																																																	0													8.0	10.0	9.0					14																	23859522		2059	4074	6133	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3476C>T	14.37:g.23859522G>A	ENSP00000348634:p.Thr1159Met		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1159M	ENST00000356287.3	37	c.3476	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	g	21.4	4.146530	0.77888	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.85258	-1.96;-1.96	4.25	4.25	0.50352	Myosin tail (1);	.	.	.	.	D	0.95053	0.8398	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97093	0.9792	9	0.87932	D	0	.	17.0442	0.86498	0.0:0.0:1.0:0.0	.	1159	P13533	MYH6_HUMAN	M	1159	ENSP00000386041:T1159M;ENSP00000348634:T1159M	ENSP00000348634:T1159M	T	-	2	0	MYH6	22929362	1.000000	0.71417	0.980000	0.43619	0.720000	0.41350	9.447000	0.97595	2.092000	0.63282	0.561000	0.74099	ACG	MYH6	-	pfam_Myosin_tail	ENSG00000197616		0.682	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0.00	47	0	G			23859522	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	A
MYH6	4624	genome.wustl.edu	37	14	23862717	23862717	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:23862717A>G	ENST00000356287.3	-	22	2968	c.2939T>C	c.(2938-2940)cTa>cCa	p.L980P	MYH6_ENST00000405093.3_Missense_Mutation_p.L980P			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	980					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCCTCTGTTAGGTTCTTCAC	0.532																																																	0													173.0	171.0	172.0					14																	23862717		2203	4300	6503	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2939T>C	14.37:g.23862717A>G	ENSP00000348634:p.Leu980Pro		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L980P	ENST00000356287.3	37	c.2939	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	a	21.6	4.168380	0.78339	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.92149	-2.98;-2.98	5.12	5.12	0.69794	.	.	.	.	.	D	0.96956	0.9006	H	0.96970	3.915	0.80722	D	1	D	0.60160	0.987	P	0.59171	0.853	D	0.98281	1.0508	9	0.87932	D	0	.	15.2119	0.73230	1.0:0.0:0.0:0.0	.	980	P13533	MYH6_HUMAN	P	980	ENSP00000386041:L980P;ENSP00000348634:L980P	ENSP00000348634:L980P	L	-	2	0	MYH6	22932557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.210000	0.77924	2.067000	0.61834	0.528000	0.53228	CTA	MYH6	-	NULL	ENSG00000197616		0.532	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0.00	60	0	A			23862717	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	11.11	48	6	SNP	1.000	G
MYH7	4625	genome.wustl.edu	37	14	23891440	23891440	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:23891440C>A	ENST00000355349.3	-	25	3356	c.3194G>T	c.(3193-3195)aGc>aTc	p.S1065I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1065					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTCCATGATGCTCTCCTGGGT	0.592																																																	0													155.0	120.0	132.0					14																	23891440		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3194G>T	14.37:g.23891440C>A	ENSP00000347507:p.Ser1065Ile		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1065I	ENST00000355349.3	37	c.3194	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840408	0.51057	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95447	-3.71	4.64	4.64	0.57946	.	.	.	.	.	D	0.96087	0.8725	M	0.88979	2.995	0.42193	D	0.991732	P	0.38729	0.644	B	0.44044	0.439	D	0.96364	0.9268	9	0.87932	D	0	.	9.894	0.41306	0.0:0.7793:0.142:0.0787	.	1065	P12883	MYH7_HUMAN	I	1065	ENSP00000347507:S1065I	ENSP00000347507:S1065I	S	-	2	0	MYH7	22961280	0.009000	0.17119	1.000000	0.80357	0.999000	0.98932	0.464000	0.21988	2.585000	0.87301	0.655000	0.94253	AGC	MYH7	-	superfamily_Prefoldin	ENSG00000092054		0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0.00	79	0	C	NM_000257		23891440	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	17.07	68	14	SNP	1.000	A
TRPC4AP	26133	genome.wustl.edu	37	20	33587382	33587382	+	IGR	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:33587382A>G	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.S1559G			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGAGGAGATCAGCGACCTCAC	0.602																																																	0													48.0	55.0	52.0					20																	33587382		2134	4253	6387	SO:0001628	intergenic_variant	0			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33587382A>G			E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1559G	ENST00000252015.2	37	c.4675	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422261	0.25639	.	.	ENSG00000078814	ENST00000262873	D	0.83163	-1.69	4.22	4.22	0.49857	Myosin tail (1);	0.000000	0.40640	N	0.001044	T	0.80341	0.4605	M	0.79614	2.46	0.26058	N	0.981399	B	0.30146	0.27	B	0.28916	0.096	T	0.75451	-0.3313	10	0.66056	D	0.02	.	6.5161	0.22248	0.8098:0.0:0.1902:0.0	.	1517	A7E2Y1	MYH7B_HUMAN	G	1559	ENSP00000262873:S1559G	ENSP00000262873:S1559G	S	+	1	0	MYH7B	33051043	0.139000	0.22563	1.000000	0.80357	0.630000	0.37929	0.253000	0.18296	1.907000	0.55213	0.454000	0.30748	AGC	MYH7B	-	pfam_Myosin_tail,superfamily_t-SNARE	ENSG00000078814		0.602	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078832.2	-	0.00	55	0	A	NM_015638		33587382	+1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	7.14	52	4	SNP	0.998	G
MYH8	4626	genome.wustl.edu	37	17	10309410	10309410	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10309410C>T	ENST00000403437.2	-	21	2474	c.2380G>A	c.(2380-2382)Gtc>Atc	p.V794I	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	794	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCCCTACAGACAGCTTGTGTT	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													171.0	165.0	167.0					17																	10309410		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2380G>A	17.37:g.10309410C>T	ENSP00000384330:p.Val794Ile		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V794I	ENST00000403437.2	37	c.2380	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	7.582	0.668949	0.14776	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.71817	-0.6	5.22	3.19	0.36642	.	0.587579	0.13389	U	0.391576	T	0.54029	0.1833	L	0.27053	0.805	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.35943	-0.9768	10	0.22706	T	0.39	.	8.7515	0.34618	0.0:0.7029:0.0:0.2971	.	794	P13535	MYH8_HUMAN	I	794	ENSP00000384330:V794I	ENSP00000252173:V794I	V	-	1	0	MYH8	10250135	0.000000	0.05858	0.937000	0.37676	0.985000	0.73830	-0.076000	0.11412	1.451000	0.47736	0.650000	0.86243	GTC	MYH8	-	superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	ENSG00000133020		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	-	0.00	53	0	C	NM_002472		10309410	-1	tier1	-	no_errors	ENST00000403437	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.114	T
MYH8	4626	genome.wustl.edu	37	17	10318470	10318470	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10318470A>G	ENST00000403437.2	-	9	862	c.768T>C	c.(766-768)ggT>ggC	p.G256G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	256	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.G256G(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCCTGTAGTACCAAAGTGGA	0.343									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								1	Substitution - coding silent(1)	breast(1)											138.0	147.0	144.0					17																	10318470		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.768T>C	17.37:g.10318470A>G			Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G256	ENST00000403437.2	37	c.768	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133020		0.343	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2		0.00	60	0	A	NM_002472		10318470	-1			no_errors	ENST00000403437	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.725	G
MYL9	10398	genome.wustl.edu	37	20	35176560	35176560	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:35176560C>T	ENST00000279022.2	+	3	414	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	RP5-977B1.7_ENST00000439595.1_RNA|MYL9_ENST00000346786.2_Intron|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	104	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGATGTGATTCGCAACGCCTT	0.617																																																	0													110.0	76.0	88.0					20																	35176560		2203	4300	6503	SO:0001583	missense	0			J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.310C>T	20.37:g.35176560C>T	ENSP00000279022:p.Arg104Cys		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R104C	ENST00000279022.2	37	c.310	CCDS13276.1	20	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399320	0.83120	.	.	ENSG00000101335	ENST00000279022	T	0.73575	-0.76	4.86	4.86	0.63082	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88440	0.6437	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	D	0.90636	0.4571	10	0.62326	D	0.03	.	12.1073	0.53820	0.1716:0.8283:0.0:0.0	.	104	P24844	MYL9_HUMAN	C	104	ENSP00000279022:R104C	ENSP00000279022:R104C	R	+	1	0	MYL9	34609974	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.462000	0.45049	2.407000	0.81776	0.655000	0.94253	CGC	MYL9	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000101335		0.617	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL9	HGNC	protein_coding	OTTHUMT00000079015.2	-	0.00	67	0	C	NM_006097		35176560	+1	tier1	-	no_errors	ENST00000279022	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	T
MYLK	4638	genome.wustl.edu	37	3	123419012	123419012	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:123419012C>T	ENST00000475616.1	-	15	3302	c.3303G>A	c.(3301-3303)aaG>aaA	p.K1101K	MYLK_ENST00000360304.3_Silent_p.K1101K|MYLK_ENST00000346322.5_Silent_p.K1032K|MYLK_ENST00000360772.3_Silent_p.K1101K|MYLK_ENST00000359169.1_Silent_p.K1101K|MYLK_ENST00000510775.1_5'Flank			Q15746	MYLK_HUMAN	myosin light chain kinase	1101	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGCTTCTGCTTGAAGGCTG	0.537																																																	0													116.0	116.0	116.0					3																	123419012		2203	4300	6503	SO:0001819	synonymous_variant	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3303G>A	3.37:g.123419012C>T			B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K1101	ENST00000475616.1	37	c.3303	CCDS46896.1	3																																																																																			MYLK	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000065534		0.537	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	-	0.00	35	0	C	NM_053025		123419012	-1	tier1	-	no_errors	ENST00000360304	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.929	T
MYLK	4638	genome.wustl.edu	37	3	123451928	123451928	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:123451928T>C	ENST00000475616.1	-	8	1330	c.1331A>G	c.(1330-1332)gAa>gGa	p.E444G	MYLK_ENST00000360304.3_Missense_Mutation_p.E444G|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360772.3_Missense_Mutation_p.E444G|MYLK_ENST00000359169.1_Missense_Mutation_p.E444G			Q15746	MYLK_HUMAN	myosin light chain kinase	444	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCAGGCCACTTCAGGCTTTGG	0.562																																																	0													44.0	41.0	42.0					3																	123451928		2203	4300	6503	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1331A>G	3.37:g.123451928T>C	ENSP00000418335:p.Glu444Gly		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E444G	ENST00000475616.1	37	c.1331	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286705	0.40494	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.42	4.26	0.50523	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64724	0.2624	M	0.74467	2.265	0.09310	N	1	B;B;B	0.32918	0.185;0.338;0.39	B;B;B	0.34452	0.124;0.115;0.183	T	0.61232	-0.7104	9	0.54805	T	0.06	.	6.9139	0.24349	0.0:0.084:0.1627:0.7532	.	444;444;444	Q15746-6;Q15746-3;Q15746	.;.;MYLK_HUMAN	G	444	ENSP00000354004:E444G;ENSP00000353452:E444G;ENSP00000352088:E444G;ENSP00000418335:E444G	ENSP00000352088:E444G	E	-	2	0	MYLK	124934618	0.929000	0.31497	0.850000	0.33497	0.987000	0.75469	1.143000	0.31553	2.277000	0.76020	0.533000	0.62120	GAA	MYLK	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000065534		0.562	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1		0.00	21	0	T	NM_053025		123451928	-1			no_errors	ENST00000360304	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.010	C
MYLK	4638	genome.wustl.edu	37	3	123453042	123453042	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:123453042G>A	ENST00000475616.1	-	7	800	c.801C>T	c.(799-801)acC>acT	p.T267T	MYLK_ENST00000360304.3_Silent_p.T267T|MYLK_ENST00000346322.5_Silent_p.T267T|MYLK_ENST00000360772.3_Silent_p.T267T|MYLK_ENST00000359169.1_Silent_p.T267T			Q15746	MYLK_HUMAN	myosin light chain kinase	267					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CATCTGAATTGGTGGCTTTTG	0.512																																																	0													89.0	84.0	85.0					3																	123453042		2203	4300	6503	SO:0001819	synonymous_variant	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.801C>T	3.37:g.123453042G>A			B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T267	ENST00000475616.1	37	c.801	CCDS46896.1	3																																																																																			MYLK	-	NULL	ENSG00000065534		0.512	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	-	0.00	22	0	G	NM_053025		123453042	-1	tier1	-	no_errors	ENST00000360304	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.001	A
MYO15A	51168	genome.wustl.edu	37	17	18058717	18058717	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:18058717C>T	ENST00000205890.5	+	47	8768	c.8430C>T	c.(8428-8430)ggC>ggT	p.G2810G	MYO15A_ENST00000585180.1_Missense_Mutation_p.R73W|MYO15A_ENST00000418233.3_Silent_p.G74G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2810	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGAGGCCGGCGGGCAGCTGC	0.647																																																	0													43.0	53.0	50.0					17																	18058717		2089	4231	6320	SO:0001819	synonymous_variant	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8430C>T	17.37:g.18058717C>T			B4DFC7	Missense_Mutation	SNP	NULL	p.R73W	ENST00000205890.5	37	c.217	CCDS42271.1	17																																																																																			MYO15A	-	NULL	ENSG00000091536		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0.00	72	0	C	NM_016239		18058717	+1	tier1	-	no_errors	ENST00000585180	ensembl	human	putative	74_37	missense	29.03	44	18	SNP	0.000	T
RECQL5	9400	genome.wustl.edu	37	17	73621202	73621202	+	IGR	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:73621202G>T	ENST00000317905.5	-	0	3704				MYO15B_ENST00000578382.2_Splice_Site|RECQL5_ENST00000443199.2_5'Flank	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCCCGCACAGGTGCTGTGGG	0.657								Other identified genes with known or suspected DNA repair function																																									0																																										SO:0001628	intergenic_variant	0			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762			17.37:g.73621202G>T			Q9H0B1|Q9P1W7|Q9UNC8	Splice_Site	SNP	-	NULL	ENST00000317905.5	37	c.NULL	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773674	0.31411	.	.	ENSG00000188126	ENST00000293201	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7302	0.69374	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO15B	71132797	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	4.577000	0.60922	2.504000	0.84457	0.561000	0.74099	.	MYO15B	-	-	ENSG00000266714		0.657	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MYO15B	HGNC	protein_coding	OTTHUMT00000448207.1	-	0.00	34	0	G	NM_004259		73621202	+1	tier1	-	no_errors	ENST00000577948	ensembl	human	known	74_37	splice_site	14.29	30	5	SNP	1.000	T
MYO16	23026	genome.wustl.edu	37	13	109496836	109496836	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:109496836G>A	ENST00000357550.2	+	9	1218	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	MYO16_ENST00000251041.5_Missense_Mutation_p.E393K|MYO16_ENST00000356711.2_Missense_Mutation_p.E393K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CACCAAACCCGAGCAGGTAAT	0.388																																																	0													107.0	104.0	105.0					13																	109496836		2203	4300	6503	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1177G>A	13.37:g.109496836G>A	ENSP00000350160:p.Glu393Lys			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E393K	ENST00000357550.2	37	c.1177	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531209	0.64972	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	D;D;D	0.95238	-3.65;-3.65;-3.65	5.31	5.31	0.75309	.	0.000000	0.40908	U	0.000982	D	0.96809	0.8958	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65684	0.9;0.937	D	0.96396	0.9293	9	.	.	.	.	18.3404	0.90303	0.0:0.0:1.0:0.0	.	393;393	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	K	393;393;393;393;181	ENSP00000349145:E393K;ENSP00000350160:E393K;ENSP00000251041:E393K	.	E	+	1	0	MYO16	108294837	1.000000	0.71417	0.944000	0.38274	0.240000	0.25518	5.514000	0.67043	2.638000	0.89438	0.650000	0.86243	GAG	MYO16	-	superfamily_P-loop_NTPase	ENSG00000041515		0.388	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0.00	50	0	G	NM_015011		109496836	+1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.998	A
MYO16	23026	genome.wustl.edu	37	13	109792756	109792756	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:109792756C>T	ENST00000357550.2	+	31	4171	c.4130C>T	c.(4129-4131)gCg>gTg	p.A1377V	MYO16_ENST00000356711.2_Missense_Mutation_p.A1377V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			gcgaggcccgcgggcgccccg	0.731																																																	0													11.0	11.0	11.0					13																	109792756		2113	4119	6232	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4130C>T	13.37:g.109792756C>T	ENSP00000350160:p.Ala1377Val			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1377V	ENST00000357550.2	37	c.4130	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	6.688	0.495621	0.12762	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.43688	0.94;0.94	4.69	-1.26	0.09376	.	2.279270	0.02735	U	0.115553	T	0.21841	0.0526	N	0.12182	0.205	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.07046	-1.0793	9	.	.	.	.	2.286	0.04126	0.1201:0.4232:0.1334:0.3233	.	1377	Q9Y6X6	MYO16_HUMAN	V	1377	ENSP00000349145:A1377V;ENSP00000350160:A1377V	.	A	+	2	0	MYO16	108590757	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-0.459000	0.06728	-0.205000	0.10219	0.305000	0.20034	GCG	MYO16	-	NULL	ENSG00000041515		0.731	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0.00	50	0	C	NM_015011		109792756	+1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	18.87	43	10	SNP	0.000	T
MYO1A	4640	genome.wustl.edu	37	12	57422573	57422573	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:57422573delT	ENST00000442789.2	-	29	3385	c.3098delA	c.(3097-3099)aagfs	p.K1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Frame_Shift_Del_p.K871fs|MYO1A_ENST00000300119.3_Frame_Shift_Del_p.K1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGACTCCCCTTTTTTTTGTA	0.557																																																	1	Unknown(1)	skin(1)											230.0	188.0	202.0					12																	57422573		2203	4300	6503	SO:0001589	frameshift_variant	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3098delA	12.37:g.57422573delT	ENSP00000393392:p.Lys1033fs		Q9UQD7	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.K1033fs	ENST00000442789.2	37	c.3098	CCDS8929.1	12																																																																																			MYO1A	-	pfam_Myosin_tail_2	ENSG00000166866		0.557	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2		0.00	66	0	T	NM_005379		57422573	-1	tier1		no_errors	ENST00000300119	ensembl	human	known	74_37	frame_shift_del	14.29	48	8	DEL	1.000	-
MYO3A	53904	genome.wustl.edu	37	10	26455081	26455081	+	Missense_Mutation	SNP	G	G	A	rs56403976		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:26455081G>A	ENST00000265944.5	+	27	3251	c.3085G>A	c.(3085-3087)Gat>Aat	p.D1029N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1029	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCTGGTCTCGATAACTGGGC	0.403																																																	0													112.0	120.0	117.0					10																	26455081		2203	4300	6503	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3085G>A	10.37:g.26455081G>A	ENSP00000265944:p.Asp1029Asn		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.D1029N	ENST00000265944.5	37	c.3085	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379520	0.82682	.	.	ENSG00000095777	ENST00000265944	T	0.72615	-0.67	6.07	5.16	0.70880	Myosin head, motor domain (2);	0.183467	0.56097	D	0.000021	T	0.71913	0.3396	L	0.51853	1.615	0.80722	D	1	P	0.44690	0.841	P	0.46940	0.532	T	0.75326	-0.3357	10	0.72032	D	0.01	.	15.1232	0.72460	0.0673:0.0:0.9327:0.0	rs56403976	1029	Q8NEV4	MYO3A_HUMAN	N	1029	ENSP00000265944:D1029N	ENSP00000265944:D1029N	D	+	1	0	MYO3A	26495087	1.000000	0.71417	0.948000	0.38648	0.991000	0.79684	6.203000	0.72137	1.575000	0.49775	0.650000	0.86243	GAT	MYO3A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000095777		0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	-	0.00	66	0	G	NM_017433		26455081	+1	tier1	rs56403976	no_errors	ENST00000265944	ensembl	human	known	74_37	missense	33.33	56	28	SNP	1.000	A
MYO5B	4645	genome.wustl.edu	37	18	47500881	47500881	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:47500881G>T	ENST00000285039.7	-	10	1460	c.1161C>A	c.(1159-1161)acC>acA	p.T387T		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	387	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTTGACGTAGGTCTCCGAGG	0.562																																																	0													170.0	175.0	173.0					18																	47500881		2178	4274	6452	SO:0001819	synonymous_variant	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1161C>A	18.37:g.47500881G>T			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T387	ENST00000285039.7	37	c.1161	CCDS42436.1	18																																																																																			MYO5B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000167306		0.562	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2		0.00	34	0	G			47500881	-1			no_errors	ENST00000285039	ensembl	human	known	74_37	silent	7.69	36	3	SNP	1.000	T
MYO5C	55930	genome.wustl.edu	37	15	52504030	52504030	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:52504030T>C	ENST00000261839.7	-	35	4354	c.4193A>G	c.(4192-4194)cAt>cGt	p.H1398R		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1398						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GAACAGGATATGAGCCGGCAG	0.532																																																	0													103.0	110.0	107.0					15																	52504030		2156	4265	6421	SO:0001583	missense	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4193A>G	15.37:g.52504030T>C	ENSP00000261839:p.His1398Arg		Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.H1398R	ENST00000261839.7	37	c.4193	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845008	0.91197	.	.	ENSG00000128833	ENST00000261839	T	0.16897	2.31	5.79	5.79	0.91817	.	0.059867	0.64402	D	0.000003	T	0.25680	0.0625	L	0.43152	1.355	0.80722	D	1	D	0.54047	0.964	P	0.50791	0.65	T	0.00514	-1.1695	10	0.49607	T	0.09	.	16.1311	0.81442	0.0:0.0:0.0:1.0	.	1398	Q9NQX4	MYO5C_HUMAN	R	1398	ENSP00000261839:H1398R	ENSP00000261839:H1398R	H	-	2	0	MYO5C	50291322	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.069000	0.64370	2.208000	0.71279	0.460000	0.39030	CAT	MYO5C	-	NULL	ENSG00000128833		0.532	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1		0.00	60	0	T	NM_018728		52504030	-1			no_errors	ENST00000261839	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	C
MYO7A	4647	genome.wustl.edu	37	11	76867057	76867058	+	Frame_Shift_Ins	INS	-	-	C	rs111033187|rs377214759		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:76867057_76867058insC	ENST00000409709.3	+	5	662_663	c.390_391insC	c.(391-393)cccfs	p.P131fs	MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.P131fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.P120fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.P131fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	131	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGGGGAGATGCCCCCCCACAT	0.564																																																	0									,,	18,3916		0,18,1949				http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,,	5.1	1.0		dbSNP_132	51	12,8042		0,12,4015	no	frameshift,frameshift,frameshift	MYO7A	NM_001127180.1,NM_001127179.2,NM_000260.3	,,	0,30,5964	A1A1,A1R,RR		0.149,0.4575,0.2503	,,	,,		30,11958				SO:0001589	frameshift_variant	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.397dupC	11.37:g.76867064_76867064dupC	ENSP00000386331:p.Pro131fs		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.H132fs	ENST00000409709.3	37	c.390_391	CCDS53683.1	11																																																																																			MYO7A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000137474		0.564	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1		0.00	57	0	-	NM_000260		76867058	+1	tier1		no_errors	ENST00000409709	ensembl	human	known	74_37	frame_shift_ins	21.74	36	10	INS	1.000:1.000	C
MYO7A	4647	genome.wustl.edu	37	11	76890120	76890120	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:76890120C>T	ENST00000409709.3	+	20	2584	c.2312C>T	c.(2311-2313)gCc>gTc	p.A771V	MYO7A_ENST00000409893.1_Missense_Mutation_p.A771V|MYO7A_ENST00000409619.2_Missense_Mutation_p.A760V|MYO7A_ENST00000458637.2_Missense_Mutation_p.A771V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	771	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGAACGCTGCCACACTGATC	0.577																																																	0													36.0	42.0	40.0					11																	76890120		2121	4221	6342	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2312C>T	11.37:g.76890120C>T	ENSP00000386331:p.Ala771Val		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.A771V	ENST00000409709.3	37	c.2312	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623739	0.28889	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.87	4.87	0.63330	.	0.067663	0.64402	D	0.000016	T	0.37265	0.0997	L	0.49513	1.565	0.49051	D	0.999746	B;B;B	0.15473	0.013;0.008;0.012	B;B;B	0.23419	0.032;0.046;0.036	T	0.17961	-1.0352	10	0.33940	T	0.23	.	10.5943	0.45327	0.0:0.9011:0.0:0.0989	.	771;771;771	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	V	771;771;771;760;770;770;647;770	ENSP00000386331:A771V;ENSP00000386689:A771V;ENSP00000392185:A771V;ENSP00000386635:A760V	ENSP00000345075:A647V	A	+	2	0	MYO7A	76567768	0.880000	0.30214	0.773000	0.31616	0.073000	0.16967	0.868000	0.27982	2.272000	0.75746	0.289000	0.19496	GCC	MYO7A	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000137474		0.577	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	-	0.00	30	0	C	NM_000260		76890120	+1	tier1	-	no_errors	ENST00000409709	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.789	T
MYO9B	4650	genome.wustl.edu	37	19	17312772	17312772	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:17312772G>A	ENST00000594824.1	+	27	4748	c.4601G>A	c.(4600-4602)aGc>aAc	p.S1534N	MYO9B_ENST00000397274.2_Missense_Mutation_p.S1534N|MYO9B_ENST00000595618.1_Missense_Mutation_p.S1534N			Q13459	MYO9B_HUMAN	myosin IXB	1534	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCCATTGAGAGCTTGTTTATC	0.577																																																	0													70.0	72.0	71.0					19																	17312772		1969	4163	6132	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4601G>A	19.37:g.17312772G>A	ENSP00000471367:p.Ser1534Asn		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.S1534N	ENST00000594824.1	37	c.4601		19	.	.	.	.	.	.	.	.	.	.	G	9.082	0.999657	0.19121	.	.	ENSG00000099331	ENST00000397274	D	0.84442	-1.85	4.82	3.7	0.42460	.	0.195564	0.35838	N	0.002945	T	0.81288	0.4791	L	0.40543	1.245	0.27470	N	0.952891	P;D;P;P	0.53619	0.936;0.961;0.936;0.934	B;P;B;P	0.52909	0.412;0.713;0.412;0.521	T	0.70644	-0.4815	10	0.17369	T	0.5	.	6.7886	0.23687	0.0898:0.0:0.7334:0.1768	.	1534;1534;1534;1540	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	N	1534	ENSP00000380444:S1534N	ENSP00000380444:S1534N	S	+	2	0	MYO9B	17173772	0.995000	0.38212	0.979000	0.43373	0.213000	0.24496	1.788000	0.38714	2.226000	0.72624	0.491000	0.48974	AGC	MYO9B	-	NULL	ENSG00000099331		0.577	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1		0.00	24	0	G			17312772	+1			no_errors	ENST00000594824	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.983	A
MYOM3	127294	genome.wustl.edu	37	1	24433677	24433677	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:24433677C>A	ENST00000374434.3	-	4	450	c.288G>T	c.(286-288)gaG>gaT	p.E96D	MYOM3_ENST00000330966.7_Missense_Mutation_p.E97D|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.E96D	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	96						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTGCCCTCGCTCCTCCAGCT	0.672																																																	0													29.0	32.0	31.0					1																	24433677		1996	4178	6174	SO:0001583	missense	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.288G>T	1.37:g.24433677C>A	ENSP00000363557:p.Glu96Asp		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E97D	ENST00000374434.3	37	c.291	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993144	0.54041	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.54675	0.57;0.57;0.56	4.98	4.05	0.47172	.	0.433164	0.23209	N	0.050687	T	0.33990	0.0882	N	0.14661	0.345	0.24800	N	0.992704	B;B	0.32467	0.372;0.231	B;B	0.32677	0.15;0.107	T	0.21042	-1.0257	10	0.33940	T	0.23	.	11.4549	0.50176	0.0:0.9075:0.0:0.0925	.	96;96	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	D	96;97;96	ENSP00000363557:E96D;ENSP00000332670:E97D;ENSP00000328415:E96D	ENSP00000328415:E96D	E	-	3	2	MYOM3	24306264	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.824000	0.39072	2.462000	0.83206	0.561000	0.74099	GAG	MYOM3	-	NULL	ENSG00000142661		0.672	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	-	0.00	54	0	C	NM_152372		24433677	-1	tier1	-	no_errors	ENST00000330966	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	A
MYOT	9499	genome.wustl.edu	37	5	137216556	137216557	+	Splice_Site	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:137216556_137216557insA	ENST00000239926.4	+	5	1057		c.e5+2		RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Splice_Site|MYOT_ENST00000509812.1_Splice_Site|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Splice_Site	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin						muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACAAGTAAGGTAAAAAATTTTA	0.297																																																	0																																										SO:0001630	splice_region_variant	0			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.683+2->A	5.37:g.137216562_137216562dupA			A0A4R6|B4DT79	Splice_Site	INS	-	e4+2	ENST00000239926.4	37	c.683+2_683+1	CCDS4194.1	5																																																																																			MYOT	-	-	ENSG00000120729		0.297	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOT	HGNC	protein_coding	OTTHUMT00000251219.2		0.00	33	0	-	NM_006790	Intron	137216557	+1	tier1		no_errors	ENST00000239926	ensembl	human	known	74_37	splice_site_ins	12.12	29	4	INS	1.000:1.000	A
MYOZ2	51778	genome.wustl.edu	37	4	120107300	120107300	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:120107300T>C	ENST00000307128.5	+	6	953	c.740T>C	c.(739-741)gTg>gCg	p.V247A		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						ATTCCTATAGTGATAACAACC	0.393																																																	0													89.0	89.0	89.0					4																	120107300		2203	4300	6503	SO:0001583	missense	0			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.740T>C	4.37:g.120107300T>C	ENSP00000306997:p.Val247Ala			Missense_Mutation	SNP	pfam_Calsarcin-bd	p.V247A	ENST00000307128.5	37	c.740	CCDS3711.1	4	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916850	0.52546	.	.	ENSG00000172399	ENST00000307128	T	0.62232	0.04	5.83	4.64	0.57946	.	0.252146	0.40302	N	0.001139	T	0.53465	0.1798	L	0.51422	1.61	0.37957	D	0.932858	B	0.31125	0.309	B	0.31946	0.138	T	0.53830	-0.8383	10	0.16420	T	0.52	-12.3312	12.1458	0.54022	0.0:0.068:0.0:0.932	.	247	Q9NPC6	MYOZ2_HUMAN	A	247	ENSP00000306997:V247A	ENSP00000306997:V247A	V	+	2	0	MYOZ2	120326748	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	3.656000	0.54467	2.219000	0.72066	0.528000	0.53228	GTG	MYOZ2	-	pfam_Calsarcin-bd	ENSG00000172399		0.393	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOZ2	HGNC	protein_coding	OTTHUMT00000256526.2	-	0.00	33	0	T			120107300	+1	tier1	-	no_errors	ENST00000307128	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.934	C
MYPOP	339344	genome.wustl.edu	37	19	46404933	46404933	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:46404933G>A	ENST00000322217.5	-	2	185	c.99C>T	c.(97-99)cgC>cgT	p.R33R		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	33	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						GGTAGTGGGCGCGCACCTCGC	0.687																																																	0													11.0	12.0	12.0					19																	46404933		2195	4284	6479	SO:0001819	synonymous_variant	0			BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.99C>T	19.37:g.46404933G>A				Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R33	ENST00000322217.5	37	c.99	CCDS33055.1	19																																																																																			MYPOP	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000176182		0.687	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYPOP	HGNC	protein_coding	OTTHUMT00000461684.1	-	0.00	107	0	G	NM_001012643		46404933	-1	tier1	-	no_errors	ENST00000322217	ensembl	human	known	74_37	silent	37.04	51	30	SNP	1.000	A
MYRF	745	genome.wustl.edu	37	11	61543873	61543873	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:61543873C>T	ENST00000278836.5	+	10	1564	c.1468C>T	c.(1468-1470)Cgt>Tgt	p.R490C	MYRF_ENST00000389602.4_5'Flank|MYRF_ENST00000265460.5_Missense_Mutation_p.R481C|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Missense_Mutation_p.R115C	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	490					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TAACAACATGCGTAAGAAGGG	0.647											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													24.0	24.0	24.0					11																	61543873		2202	4299	6501	SO:0001583	missense	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1468C>T	11.37:g.61543873C>T	ENSP00000278836:p.Arg490Cys	1054	O43582|Q9P1Q6	Missense_Mutation	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.R490C	ENST00000278836.5	37	c.1468	CCDS44622.1	11	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089351	0.76756	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.66280	-0.01;0.01;-0.2	4.57	3.64	0.41730	NDT80 DNA-binding domain (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.82102	0.4964	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	D	0.85264	0.1052	10	0.87932	D	0	-16.8577	11.6914	0.51519	0.4918:0.5082:0.0:0.0	.	481;490	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	C	490;481;115	ENSP00000278836:R490C;ENSP00000265460:R481C;ENSP00000333261:R115C	ENSP00000265460:R481C	R	+	1	0	C11orf9	61300449	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.812000	0.38952	1.034000	0.39945	0.455000	0.32223	CGT	MYRF	-	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	ENSG00000124920		0.647	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2	-	0.00	54	0	C	NM_013279		61543873	+1	tier1	-	no_errors	ENST00000278836	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	T
MYT1	4661	genome.wustl.edu	37	20	62871697	62871697	+	Missense_Mutation	SNP	G	G	A	rs372584255		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:62871697G>A	ENST00000328439.1	+	23	3626	c.3262G>A	c.(3262-3264)Gat>Aat	p.D1088N	MYT1_ENST00000536311.1_Missense_Mutation_p.D1115N	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACAGAATTTCGATGCCTATGT	0.567																																					GBM(59;481 1041 20555 21139 33705)												0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	148.0	122.0	131.0		3262	5.4	0.9	20		131	0,8600		0,0,4300	no	missense	MYT1	NM_004535.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1088/1122	62871697	1,13005	2203	4300	6503	SO:0001583	missense	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3262G>A	20.37:g.62871697G>A	ENSP00000327465:p.Asp1088Asn		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D1115N	ENST00000328439.1	37	c.3343	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175750	0.78564	2.27E-4	0.0	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.59364	0.27;0.29	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	M	0.70275	2.135	0.80722	D	1	D;D	0.60160	0.987;0.985	P;P	0.53450	0.726;0.595	T	0.74535	-0.3633	10	0.87932	D	0	-29.1787	19.5679	0.95403	0.0:0.0:1.0:0.0	.	1115;1088	F5H7M8;Q01538	.;MYT1_HUMAN	N	1088;1115	ENSP00000327465:D1088N;ENSP00000442412:D1115N	ENSP00000327465:D1088N	D	+	1	0	MYT1	62342141	1.000000	0.71417	0.938000	0.37757	0.913000	0.54294	9.725000	0.98778	2.702000	0.92279	0.655000	0.94253	GAT	MYT1	-	NULL	ENSG00000196132		0.567	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1		0.00	39	0	G	NM_004535		62871697	+1			no_errors	ENST00000536311	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	A
MYT1L	23040	genome.wustl.edu	37	2	1893213	1893213	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:1893213C>A	ENST00000399161.2	-	16	3067	c.2320G>T	c.(2320-2322)Gac>Tac	p.D774Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.D772Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	774					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATGCTGAGGTCCAGGGTCCCG	0.602																																																	0													60.0	62.0	61.0					2																	1893213		2049	4190	6239	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2320G>T	2.37:g.1893213C>A	ENSP00000382114:p.Asp774Tyr		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D774Y	ENST00000399161.2	37	c.2320		2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824482	0.90955	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.61742	0.08;0.08	4.78	4.78	0.61160	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.78534	0.4298	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.977	T	0.82645	-0.0355	10	0.87932	D	0	-40.6936	18.1739	0.89756	0.0:1.0:0.0:0.0	.	774;772	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Y	774;720;772	ENSP00000382114:D774Y;ENSP00000396103:D772Y	ENSP00000295067:D720Y	D	-	1	0	MYT1L	1872220	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.713000	0.84693	2.368000	0.80403	0.591000	0.81541	GAC	MYT1L	-	pfam_Myelin_TF	ENSG00000186487		0.602	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0.00	58	0	C	NM_015025		1893213	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	A
MZT2B	80097	genome.wustl.edu	37	2	130941391	130941391	+	Intron	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:130941391delC	ENST00000281871.6	+	2	674				SMPD4_ENST00000339679.7_5'Flank|MZT2B_ENST00000409255.1_Frame_Shift_Del_p.S117fs|SMPD4_ENST00000453750.1_5'Flank|SMPD4_ENST00000431183.2_5'Flank|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000409031.1_5'Flank|SMPD4_ENST00000443958.2_5'Flank|SMPD4_ENST00000351288.6_5'Flank|SMPD4_ENST00000426662.2_5'Flank|AC018804.1_ENST00000578074.1_RNA|MZT2B_ENST00000491178.1_Intron|SMPD4_ENST00000452225.2_5'Flank	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B							centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						GGAACAGTAGCCCCCCTGCAA	0.632																																																	0																																										SO:0001627	intron_variant	0			BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"""	613450	"""family with sequence similarity 128, member B"""	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.319+1043C>-	2.37:g.130941391delC			Q96CG4	Frame_Shift_Del	DEL	NULL	p.P119fs	ENST00000281871.6	37	c.351	CCDS2157.1	2																																																																																			MZT2B	-	NULL	ENSG00000152082		0.632	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MZT2B	HGNC	protein_coding	OTTHUMT00000254518.1		0.00	83	0	C	NM_025029		130941391	+1			no_errors	ENST00000409255	ensembl	human	novel	74_37	frame_shift_del	10.00	54	6	DEL	0.986	0
NAA15	80155	genome.wustl.edu	37	4	140291445	140291445	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:140291445delA	ENST00000296543.5	+	15	2157	c.1834delA	c.(1834-1836)aaafs	p.K613fs	NAA15_ENST00000398947.1_Frame_Shift_Del_p.K613fs	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	613	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						agaagaagagaaaaaaaatgc	0.358																																																	0													48.0	46.0	47.0					4																	140291445		1813	4073	5886	SO:0001589	frameshift_variant	0			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1834delA	4.37:g.140291445delA	ENSP00000296543:p.Lys613fs		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Frame_Shift_Del	DEL	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N614fs	ENST00000296543.5	37	c.1834	CCDS43270.1	4																																																																																			NAA15	-	pirsf_NatA_aux_su	ENSG00000164134		0.358	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2		0.00	48	0	A	NM_057175		140291445	+1	tier1		no_errors	ENST00000296543	ensembl	human	known	74_37	frame_shift_del	22.22	49	14	DEL	1.000	-
NACA	4666	genome.wustl.edu	37	12	57110462	57110462	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:57110462C>T	ENST00000454682.1	-	3	5133	c.4852G>A	c.(4852-4854)Gct>Act	p.A1618T	NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1618	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGAGTCACAGCTGGAGGAGTA	0.592			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													20.0	20.0	20.0					12																	57110462		1568	3578	5146	SO:0001583	missense	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4852G>A	12.37:g.57110462C>T	ENSP00000403817:p.Ala1618Thr			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.A1618T	ENST00000454682.1	37	c.4852		12	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996076	0.19043	.	.	ENSG00000196531	ENST00000454682	T	0.55052	0.54	3.37	-1.94	0.07571	.	.	.	.	.	T	0.31638	0.0803	.	.	.	0.09310	N	1	B	0.26081	0.141	B	0.18263	0.021	T	0.16070	-1.0415	7	.	.	.	.	8.2837	0.31915	0.0:0.4293:0.472:0.0987	.	1618	E9PAV3	.	T	1618	ENSP00000403817:A1618T	.	A	-	1	0	NACA	55396729	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.569000	0.02142	-0.430000	0.07318	0.305000	0.20034	GCT	NACA	-	NULL	ENSG00000196531		0.592	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		-	0.00	62	0	C	NM_005594		57110462	-1	tier1	-	no_errors	ENST00000454682	ensembl	human	known	74_37	missense	20.69	69	18	SNP	0.001	T
NAB2	4665	genome.wustl.edu	37	12	57485734	57485734	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:57485734C>T	ENST00000300131.3	+	2	1288	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	NAB2_ENST00000357680.4_Missense_Mutation_p.R304C|NAB2_ENST00000342556.6_Missense_Mutation_p.R304C	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	304	NCD2.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CATCTATGGCCGTTTCGACTC	0.557																																																	0													75.0	75.0	75.0					12																	57485734		2203	4300	6503	SO:0001583	missense	0			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.910C>T	12.37:g.57485734C>T	ENSP00000300131:p.Arg304Cys		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.R304C	ENST00000300131.3	37	c.910	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940410	0.73557	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	5.16	4.25	0.50352	NAB co-repressor, domain (1);	0.000000	0.64402	D	0.000001	T	0.74550	0.3731	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76705	-0.2861	9	0.87932	D	0	-11.0784	12.6514	0.56764	0.1669:0.8331:0.0:0.0	.	304	Q15742	NAB2_HUMAN	C	304	.	ENSP00000300131:R304C	R	+	1	0	NAB2	55772001	0.991000	0.36638	1.000000	0.80357	0.737000	0.42083	1.367000	0.34204	1.131000	0.42111	0.561000	0.74099	CGT	NAB2	-	pfam_NAB_co-repressor_dom	ENSG00000166886		0.557	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	-	0.00	48	0	C	NM_005967		57485734	+1	tier1	-	no_errors	ENST00000300131	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	T
NACC1	112939	genome.wustl.edu	37	19	13246434	13246434	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:13246434C>T	ENST00000292431.4	+	2	539	c.413C>T	c.(412-414)gCc>gTc	p.A138V		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	138					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCGGAGGAGGCCCCATCGTCG	0.677																																																	0													14.0	13.0	13.0					19																	13246434		2199	4296	6495	SO:0001583	missense	0			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.413C>T	19.37:g.13246434C>T	ENSP00000292431:p.Ala138Val			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.A138V	ENST00000292431.4	37	c.413	CCDS12294.1	19	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317361	0.40996	.	.	ENSG00000160877	ENST00000292431	T	0.55760	0.5	4.95	4.95	0.65309	.	0.345506	0.30028	N	0.010600	T	0.47060	0.1425	L	0.42245	1.32	0.43480	D	0.995702	B	0.20671	0.047	B	0.19148	0.024	T	0.42699	-0.9436	10	0.46703	T	0.11	.	15.7612	0.78082	0.0:1.0:0.0:0.0	.	138	Q96RE7	NACC1_HUMAN	V	138	ENSP00000292431:A138V	ENSP00000292431:A138V	A	+	2	0	NACC1	13107434	0.905000	0.30787	0.998000	0.56505	0.271000	0.26615	1.382000	0.34374	2.302000	0.77476	0.456000	0.33151	GCC	NACC1	-	NULL	ENSG00000160877		0.677	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NACC1	HGNC	protein_coding	OTTHUMT00000452879.1	-	0.00	63	0	C	NM_052876		13246434	+1	tier1	-	no_errors	ENST00000292431	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	T
NADK	65220	genome.wustl.edu	37	1	1687725	1687725	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1687725G>A	ENST00000341426.5	-	6	778	c.557C>T	c.(556-558)aCg>aTg	p.T186M	NADK_ENST00000342348.5_Missense_Mutation_p.T154M|NADK_ENST00000341991.3_Missense_Mutation_p.T186M|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Missense_Mutation_p.T331M|NADK_ENST00000344463.4_Missense_Mutation_p.T331M	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	186					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GTACAGCAGCGTCCCGTCTCC	0.507																																																	0													120.0	121.0	120.0					1																	1687725		2203	4300	6503	SO:0001583	missense	0			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.557C>T	1.37:g.1687725G>A	ENSP00000341679:p.Thr186Met		A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	p.T331M	ENST00000341426.5	37	c.992	CCDS30565.1	1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040481	0.55003	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.49	4.58	0.56647	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	D	0.87892	0.6292	H	0.98089	4.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91489	0.5210	10	0.87932	D	0	-47.1571	12.977	0.58542	0.079:0.0:0.9209:0.0	.	154;331;331;186	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	M	186;186;331;331;154;154	ENSP00000341679:T186M;ENSP00000344340:T186M;ENSP00000367890:T331M;ENSP00000340925:T331M;ENSP00000339727:T154M;ENSP00000383713:T154M	ENSP00000341679:T186M	T	-	2	0	NADK	1677585	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.059000	0.93902	1.332000	0.45431	0.462000	0.41574	ACG	NADK	-	pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	ENSG00000008130		0.507	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	HGNC	protein_coding	OTTHUMT00000002769.1	-	0.00	45	0	G	NM_023018		1687725	-1	tier1	-	no_errors	ENST00000344463	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	A
NALCN	259232	genome.wustl.edu	37	13	101833385	101833385	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:101833385C>T	ENST00000251127.6	-	15	1846				NALCN_ENST00000376196.3_3'UTR|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective						calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CATTTTGAAGCATTTAGACTT	0.498																																																	0																																										SO:0001627	intron_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1765-4660G>A	13.37:g.101833385C>T			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	RNA	SNP	-	NULL	ENST00000251127.6	37	NULL	CCDS9498.1	13																																																																																			NALCN	-	-	ENSG00000102452		0.498	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0.00	21	0	C	NM_052867		101833385	-1	tier1	-	no_errors	ENST00000470333	ensembl	human	known	74_37	rna	36.36	7	4	SNP	0.029	T
NAP1L3	4675	genome.wustl.edu	37	X	92927880	92927880	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:92927880G>T	ENST00000373079.3	-	1	687	c.424C>A	c.(424-426)Cct>Act	p.P142T	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.P135T|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	142					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCATACAGAGGCTTGTTGAGT	0.393																																																	0													50.0	43.0	46.0					X																	92927880		2203	4300	6503	SO:0001583	missense	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.424C>A	X.37:g.92927880G>T	ENSP00000362171:p.Pro142Thr		B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.P142T	ENST00000373079.3	37	c.424	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612420	0.46631	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.56444	0.46	3.89	3.02	0.34903	.	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.83852	2.665	0.33217	D	0.554142	D	0.76494	0.999	D	0.72982	0.979	T	0.78301	-0.2257	10	0.87932	D	0	-11.6388	9.0026	0.36092	0.1141:0.0:0.8859:0.0	.	142	Q99457	NP1L3_HUMAN	T	142;135	ENSP00000362171:P142T	ENSP00000362171:P142T	P	-	1	0	NAP1L3	92814536	1.000000	0.71417	0.924000	0.36721	0.742000	0.42306	4.043000	0.57354	1.026000	0.39733	0.529000	0.55759	CCT	NAP1L3	-	pfam_NAP_family	ENSG00000186310		0.393	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	-	0.00	61	0	G	NM_004538		92927880	-1	tier1	-	no_errors	ENST00000373079	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T
NAPEPLD	222236	genome.wustl.edu	37	7	102760123	102760123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:102760123delA	ENST00000417955.1	-	3	996	c.842delT	c.(841-843)ttcfs	p.F281fs	NAPEPLD_ENST00000465647.1_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000455523.2_Frame_Shift_Del_p.F354fs|NAPEPLD_ENST00000427257.1_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000341533.4_Frame_Shift_Del_p.F281fs			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	281				Missing (in Ref. 3; CAI56779). {ECO:0000305}.	phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.F281fs*14(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ATCTCCTGCGAAAAAAAATCG	0.463																																																	1	Deletion - Frameshift(1)	ovary(1)											83.0	79.0	80.0					7																	102760123		2203	4300	6503	SO:0001589	frameshift_variant	0			BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.842delT	7.37:g.102760123delA	ENSP00000407112:p.Phe281fs		Q5CZ87|Q769K1	Frame_Shift_Del	DEL	NULL	p.F354fs	ENST00000417955.1	37	c.1061	CCDS5729.1	7																																																																																			NAPEPLD	-	NULL	ENSG00000161048		0.463	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NAPEPLD	HGNC	protein_coding	OTTHUMT00000347904.1		0.00	54	0	A	NM_198990		102760123	-1	tier1		no_errors	ENST00000455523	ensembl	human	known	74_37	frame_shift_del	11.76	60	8	DEL	1.000	-
NARFL	64428	genome.wustl.edu	37	16	780264	780264	+	3'UTR	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:780264G>A	ENST00000251588.2	-	0	1600				NARFL_ENST00000540986.1_3'UTR|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000568545.1_3'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like						hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GTGACGAGGCGGCTGCGGGTC	0.657																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.*153C>T	16.37:g.780264G>A			A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	RNA	SNP	-	NULL	ENST00000251588.2	37	NULL	CCDS10425.1	16																																																																																			NARFL	-	-	ENSG00000103245		0.657	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	-	0.00	42	0	G	NM_022493		780264	-1	tier1	-	no_errors	ENST00000562862	ensembl	human	known	74_37	rna	30.77	27	12	SNP	0.000	A
NAT9	26151	genome.wustl.edu	37	17	72768238	72768238	+	Intron	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:72768238C>A	ENST00000357814.3	-	6	468				NAT9_ENST00000578822.1_Intron|NAT9_ENST00000582524.1_Intron|NAT9_ENST00000582870.1_Intron|NAT9_ENST00000583476.1_Intron|NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000580632.1_Missense_Mutation_p.G117V|NAT9_ENST00000581136.1_Intron|NAT9_ENST00000580301.1_Intron|NAT9_ENST00000583757.1_Intron	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)							protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GGCGCCTGCCCCCACCCTCCT	0.577																																																	0													59.0	60.0	59.0					17																	72768238		2203	4300	6503	SO:0001627	intron_variant	0			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.395-45G>T	17.37:g.72768238C>A			B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.G117V	ENST00000357814.3	37	c.350	CCDS11706.1	17																																																																																			NAT9	-	superfamily_Acyl_CoA_acyltransferase	ENSG00000109065		0.577	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	-	0.00	55	0	C	NM_015654		72768238	-1	tier1	-	no_errors	ENST00000580632	ensembl	human	novel	74_37	missense	32.61	31	15	SNP	0.000	A
NAV2	89797	genome.wustl.edu	37	11	20141368	20141369	+	IGR	DEL	AA	AA	-	rs113739584		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:20141368_20141369delAA	ENST00000396087.3	+	0	7882				NAV2_ENST00000527559.2_3'UTR|NAV2-AS1_ENST00000526642.1_RNA|NAV2_ENST00000396085.1_3'UTR|NAV2_ENST00000349880.4_3'UTR|NAV2_ENST00000540292.1_3'UTR|NAV2_ENST00000311043.8_3'UTR|NAV2_ENST00000360655.4_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2						glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGGAAAAAGAAAAAAAAAAAG	0.406																																																	0																																										SO:0001628	intergenic_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837		11.37:g.20141376_20141377delAA			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	RNA	DEL	-	NULL	ENST00000396087.3	37	NULL	CCDS58126.1	11																																																																																			NAV2-AS1	-	-	ENSG00000254894		0.406	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2-AS1	HGNC	protein_coding	OTTHUMT00000324112.1		0.00	36	0	AA	NM_145117		20141369	-1	tier1		no_errors	ENST00000526642	ensembl	human	known	74_37	rna	13.79	25	4	DEL	0.000:0.000	-
NAV3	89795	genome.wustl.edu	37	12	78513542	78513542	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:78513542C>T	ENST00000397909.2	+	15	3739	c.3566C>T	c.(3565-3567)tCg>tTg	p.S1189L	NAV3_ENST00000228327.6_Missense_Mutation_p.S1189L|NAV3_ENST00000536525.2_Missense_Mutation_p.S1189L|NAV3_ENST00000266692.7_Missense_Mutation_p.S1189L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1189	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAGGGCGCTCGAGTCCTGTC	0.498										HNSCC(70;0.22)																																							0													77.0	82.0	80.0					12																	78513542		1938	4126	6064	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3566C>T	12.37:g.78513542C>T	ENSP00000381007:p.Ser1189Leu		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1189L	ENST00000397909.2	37	c.3566		12	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016592	0.93404	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.55	5.55	0.83447	.	0.000000	0.37095	U	0.002243	T	0.56156	0.1966	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.963;0.997;0.996;0.996	T	0.57312	-0.7833	10	0.87932	D	0	-8.7833	19.5083	0.95130	0.0:1.0:0.0:0.0	.	1189;1189;1189;1189	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1189	ENSP00000446132:S1189L;ENSP00000381007:S1189L;ENSP00000228327:S1189L;ENSP00000266692:S1189L	ENSP00000228327:S1189L	S	+	2	0	NAV3	77037673	1.000000	0.71417	0.963000	0.40424	0.973000	0.67179	7.594000	0.82698	2.600000	0.87896	0.655000	0.94253	TCG	NAV3	-	NULL	ENSG00000067798		0.498	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0.00	55	0	C	NM_001024383		78513542	+1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	26.42	39	14	SNP	1.000	T
NBAS	51594	genome.wustl.edu	37	2	15614272	15614272	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:15614272C>T	ENST00000281513.5	-	15	1543	c.1518G>A	c.(1516-1518)cgG>cgA	p.R506R	NBAS_ENST00000441750.1_Silent_p.R506R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	506					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTGGGCGTTTCCGTGGTGGTG	0.448																																																	0													149.0	143.0	145.0					2																	15614272		2203	4300	6503	SO:0001819	synonymous_variant	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1518G>A	2.37:g.15614272C>T			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.R506	ENST00000281513.5	37	c.1518	CCDS1685.1	2																																																																																			NBAS	-	NULL	ENSG00000151779		0.448	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	-	0.00	82	0	C	NM_015909		15614272	-1	tier1	-	no_errors	ENST00000281513	ensembl	human	known	74_37	silent	13.58	70	11	SNP	0.997	T
NBAS	51594	genome.wustl.edu	37	2	15694247	15694248	+	Frame_Shift_Ins	INS	-	-	A	rs375920205		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:15694247_15694248insA	ENST00000281513.5	-	4	249_250	c.224_225insT	c.(223-225)ttgfs	p.L75fs	NBAS_ENST00000441750.1_Frame_Shift_Ins_p.L75fs	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	75					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CATCAGGGAGCAAAAAAGGTGC	0.371																																																	0																																										SO:0001589	frameshift_variant	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.225dupT	2.37:g.15694253_15694253dupA	ENSP00000281513:p.Leu75fs		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Frame_Shift_Ins	INS	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.L75fs	ENST00000281513.5	37	c.225_224	CCDS1685.1	2																																																																																			NBAS	-	NULL	ENSG00000151779		0.371	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1		0.00	136	0	-	NM_015909		15694248	-1	tier1		no_errors	ENST00000281513	ensembl	human	known	74_37	frame_shift_ins	29.30	111	46	INS	1.000:1.000	A
NBEA	26960	genome.wustl.edu	37	13	35644864	35644864	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:35644864A>C	ENST00000400445.3	+	10	1980	c.1446A>C	c.(1444-1446)aaA>aaC	p.K482N	NBEA_ENST00000379939.2_Missense_Mutation_p.K482N|NBEA_ENST00000540320.1_Missense_Mutation_p.K482N|NBEA_ENST00000310336.4_Missense_Mutation_p.K482N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	482					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGGATGTGAAAGCGATAGTAA	0.308																																																	0													73.0	76.0	75.0					13																	35644864		2203	4300	6503	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1446A>C	13.37:g.35644864A>C	ENSP00000383295:p.Lys482Asn		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.K482N	ENST00000400445.3	37	c.1446	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	7.035	0.561333	0.13498	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.23	2.79	0.32731	.	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	L	0.31578	0.945	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.61840	-0.6980	10	0.45353	T	0.12	.	9.7302	0.40357	0.8587:0.0:0.1413:0.0	.	482	Q5T321	.	N	482	ENSP00000440951:K482N;ENSP00000383295:K482N;ENSP00000369271:K482N;ENSP00000308534:K482N	ENSP00000308534:K482N	K	+	3	2	NBEA	34542864	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	1.935000	0.40173	0.409000	0.25649	-0.991000	0.02546	AAA	NBEA	-	NULL	ENSG00000172915		0.308	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0.00	170	0	A	NM_015678		35644864	+1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	27.98	120	47	SNP	1.000	C
NBEA	26960	genome.wustl.edu	37	13	36158057	36158057	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:36158057A>G	ENST00000400445.3	+	46	7592	c.7058A>G	c.(7057-7059)aAg>aGg	p.K2353R	NBEA_ENST00000379939.2_Missense_Mutation_p.K2350R|NBEA_ENST00000310336.4_Missense_Mutation_p.K2353R|NBEA_ENST00000537702.1_Missense_Mutation_p.K146R|NBEA_ENST00000540320.1_Missense_Mutation_p.K2353R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2353	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGAACCCCAAGAGAGCTGTG	0.323																																																	0													119.0	111.0	114.0					13																	36158057		1817	4082	5899	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7058A>G	13.37:g.36158057A>G	ENSP00000383295:p.Lys2353Arg		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.K2353R	ENST00000400445.3	37	c.7058	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552575	0.86127	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.64	5.64	0.86602	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	L	0.55743	1.74	0.80722	D	1	B;B	0.19073	0.033;0.033	B;B	0.29716	0.106;0.106	T	0.58967	-0.7542	10	0.41790	T	0.15	.	15.8686	0.79091	1.0:0.0:0.0:0.0	.	2353;2350	Q8NFP9;Q5T321	NBEA_HUMAN;.	R	2353;2353;2350;2353;980;146;146	ENSP00000440951:K2353R;ENSP00000383295:K2353R;ENSP00000369271:K2350R;ENSP00000308534:K2353R;ENSP00000440233:K146R	ENSP00000308534:K2353R	K	+	2	0	NBEA	35056057	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.930000	0.92872	2.152000	0.67230	0.528000	0.53228	AAG	NBEA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000172915		0.323	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0.00	36	0	A	NM_015678		36158057	+1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	G
NBEAL1	65065	genome.wustl.edu	37	2	204058623	204058623	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:204058623delT	ENST00000449802.1	+	46	7273	c.6940delT	c.(6940-6942)tttfs	p.F2315fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2315										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTCAAGTCATTTTTTATAGA	0.338																																																	0													125.0	124.0	125.0					2																	204058623		1837	4078	5915	SO:0001589	frameshift_variant	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6940delT	2.37:g.204058623delT	ENSP00000399903:p.Phe2315fs		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Del	DEL	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F2315fs	ENST00000449802.1	37	c.6940	CCDS46495.1	2																																																																																			NBEAL1	-	NULL	ENSG00000144426		0.338	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4		0.00	39	0	T			204058623	+1	tier1		no_errors	ENST00000449802	ensembl	human	known	74_37	frame_shift_del	21.15	41	11	DEL	1.000	-
NBEAL2	23218	genome.wustl.edu	37	3	47033032	47033032	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:47033032T>C	ENST00000450053.3	+	8	958	c.779T>C	c.(778-780)gTc>gCc	p.V260A	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.V260A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	260					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCAGTCCATGTCTTGCATGCC	0.642																																																	0													59.0	63.0	61.0					3																	47033032		2118	4250	6368	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.779T>C	3.37:g.47033032T>C	ENSP00000415034:p.Val260Ala		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V260A	ENST00000450053.3	37	c.779	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865165	0.32977	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.58652	0.32;0.33	5.27	5.27	0.74061	.	.	.	.	.	T	0.41673	0.1169	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.004	T	0.34204	-0.9838	9	0.54805	T	0.06	.	9.3898	0.38365	0.0:0.0852:0.0:0.9148	.	253;260	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	A	260;260;253	ENSP00000292309:V260A;ENSP00000415034:V260A	ENSP00000292309:V260A	V	+	2	0	NBEAL2	47008036	0.065000	0.20965	0.983000	0.44433	0.353000	0.29299	2.108000	0.41854	1.986000	0.57962	0.460000	0.39030	GTC	NBEAL2	-	NULL	ENSG00000160796		0.642	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3		0.00	20	0	T	XM_291064		47033032	+1			no_errors	ENST00000450053	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	C
NBEAL2	23218	genome.wustl.edu	37	3	47040003	47040003	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:47040003C>T	ENST00000450053.3	+	22	3348	c.3169C>T	c.(3169-3171)Cgg>Tgg	p.R1057W	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1057W	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1057					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACAGAAGCTGCGGAAGAAGTA	0.607											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													57.0	60.0	59.0					3																	47040003		2088	4219	6307	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3169C>T	3.37:g.47040003C>T	ENSP00000415034:p.Arg1057Trp	943	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1057W	ENST00000450053.3	37	c.3169	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703133	0.68501	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.56611	0.45;0.45	5.31	4.39	0.52855	Armadillo-like helical (1);	0.255160	0.36815	N	0.002396	T	0.65312	0.2679	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.67397	-0.5681	10	0.87932	D	0	.	7.1731	0.25728	0.1646:0.7434:0.0:0.092	.	1057	Q6ZNJ1	NBEL2_HUMAN	W	1057	ENSP00000292309:R1057W;ENSP00000415034:R1057W	ENSP00000292309:R1057W	R	+	1	2	NBEAL2	47015007	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.735000	0.55044	1.383000	0.46405	-0.367000	0.07326	CGG	NBEAL2	-	NULL	ENSG00000160796		0.607	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	-	0.00	36	0	C	XM_291064		47040003	+1	tier1	-	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	T
NBPF10	100132406	genome.wustl.edu	37	1	145299885	145299886	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:145299885_145299886delAA	ENST00000369338.1	+	2	311_312	c.121_122delAA	c.(121-123)aaafs	p.K41fs	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Frame_Shift_Del_p.K312fs|NBPF10_ENST00000369339.3_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	312						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTCAAAGAGAAATGTTTTCTA	0.431																																																	0																																										SO:0001589	frameshift_variant	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.121_122delAA	1.37:g.145299885_145299886delAA	ENSP00000358344:p.Lys41fs		Q5RHC0|Q9NWN6	Frame_Shift_Del	DEL	pfam_NBPF_dom	p.K312fs	ENST00000369338.1	37	c.934_935		1																																																																																			NBPF10	-	NULL	ENSG00000163386		0.431	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038552.1		0.00	485	0	AA	NM_001039703		145299886	+1	tier1		no_errors	ENST00000342960	ensembl	human	known	74_37	frame_shift_del	9.84	385	42	DEL	0.122:0.118	-
NBR1	4077	genome.wustl.edu	37	17	41362035	41362035	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:41362035A>G	ENST00000422280.1	+	21	3302	c.2843A>G	c.(2842-2844)cAg>cGg	p.Q948R	TMEM106A_ENST00000541594.1_5'Flank|TMEM106A_ENST00000536052.1_5'Flank|NBR1_ENST00000389312.4_Missense_Mutation_p.Q948R|NBR1_ENST00000341165.6_Missense_Mutation_p.Q948R|TMEM106A_ENST00000331615.3_5'Flank|NBR1_ENST00000590996.1_Missense_Mutation_p.Q948R|TMEM106A_ENST00000588659.1_5'Flank	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	948	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AATATCCTGCAGGTTGTGACA	0.463																																																	0													73.0	64.0	67.0					17																	41362035		1568	3582	5150	SO:0001583	missense	0			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2843A>G	17.37:g.41362035A>G	ENSP00000411250:p.Gln948Arg		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.Q948R	ENST00000422280.1	37	c.2843	CCDS45694.1	17	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261552	0.59431	.	.	ENSG00000188554	ENST00000422280;ENST00000537493;ENST00000341165;ENST00000389312	T;T;T	0.40756	1.02;1.02;1.02	5.86	3.53	0.40419	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	.	.	.	.	T	0.35537	0.0935	L	0.60455	1.87	0.35273	D	0.780591	B	0.32717	0.381	B	0.26969	0.075	T	0.49624	-0.8920	9	0.66056	D	0.02	-4.3817	8.4491	0.32860	0.8004:0.1316:0.0681:0.0	.	948	Q14596	NBR1_HUMAN	R	948;199;948;948	ENSP00000411250:Q948R;ENSP00000343479:Q948R;ENSP00000373963:Q948R	ENSP00000343479:Q948R	Q	+	2	0	NBR1	38717561	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.460000	0.66691	1.040000	0.40099	0.533000	0.62120	CAG	NBR1	-	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000188554		0.463	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBR1	HGNC	protein_coding	OTTHUMT00000453461.1	-	0.00	79	0	A	NM_005899		41362035	+1	tier1	-	no_errors	ENST00000341165	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	G
NCAM1	4684	genome.wustl.edu	37	11	113143814	113143814	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:113143814G>A	ENST00000397957.4	+	19	2667				NCAM1-AS1_ENST00000526229.1_RNA|NCAM1_ENST00000316851.7_Intron|NCAM1-AS1_ENST00000533638.1_RNA			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CGCCGGCCACGGCCACGCCTG	0.657																																																	0																																										SO:0001627	intron_variant	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000397957.4:c.2667+1216G>A	11.37:g.113143814G>A			A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	RNA	SNP	-	NULL	ENST00000397957.4	37	NULL		11																																																																																			NCAM1	-	-	ENSG00000149294		0.657	NCAM1-001	KNOWN	basic	processed_transcript	NCAM1	HGNC	protein_coding	OTTHUMT00000393677.2	-	0.00	96	0	G	NM_000615		113143814	+1	tier1	-	no_errors	ENST00000528158	ensembl	human	putative	74_37	rna	18.42	62	14	SNP	0.733	A
NCAM1	4684	genome.wustl.edu	37	11	113146392	113146392	+	3'UTR	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:113146392G>A	ENST00000397957.4	+	0	3071				NCAM1-AS1_ENST00000526229.1_RNA|NCAM1_ENST00000316851.7_3'UTR|RP11-839D17.3_ENST00000526487.1_RNA|RP11-839D17.3_ENST00000529416.1_RNA|NCAM1-AS1_ENST00000533638.1_RNA			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGACACTCCGTTCCCTGAAA	0.403																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000397957.4:c.*3068G>A	11.37:g.113146392G>A			A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	RNA	SNP	-	NULL	ENST00000397957.4	37	NULL		11																																																																																			NCAM1	-	-	ENSG00000149294		0.403	NCAM1-001	KNOWN	basic	processed_transcript	NCAM1	HGNC	protein_coding	OTTHUMT00000393677.2	-	0.00	20	0	G	NM_000615		113146392	+1	tier1	-	no_errors	ENST00000397957	ensembl	human	known	74_37	rna	21.74	18	5	SNP	0.972	A
NCAM1	4684	genome.wustl.edu	37	11	113147558	113147558	+	3'UTR	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:113147558delG	ENST00000397957.4	+	0	4237				NCAM1-AS1_ENST00000526229.1_RNA|NCAM1_ENST00000316851.7_3'UTR|RP11-839D17.3_ENST00000526487.1_RNA|RP11-839D17.3_ENST00000529416.1_RNA|RP11-839D17.3_ENST00000533504.1_RNA			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGGGATGGGAGGGGGGGGAGA	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000397957.4:c.*4234G>-	11.37:g.113147558delG			A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	RNA	DEL	-	NULL	ENST00000397957.4	37	NULL		11																																																																																			NCAM1	-	-	ENSG00000149294		0.433	NCAM1-001	KNOWN	basic	processed_transcript	NCAM1	HGNC	protein_coding	OTTHUMT00000393677.2		0.00	63	0	G	NM_000615		113147558	+1	tier1		no_errors	ENST00000397957	ensembl	human	known	74_37	rna	23.40	36	11	DEL	0.998	-
NCAPD2	9918	genome.wustl.edu	37	12	6623452	6623452	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:6623452C>T	ENST00000315579.5	+	7	1408	c.609C>T	c.(607-609)taC>taT	p.Y203Y	NCAPD2_ENST00000545962.1_Silent_p.Y158Y	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	203	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCTGTTGCTACCGCCTTCTGG	0.473																																																	0													99.0	108.0	105.0					12																	6623452		2203	4300	6503	SO:0001819	synonymous_variant	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.609C>T	12.37:g.6623452C>T			D3DUR4|Q8N6U3	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.Y203	ENST00000315579.5	37	c.609	CCDS8548.1	12																																																																																			NCAPD2	-	pirsf_Condensin_cplx_su1	ENSG00000010292		0.473	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	-	0.00	69	0	C	NM_014865		6623452	+1	tier1	-	no_errors	ENST00000315579	ensembl	human	known	74_37	silent	11.86	52	7	SNP	1.000	T
NCDN	23154	genome.wustl.edu	37	1	36026864	36026864	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:36026864C>T	ENST00000373243.2	+	3	1495	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	NCDN_ENST00000373253.3_Missense_Mutation_p.A354V|NCDN_ENST00000356090.4_Missense_Mutation_p.A371V	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	371					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGAAGGAGGCCATAGGGGCT	0.602																																																	0													43.0	36.0	38.0					1																	36026864		2203	4300	6503	SO:0001583	missense	0			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1112C>T	1.37:g.36026864C>T	ENSP00000362340:p.Ala371Val		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	NULL	p.A371V	ENST00000373243.2	37	c.1112	CCDS392.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287297	0.80803	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	T;T;T	0.73681	-0.77;-0.77;-0.77	4.77	4.77	0.60923	.	0.164612	0.53938	D	0.000056	D	0.83663	0.5303	M	0.62723	1.935	0.80722	D	1	D	0.56287	0.975	D	0.67231	0.95	D	0.83966	0.0324	10	0.48119	T	0.1	.	16.9663	0.86286	0.0:1.0:0.0:0.0	.	371	Q9UBB6	NCDN_HUMAN	V	354;371;371	ENSP00000362350:A354V;ENSP00000348394:A371V;ENSP00000362340:A371V	ENSP00000348394:A371V	A	+	2	0	NCDN	35799451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.233000	0.65337	2.492000	0.84095	0.561000	0.74099	GCC	NCDN	-	NULL	ENSG00000020129		0.602	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1	-	0.00	39	0	C	NM_014284		36026864	+1	tier1	-	no_errors	ENST00000356090	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	T
NCKAP1L	3071	genome.wustl.edu	37	12	54910702	54910702	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:54910702C>T	ENST00000293373.6	+	11	1100	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R291W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	341					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTGTCAACGGCGGCAATTTCT	0.517																																																	0													117.0	112.0	114.0					12																	54910702		2203	4300	6503	SO:0001583	missense	0			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1021C>T	12.37:g.54910702C>T	ENSP00000293373:p.Arg341Trp		B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.R341W	ENST00000293373.6	37	c.1021	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866258	0.71949	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57752	0.38;0.38	5.19	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	M	0.81497	2.545	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.77091	-0.2716	10	0.87932	D	0	-13.8813	13.3543	0.60619	0.1585:0.8415:0.0:0.0	.	341	P55160	NCKPL_HUMAN	W	341;291	ENSP00000293373:R341W;ENSP00000445596:R291W	ENSP00000293373:R341W	R	+	1	2	NCKAP1L	53196969	0.997000	0.39634	0.988000	0.46212	0.957000	0.61999	1.363000	0.34159	1.289000	0.44618	0.591000	0.81541	CGG	NCKAP1L	-	pfam_Nck-associated_protein-1	ENSG00000123338		0.517	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	-	0.00	92	0	C	NM_005337		54910702	+1	tier1	-	no_errors	ENST00000293373	ensembl	human	known	74_37	missense	36.08	62	35	SNP	0.998	T
NCOR2	9612	genome.wustl.edu	37	12	124821385	124821385	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:124821385G>A	ENST00000405201.1	-	38	6029	c.6029C>T	c.(6028-6030)gCg>gTg	p.A2010V	NCOR2_ENST00000356219.3_Missense_Mutation_p.A2017V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A2001V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A2000V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2000V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1571V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2021					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCAGGTGGCGCCGGCGGGTC	0.662																																																	0													31.0	38.0	36.0					12																	124821385		1978	4143	6121	SO:0001583	missense	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6029C>T	12.37:g.124821385G>A	ENSP00000384018:p.Ala2010Val		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A2017V	ENST00000405201.1	37	c.6050	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	g	9.610	1.131020	0.21041	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.18657	2.2;2.47;2.2;2.47;2.21;2.46	4.25	4.25	0.50352	.	0.227351	0.36628	N	0.002481	T	0.09113	0.0225	N	0.14661	0.345	0.09310	N	0.999991	P;P;P	0.43314	0.703;0.803;0.703	B;B;B	0.28849	0.044;0.095;0.044	T	0.23655	-1.0182	10	0.34782	T	0.22	-34.8786	9.9637	0.41712	0.0998:0.0:0.9002:0.0	.	2001;2010;2021	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	V	2010;2000;2017;2001;2009;1571;102;2000	ENSP00000384018:A2010V;ENSP00000384202:A2000V;ENSP00000348551:A2017V;ENSP00000380513:A2001V;ENSP00000385618:A1571V;ENSP00000400281:A2000V	ENSP00000348551:A2017V	A	-	2	0	NCOR2	123387338	1.000000	0.71417	0.784000	0.31847	0.411000	0.31082	4.900000	0.63252	2.185000	0.69588	0.556000	0.70494	GCG	NCOR2	-	NULL	ENSG00000196498		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0.00	35	0	G	NM_006312		124821385	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.365	A
NCOR2	9612	genome.wustl.edu	37	12	124829303	124829303	+	Silent	SNP	C	C	T	rs551690182		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:124829303C>T	ENST00000405201.1	-	32	4554	c.4554G>A	c.(4552-4554)tcG>tcA	p.S1518S	NCOR2_ENST00000356219.3_Silent_p.S1525S|NCOR2_ENST00000397355.1_Silent_p.S1509S|NCOR2_ENST00000404621.1_Silent_p.S1508S|NCOR2_ENST00000429285.2_Silent_p.S1508S|NCOR2_ENST00000404121.2_Silent_p.S1079S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1526					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGGAGCCCCCCGAGCTGCTGG	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		13582	0.0		0.0	False		,,,				2504	0.001																0													4.0	7.0	6.0					12																	124829303		1722	3682	5404	SO:0001819	synonymous_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4554G>A	12.37:g.124829303C>T			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S1525	ENST00000405201.1	37	c.4575	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.706	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0.00	32	0	C	NM_006312		124829303	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	silent	37.50	20	12	SNP	0.006	T
NDFIP1	80762	genome.wustl.edu	37	5	141511526	141511526	+	Intron	DEL	A	A	-	rs556414620		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:141511526delA	ENST00000253814.4	+	2	621				NDFIP1_ENST00000509436.1_3'UTR	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1						cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACAGTTTAAAAAAAAAAA	0.393																																																	0																																										SO:0001627	intron_variant	0			BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.151+66A>-	5.37:g.141511526delA			B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	RNA	DEL	-	NULL	ENST00000253814.4	37	NULL	CCDS4273.1	5																																																																																			NDFIP1	-	-	ENSG00000131507		0.393	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDFIP1	HGNC	protein_coding	OTTHUMT00000251859.2		0.00	18	0	A	NM_030571		141511526	+1	tier1		no_errors	ENST00000509436	ensembl	human	known	74_37	rna	21.43	11	3	DEL	0.000	-
NDNF	79625	genome.wustl.edu	37	4	121958469	121958469	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:121958469G>A	ENST00000379692.4	-	4	1183	c.657C>T	c.(655-657)caC>caT	p.H219H	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	219					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTTTGAAATTGTGCTCTTTGT	0.498																																																	0													161.0	165.0	164.0					4																	121958469		2200	4300	6500	SO:0001819	synonymous_variant	0			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.657C>T	4.37:g.121958469G>A			A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.H219	ENST00000379692.4	37	c.657	CCDS3717.2	4																																																																																			NDNF	-	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000173376		0.498	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	-	0.00	62	0	G	NM_024574		121958469	-1	tier1	-	no_errors	ENST00000379692	ensembl	human	known	74_37	silent	9.80	46	5	SNP	1.000	A
NDOR1	27158	genome.wustl.edu	37	9	140110190	140110190	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:140110190delG	ENST00000344894.5	+	11	1451	c.1368delG	c.(1366-1368)gtgfs	p.V456fs	NDOR1_ENST00000458322.2_Frame_Shift_Del_p.V449fs|NDOR1_ENST00000427047.2_Frame_Shift_Del_p.V422fs|NDOR1_ENST00000371521.4_Frame_Shift_Del_p.V456fs	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGATCATGGTGGGGCCTGGCA	0.667																																																	0													39.0	44.0	42.0					9																	140110190		2202	4300	6502	SO:0001589	frameshift_variant	0			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1368delG	9.37:g.140110190delG	ENSP00000343344:p.Val456fs			Frame_Shift_Del	DEL	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.P458fs	ENST00000344894.5	37	c.1368	CCDS7036.1	9																																																																																			NDOR1	-	pfam_OxRdtase_FAD/NAD-bd,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	ENSG00000188566		0.667	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDOR1	HGNC	protein_coding	OTTHUMT00000254704.1		0.00	88	0	G	NM_014434		140110190	+1	tier1		no_errors	ENST00000371521	ensembl	human	known	74_37	frame_shift_del	20.00	64	16	DEL	1.000	-
NDUFA10	4705	genome.wustl.edu	37	2	240923039	240923039	+	Intron	SNP	G	G	A	rs373240216	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:240923039G>A	ENST00000252711.2	-	9	1100				NDUFA10_ENST00000404554.1_Intron|NDUFA10_ENST00000307300.4_Silent_p.T395T	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		aggagcccacggtcagggcca	0.562													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		15197	0.0		0.0	False		,,,				2504	0.0																0								G		0,1752		0,0,876	15.0	14.0	14.0			0.3	0.0	2		14	4,3978		0,4,1987	no	intron	NDUFA10	NM_004544.3		0,4,2863	AA,AG,GG		0.1005,0.0,0.0698			240923039	4,5730	876	1991	2867	SO:0001627	intron_variant	0			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.999+6451C>T	2.37:g.240923039G>A			Q8WXC9	Silent	SNP	superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su	p.T395	ENST00000252711.2	37	c.1185	CCDS2531.1	2																																																																																			NDUFA10	-	NULL	ENSG00000130414		0.562	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA10	HGNC	protein_coding	OTTHUMT00000257180.2	-	0.00	47	0	G	NM_004544		240923039	-1	tier1	-	no_errors	ENST00000307300	ensembl	human	novel	74_37	silent	26.67	22	8	SNP	0.001	A
NDUFA7	4701	genome.wustl.edu	37	19	8386227	8386227	+	Missense_Mutation	SNP	G	G	A	rs553849517		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:8386227G>A	ENST00000301457.2	-	1	53	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	RPS28_ENST00000600659.2_5'Flank|NDUFA7_ENST00000598884.1_Missense_Mutation_p.R6C	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	6					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						TGGATGAGACGGGTGGCGGAC	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		11554	0.0		0.001	False		,,,				2504	0.0																0													6.0	10.0	9.0					19																	8386227		1893	4051	5944	SO:0001583	missense	0			AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.16C>T	19.37:g.8386227G>A	ENSP00000301457:p.Arg6Cys			Missense_Mutation	SNP	pfam_NADH-UbQ_OxRdtase_B14.5a_su	p.R6C	ENST00000301457.2	37	c.16	CCDS42492.1	19	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785850	0.70337	.	.	ENSG00000167774	ENST00000301457	T	0.47528	0.84	5.54	0.293	0.15742	.	0.140274	0.48286	D	0.000194	T	0.50582	0.1624	L	0.40543	1.245	0.09310	N	0.999998	D	0.76494	0.999	P	0.60609	0.877	T	0.44483	-0.9325	10	0.66056	D	0.02	-11.93	10.0863	0.42421	0.0:0.1155:0.4214:0.4631	.	6	O95182	NDUA7_HUMAN	C	6	ENSP00000301457:R6C	ENSP00000301457:R6C	R	-	1	0	NDUFA7	8292227	0.059000	0.20769	0.001000	0.08648	0.640000	0.38277	0.676000	0.25247	0.334000	0.23590	0.655000	0.94253	CGT	NDUFA7	-	pfam_NADH-UbQ_OxRdtase_B14.5a_su	ENSG00000267855		0.716	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA7	HGNC	protein_coding	OTTHUMT00000461373.1	-	0.00	37	0	G	NM_005001		8386227	-1	tier1	-	no_errors	ENST00000301457	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.008	A
NEB	4703	genome.wustl.edu	37	2	152544898	152544898	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:152544898C>A	ENST00000172853.10	-	25	2470	c.2323G>T	c.(2323-2325)Gca>Tca	p.A775S	NEB_ENST00000409198.1_Missense_Mutation_p.A775S|NEB_ENST00000603639.1_Missense_Mutation_p.A775S|NEB_ENST00000427231.2_Missense_Mutation_p.A775S|NEB_ENST00000604864.1_Missense_Mutation_p.A775S|NEB_ENST00000397345.3_Missense_Mutation_p.A775S			P20929	NEBU_HUMAN	nebulin	775					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCATGTTTTGCTTTGTAATTC	0.383																																																	0													142.0	133.0	136.0					2																	152544898		1897	4112	6009	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2323G>T	2.37:g.152544898C>A	ENSP00000172853:p.Ala775Ser		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.A775S	ENST00000172853.10	37	c.2323		2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553816	0.86231	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.06933	3.24;3.26;3.25;3.25	5.71	5.71	0.89125	.	0.163209	0.38005	N	0.001853	T	0.07908	0.0198	L	0.31207	0.915	0.80722	D	1	B	0.27971	0.196	B	0.27796	0.083	T	0.37911	-0.9685	10	0.16420	T	0.52	.	16.7855	0.85573	0.0:1.0:0.0:0.0	.	775	P20929	NEBU_HUMAN	S	775	ENSP00000386259:A775S;ENSP00000380505:A775S;ENSP00000416578:A775S;ENSP00000172853:A775S	ENSP00000172853:A775S	A	-	1	0	NEB	152253144	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.383000	0.44354	2.689000	0.91719	0.563000	0.77884	GCA	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	57	0	C	NM_004543		152544898	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	6.25	59	4	SNP	1.000	A
NECAB1	64168	genome.wustl.edu	37	8	91962099	91962100	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:91962099_91962100insGT	ENST00000417640.2	+	11	1262_1263	c.925_926insGT	c.(925-927)agtfs	p.S309fs	NECAB1_ENST00000521366.1_Frame_Shift_Ins_p.S58fs|NECAB1_ENST00000522820.1_Frame_Shift_Ins_p.S58fs	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	309	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GGAGAATAGTAGTGTATGGAAT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.928_929dupGT	8.37:g.91962102_91962103dupGT	ENSP00000387380:p.Ser309fs		Q6NUS7|Q96AZ7|Q9HBW8	Frame_Shift_Ins	INS	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.W311fs	ENST00000417640.2	37	c.925_926	CCDS47889.1	8																																																																																			NECAB1	-	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel	ENSG00000123119		0.361	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1		0.00	58	0	-	NM_022351		91962100	+1	tier1		no_errors	ENST00000417640	ensembl	human	known	74_37	frame_shift_ins	30.56	50	22	INS	1.000:0.999	GT
NEDD4	4734	genome.wustl.edu	37	15	56122187	56122187	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:56122187G>T	ENST00000508342.1	-	25	4167	c.3868C>A	c.(3868-3870)Ctg>Atg	p.L1290M	NEDD4_ENST00000338963.2_Missense_Mutation_p.L1218M|NEDD4_ENST00000435532.3_Missense_Mutation_p.L871M|NEDD4_ENST00000506154.1_Missense_Mutation_p.L1274M	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1290	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGCAAGTCCAGGCGATTAAAA	0.398																																																	0													70.0	63.0	66.0					15																	56122187		2193	4292	6485	SO:0001583	missense	0			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3868C>A	15.37:g.56122187G>T	ENSP00000424827:p.Leu1290Met		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.L1290M	ENST00000508342.1	37	c.3868		15	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194981	0.58017	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	6.08	-2.95	0.05564	HECT (4);	0.000000	0.85682	D	0.000000	D	0.86297	0.5899	H	0.96518	3.835	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;0.986;0.994;0.993	D;D;D;P	0.91635	0.999;0.962;0.932;0.888	D	0.86159	0.1592	10	0.72032	D	0.01	.	12.4586	0.55718	0.5094:0.0:0.4906:0.0	.	1274;871;1290;1218	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	M	1290;871;1218;1274	ENSP00000424827:L1290M;ENSP00000410613:L871M;ENSP00000345530:L1218M;ENSP00000422705:L1274M	ENSP00000345530:L1218M	L	-	1	2	NEDD4	53909479	0.997000	0.39634	0.914000	0.36105	0.926000	0.56050	1.223000	0.32527	-0.841000	0.04200	-0.469000	0.05056	CTG	NEDD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000069869		0.398	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1	-	0.00	89	0	G	NM_198400		56122187	-1	tier1	-	no_errors	ENST00000508342	ensembl	human	known	74_37	missense	10.71	75	9	SNP	0.743	T
NEDD9	4739	genome.wustl.edu	37	6	11191156	11191156	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:11191156C>T	ENST00000379446.5	-	5	1112	c.946G>A	c.(946-948)Gca>Aca	p.A316T	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.A316T	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	316					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.A316T(4)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			ACATCATATGCGTCGTTCTGA	0.572																																																	4	Substitution - Missense(4)	large_intestine(4)											71.0	74.0	73.0					6																	11191156		2203	4300	6503	SO:0001583	missense	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.946G>A	6.37:g.11191156C>T	ENSP00000368759:p.Ala316Thr		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.A316T	ENST00000379446.5	37	c.946	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627474	0.46944	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.39592	1.07;1.19	5.94	5.94	0.96194	.	0.290933	0.37577	N	0.002028	T	0.23094	0.0558	L	0.57536	1.79	0.80722	D	1	P;P;P	0.52577	0.81;0.825;0.954	B;B;B	0.35039	0.194;0.145;0.163	T	0.19353	-1.0308	10	0.10377	T	0.69	-23.9187	20.3633	0.98874	0.0:1.0:0.0:0.0	.	316;316;316	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	T	316	ENSP00000368759:A316T;ENSP00000422871:A316T	ENSP00000368759:A316T	A	-	1	0	NEDD9	11299142	0.998000	0.40836	0.239000	0.24122	0.059000	0.15707	3.460000	0.53028	2.826000	0.97356	0.561000	0.74099	GCA	NEDD9	-	NULL	ENSG00000111859		0.572	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	-	0.00	38	0	C	NM_006403		11191156	-1	tier1	-	no_errors	ENST00000379446	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.897	T
NEIL1	79661	genome.wustl.edu	37	15	75641538	75641538	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:75641538C>T	ENST00000564784.1	+	3	921	c.292C>T	c.(292-294)Cac>Tac	p.H98Y	NEIL1_ENST00000569035.1_Missense_Mutation_p.H98Y|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Missense_Mutation_p.H98Y			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	98					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						ACGCCATGCCCACCTGCGCTT	0.692								Base excision repair (BER), DNA glycosylases																																									0													29.0	30.0	29.0					15																	75641538		2195	4290	6485	SO:0001583	missense	0			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.292C>T	15.37:g.75641538C>T	ENSP00000457352:p.His98Tyr		D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	p.H98Y	ENST00000564784.1	37	c.292	CCDS10278.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.575331|4.575331	0.86645|0.86645	.|.	.|.	ENSG00000140398|ENSG00000140398	ENST00000355059|ENST00000336572	T|.	0.37915|.	1.17|.	5.4|5.4	5.4|5.4	0.78164|0.78164	DNA glycosylase/AP lyase, catalytic domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86851|0.86851	0.6032|0.6032	M|M	0.93763|0.93763	3.455|3.455	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90171|0.90171	0.4235|0.4235	10|6	0.87932|0.87932	D|D	0|0	-25.0088|-25.0088	18.146|18.146	0.89655|0.89655	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	98|.	Q96FI4|.	NEIL1_HUMAN|.	Y|L	98|83	ENSP00000347170:H98Y|.	ENSP00000347170:H98Y|ENSP00000338328:P83L	H|P	+|+	1|2	0|0	NEIL1|NEIL1	73428591|73428591	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.592000|0.592000	0.36648|0.36648	7.114000|7.114000	0.77103|0.77103	2.525000|2.525000	0.85131|0.85131	0.561000|0.561000	0.74099|0.74099	CAC|CCA	NEIL1	-	pfam_DNA_glycosylase/AP_lyase_cat,superfamily_DNA_glycosylase/AP_lyase_cat,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	ENSG00000140398		0.692	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL1	HGNC	protein_coding	OTTHUMT00000419885.1	-	0.00	91	0	C	NM_024608		75641538	+1	tier1	-	no_errors	ENST00000355059	ensembl	human	known	74_37	missense	35.71	44	25	SNP	1.000	T
NEIL3	55247	genome.wustl.edu	37	4	178283532	178283532	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:178283532delT	ENST00000264596.3	+	10	1843	c.1725delT	c.(1723-1725)aatfs	p.N575fs		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	575					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATGGAAAGAATTTTTTTGTGT	0.403								Base excision repair (BER), DNA glycosylases																																									0													94.0	100.0	97.0					4																	178283532		2203	4299	6502	SO:0001589	frameshift_variant	0			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1725delT	4.37:g.178283532delT	ENSP00000264596:p.Asn575fs		Q2PPJ3|Q8NG51|Q9NV95	Frame_Shift_Del	DEL	pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.F577fs	ENST00000264596.3	37	c.1725	CCDS3828.1	4																																																																																			NEIL3	-	pfam_Znf_GRF	ENSG00000109674		0.403	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	HGNC	protein_coding	OTTHUMT00000361914.1		0.00	66	0	T	NM_018248		178283532	+1	tier1		no_errors	ENST00000264596	ensembl	human	known	74_37	frame_shift_del	20.00	44	11	DEL	0.884	-
NELFB	25920	genome.wustl.edu	37	9	140166584	140166584	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:140166584C>T	ENST00000343053.4	+	11	1734	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	466					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T466M(2)									CACCTGCTCACGGGCAACCTT	0.617																																																	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											175.0	139.0	151.0					9																	140166584		2203	4300	6503	SO:0001583	missense	0			AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1397C>T	9.37:g.140166584C>T	ENSP00000339495:p.Thr466Met		A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	pfam_COBRA1	p.T466M	ENST00000343053.4	37	c.1397	CCDS7040.1	9	.	.	.	.	.	.	.	.	.	.	c	11.71	1.719744	0.30503	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.76	2.82	0.32997	.	0.147632	0.64402	N	0.000010	T	0.41213	0.1149	L	0.31294	0.92	0.44380	D	0.997283	B	0.19445	0.036	B	0.19148	0.024	T	0.28586	-1.0039	9	0.48119	T	0.1	-24.2188	7.2495	0.26142	0.0:0.7801:0.0:0.2199	.	466	Q8WX92	NELFB_HUMAN	M	466	.	ENSP00000339495:T466M	T	+	2	0	COBRA1	139286405	0.746000	0.28272	0.832000	0.32986	0.485000	0.33311	1.437000	0.34991	0.937000	0.37394	0.479000	0.44913	ACG	NELFB	-	pfam_COBRA1	ENSG00000188986		0.617	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELFB	HGNC	protein_coding	OTTHUMT00000254710.1	-	0.00	58	0	C	NM_015456		140166584	+1	tier1	-	no_errors	ENST00000343053	ensembl	human	known	74_37	missense	14.81	46	8	SNP	0.962	T
NES	10763	genome.wustl.edu	37	1	156640743	156640743	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156640743G>T	ENST00000368223.3	-	4	3369	c.3237C>A	c.(3235-3237)tcC>tcA	p.S1079S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1079	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGACCTCTGGGGAGGCTTGGT	0.706																																																	0													24.0	27.0	26.0					1																	156640743		2198	4285	6483	SO:0001819	synonymous_variant	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3237C>A	1.37:g.156640743G>T			O00552|Q3LIF5|Q5SYZ6	Silent	SNP	pfam_IF	p.S1079	ENST00000368223.3	37	c.3237	CCDS1151.1	1																																																																																			NES	-	NULL	ENSG00000132688		0.706	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0.00	57	0	G	NM_006617		156640743	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	silent	15.09	45	8	SNP	0.001	T
NES	10763	genome.wustl.edu	37	1	156641686	156641686	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156641686C>T	ENST00000368223.3	-	4	2426	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	765	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGACCTCCGTCGCTGTTGAGT	0.443																																																	0													87.0	88.0	87.0					1																	156641686		2203	4300	6503	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2294G>A	1.37:g.156641686C>T	ENSP00000357206:p.Arg765Gln		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.R765Q	ENST00000368223.3	37	c.2294	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	9.808	1.182252	0.21787	.	.	ENSG00000132688	ENST00000368223	D	0.85258	-1.96	4.31	2.34	0.29019	.	.	.	.	.	T	0.52757	0.1754	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52403	-0.8580	9	0.87932	D	0	.	8.9057	0.35521	0.0:0.1535:0.6665:0.18	.	765	P48681	NEST_HUMAN	Q	765	ENSP00000357206:R765Q	ENSP00000357206:R765Q	R	-	2	0	NES	154908310	0.000000	0.05858	0.007000	0.13788	0.172000	0.22775	-0.210000	0.09345	0.505000	0.28104	-0.241000	0.12123	CGA	NES	-	NULL	ENSG00000132688		0.443	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0.00	78	0	C	NM_006617		156641686	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	10.29	60	7	SNP	0.002	T
NEUROD1	4760	genome.wustl.edu	37	2	182542972	182542972	+	Frame_Shift_Del	DEL	G	G	-	rs201174472		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:182542972delG	ENST00000295108.3	-	2	1073	c.616delC	c.(616-618)cacfs	p.H206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTCGGCAGGTGGGGGGGCATG	0.617																																																	0																																										SO:0001589	frameshift_variant	0			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.616delC	2.37:g.182542972delG	ENSP00000295108:p.His206fs		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Del	DEL	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.H206fs	ENST00000295108.3	37	c.616	CCDS2283.1	2																																																																																			NEUROD1	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD	ENSG00000162992		0.617	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2		0.00	52	0	G	NM_002500		182542972	-1	tier1		no_errors	ENST00000295108	ensembl	human	known	74_37	frame_shift_del	13.64	38	6	DEL	0.996	-
NEUROG1	4762	genome.wustl.edu	37	5	134870770	134870770	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:134870770G>A	ENST00000314744.4	-	1	869	c.611C>T	c.(610-612)gCc>gTc	p.A204V		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	204					cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTTCGGAGGCGGCTGGGCT	0.677																																																	0													38.0	41.0	40.0					5																	134870770		2203	4300	6503	SO:0001583	missense	0			U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"""Basic helix-loop-helix proteins"""	7764	protein-coding gene	gene with protein product	"""neurogenic differentiation 3"""	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.611C>T	5.37:g.134870770G>A	ENSP00000317580:p.Ala204Val		Q5U0Q9|Q96HE1	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A204V	ENST00000314744.4	37	c.611	CCDS4187.1	5	.	.	.	.	.	.	.	.	.	.	G	6.614	0.481628	0.12581	.	.	ENSG00000181965	ENST00000314744	D	0.95377	-3.69	5.05	4.17	0.49024	.	0.454958	0.23060	U	0.052383	D	0.89368	0.6695	N	0.19112	0.55	0.09310	N	1	B	0.20052	0.041	B	0.19391	0.025	T	0.79591	-0.1740	10	0.33940	T	0.23	-14.1385	8.133	0.31037	0.0803:0.0:0.7609:0.1588	.	204	Q92886	NGN1_HUMAN	V	204	ENSP00000317580:A204V	ENSP00000317580:A204V	A	-	2	0	NEUROG1	134898669	0.999000	0.42202	0.196000	0.23383	0.248000	0.25809	4.622000	0.61240	1.082000	0.41137	-0.182000	0.12963	GCC	NEUROG1	-	NULL	ENSG00000181965		0.677	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG1	HGNC	protein_coding	OTTHUMT00000251192.1	-	0.00	141	0	G	NM_006161		134870770	-1	tier1	-	no_errors	ENST00000314744	ensembl	human	known	74_37	missense	11.00	89	11	SNP	0.164	A
NEUROG1	4762	genome.wustl.edu	37	5	134871227	134871227	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:134871227C>T	ENST00000314744.4	-	1	412	c.154G>A	c.(154-156)Gcg>Acg	p.A52T		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	52					cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATATTgggcgcgcccctgcgg	0.736																																																	0													4.0	5.0	5.0					5																	134871227		2015	3967	5982	SO:0001583	missense	0			U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"""Basic helix-loop-helix proteins"""	7764	protein-coding gene	gene with protein product	"""neurogenic differentiation 3"""	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.154G>A	5.37:g.134871227C>T	ENSP00000317580:p.Ala52Thr		Q5U0Q9|Q96HE1	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A52T	ENST00000314744.4	37	c.154	CCDS4187.1	5	.	.	.	.	.	.	.	.	.	.	C	1.861	-0.462734	0.04508	.	.	ENSG00000181965	ENST00000314744	D	0.95205	-3.64	4.7	2.88	0.33553	.	1.067500	0.07369	N	0.885469	D	0.88198	0.6372	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73817	-0.3863	10	0.14656	T	0.56	-12.198	8.3702	0.32410	0.0:0.7607:0.1551:0.0841	.	52	Q92886	NGN1_HUMAN	T	52	ENSP00000317580:A52T	ENSP00000317580:A52T	A	-	1	0	NEUROG1	134899126	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.309000	0.08145	0.401000	0.25424	-0.258000	0.10820	GCG	NEUROG1	-	NULL	ENSG00000181965		0.736	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG1	HGNC	protein_coding	OTTHUMT00000251192.1		0.00	18	0	C	NM_006161		134871227	-1			no_errors	ENST00000314744	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.000	T
NEUROG3	50674	genome.wustl.edu	37	10	71332488	71332488	+	Silent	SNP	G	G	A	rs373071581		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:71332488G>A	ENST00000242462.4	-	2	341	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGCGCAGGGCGTCCAGTGCCG	0.612																																																	0								G		0,4406		0,0,2203	101.0	67.0	79.0		312	3.6	1.0	10		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NEUROG3	NM_020999.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		104/215	71332488	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.312C>T	10.37:g.71332488G>A			Q5VVI0|Q6DJX6|Q9BY24	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.D104	ENST00000242462.4	37	c.312	CCDS31212.1	10																																																																																			NEUROG3	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000122859		0.612	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG3	HGNC	protein_coding	OTTHUMT00000048464.1	-	0.00	45	0	G	NM_020999		71332488	-1	tier1	-	no_errors	ENST00000242462	ensembl	human	known	74_37	silent	13.04	40	6	SNP	1.000	A
NEXN	91624	genome.wustl.edu	37	1	78354426	78354426	+	5'UTR	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:78354426G>A	ENST00000334785.7	+	0	114				NEXN_ENST00000294624.8_5'UTR|NEXN-AS1_ENST00000597757.1_RNA|NEXN_ENST00000330010.8_5'UTR|NEXN-AS1_ENST00000421331.1_RNA|NEXN_ENST00000457030.1_5'UTR	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TACCTTCGCCGGTCACCGGCT	0.692																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.-71G>A	1.37:g.78354426G>A				RNA	SNP	-	NULL	ENST00000334785.7	37	NULL	CCDS41351.1	1																																																																																			NEXN-AS1	-	-	ENSG00000235927		0.692	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN-AS1	HGNC	protein_coding	OTTHUMT00000097549.1	-	0.00	156	0	G	NM_144573		78354426	-1	tier1	-	no_errors	ENST00000421331	ensembl	human	known	74_37	rna	17.28	134	28	SNP	0.000	A
NFASC	23114	genome.wustl.edu	37	1	204923438	204923439	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:204923438_204923439insG	ENST00000401399.1	+	5	537_538	c.338_339insG	c.(337-342)gaggggfs	p.EG113fs	NFASC_ENST00000367172.4_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.EG107fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.EG107fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.EG107fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.EG107fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.EG107fs			O94856	NFASC_HUMAN	neurofascin	113	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAGGAATATGAGGGGGAATATC	0.589																																																	0																																										SO:0001589	frameshift_variant	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.343dupG	1.37:g.204923443_204923443dupG	ENSP00000385637:p.Glu113fs		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E115fs	ENST00000401399.1	37	c.338_339	CCDS53460.1	1																																																																																			NFASC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000163531		0.589	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1		0.00	72	0	-	NM_001005388		204923439	+1	tier1		no_errors	ENST00000367172	ensembl	human	known	74_37	frame_shift_ins	11.27	63	8	INS	1.000:1.000	G
NFASC	23114	genome.wustl.edu	37	1	204939850	204939850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:204939850G>A	ENST00000401399.1	+	10	1309	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*	NFASC_ENST00000367172.4_Nonsense_Mutation_p.W370*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.W381*|NFASC_ENST00000404907.1_Nonsense_Mutation_p.W381*|NFASC_ENST00000338586.6_Nonsense_Mutation_p.W370*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.W370*|NFASC_ENST00000367171.4_Nonsense_Mutation_p.W370*|NFASC_ENST00000367170.4_Nonsense_Mutation_p.W370*|NFASC_ENST00000367169.4_Nonsense_Mutation_p.W370*|NFASC_ENST00000338515.6_Nonsense_Mutation_p.W370*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.W381*|NFASC_ENST00000403080.1_Nonsense_Mutation_p.W370*|NFASC_ENST00000360049.4_Nonsense_Mutation_p.W381*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.W364*			O94856	NFASC_HUMAN	neurofascin	370	Ig-like C2-type 4.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTGTCCAGTGGATGGTGAATG	0.532																																																	0													128.0	104.0	112.0					1																	204939850		2203	4300	6503	SO:0001587	stop_gained	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1110G>A	1.37:g.204939850G>A	ENSP00000385637:p.Trp370*		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W370*	ENST00000401399.1	37	c.1110	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.819023|9.819023	0.99272|0.99272	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.50627	.|D	.|0.000105	T|.	0.47600|.	0.1454|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37079|.	-0.9721|.	3|.	.|0.02654	.|T	.|1	.|.	19.2963|19.2963	0.94124|0.94124	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	340|370;370;370;370;370;370;381;381;381;370;370;364;370;381;381;357	.|.	.|ENSP00000295776:W381X	G|W	+|+	2|3	0|0	NFASC|NFASC	203206473|203206473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.757000|9.757000	0.98924|0.98924	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GGA|TGG	NFASC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000163531		0.532	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	-	0.00	62	0	G	NM_001005388		204939850	+1	tier1	-	no_errors	ENST00000367172	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	A
NFATC2	4773	genome.wustl.edu	37	20	50139933	50139933	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:50139933C>T	ENST00000396009.3	-	2	1066	c.847G>A	c.(847-849)Gtg>Atg	p.V283M	NFATC2_ENST00000414705.1_Missense_Mutation_p.V263M|NFATC2_ENST00000610033.1_Missense_Mutation_p.V64M|NFATC2_ENST00000609943.1_Missense_Mutation_p.V263M|NFATC2_ENST00000371564.3_Missense_Mutation_p.V283M|NFATC2_ENST00000609507.1_Missense_Mutation_p.V64M	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	283	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGGGGTGCCACGTGAGATGAG	0.711																																																	0													9.0	11.0	10.0					20																	50139933		2166	4229	6395	SO:0001583	missense	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.847G>A	20.37:g.50139933C>T	ENSP00000379330:p.Val283Met		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.V283M	ENST00000396009.3	37	c.847	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	C	5.518	0.280487	0.10458	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.80033	-1.33;-1.33;-1.33	3.24	-0.451	0.12214	.	0.725664	0.12999	N	0.421799	T	0.69043	0.3067	L	0.58810	1.83	0.09310	N	1	P;D;D;D	0.56035	0.943;0.974;0.974;0.974	B;B;B;B	0.37508	0.252;0.252;0.186;0.186	T	0.62253	-0.6893	10	0.54805	T	0.06	-2.2297	4.9352	0.13937	0.0:0.4369:0.3187:0.2444	.	263;263;283;283	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	M	283;283;64;263	ENSP00000360619:V283M;ENSP00000379330:V283M;ENSP00000396471:V263M	ENSP00000360619:V283M	V	-	1	0	NFATC2	49573340	0.000000	0.05858	0.823000	0.32752	0.522000	0.34438	-1.273000	0.02823	0.330000	0.23485	-0.666000	0.03841	GTG	NFATC2	-	NULL	ENSG00000101096		0.711	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	-	0.00	36	0	C	NM_012340		50139933	-1	tier1	-	no_errors	ENST00000396009	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.066	T
NFIB	4781	genome.wustl.edu	37	9	14113047	14113047	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:14113047C>T	ENST00000380959.3	-	8	1719				NFIB_ENST00000380953.1_Missense_Mutation_p.R473Q|NFIB_ENST00000397581.2_Missense_Mutation_p.R482Q|NFIB_ENST00000380934.4_Intron|NFIB_ENST00000380924.1_Intron|NFIB_ENST00000543693.1_Missense_Mutation_p.R221Q|NFIB_ENST00000397575.3_Missense_Mutation_p.R473Q|NFIB_ENST00000397579.2_Intron	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TCCCACATATCGATTGGCTTG	0.478			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)			Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	0																																										SO:0001627	intron_variant	0			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.1245+7391G>A	9.37:g.14113047C>T			G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.R482Q	ENST00000380959.3	37	c.1445	CCDS6474.1	9	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653831	0.88056	.	.	ENSG00000147862	ENST00000380953;ENST00000397575;ENST00000397581;ENST00000543693	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	L	0.56199	1.76	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.947	T	0.74019	-0.3799	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	473;221	Q5VW29;G3V1P1	.;.	Q	473;473;482;221	ENSP00000370340:R473Q;ENSP00000380705:R473Q;ENSP00000380711:R482Q;ENSP00000442888:R221Q	ENSP00000370340:R473Q	R	-	2	0	NFIB	14103047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.581000	0.67471	2.885000	0.99019	0.655000	0.94253	CGA	NFIB	-	pfam_CTF/NFI	ENSG00000147862		0.478	NFIB-001	KNOWN	basic|CCDS	protein_coding	NFIB	HGNC	protein_coding	OTTHUMT00000055468.1	-	0.00	37	0	C	NM_005596		14113047	-1	tier1	-	no_errors	ENST00000397581	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	T
NFIX	4784	genome.wustl.edu	37	19	13186359	13186359	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:13186359C>T	ENST00000592199.1	+	6	829	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	NFIX_ENST00000588228.1_Missense_Mutation_p.R230C|NFIX_ENST00000358552.3_Missense_Mutation_p.R276C|NFIX_ENST00000587760.1_Missense_Mutation_p.R269C|NFIX_ENST00000587260.1_Missense_Mutation_p.R276C|NFIX_ENST00000585575.1_Missense_Mutation_p.R269C|NFIX_ENST00000397661.2_Missense_Mutation_p.R277C|NFIX_ENST00000360105.4_Missense_Mutation_p.R280C			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	277					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACCACCAAGCGCCCCAAGTC	0.582																																																	0													52.0	58.0	56.0					19																	13186359		2071	4212	6283	SO:0001583	missense	0			U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.829C>T	19.37:g.13186359C>T	ENSP00000467512:p.Arg277Cys		B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.R269C	ENST00000592199.1	37	c.805		19	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642230	0.67244	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000358552	T;T	0.60672	0.17;0.17	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	M	0.66939	2.045	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.995;0.999;0.996	T	0.75144	-0.3421	10	0.87932	D	0	.	12.2351	0.54512	0.1709:0.8291:0.0:0.0	.	285;276;280;277;277	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	C	277;277;280;276	ENSP00000380781:R277C;ENSP00000351354:R276C	ENSP00000264825:R280C	R	+	1	0	NFIX	13047359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.378000	0.44309	2.440000	0.82611	0.561000	0.74099	CGC	NFIX	-	pfam_CTF/NFI	ENSG00000008441		0.582	NFIX-013	NOVEL	basic	protein_coding	NFIX	HGNC	protein_coding	OTTHUMT00000452763.1		0.00	72	0	C	NM_002501		13186359	+1			no_errors	ENST00000585575	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
ATP6V1G2	534	genome.wustl.edu	37	6	31515510	31515510	+	5'Flank	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31515510C>A	ENST00000303892.5	-	0	0				ATP6V1G2-DDX39B_ENST00000376185.1_5'Flank|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|ATP6V1G2_ENST00000376151.4_5'Flank|ATP6V1G2_ENST00000483251.1_5'Flank|NFKBIL1_ENST00000376145.4_Silent_p.A13A|ATP6V1G2_ENST00000483170.1_5'Flank|NFKBIL1_ENST00000376148.4_Silent_p.A13A	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2						cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGGAAGAAGCCTCCACATCTG	0.478																																																	0													30.0	30.0	30.0					6																	31515510		1511	2709	4220	SO:0001631	upstream_gene_variant	0			Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618		6.37:g.31515510C>A	Exception_encountered		B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Silent	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.A13	ENST00000303892.5	37	c.39	CCDS4698.1	6																																																																																			NFKBIL1	-	NULL	ENSG00000204498		0.478	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIL1	HGNC	protein_coding	OTTHUMT00000076399.3	-	0.00	152	0	C	NM_130463		31515510	+1	tier1	-	no_errors	ENST00000376148	ensembl	human	known	74_37	silent	11.84	134	18	SNP	1.000	A
NHLH2	4808	genome.wustl.edu	37	1	116380789	116380789	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:116380789G>A	ENST00000369506.1	-	1	5749	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	NHLH2_ENST00000320238.3_Missense_Mutation_p.R69C			Q02577	HEN2_HUMAN	nescient helix loop helix 2	69	Poly-Arg.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGGCGGCGGCGCTTCTCCTCG	0.746																																																	0													8.0	10.0	9.0					1																	116380789		2113	4032	6145	SO:0001583	missense	0				CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"""Basic helix-loop-helix proteins"""	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.205C>T	1.37:g.116380789G>A	ENSP00000358519:p.Arg69Cys		Q5T1P6	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R69C	ENST00000369506.1	37	c.205	CCDS885.1	1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398723	0.62177	.	.	ENSG00000177551	ENST00000320238;ENST00000369506;ENST00000429731	D;D	0.97352	-4.35;-4.35	4.49	3.58	0.41010	Helix-loop-helix DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.83972	0.5370	N	0.08118	0	0.80722	D	1	P	0.48589	0.912	B	0.34242	0.178	D	0.85628	0.1268	10	0.51188	T	0.08	-14.9135	8.8185	0.35011	0.0806:0.0:0.7706:0.1488	.	69	Q02577	HEN2_HUMAN	C	69	ENSP00000322087:R69C;ENSP00000358519:R69C	ENSP00000322087:R69C	R	-	1	0	NHLH2	116182312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.100000	0.57762	0.890000	0.36211	0.561000	0.74099	CGC	NHLH2	-	pfscan_bHLH_dom	ENSG00000177551		0.746	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NHLH2	HGNC	protein_coding	OTTHUMT00000033090.1	-	0.00	50	0	G	NM_005599		116380789	-1	tier1	-	no_errors	ENST00000320238	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	A
NIPBL	25836	genome.wustl.edu	37	5	36961634	36961634	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:36961634G>T	ENST00000282516.8	+	5	906	c.407G>T	c.(406-408)aGt>aTt	p.S136I	NIPBL_ENST00000448238.2_Missense_Mutation_p.S136I|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	136					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATGCACAGTAGTCCTGCATCT	0.328																																																	0													152.0	150.0	151.0					5																	36961634		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.407G>T	5.37:g.36961634G>T	ENSP00000282516:p.Ser136Ile		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S136I	ENST00000282516.8	37	c.407	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842437	0.71488	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95885	-3.83;-3.84	5.01	5.01	0.66863	.	0.112837	0.64402	D	0.000006	D	0.95172	0.8435	M	0.62723	1.935	0.48288	D	0.99962	P;P	0.47191	0.826;0.891	B;P	0.45232	0.282;0.474	D	0.95881	0.8899	10	0.87932	D	0	.	18.2672	0.90055	0.0:0.0:1.0:0.0	.	136;136	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	I	136	ENSP00000282516:S136I;ENSP00000406266:S136I	ENSP00000282516:S136I	S	+	2	0	NIPBL	36997391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.310000	0.78947	2.481000	0.83766	0.655000	0.94253	AGT	NIPBL	-	NULL	ENSG00000164190		0.328	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0.00	73	0	G	NM_015384		36961634	+1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
NIPBL	25836	genome.wustl.edu	37	5	36985453	36985453	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:36985453delC	ENST00000282516.8	+	10	2670	c.2171delC	c.(2170-2172)accfs	p.T724fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.T724fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	724					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CATCCTGAAACCCCAAAACAG	0.478																																																	0													61.0	65.0	64.0					5																	36985453		2202	4300	6502	SO:0001589	frameshift_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2171delC	5.37:g.36985453delC	ENSP00000282516:p.Thr724fs		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.P725fs	ENST00000282516.8	37	c.2171	CCDS3920.1	5																																																																																			NIPBL	-	NULL	ENSG00000164190		0.478	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1		0.00	23	0	C	NM_015384		36985453	+1	tier1		no_errors	ENST00000282516	ensembl	human	known	74_37	frame_shift_del	23.81	16	5	DEL	1.000	-
NISCH	11188	genome.wustl.edu	37	3	52514214	52514214	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:52514214C>T	ENST00000479054.1	+	14	1503	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	NISCH_ENST00000420808.2_Silent_p.S477S|NISCH_ENST00000345716.4_Silent_p.S477S|NISCH_ENST00000488380.1_Silent_p.S477S			Q9Y2I1	NISCH_HUMAN	nischarin	477	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GTGAAGACTCCCGGCTCTCAG	0.647																																																	0													80.0	77.0	78.0					3																	52514214		2203	4300	6503	SO:0001819	synonymous_variant	0			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1431C>T	3.37:g.52514214C>T			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.S477	ENST00000479054.1	37	c.1431	CCDS33767.1	3																																																																																			NISCH	-	NULL	ENSG00000010322		0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	-	0.00	61	0	C	NM_007184		52514214	+1	tier1	-	no_errors	ENST00000345716	ensembl	human	known	74_37	silent	22.00	39	11	SNP	0.519	T
NKD1	85407	genome.wustl.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(856-858)cccfs	p.P286fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599																																																	0																																										SO:0001589	frameshift_variant	0			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.862dupC	16.37:g.50667141_50667141dupC	ENSP00000268459:p.Pro286fs		B2RC39|Q8WZ08	Frame_Shift_Ins	INS	pfscan_EF_hand_dom	p.R287fs	ENST00000268459.3	37	c.855_856	CCDS10743.1	16																																																																																			NKD1	-	NULL	ENSG00000140807		0.599	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKD1	HGNC	protein_coding	OTTHUMT00000256873.1		0.00	77	0	0			50667135	+1			no_errors	ENST00000268459	ensembl	human	known	74_37	frame_shift_ins	9.86	64	7	INS	1.000:1.000	C
NKX2-1	7080	genome.wustl.edu	37	14	36986897	36986897	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:36986897G>A	ENST00000518149.1	-	3	1307	c.702C>T	c.(700-702)ggC>ggT	p.G234G	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Silent_p.G264G|NKX2-1_ENST00000522719.2_Silent_p.G234G|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_Silent_p.G234G			P43699	NKX21_HUMAN	NK2 homeobox 1	234	Poly-Gly.				anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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 migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		ccccgccgccgccgctgtcct	0.697			A		NSCLC																																			Dom	yes		14	14q13	7080	NK2 homeobox 1		E	0													9.0	8.0	8.0					14																	36986897		2180	4253	6433	SO:0001819	synonymous_variant	0				CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.702C>T	14.37:g.36986897G>A			D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G264	ENST00000518149.1	37	c.792	CCDS9659.1	14																																																																																			NKX2-1	-	NULL	ENSG00000136352		0.697	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NKX2-1	HGNC	protein_coding	OTTHUMT00000376225.2		0.00	59	0	G	NM_003317		36986897	-1			no_errors	ENST00000354822	ensembl	human	known	74_37	silent	17.78	37	8	SNP	1.000	A
NKX2-6	137814	genome.wustl.edu	37	8	23563932	23563932	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:23563932G>A	ENST00000325017.3	-	1	179	c.180C>T	c.(178-180)ggC>ggT	p.G60G	RP11-175E9.1_ENST00000523874.1_RNA|NKX2-6_ENST00000418222.1_5'Flank	NM_001136271.2	NP_001129743.2	A6NCS4	NKX26_HUMAN	NK2 homeobox 6	60	Poly-Gly.				atrial cardiac muscle cell development (GO:0055014)|cell differentiation (GO:0030154)|digestive tract development (GO:0048565)|embryonic heart tube development (GO:0035050)|hypothalamus development (GO:0021854)|negative regulation of apoptotic process (GO:0043066)|pericardium development (GO:0060039)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CACCGCCGCCGCCACCAGCGT	0.637																																																	0													14.0	18.0	17.0					8																	23563932		692	1591	2283	SO:0001819	synonymous_variant	0			CN272646		8p21.2	2012-03-09	2011-06-01			ENSG00000180053		"""Homeoboxes / ANTP class : NKL subclass"""	32940	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	611770	"""NK2 transcription factor related, locus 6 (Drosophila)"""			15649947	Standard	NM_001136271		Approved	CSX2, NKX4-2	uc011kzy.3	A6NCS4		ENST00000325017.3:c.180C>T	8.37:g.23563932G>A				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G60	ENST00000325017.3	37	c.180		8																																																																																			NKX2-6	-	NULL	ENSG00000180053		0.637	NKX2-6-001	KNOWN	basic|appris_principal	protein_coding	NKX2-6	HGNC	protein_coding	OTTHUMT00000376057.4	-	0.00	155	0	G	NM_001136271		23563932	-1	tier1	-	no_errors	ENST00000325017	ensembl	human	known	74_37	silent	22.56	127	37	SNP	0.002	A
NLE1	54475	genome.wustl.edu	37	17	33462280	33462280	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:33462280C>A	ENST00000442241.4	-	10	1241	c.1202G>T	c.(1201-1203)gGc>gTc	p.G401V	NLE1_ENST00000360831.5_Missense_Mutation_p.G359V|NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000586869.1_Missense_Mutation_p.G109V	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	401					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GCCCGTCCTGCCATCCCACAG	0.557																																																	0													169.0	138.0	148.0					17																	33462280		2203	4300	6503	SO:0001583	missense	0				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1202G>T	17.37:g.33462280C>A	ENSP00000413572:p.Gly401Val		O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B	p.G401V	ENST00000442241.4	37	c.1202	CCDS11291.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.604129|4.604129	0.87157|0.87157	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000436188|ENST00000442241;ENST00000360831;ENST00000537697	.|T	.|0.34275	.|1.37	5.11|5.11	5.11|5.11	0.69529|0.69529	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.|0.050131	.|0.85682	.|D	.|0.000000	T|T	0.25232|0.25232	0.0613|0.0613	N|N	0.02334|0.02334	-0.595|-0.595	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52577	.|0.947;0.954	.|P;B	.|0.50490	.|0.642;0.255	T|T	0.32052|0.32052	-0.9921|-0.9921	5|10	.|0.40728	.|T	.|0.16	-34.3463|-34.3463	16.0884|16.0884	0.81073|0.81073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|377;401	.|B4E074;Q9NVX2	.|.;NLE1_HUMAN	S|V	181|401;109;377	.|ENSP00000413572:G401V	.|ENSP00000354075:G109V	A|G	-|-	1|2	0|0	NLE1|NLE1	30486393|30486393	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.999000|0.999000	0.98932|0.98932	7.122000|7.122000	0.77169|0.77169	2.637000|2.637000	0.89404|0.89404	0.650000|0.650000	0.86243|0.86243	GCA|GGC	NLE1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000073536		0.557	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLE1	HGNC	protein_coding	OTTHUMT00000256441.2	-	0.00	56	0	C	NM_018096		33462280	-1	tier1	-	no_errors	ENST00000442241	ensembl	human	known	74_37	missense	10.94	57	7	SNP	0.999	A
NLGN3	54413	genome.wustl.edu	37	X	70367609	70367609	+	Missense_Mutation	SNP	C	C	T	rs376877146		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:70367609C>T	ENST00000358741.3	+	2	313	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	NLGN3_ENST00000536169.1_Missense_Mutation_p.R4W|NLGN3_ENST00000374051.3_Missense_Mutation_p.R4W	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	4					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CATGTGGCTGCGGCTTGGCCC	0.647													C|||	8	0.00211921	0.0	0.0	3775	,	,		12564	0.0		0.0	False		,,,				2504	0.0082				Esophageal Squamous(103;760 1488 16849 22250 40351)												0								C	TRP/ARG,TRP/ARG,TRP/ARG	0,3771		0,0,1612,547	14.0	13.0	14.0		10,10,10	1.6	1.0	X		14	1,6582		0,1,2395,1791	no	missense,missense,missense	NLGN3	NM_001166660.1,NM_018977.3,NM_181303.1	101,101,101	0,1,4007,2338	TT,TC,CC,C		0.0152,0.0,0.0097	possibly-damaging,possibly-damaging,possibly-damaging	4/809,4/829,4/849	70367609	1,10353	2159	4187	6346	SO:0001583	missense	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.10C>T	X.37:g.70367609C>T	ENSP00000351591:p.Arg4Trp		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R4W	ENST00000358741.3	37	c.10	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927184	0.18056	0.0	1.52E-4	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.70045	-0.22;-0.21;-0.45;-0.25	4.35	1.62	0.23740	.	1.553620	0.03657	N	0.242027	T	0.46229	0.1382	N	0.08118	0	0.20074	N	0.999932	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.36578	-0.9742	10	0.59425	D	0.04	.	3.5899	0.07985	0.1858:0.4136:0.0:0.4006	.	4;4;4	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	W	4	ENSP00000445298:R4W;ENSP00000363163:R4W;ENSP00000379196:R4W;ENSP00000351591:R4W	ENSP00000351591:R4W	R	+	1	2	NLGN3	70284334	0.989000	0.36119	0.981000	0.43875	0.974000	0.67602	0.443000	0.21644	0.032000	0.15435	-0.297000	0.09499	CGG	NLGN3	-	NULL	ENSG00000196338		0.647	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	-	0.00	56	0	C	NM_018977		70367609	+1	tier1	-	no_errors	ENST00000358741	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.816	T
NLRP2	55655	genome.wustl.edu	37	19	55494830	55494830	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:55494830C>T	ENST00000543010.1	+	6	1907	c.1764C>T	c.(1762-1764)tgC>tgT	p.C588C	NLRP2_ENST00000427260.2_Silent_p.C565C|NLRP2_ENST00000538819.1_Silent_p.C564C|NLRP2_ENST00000391721.4_Silent_p.C564C|NLRP2_ENST00000537859.1_Silent_p.C566C|NLRP2_ENST00000339757.7_Silent_p.C566C|NLRP2_ENST00000263437.6_Silent_p.C585C|NLRP2_ENST00000448584.2_Silent_p.C588C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	588					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGCTGCGATGCGACATAAGTT	0.547																																																	0													104.0	90.0	95.0					19																	55494830		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1764C>T	19.37:g.55494830C>T			B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.C588	ENST00000543010.1	37	c.1764	CCDS12913.1	19																																																																																			NLRP2	-	NULL	ENSG00000022556		0.547	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	-	0.00	54	0	C	NM_017852		55494830	+1	tier1	-	no_errors	ENST00000448584	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.001	T
NLRP5	126206	genome.wustl.edu	37	19	56538313	56538313	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:56538313C>T	ENST00000390649.3	+	7	714	c.714C>T	c.(712-714)caC>caT	p.H238H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	238					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACAAGAGTCACGTGATGACCA	0.498																																																	0													58.0	58.0	58.0					19																	56538313		1794	3469	5263	SO:0001819	synonymous_variant	0			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.714C>T	19.37:g.56538313C>T			A8MTY4|Q86W29	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.H238	ENST00000390649.3	37	c.714	CCDS12938.1	19																																																																																			NLRP5	-	superfamily_P-loop_NTPase	ENSG00000171487		0.498	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	-	0.00	42	0	C	NM_153447		56538313	+1	tier1	-	no_errors	ENST00000390649	ensembl	human	known	74_37	silent	27.91	31	12	SNP	0.008	T
NLRP6	171389	genome.wustl.edu	37	11	285298	285298	+	Silent	SNP	C	C	A	rs368470202		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:285298C>A	ENST00000312165.5	+	8	2673	c.2673C>A	c.(2671-2673)acC>acA	p.T891T	RP11-326C3.2_ENST00000534742.1_RNA|NLRP6_ENST00000534750.1_Silent_p.T890T|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	891					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCATCTCGACCTTCTGAGGCT	0.587																																																	0								C		0,4406		0,0,2203	66.0	57.0	60.0		2673	2.2	0.0	11		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP6	NM_138329.1		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		891/893	285298	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2673C>A	11.37:g.285298C>A			A8K9F3|E9PJZ8	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T891	ENST00000312165.5	37	c.2673	CCDS7693.1	11																																																																																			NLRP6	-	NULL	ENSG00000174885		0.587	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	-	0.00	43	0	C	NM_138329		285298	+1	tier1	-	no_errors	ENST00000312165	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.037	A
NLRP7	199713	genome.wustl.edu	37	19	55447775	55447775	+	Silent	SNP	G	G	A	rs372489727		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:55447775G>A	ENST00000590030.1	-	5	2194	c.2154C>T	c.(2152-2154)acC>acT	p.T718T	NLRP7_ENST00000592784.1_Silent_p.T718T|NLRP7_ENST00000328092.5_Silent_p.T690T|NLRP7_ENST00000340844.2_Silent_p.T718T|NLRP7_ENST00000446217.1_Silent_p.T746T|NLRP7_ENST00000588756.1_Silent_p.T718T|NLRP7_ENST00000448121.2_Silent_p.T690T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	718							ATP binding (GO:0005524)	p.T690T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCCGGTACGCGGTGTCAGGGG	0.498																																																	1	Substitution - coding silent(1)	skin(1)						G	,,	1,4405	2.1+/-5.4	0,1,2202	87.0	77.0	80.0		2154,2070,2154	-4.4	0.0	19		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	718/1038,690/1010,718/981	55447775	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2154C>T	19.37:g.55447775G>A			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T746	ENST00000590030.1	37	c.2238	CCDS33109.1	19																																																																																			NLRP7	-	NULL	ENSG00000167634		0.498	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	-	0.00	12	0	G	NM_139176		55447775	-1	tier1	-	no_errors	ENST00000446217	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.000	A
NLRP9	338321	genome.wustl.edu	37	19	56244406	56244406	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:56244406T>A	ENST00000332836.2	-	2	818	c.791A>T	c.(790-792)aAg>aTg	p.K264M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	264	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGGAAGCATCTTTTTTTGCAA	0.413																																																	0													59.0	59.0	59.0					19																	56244406		2203	4300	6503	SO:0001583	missense	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.791A>T	19.37:g.56244406T>A	ENSP00000331857:p.Lys264Met		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K264M	ENST00000332836.2	37	c.791	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	T	12.06	1.824633	0.32237	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.80480	-1.38	2.46	0.123	0.14709	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.88396	0.6425	M	0.84511	2.7	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.77629	-0.2516	9	0.49607	T	0.09	.	9.1312	0.36846	0.0:0.0:0.6753:0.3246	.	264	Q7RTR0	NALP9_HUMAN	M	264	ENSP00000331857:K264M	ENSP00000331857:K264M	K	-	2	0	NLRP9	60936218	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.885000	0.04161	-0.012000	0.14223	0.524000	0.50904	AAG	NLRP9	-	pfscan_NACHT_NTPase	ENSG00000185792		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1		0.00	38	0	T	NM_176820		56244406	-1			no_errors	ENST00000332836	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.000	A
NMB	4828	genome.wustl.edu	37	15	85198627	85198627	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:85198627A>G	ENST00000360476.3	-	3	739	c.344T>C	c.(343-345)cTg>cCg	p.L115P	WDR73_ENST00000398528.3_5'Flank|WDR73_ENST00000434634.2_5'Flank|NMB_ENST00000394588.3_Silent_p.A113A			P08949	NMB_HUMAN	neuromedin B	115					arachidonic acid secretion (GO:0050482)|cell-cell signaling (GO:0007267)|glucose homeostasis (GO:0042593)|negative regulation of hormone secretion (GO:0046888)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hormone secretion (GO:0046887)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|neuron projection (GO:0043005)	hormone activity (GO:0005179)			endometrium(1)	1				all cancers(203;3.5e-06)		TATTTGTACCAGCAGCCTCCT	0.507																																																	0													189.0	188.0	189.0					15																	85198627		2203	4299	6502	SO:0001583	missense	0				CCDS10332.1, CCDS42076.1	15q25.2-q25.3	2013-09-19			ENSG00000197696	ENSG00000197696			7842	protein-coding gene	gene with protein product		162340				2458345	Standard	NM_021077		Approved	MGC2277, MGC3936, MGC17211	uc002bla.3	P08949	OTTHUMG00000148666	ENST00000360476.3:c.344T>C	15.37:g.85198627A>G	ENSP00000353664:p.Leu115Pro		Q96A06|Q96HH5	Missense_Mutation	SNP	pfam_Bombesin	p.L115P	ENST00000360476.3	37	c.344	CCDS10332.1	15	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971361	0.34754	.	.	ENSG00000197696	ENST00000360476	T	0.56941	0.43	4.77	3.65	0.41850	.	.	.	.	.	T	0.40886	0.1135	.	.	.	0.80722	D	1	B	0.29646	0.253	B	0.26517	0.07	T	0.31280	-0.9949	8	0.54805	T	0.06	1.3466	6.8392	0.23953	0.8964:0.0:0.1036:0.0	.	115	P08949	NMB_HUMAN	P	115	ENSP00000353664:L115P	ENSP00000353664:L115P	L	-	2	0	NMB	82999631	0.336000	0.24757	0.987000	0.45799	0.958000	0.62258	1.030000	0.30153	0.863000	0.35553	0.533000	0.62120	CTG	NMB	-	NULL	ENSG00000197696		0.507	NMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMB	HGNC	protein_coding	OTTHUMT00000308995.1	-	0.00	70	0	A	NM_021077		85198627	-1	tier1	-	no_errors	ENST00000360476	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.981	G
NMNAT2	23057	genome.wustl.edu	37	1	183261950	183261950	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:183261950C>G	ENST00000287713.6	-	3	551	c.217G>C	c.(217-219)Gcc>Ccc	p.A73P	NMNAT2_ENST00000473046.1_5'Flank|NMNAT2_ENST00000294868.4_Missense_Mutation_p.A68P	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	73					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TTCTGGACGGCCAGCTGACAC	0.567																																																	0													65.0	56.0	59.0					1																	183261950		2203	4300	6503	SO:0001583	missense	0			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.217G>C	1.37:g.183261950C>G	ENSP00000287713:p.Ala73Pro		O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	pfam_Cyt_trans-like	p.A73P	ENST00000287713.6	37	c.217	CCDS1353.1	1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011372	0.93346	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.97850	-4.57;-4.57	5.23	5.23	0.72850	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.051972	0.85682	N	0.000000	D	0.98676	0.9556	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99849	1.1069	10	0.87932	D	0	-9.5557	17.3881	0.87422	0.0:1.0:0.0:0.0	.	73;68	Q9BZQ4;Q9BZQ4-2	NMNA2_HUMAN;.	P	73;68	ENSP00000287713:A73P;ENSP00000294868:A68P	ENSP00000287713:A73P	A	-	1	0	NMNAT2	181528573	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.751000	0.74893	2.438000	0.82558	0.557000	0.71058	GCC	NMNAT2	-	pfam_Cyt_trans-like	ENSG00000157064		0.567	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT2	HGNC	protein_coding	OTTHUMT00000086255.1	-	0.00	50	0	C			183261950	-1	tier1	-	no_errors	ENST00000287713	ensembl	human	known	74_37	missense	24.56	43	14	SNP	1.000	G
NOG	9241	genome.wustl.edu	37	17	54671870	54671870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:54671870delG	ENST00000332822.4	+	1	811	c.286delG	c.(286-288)gggfs	p.G97fs		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	97					axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					gggTGCAGCTGGGGGCGCGGA	0.741																																																	0													7.0	10.0	9.0					17																	54671870		2134	4145	6279	SO:0001589	frameshift_variant	0			U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"""synostoses (multiple) syndrome 1"", ""symphalangism 1 (proximal)"""	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.286delG	17.37:g.54671870delG	ENSP00000328181:p.Gly97fs			Frame_Shift_Del	DEL	pfam_Noggin,pirsf_Noggin	p.G97fs	ENST00000332822.4	37	c.286	CCDS11589.1	17																																																																																			NOG	-	pfam_Noggin,pirsf_Noggin	ENSG00000183691		0.741	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOG	HGNC	protein_coding	OTTHUMT00000323857.1		0.00	19	0	G	NM_005450		54671870	+1	tier1		no_errors	ENST00000332822	ensembl	human	known	74_37	frame_shift_del	42.86	12	9	DEL	0.630	-
NOL6	65083	genome.wustl.edu	37	9	33465269	33465269	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:33465269C>A	ENST00000379471.2	-	20	2704	c.2617G>T	c.(2617-2619)Gat>Tat	p.D873Y	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.D821Y			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	873					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGGCTCTCATCAGCGAAACCC	0.607																																																	0													37.0	28.0	32.0					9																	33465269		2202	4299	6501	SO:0001583	missense	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2617G>T	9.37:g.33465269C>A	ENSP00000368784:p.Asp873Tyr		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.D873Y	ENST00000379471.2	37	c.2617		9	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544724	0.65198	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.51325	0.71;0.71;0.71	5.55	4.65	0.58169	.	0.096735	0.64402	D	0.000001	T	0.64405	0.2595	M	0.67397	2.05	0.58432	D	0.999999	P;P;D;P	0.54047	0.93;0.913;0.964;0.93	P;P;P;P	0.62089	0.898;0.837;0.823;0.898	T	0.68416	-0.5414	10	0.72032	D	0.01	.	14.6338	0.68676	0.0:0.9292:0.0:0.0708	.	821;870;873;873	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	Y	873;873;429;873;821	ENSP00000297990:D873Y;ENSP00000368784:D873Y;ENSP00000395915:D821Y	ENSP00000297990:D873Y	D	-	1	0	NOL6	33455269	1.000000	0.71417	0.159000	0.22649	0.643000	0.38383	5.727000	0.68523	1.345000	0.45676	0.462000	0.41574	GAT	NOL6	-	pfam_Nrap	ENSG00000165271		0.607	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	-	0.00	62	0	C	NM_022917		33465269	-1	tier1	-	no_errors	ENST00000297990	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.994	A
NOL8	55035	genome.wustl.edu	37	9	95077338	95077338	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:95077338G>A	ENST00000535387.1	-	6	1568	c.1569C>T	c.(1567-1569)tcC>tcT	p.S523S	NOL8_ENST00000442668.2_Silent_p.S523S|NOL8_ENST00000358855.4_Silent_p.S455S|NOL8_ENST00000542053.1_Silent_p.S455S|NOL8_ENST00000545558.1_Silent_p.S523S					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGGGGCTCTTGGAGCCTCTGT	0.517																																																	0													93.0	87.0	89.0					9																	95077338		1852	4104	5956	SO:0001819	synonymous_variant	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1569C>T	9.37:g.95077338G>A				Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S523	ENST00000535387.1	37	c.1569	CCDS47993.1	9																																																																																			NOL8	-	NULL	ENSG00000198000		0.517	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	-	0.00	72	0	G	NM_017948		95077338	-1	tier1	-	no_errors	ENST00000442668	ensembl	human	known	74_37	silent	29.03	44	18	SNP	0.000	A
NOP56	10528	genome.wustl.edu	37	20	2637737	2637737	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:2637737C>T	ENST00000329276.5	+	11	1808	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORA51_ENST00000606420.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	431					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GCAGAGGAAGCGGCTGCTGAG	0.478																																																	0													64.0	66.0	65.0					20																	2637737		2203	4300	6503	SO:0001583	missense	0			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1292C>T	20.37:g.2637737C>T	ENSP00000370589:p.Ala431Val		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.A431V	ENST00000329276.5	37	c.1292	CCDS13030.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.35|14.35	2.509585|2.509585	0.44660|0.44660	.|.	.|.	ENSG00000101361|ENSG00000101361	ENST00000329276;ENST00000381169|ENST00000415272	T|.	0.40476|.	1.03|.	5.71|5.71	3.4|3.4	0.38934|0.38934	.|.	0.166560|.	0.52532|.	N|.	0.000061|.	T|T	0.21631|0.21631	0.0521|0.0521	N|N	0.03050|0.03050	-0.425|-0.425	0.43168|0.43168	D|D	0.994969|0.994969	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.06405|.	0.0;0.002|.	T|T	0.05903|0.05903	-1.0857|-1.0857	10|5	0.25106|.	T|.	0.35|.	-14.3029|-14.3029	6.5558|6.5558	0.22460|0.22460	0.0:0.7605:0.0:0.2395|0.0:0.7605:0.0:0.2395	.|.	178;431|.	E9PDI8;O00567|.	.;NOP56_HUMAN|.	V|W	431;178|172	ENSP00000370589:A431V|.	ENSP00000370589:A431V|.	A|R	+|+	2|1	0|2	NOP56|NOP56	2585737|2585737	1.000000|1.000000	0.71417|0.71417	0.804000|0.804000	0.32291|0.32291	0.993000|0.993000	0.82548|0.82548	3.623000|3.623000	0.54224|0.54224	1.549000|1.549000	0.49425|0.49425	0.650000|0.650000	0.86243|0.86243	GCG|CGG	NOP56	-	NULL	ENSG00000101361		0.478	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	HGNC	protein_coding	OTTHUMT00000077631.2	-	0.00	40	0	C	NM_006392		2637737	+1	tier1	-	no_errors	ENST00000329276	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.906	T
NOP9	161424	genome.wustl.edu	37	14	24774255	24774255	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:24774255C>T	ENST00000267425.3	+	10	1958	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	622							poly(A) RNA binding (GO:0044822)										CAGCAGGGTGCGGTGGCCAAG	0.572																																																	0													47.0	43.0	44.0					14																	24774255		2203	4300	6503	SO:0001583	missense	0				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1865C>T	14.37:g.24774255C>T	ENSP00000267425:p.Ala622Val		A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.A622V	ENST00000267425.3	37	c.1865	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563101	0.65538	.	.	ENSG00000196943	ENST00000267425;ENST00000544934	T	0.33654	1.4	5.75	4.86	0.63082	.	0.251124	0.38326	N	0.001740	T	0.21227	0.0511	N	0.19112	0.55	0.80722	D	1	B	0.33739	0.422	B	0.22753	0.041	T	0.05273	-1.0895	10	0.38643	T	0.18	-1.7554	11.8566	0.52441	0.0:0.9183:0.0:0.0817	.	622	Q86U38	CN021_HUMAN	V	622;173	ENSP00000267425:A622V	ENSP00000267425:A622V	A	+	2	0	C14orf21	23844095	0.979000	0.34478	0.321000	0.25320	0.995000	0.86356	2.780000	0.47742	1.436000	0.47453	0.655000	0.94253	GCG	NOP9	-	NULL	ENSG00000196943		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	-	0.00	74	0	C			24774255	+1	tier1	-	no_errors	ENST00000267425	ensembl	human	known	74_37	missense	16.44	61	12	SNP	0.901	T
NOS1	4842	genome.wustl.edu	37	12	117655961	117655961	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:117655961G>A	ENST00000338101.4	-	28	4285	c.4281C>T	c.(4279-4281)aaC>aaT	p.N1427N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.N1393N			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CATGGTATCGGTTGTCATCCT	0.468																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													264.0	255.0	258.0					12																	117655961		1921	4141	6062	SO:0001819	synonymous_variant	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4281C>T	12.37:g.117655961G>A				Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.N1393	ENST00000338101.4	37	c.4179	CCDS55890.1	12																																																																																			NOS1	-	pirsf_NOS_euk	ENSG00000089250		0.468	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0.00	32	0	G			117655961	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	silent	13.79	25	4	SNP	1.000	A
NOS1	4842	genome.wustl.edu	37	12	117703196	117703196	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:117703196delG	ENST00000338101.4	-	11	2065	c.2061delC	c.(2059-2061)cccfs	p.P687fs	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Frame_Shift_Del_p.P687fs			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTCCGGACATGGGGGGCACGA	0.602																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													33.0	36.0	35.0					12																	117703196		2118	4266	6384	SO:0001589	frameshift_variant	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2061delC	12.37:g.117703196delG	ENSP00000337459:p.Pro687fs			Frame_Shift_Del	DEL	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.M688fs	ENST00000338101.4	37	c.2061	CCDS55890.1	12																																																																																			NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000089250		0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1		0.00	45	0	G			117703196	-1	tier1		no_errors	ENST00000317775	ensembl	human	known	74_37	frame_shift_del	23.81	32	10	DEL	1.000	-
NOS3	4846	genome.wustl.edu	37	7	150693865	150693865	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:150693865C>T	ENST00000484524.1	+	4	434	c.434C>T	c.(433-435)gCc>gTc	p.A145V	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Missense_Mutation_p.A145V|NOS3_ENST00000467517.1_Missense_Mutation_p.A145V	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTCCCAGGCCCACGAACAG	0.652																																																	0													13.0	15.0	14.0					7																	150693865		2154	4230	6384	SO:0001583	missense	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.434C>T	7.37:g.150693865C>T	ENSP00000420215:p.Ala145Val		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.A145V	ENST00000484524.1	37	c.434	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.376505	0.95945	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.26373	1.74;1.74;1.74	5.13	5.13	0.70059	Nitric oxide synthase, oxygenase domain (3);	0.104705	0.41396	D	0.000882	T	0.37571	0.1008	M	0.77616	2.38	0.52501	D	0.999953	B;B;P;P	0.50066	0.241;0.241;0.931;0.836	B;B;P;B	0.44897	0.092;0.092;0.463;0.142	T	0.43458	-0.9390	10	0.66056	D	0.02	-8.0936	16.0971	0.81132	0.0:1.0:0.0:0.0	.	145;145;145;145	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	V	145	ENSP00000297494:A145V;ENSP00000420215:A145V;ENSP00000420551:A145V	ENSP00000297494:A145V	A	+	2	0	NOS3	150324798	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.945000	0.63568	2.388000	0.81334	0.478000	0.44815	GCC	NOS3	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000164867		0.652	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	-	0.00	25	0	C	NM_000603		150693865	+1	tier1	-	no_errors	ENST00000297494	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T
NOSIP	51070	genome.wustl.edu	37	19	50059641	50059641	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50059641C>T	ENST00000596358.1	-	8	825	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	NOSIP_ENST00000339093.3_Missense_Mutation_p.R259Q|NOSIP_ENST00000391853.3_Missense_Mutation_p.R256Q	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	256					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CATGTCCTTCCGAATCAGCTT	0.622																																																	0													110.0	84.0	93.0					19																	50059641		2203	4300	6503	SO:0001583	missense	0			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.767G>A	19.37:g.50059641C>T	ENSP00000470034:p.Arg256Gln		Q96FD2	Missense_Mutation	SNP	pirsf_Nitric_oxide_synth-interacting	p.R256Q	ENST00000596358.1	37	c.767	CCDS12772.1	19	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072302	0.76415	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T	0.76578	-1.03	5.15	4.12	0.48240	Zinc finger, RING/FYVE/PHD-type (1);	0.147912	0.44097	D	0.000481	T	0.70745	0.3259	M	0.70595	2.14	0.38554	D	0.949537	P	0.48503	0.911	B	0.36922	0.236	T	0.74166	-0.3753	10	0.59425	D	0.04	-18.9981	7.158	0.25649	0.0:0.737:0.0:0.263	.	256	Q9Y314	NOSIP_HUMAN	Q	256	ENSP00000375726:R256Q	ENSP00000343497:R256Q	R	-	2	0	NOSIP	54751453	0.687000	0.27671	1.000000	0.80357	0.972000	0.66771	0.783000	0.26802	1.182000	0.42928	0.462000	0.41574	CGG	NOSIP	-	pirsf_Nitric_oxide_synth-interacting	ENSG00000142546		0.622	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOSIP	HGNC	protein_coding	OTTHUMT00000465423.1	-	0.00	51	0	C			50059641	-1	tier1	-	no_errors	ENST00000391853	ensembl	human	known	74_37	missense	32.56	29	14	SNP	1.000	T
NPAS3	64067	genome.wustl.edu	37	14	34269189	34269189	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:34269189G>A	ENST00000356141.4	+	12	1676	c.1676G>A	c.(1675-1677)cGc>cAc	p.R559H	NPAS3_ENST00000346562.2_Missense_Mutation_p.R527H|NPAS3_ENST00000357798.5_Missense_Mutation_p.R546H|NPAS3_ENST00000548645.1_Missense_Mutation_p.R529H|NPAS3_ENST00000551492.1_Missense_Mutation_p.R564H			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	559					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAGGTGGAGCGCTACGTGGAG	0.672																																																	0													42.0	42.0	42.0					14																	34269189		2203	4300	6503	SO:0001583	missense	0			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1676G>A	14.37:g.34269189G>A	ENSP00000348460:p.Arg559His		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.R559H	ENST00000356141.4	37	c.1676	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439306	0.83885	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.72051	-0.62;3.37;3.37;3.37;3.37;3.23	5.19	5.19	0.71726	.	0.056076	0.64402	D	0.000001	T	0.54647	0.1871	N	0.08118	0	0.80722	D	1	B;B;B;B	0.14012	0.009;0.005;0.009;0.009	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.51803	-0.8659	10	0.49607	T	0.09	.	18.6933	0.91592	0.0:0.0:1.0:0.0	.	529;559;527;546	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	H	533;564;527;529;559;546	ENSP00000448373:R533H;ENSP00000450392:R564H;ENSP00000319610:R527H;ENSP00000448916:R529H;ENSP00000348460:R559H;ENSP00000350446:R546H	ENSP00000319610:R527H	R	+	2	0	NPAS3	33338940	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.301000	0.72782	2.391000	0.81399	0.555000	0.69702	CGC	NPAS3	-	NULL	ENSG00000151322		0.672	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	-	0.00	63	0	G			34269189	+1	tier1	-	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	A
NPBWR1	2831	genome.wustl.edu	37	8	53852507	53852507	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:53852507G>A	ENST00000331251.3	+	1	1517	c.40G>A	c.(40-42)Gca>Aca	p.A14T		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	14					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCCGCCAACGCATCGGGCCC	0.706																																																	0													8.0	10.0	10.0					8																	53852507		2160	4241	6401	SO:0001583	missense	0			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.40G>A	8.37:g.53852507G>A	ENSP00000330284:p.Ala14Thr		Q6NTC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.A14T	ENST00000331251.3	37	c.40	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649813	0.29336	.	.	ENSG00000183729	ENST00000331251	T	0.37411	1.2	4.19	-0.13	0.13498	.	119.677000	0.00982	U	0.003398	T	0.18341	0.0440	N	0.08118	0	0.09310	N	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.12142	-1.0559	10	0.15066	T	0.55	.	4.6797	0.12729	0.2826:0.0:0.4821:0.2353	.	14	P48145	NPBW1_HUMAN	T	14	ENSP00000330284:A14T	ENSP00000330284:A14T	A	+	1	0	NPBWR1	54015060	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	-0.120000	0.10660	0.045000	0.15804	0.650000	0.86243	GCA	NPBWR1	-	NULL	ENSG00000183729		0.706	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	-	0.00	60	0	G	NM_005285		53852507	+1	tier1	-	no_errors	ENST00000331251	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.546	A
NPIPA1	9284	genome.wustl.edu	37	16	15018428	15018428	+	3'UTR	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:15018428G>A	ENST00000472413.1	+	0	723				RP11-958N24.1_ENST00000537889.1_RNA			Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1						mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											AGTCCTTCCCGGTTCCAGACC	0.667																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000472413.1:c.*720G>A	16.37:g.15018428G>A			O15102	RNA	SNP	-	NULL	ENST00000472413.1	37	NULL		16																																																																																			NPIPA1	-	-	ENSG00000183426		0.667	NPIPA1-002	KNOWN	basic|readthrough_transcript	processed_transcript	NPIPA1	HGNC	protein_coding	OTTHUMT00000207327.1	-	0.00	287	0	G	NM_006985		15018428	+1	tier1	-	no_errors	ENST00000472413	ensembl	human	known	74_37	rna	10.42	231	27	SNP	0.646	A
NPIPB11	728888	genome.wustl.edu	37	16	29394630	29394630	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:29394630A>G	ENST00000524087.1	-	8	1697	c.1623T>C	c.(1621-1623)acT>acC	p.T541T	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	541	Pro-rich.					integral component of membrane (GO:0016021)											GATGCTCGGCAGTTGTCTTGA	0.572																																																	0																																										SO:0001819	synonymous_variant	0					16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.1623T>C	16.37:g.29394630A>G				Silent	SNP	NULL	p.T541	ENST00000524087.1	37	c.1623		16																																																																																			NPIPB11	-	NULL	ENSG00000254206		0.572	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NPIPB11	HGNC	protein_coding	OTTHUMT00000374094.1	-	0.00	76	0	A	XM_002343430		29394630	-1	tier1	-	no_errors	ENST00000524087	ensembl	human	putative	74_37	silent	11.54	46	6	SNP	0.000	G
NPPC	4880	genome.wustl.edu	37	2	232790897	232790897	+	Silent	SNP	G	G	A	rs369493939		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:232790897G>A	ENST00000409852.1	-	1	216	c.63C>T	c.(61-63)tcC>tcT	p.S21S	NPPC_ENST00000295440.2_Silent_p.S21S	NM_024409.2	NP_077720.1	P23582	ANFC_HUMAN	natriuretic peptide C	21					cGMP biosynthetic process (GO:0006182)|growth plate cartilage chondrocyte differentiation (GO:0003418)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of vasodilation (GO:0045909)|post-embryonic development (GO:0009791)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood vessel size (GO:0050880)|regulation of cAMP metabolic process (GO:0030814)|regulation of cGMP metabolic process (GO:0030823)|regulation of multicellular organism growth (GO:0040014)|regulation of smooth muscle cell proliferation (GO:0048660)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|single organism reproductive process (GO:0044702)	extracellular space (GO:0005615)|secretory granule (GO:0030141)	receptor binding (GO:0005102)						all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)		GCTTGGCTTCGGAGGGCCGGA	0.741																																																	0													8.0	11.0	10.0					2																	232790897		2078	4132	6210	SO:0001819	synonymous_variant	0				CCDS2489.1	2q37.1	2014-01-30	2010-11-09		ENSG00000163273	ENSG00000163273		"""Endogenous ligands"""	7941	protein-coding gene	gene with protein product		600296	"""natriuretic peptide precursor C"""			7698765, 8330189	Standard	NM_024409		Approved	CNP	uc002vsl.2	P23582	OTTHUMG00000133232	ENST00000409852.1:c.63C>T	2.37:g.232790897G>A			Q4ZG41	Silent	SNP	pfam_Natr_peptide,smart_Natr_peptide,prints_C_natriurtcpep,prints_Natriuretic_peptide_brain,prints_Natr_peptide,prints_Natriuretic_peptide_atrial	p.S21	ENST00000409852.1	37	c.63	CCDS2489.1	2																																																																																			NPPC	-	prints_Natriuretic_peptide_brain	ENSG00000163273		0.741	NPPC-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NPPC	HGNC	protein_coding	OTTHUMT00000331011.1	-	0.00	25	0	G	NM_024409		232790897	-1	tier1	-	no_errors	ENST00000295440	ensembl	human	known	74_37	silent	37.50	15	9	SNP	0.990	A
NPW	283869	genome.wustl.edu	37	16	2070538	2070538	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2070538T>C	ENST00000566435.1	+	2	773	c.260T>C	c.(259-261)cTt>cCt	p.L87P	NPW_ENST00000329610.4_Missense_Mutation_p.L139P			Q8N729	NPW_HUMAN	neuropeptide W	139					feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				kidney(1)	1						CGTTAGAGACTTCGGAGAGAC	0.706																																																	0													16.0	22.0	20.0					16																	2070538		1940	4122	6062	SO:0001583	missense	0			AB084276	CCDS42102.1	16p13.3	2013-02-26			ENSG00000183971	ENSG00000183971		"""Endogenous ligands"""	30509	protein-coding gene	gene with protein product	"""prepro-neuropeptide W"""	607997				12118011, 12401809	Standard	NM_001099456		Approved	PPL8	uc002coh.4	Q8N729	OTTHUMG00000176914	ENST00000566435.1:c.260T>C	16.37:g.2070538T>C	ENSP00000456974:p.Leu87Pro			Missense_Mutation	SNP	prints_Neuropept_W_pre,prints_Neuropept_BW_pre	p.L139P	ENST00000566435.1	37	c.416		16	.	.	.	.	.	.	.	.	.	.	t	13.43	2.236007	0.39498	.	.	ENSG00000183971	ENST00000329610	T	0.56275	0.47	2.35	1.24	0.21308	.	0.582632	0.15801	N	0.243924	T	0.27731	0.0682	N	0.08118	0	0.38082	D	0.936698	B	0.27013	0.166	B	0.27796	0.083	T	0.11275	-1.0594	10	0.87932	D	0	.	4.06	0.09834	0.0:0.1789:0.0:0.8211	.	139	Q8N729	NPW_HUMAN	P	139	ENSP00000330070:L139P	ENSP00000330070:L139P	L	+	2	0	NPW	2010539	0.090000	0.21635	0.194000	0.23346	0.015000	0.08874	0.610000	0.24253	0.344000	0.23847	0.334000	0.21626	CTT	NPW	-	NULL	ENSG00000183971		0.706	NPW-001	KNOWN	basic|appris_principal	protein_coding	NPW	HGNC	protein_coding	OTTHUMT00000434312.1	-	0.00	25	0	T	NM_001099456		2070538	+1	tier1	-	no_errors	ENST00000329610	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.693	C
NR1H3	10062	genome.wustl.edu	37	11	47280983	47280983	+	Intron	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:47280983T>C	ENST00000467728.1	+	1	1281				NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000481889.2_Intron|NR1H3_ENST00000407404.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3						apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|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 receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TTCCAGTGCCTGGCCCTTGCA	0.562											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.43+173T>C	11.37:g.47280983T>C		945	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	NULL	p.W39R	ENST00000467728.1	37	c.115	CCDS7929.1	11																																																																																			NR1H3	-	NULL	ENSG00000025434		0.562	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	-	0.00	54	0	T			47280983	+1	tier1	-	no_errors	ENST00000419652	ensembl	human	known	74_37	missense	29.17	34	14	SNP	0.000	C
NRARP	441478	genome.wustl.edu	37	9	140196214	140196214	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:140196214T>C	ENST00000356628.2	-	1	489	c.167A>G	c.(166-168)cAc>cGc	p.H56R		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	56					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		GACCGACTGGTGCAGCGCCGT	0.657																																																	0													46.0	36.0	40.0					9																	140196214		2202	4298	6500	SO:0001583	missense	0				CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"""Ankyrin repeat domain containing"""	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.167A>G	9.37:g.140196214T>C	ENSP00000349041:p.His56Arg		B8A4K5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H56R	ENST00000356628.2	37	c.167	CCDS35188.1	9	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145047	0.57044	.	.	ENSG00000198435	ENST00000356628	T	0.71341	-0.56	3.57	3.57	0.40892	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	D	0.82595	0.5071	H	0.95260	3.645	0.53005	D	0.999969	P	0.52061	0.95	P	0.51516	0.672	D	0.85881	0.1422	10	0.56958	D	0.05	.	10.1757	0.42937	0.0:0.0:0.0:1.0	.	56	Q7Z6K4	NRARP_HUMAN	R	56	ENSP00000349041:H56R	ENSP00000349041:H56R	H	-	2	0	NRARP	139316035	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	1.364000	0.34171	1.517000	0.48917	0.439000	0.28862	CAC	NRARP	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000198435		0.657	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRARP	HGNC	protein_coding	OTTHUMT00000343196.1	-	0.00	40	0	T	NM_001004354		140196214	-1	tier1	-	no_errors	ENST00000356628	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	C
NRROS	375387	genome.wustl.edu	37	3	196386809	196386809	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:196386809G>A	ENST00000328557.4	+	3	498	c.295G>A	c.(295-297)Ggc>Agc	p.G99S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	99					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CATCAGCCGCGGCGCCTTCCA	0.652																																																	0													43.0	41.0	42.0					3																	196386809		2203	4300	6503	SO:0001583	missense	0			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.295G>A	3.37:g.196386809G>A	ENSP00000328625:p.Gly99Ser			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G99S	ENST00000328557.4	37	c.295	CCDS3319.1	3	.	.	.	.	.	.	.	.	.	.	G	9.481	1.098227	0.20552	.	.	ENSG00000174004	ENST00000328557	T	0.00864	5.6	6.07	-1.61	0.08399	.	1.039030	0.07470	N	0.902146	T	0.01156	0.0038	M	0.72576	2.205	0.09310	N	1	P	0.37663	0.604	B	0.32465	0.146	T	0.47995	-0.9073	10	0.12430	T	0.62	.	5.9354	0.19163	0.1255:0.3283:0.4504:0.0958	.	99	Q86YC3	LRC33_HUMAN	S	99	ENSP00000328625:G99S	ENSP00000328625:G99S	G	+	1	0	LRRC33	197871206	0.001000	0.12720	0.000000	0.03702	0.506000	0.33950	1.270000	0.33086	-0.198000	0.10333	0.655000	0.94253	GGC	NRROS	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000174004		0.652	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRROS	HGNC	protein_coding	OTTHUMT00000340676.1	-	0.00	70	0	G	NM_198565		196386809	+1	tier1	-	no_errors	ENST00000328557	ensembl	human	known	74_37	missense	9.38	58	6	SNP	0.000	A
NRROS	375387	genome.wustl.edu	37	3	196386875	196386875	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:196386875T>C	ENST00000328557.4	+	3	564	c.361T>C	c.(361-363)Tac>Cac	p.Y121H		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	121					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTCAGAGAACTACGAAGAGAC	0.672																																																	0													26.0	28.0	27.0					3																	196386875		2203	4300	6503	SO:0001583	missense	0			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.361T>C	3.37:g.196386875T>C	ENSP00000328625:p.Tyr121His			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Y121H	ENST00000328557.4	37	c.361	CCDS3319.1	3	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258680	0.23051	.	.	ENSG00000174004	ENST00000328557	T	0.00949	5.51	6.07	2.26	0.28386	.	0.403283	0.28296	N	0.015879	T	0.00875	0.0029	L	0.39020	1.185	0.80722	D	1	B	0.14012	0.009	B	0.11329	0.006	T	0.58020	-0.7710	10	0.17832	T	0.49	.	6.8154	0.23826	0.0:0.1326:0.128:0.7394	.	121	Q86YC3	LRC33_HUMAN	H	121	ENSP00000328625:Y121H	ENSP00000328625:Y121H	Y	+	1	0	LRRC33	197871272	1.000000	0.71417	0.986000	0.45419	0.027000	0.11550	2.135000	0.42112	0.549000	0.28973	-0.250000	0.11733	TAC	NRROS	-	NULL	ENSG00000174004		0.672	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRROS	HGNC	protein_coding	OTTHUMT00000340676.1	-	0.00	70	0	T	NM_198565		196386875	+1	tier1	-	no_errors	ENST00000328557	ensembl	human	known	74_37	missense	27.59	42	16	SNP	0.895	C
NRXN1	9378	genome.wustl.edu	37	2	50574009	50574011	+	Intron	DEL	CGC	CGC	-	rs113067443|rs532881721		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:50574009_50574011delCGC	ENST00000406316.2	-	18	4841				NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000342183.5_In_Frame_Del_p.G26del|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000401710.1_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGCCCCCCTGcgccgccgccgcc	0.768																																																	0																																										SO:0001627	intron_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3365-109901GCG>-	2.37:g.50574018_50574020delCGC			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	In_Frame_Del	DEL	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G	p.G26in_frame_del	ENST00000406316.2	37	c.79_77	CCDS54360.1	2																																																																																			NRXN1	-	NULL	ENSG00000179915		0.768	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2		0.00	14	0	CGC			50574011	-1	tier1		no_errors	ENST00000342183	ensembl	human	known	74_37	in_frame_del	23.81	16	5	DEL	0.998:0.997:0.996	-
NSUN7	79730	genome.wustl.edu	37	4	40810420	40810420	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:40810420C>T	ENST00000381782.2	+	12	2116	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W	NSUN7_ENST00000316607.5_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	541							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.R541W(1)		NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATCATCAAAACGGGAGAAGAA	0.448																																																	1	Substitution - Missense(1)	endometrium(1)											89.0	74.0	78.0					4																	40810420		692	1591	2283	SO:0001583	missense	0			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1621C>T	4.37:g.40810420C>T	ENSP00000371201:p.Arg541Trp		C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p	p.R541W	ENST00000381782.2	37	c.1621	CCDS3461.2	4	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705929	0.68615	.	.	ENSG00000179299	ENST00000381782	T	0.05025	3.51	5.07	0.793	0.18632	.	0.356115	0.23766	N	0.044762	T	0.16214	0.0390	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	T	0.00593	-1.1654	10	0.72032	D	0.01	-6.2504	9.0805	0.36550	0.5628:0.2348:0.2024:0.0	.	541	Q8NE18	NSUN7_HUMAN	W	541	ENSP00000371201:R541W	ENSP00000371201:R541W	R	+	1	2	NSUN7	40505177	0.962000	0.33011	0.854000	0.33618	0.977000	0.68977	0.040000	0.13905	0.250000	0.21479	0.591000	0.81541	CGG	NSUN7	-	NULL	ENSG00000179299		0.448	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN7	HGNC	protein_coding	OTTHUMT00000250454.2		0.00	68	0	C	NM_024677		40810420	+1			no_errors	ENST00000381782	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.948	T
NT5M	56953	genome.wustl.edu	37	17	17250123	17250123	+	Silent	SNP	C	C	T	rs142120102	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:17250123C>T	ENST00000389022.4	+	5	765	c.549C>T	c.(547-549)gcC>gcT	p.A183A	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	183					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CCACAGGGGCCGAGCCAACCC	0.677																																																	0								C		5,4401	9.9+/-24.2	0,5,2198	34.0	39.0	37.0		549	-9.4	0.7	17	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous	NT5M	NM_020201.3		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		183/229	17250123	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	0			AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"""5' nucleotidase, mitochondrial"""			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.549C>T	17.37:g.17250123C>T				Silent	SNP	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom	p.A183	ENST00000389022.4	37	c.549	CCDS32581.1	17																																																																																			NT5M	-	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom	ENSG00000205309		0.677	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5M	HGNC	protein_coding	OTTHUMT00000446045.1	-	0.00	86	0	C			17250123	+1	tier1	rs142120102	no_errors	ENST00000389022	ensembl	human	known	74_37	silent	12.70	55	8	SNP	0.038	T
TSC2	7249	genome.wustl.edu	37	16	2096132	2096133	+	5'Flank	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2096132_2096133insG	ENST00000219476.3	+	0	0				TSC2_ENST00000382538.6_5'Flank|NTHL1_ENST00000219066.1_Frame_Shift_Ins_p.P125fs|TSC2_ENST00000350773.4_5'Flank|TSC2_ENST00000568454.1_5'Flank|TSC2_ENST00000353929.4_5'Flank|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000401874.2_5'Flank|TSC2_ENST00000439673.2_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCCTACCTTTGGGGGGGCACT	0.579			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0																																										SO:0001631	upstream_gene_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096139_2096139dupG	Exception_encountered		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Frame_Shift_Ins	INS	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.V127fs	ENST00000219476.3	37	c.375_374	CCDS10458.1	16																																																																																			NTHL1	-	superfamily_DNA_glycosylase	ENSG00000065057		0.579	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTHL1	HGNC	protein_coding	OTTHUMT00000250657.2		0.00	53	0	-	NM_000548		2096133	-1	tier1		no_errors	ENST00000219066	ensembl	human	known	74_37	frame_shift_ins	15.79	32	6	INS	0.794:1.000	G
TSC2	7249	genome.wustl.edu	37	16	2096239	2096239	+	5'Flank	SNP	G	G	T	rs150766139	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2096239G>T	ENST00000219476.3	+	0	0				TSC2_ENST00000382538.6_5'Flank|NTHL1_ENST00000219066.1_Missense_Mutation_p.Q90K|TSC2_ENST00000350773.4_5'Flank|TSC2_ENST00000568454.1_5'Flank|TSC2_ENST00000353929.4_5'Flank|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000401874.2_5'Flank|TSC2_ENST00000439673.2_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCCAGTCCTGGGGCTCCCAG	0.602			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													102.0	95.0	97.0					16																	2096239		2198	4300	6498	SO:0001631	upstream_gene_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096239G>T	Exception_encountered		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.Q90K	ENST00000219476.3	37	c.268	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	G	8.358	0.832437	0.16820	.	.	ENSG00000065057	ENST00000219066	T	0.12984	2.63	4.83	4.83	0.62350	.	0.633028	0.16494	N	0.211949	T	0.06325	0.0163	N	0.11023	0.085	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37888	-0.9686	10	0.07990	T	0.79	-4.825	8.5101	0.33213	0.0:0.1654:0.6639:0.1707	.	90;90	E5KTI5;P78549	.;NTHL1_HUMAN	K	90	ENSP00000219066:Q90K	ENSP00000219066:Q90K	Q	-	1	0	NTHL1	2036240	0.000000	0.05858	0.349000	0.25694	0.734000	0.41952	0.689000	0.25437	2.230000	0.72887	0.561000	0.74099	CAG	NTHL1	-	NULL	ENSG00000065057		0.602	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTHL1	HGNC	protein_coding	OTTHUMT00000250657.2	-	0.00	44	0	G	NM_000548		2096239	-1	tier1	-	no_errors	ENST00000219066	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.043	T
NTM	50863	genome.wustl.edu	37	11	131530983	131530984	+	Intron	INS	-	-	G	rs201898772|rs191109652	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:131530983_131530984insG	ENST00000374791.3	+	2	411				NTM_ENST00000539799.1_Intron|AP003039.3_ENST00000416725.1_lincRNA|NTM_ENST00000427481.2_Intron	NM_001048209.1	NP_001041674.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CACAGACTGGTGGGGGGGTCTT	0.49													?|GGGGGGG|GGGGGGGG|unsure	27	0.00539137	0.0197	0.0	5008	,	,		18316	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374791.3:c.83-250474->G	11.37:g.131530990_131530990dupG			A0MTT2|Q6UXJ3|Q86VJ9	RNA	INS	-	NULL	ENST00000374791.3	37	NULL	CCDS41733.1	11																																																																																			NTM	-	-	ENSG00000182667		0.490	NTM-002	KNOWN	basic|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141936.2		0.00	43	0	-	NM_016522		131530984	+1	tier1		no_errors	ENST00000477098	ensembl	human	putative	74_37	rna	29.03	22	9	INS	0.000:0.000	G
NTM	50863	genome.wustl.edu	37	11	132205624	132205626	+	3'UTR	DEL	TTT	TTT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:132205624_132205626delTTT	ENST00000374786.1	+	0	2098_2100				NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ACCGTTAAACTTTTTTTTTTTTT	0.291																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*586TTT>-	11.37:g.132205633_132205635delTTT			A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.291	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1		0.00	19	0	TTT	NM_016522		132205626	+1	tier1		no_errors	ENST00000474900	ensembl	human	known	74_37	rna	25.00	15	5	DEL	0.000:0.011:0.009	-
NUGGC	389643	genome.wustl.edu	37	8	27903090	27903090	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:27903090C>T	ENST00000413272.2	-	12	1542	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	NUGGC_ENST00000341513.6_Missense_Mutation_p.G467D	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	467					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GAGCAACAGGCCAAAGGCTTC	0.473																																																	0													154.0	157.0	156.0					8																	27903090		1927	4129	6056	SO:0001583	missense	0			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1400G>A	8.37:g.27903090C>T	ENSP00000408697:p.Gly467Asp		Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.G467D	ENST00000413272.2	37	c.1400	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176614	0.78564	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.15834	2.39;2.39	5.32	5.32	0.75619	.	0.122293	0.53938	D	0.000051	T	0.29288	0.0729	L	0.32530	0.975	0.48452	D	0.999656	D	0.76494	0.999	D	0.66716	0.946	T	0.00945	-1.1505	10	0.44086	T	0.13	-19.6601	14.51	0.67780	0.0:1.0:0.0:0.0	.	467	Q68CJ6	SLIP_HUMAN	D	467	ENSP00000408697:G467D;ENSP00000345031:G467D	ENSP00000345031:G467D	G	-	2	0	C8orf80	27959009	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.368000	0.44222	2.469000	0.83416	0.655000	0.94253	GGC	NUGGC	-	NULL	ENSG00000189233		0.473	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	-	0.00	73	0	C	NM_001010906		27903090	-1	tier1	-	no_errors	ENST00000341513	ensembl	human	known	74_37	missense	11.54	92	12	SNP	0.998	T
NUMBL	9253	genome.wustl.edu	37	19	41173520	41173520	+	Frame_Shift_Del	DEL	G	G	-	rs374888940		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:41173520delG	ENST00000252891.4	-	10	1850	c.1683delC	c.(1681-1683)cccfs	p.P561fs	NUMBL_ENST00000540131.1_Frame_Shift_Del_p.P520fs|NUMBL_ENST00000598779.1_Frame_Shift_Del_p.P520fs	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	561					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGGGGGCCAGGGGGCCCCAT	0.682																																																	0													4.0	5.0	5.0					19																	41173520		2073	4062	6135	SO:0001589	frameshift_variant	0			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1683delC	19.37:g.41173520delG	ENSP00000252891:p.Pro561fs		Q7Z4J9	Frame_Shift_Del	DEL	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.W562fs	ENST00000252891.4	37	c.1683	CCDS12561.1	19																																																																																			NUMBL	-	pirsf_Numb/numb-like	ENSG00000105245		0.682	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	HGNC	protein_coding	OTTHUMT00000462749.2		0.00	15	0	G	NM_004756		41173520	-1	tier1		no_errors	ENST00000252891	ensembl	human	known	74_37	frame_shift_del	23.08	10	3	DEL	0.596	-
NUP107	57122	genome.wustl.edu	37	12	69126366	69126366	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:69126366delA	ENST00000229179.4	+	23	2330				NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Intron|NUP107_ENST00000401003.3_3'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAATATCTTTAAAAAAAAAAC	0.284																																																	0										101,187,3890		5,0,91,9,169,1815						-4.4	0.0			11	121,370,7717		1,0,119,6,358,3620	no	intron	NUP107	NM_020401.2		6,0,210,15,527,5435	A1A1,A1A2,A1R,A2A2,A2R,RR		5.982,6.8933,6.2894				222,557,11607				SO:0001627	intron_variant	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1999-51A>-	12.37:g.69126366delA			B4DZ67|Q6PJE1	RNA	DEL	-	NULL	ENST00000229179.4	37	NULL	CCDS8985.1	12																																																																																			NUP107	-	-	ENSG00000111581		0.284	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1		0.00	34	0	A	NM_020401		69126366	+1	tier1		no_errors	ENST00000401003	ensembl	human	known	74_37	rna	12.77	41	6	DEL	0.000	-
NUP210	23225	genome.wustl.edu	37	3	13359206	13359206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:13359206C>T	ENST00000254508.5	-	40	5721	c.5639G>A	c.(5638-5640)tGg>tAg	p.W1880*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1880					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGCTGGGCTCCACAGCCCTGA	0.607																																																	0													61.0	59.0	60.0					3																	13359206		2201	4300	6501	SO:0001587	stop_gained	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5639G>A	3.37:g.13359206C>T	ENSP00000254508:p.Trp1880*		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Nonsense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.W1880*	ENST00000254508.5	37	c.5639	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	C	46	12.225875	0.99648	.	.	ENSG00000132182	ENST00000254508	.	.	.	5.51	5.51	0.81932	.	0.373056	0.26503	N	0.024008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5213	14.9163	0.70801	0.0:1.0:0.0:0.0	.	.	.	.	X	1880	.	ENSP00000254508:W1880X	W	-	2	0	NUP210	13334206	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.099000	0.57755	2.605000	0.88082	0.655000	0.94253	TGG	NUP210	-	NULL	ENSG00000132182		0.607	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0.00	44	0	C	NM_024923		13359206	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	nonsense	12.73	48	7	SNP	1.000	T
NUP210	23225	genome.wustl.edu	37	3	13417856	13417856	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:13417856G>A	ENST00000254508.5	-	10	1310	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	410					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCCCTGATGCGATGGTATGAC	0.577																																																	0													145.0	113.0	124.0					3																	13417856		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1228C>T	3.37:g.13417856G>A	ENSP00000254508:p.Arg410Cys		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.R410C	ENST00000254508.5	37	c.1228	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	G	9.601	1.128590	0.21041	.	.	ENSG00000132182	ENST00000254508	T	0.05513	3.43	5.31	4.44	0.53790	.	0.642470	0.17465	N	0.173306	T	0.09113	0.0225	L	0.36672	1.1	0.35199	D	0.774091	D;P	0.65815	0.995;0.611	P;B	0.50708	0.648;0.044	T	0.31943	-0.9925	10	0.40728	T	0.16	-3.349	8.7044	0.34345	0.2197:0.0:0.7803:0.0	.	410;410	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	C	410	ENSP00000254508:R410C	ENSP00000254508:R410C	R	-	1	0	NUP210	13392856	1.000000	0.71417	0.843000	0.33291	0.005000	0.04900	4.479000	0.60236	1.237000	0.43756	0.491000	0.48974	CGC	NUP210	-	NULL	ENSG00000132182		0.577	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0.00	67	0	G	NM_024923		13417856	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	20.00	48	12	SNP	0.995	A
NUP62	23636	genome.wustl.edu	37	19	50411539	50411539	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50411539C>A	ENST00000596217.1	-	2	3413	c.1526G>T	c.(1525-1527)cGg>cTg	p.R509L	NUP62_ENST00000413454.1_Missense_Mutation_p.R509L|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.R509L|NUP62_ENST00000597029.1_Missense_Mutation_p.R509L|NUP62_ENST00000422090.2_Missense_Mutation_p.R509L|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000597723.1_Missense_Mutation_p.R433L|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	509					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTCCTTGCGCCGGCCCTCGCA	0.632																																																	0													61.0	55.0	57.0					19																	50411539		2203	4300	6503	SO:0001583	missense	0			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1526G>T	19.37:g.50411539C>A	ENSP00000471191:p.Arg509Leu		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.R509L	ENST00000596217.1	37	c.1526	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331570	0.60853	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.37411	1.2;1.2;1.2	5.26	4.23	0.50019	Nucleoporin, NSP1-like, C-terminal (1);	0.090183	0.44902	U	0.000416	T	0.30293	0.0760	L	0.46947	1.48	0.54753	D	0.999981	P	0.40000	0.698	B	0.37198	0.243	T	0.05533	-1.0879	9	.	.	.	-8.2377	11.9739	0.53081	0.0:0.9146:0.0:0.0854	.	509	P37198	NUP62_HUMAN	L	509	ENSP00000305503:R509L;ENSP00000407331:R509L;ENSP00000387991:R509L	.	R	-	2	0	NUP62	55103351	0.988000	0.35896	0.287000	0.24848	0.975000	0.68041	2.626000	0.46460	1.374000	0.46228	0.655000	0.94253	CGG	NUP62	-	NULL	ENSG00000213024		0.632	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	-	0.00	26	0	C	NM_153719		50411539	-1	tier1	-	no_errors	ENST00000352066	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.958	A
NUP93	9688	genome.wustl.edu	37	16	56865798	56865798	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:56865798G>T	ENST00000308159.5	+	11	1251	c.1130G>T	c.(1129-1131)aGg>aTg	p.R377M	NUP93_ENST00000569842.1_Missense_Mutation_p.R377M|NUP93_ENST00000564887.1_Missense_Mutation_p.R254M|NUP93_ENST00000542526.1_Missense_Mutation_p.R254M	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	377					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CATTACCGTAGGGCCCTCAGG	0.488																																					Colon(33;610 796 1305 1705 38917)												0													100.0	89.0	93.0					16																	56865798		2198	4300	6498	SO:0001583	missense	0			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1130G>T	16.37:g.56865798G>T	ENSP00000310668:p.Arg377Met		B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.R377M	ENST00000308159.5	37	c.1130	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196334	0.78902	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.46451	0.87;0.87	5.93	4.97	0.65823	.	0.094388	0.64402	D	0.000001	T	0.62109	0.2401	M	0.77820	2.39	0.58432	D	0.999999	D	0.61080	0.989	P	0.60068	0.868	T	0.67806	-0.5575	10	0.66056	D	0.02	-19.1671	14.8454	0.70257	0.0:0.0:0.8561:0.1439	.	377	Q8N1F7	NUP93_HUMAN	M	377;254	ENSP00000310668:R377M;ENSP00000440235:R254M	ENSP00000310668:R377M	R	+	2	0	NUP93	55423299	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	9.813000	0.99286	1.509000	0.48786	-0.181000	0.13052	AGG	NUP93	-	pfam_Nucleoporin_int_Nup93/Nic96	ENSG00000102900		0.488	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	-	0.00	36	0	G	NM_014669		56865798	+1	tier1	-	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	T
NUTM2B	729262	genome.wustl.edu	37	10	81471989	81471989	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:81471989G>T	ENST00000429828.1	+	7	2768	c.2385G>T	c.(2383-2385)caG>caT	p.Q795H	RP11-119F19.2_ENST00000596088.1_RNA|RP11-119F19.2_ENST00000600376.1_RNA|NUTM2B_ENST00000448135.1_Intron|NUTM2B_ENST00000372321.1_Intron|RP11-119F19.2_ENST00000601369.1_RNA	NM_001278495.1	NP_001265424.1	A6NNL0	NTM2B_HUMAN	NUT family member 2B	795																	GGGGACCCCAGGGAACTCATC	0.602																																																	0																																										SO:0001583	missense	0				CCDS60574.1	10q22.3	2014-08-13	2013-03-14	2013-03-14	ENSG00000188199	ENSG00000188199			23445	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member B"""	FAM22B			Standard	NM_001278495		Approved	bA119F19.1		A6NNL0	OTTHUMG00000018572	ENST00000429828.1:c.2385G>T	10.37:g.81471989G>T	ENSP00000394623:p.Gln795His		A6NM73	Missense_Mutation	SNP	NULL	p.Q795H	ENST00000429828.1	37	c.2385		10	.	.	.	.	.	.	.	.	.	.	g	7.282	0.609223	0.14066	.	.	ENSG00000188199	ENST00000429828;ENST00000342531	T	0.12984	2.63	1.11	0.141	0.14811	.	2.460800	0.01739	N	0.029303	T	0.13329	0.0323	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24870	-1.0148	7	0.56958	D	0.05	.	3.9804	0.09492	0.2519:0.0:0.7481:0.0	.	.	.	.	H	795;538	ENSP00000394623:Q795H	ENSP00000344811:Q538H	Q	+	3	2	FAM22B	81141995	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.880000	0.04183	0.047000	0.15862	-2.092000	0.00371	CAG	NUTM2B	-	NULL	ENSG00000188199		0.602	NUTM2B-201	KNOWN	basic|appris_principal	protein_coding	NUTM2B	HGNC	protein_coding		-	0.00	135	0	G	NG_012780		81471989	+1	tier1	-	no_errors	ENST00000429828	ensembl	human	known	74_37	missense	16.67	99	20	SNP	0.000	T
NUTM2G	441457	genome.wustl.edu	37	9	99694528	99694528	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:99694528G>T	ENST00000372322.3	+	2	562	c.541G>T	c.(541-543)Ggg>Tgg	p.G181W	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Missense_Mutation_p.G181W	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	181																	ATGGCCACAAGGGGCTCATGG	0.657																																																	0													70.0	74.0	73.0					9																	99694528		1940	4112	6052	SO:0001583	missense	0				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.541G>T	9.37:g.99694528G>T	ENSP00000361397:p.Gly181Trp		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.G181W	ENST00000372322.3	37	c.541	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	9.935	1.215864	0.22373	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159;ENST00000375230	T;T	0.30714	1.52;1.52	1.03	-0.115	0.13560	.	1.255960	0.05333	N	0.528584	T	0.51652	0.1687	M	0.73962	2.25	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.28554	-1.0040	10	0.87932	D	0	.	3.9261	0.09263	0.0:0.0:0.5834:0.4166	.	181	Q5VZR2-2	.	W	181;181;181;62	ENSP00000346670:G181W;ENSP00000361397:G181W	ENSP00000346670:G181W	G	+	1	0	FAM22G	98734349	0.013000	0.17824	0.002000	0.10522	0.002000	0.02628	1.152000	0.31663	-0.019000	0.14055	0.479000	0.44913	GGG	NUTM2G	-	NULL	ENSG00000188152		0.657	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUTM2G	HGNC	protein_coding	OTTHUMT00000053291.2	-	0.00	376	0	G	NM_001170741		99694528	+1	tier1	-	no_errors	ENST00000372322	ensembl	human	known	74_37	missense	18.00	286	63	SNP	0.002	T
NWD1	284434	genome.wustl.edu	37	19	16910773	16910773	+	Missense_Mutation	SNP	G	G	A	rs150409927		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:16910773G>A	ENST00000552788.1	+	15	3536	c.3536G>A	c.(3535-3537)cGc>cAc	p.R1179H	CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000339803.6_Missense_Mutation_p.R1044H|NWD1_ENST00000524140.2_Missense_Mutation_p.R1179H|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Missense_Mutation_p.R973H|NWD1_ENST00000379808.3_Missense_Mutation_p.R1179H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1179							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGCTGGCCCGCGGCGGGGCT	0.622																																																	0								G	HIS/ARG	0,4406		0,0,2203	43.0	45.0	44.0		3536	-3.1	0.0	19	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	missense	NWD1	NM_001007525.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1179/1433	16910773	1,13005	2203	4300	6503	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3536G>A	19.37:g.16910773G>A	ENSP00000447224:p.Arg1179His		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1179H	ENST00000552788.1	37	c.3536		19	.	.	.	.	.	.	.	.	.	.	G	0.542	-0.853183	0.02630	0.0	1.16E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T	0.65364	-0.15;-0.15;2.24;1.56;2.24	4.63	-3.14	0.05250	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.406430	0.04435	N	0.369929	T	0.40473	0.1118	L	0.43152	1.355	0.09310	N	1	P;B;B	0.39940	0.696;0.001;0.001	B;B;B	0.29942	0.109;0.001;0.0	T	0.25950	-1.0117	10	0.15066	T	0.55	-10.3331	1.0577	0.01593	0.3308:0.2627:0.2725:0.134	.	1179;1179;1044	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	1044;1179;1179;973;1179;1044	ENSP00000428579:R1179H;ENSP00000369136:R1179H;ENSP00000428955:R973H;ENSP00000447224:R1179H;ENSP00000340159:R1044H	ENSP00000340159:R1044H	R	+	2	0	NWD1	16771773	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.044000	0.12023	-0.629000	0.05575	-0.818000	0.03119	CGC	NWD1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000188039		0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	-	0.00	37	0	G	NM_001007525		16910773	+1	tier1	rs150409927	no_errors	ENST00000379808	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.000	A
NXPE3	91775	genome.wustl.edu	37	3	101540493	101540493	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:101540493C>T	ENST00000491511.2	+	8	2331	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	NXPE3_ENST00000422132.1_Missense_Mutation_p.R459W|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000273347.5_Missense_Mutation_p.R459W|NXPE3_ENST00000477909.1_Missense_Mutation_p.R459W	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	459						extracellular region (GO:0005576)											GTACATCCGGCGGCTCAGGAA	0.577																																																	0													101.0	95.0	97.0					3																	101540493		2203	4300	6503	SO:0001583	missense	0			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1375C>T	3.37:g.101540493C>T	ENSP00000417485:p.Arg459Trp		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.R459W	ENST00000491511.2	37	c.1375	CCDS2945.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003081	0.74932	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	6.03	1.5	0.22942	.	0.050144	0.85682	N	0.000000	T	0.60547	0.2277	M	0.87180	2.865	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.71056	-0.4703	10	0.62326	D	0.03	-28.2574	17.6059	0.88037	0.7276:0.2724:0.0:0.0	.	459	Q969Y0	FA55C_HUMAN	W	459	ENSP00000273347:R459W;ENSP00000417485:R459W;ENSP00000418369:R459W;ENSP00000396421:R459W	ENSP00000273347:R459W	R	+	1	2	FAM55C	103023183	0.891000	0.30450	0.999000	0.59377	0.994000	0.84299	0.620000	0.24403	0.241000	0.21283	0.655000	0.94253	CGG	NXPE3	-	NULL	ENSG00000144815		0.577	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPE3	HGNC	protein_coding	OTTHUMT00000353711.2	-	0.00	49	0	C	NM_145037		101540493	+1	tier1	-	no_errors	ENST00000273347	ensembl	human	known	74_37	missense	22.73	33	10	SNP	0.997	T
NYAP2	57624	genome.wustl.edu	37	2	226446862	226446862	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:226446862C>T	ENST00000272907.6	+	4	1142	c.729C>T	c.(727-729)ccC>ccT	p.P243P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	243					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AAGAGGAGCCCGTGTACATCG	0.597																																																	0													110.0	117.0	115.0					2																	226446862		1939	4124	6063	SO:0001819	synonymous_variant	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.729C>T	2.37:g.226446862C>T			A2RRN4|Q96NL2	Silent	SNP	NULL	p.P243	ENST00000272907.6	37	c.729	CCDS46529.1	2																																																																																			NYAP2	-	NULL	ENSG00000144460		0.597	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	-	0.00	39	0	C	NM_020864		226446862	+1	tier1	-	no_errors	ENST00000272907	ensembl	human	known	74_37	silent	38.71	19	12	SNP	0.116	T
OBSCN	84033	genome.wustl.edu	37	1	228434261	228434261	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:228434261G>A	ENST00000422127.1	+	13	3834	c.3790G>A	c.(3790-3792)Gtg>Atg	p.V1264M	OBSCN_ENST00000284548.11_Missense_Mutation_p.V1264M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V1356M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1264	Ig-like 13.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCAGTTGGTGCATAATGA	0.587																																																	0													96.0	96.0	96.0					1																	228434261		2064	4189	6253	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3790G>A	1.37:g.228434261G>A	ENSP00000409493:p.Val1264Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V1264M	ENST00000422127.1	37	c.3790	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	5.136	0.210738	0.09757	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.65549	0.25;-0.16	4.84	1.25	0.21368	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.627943	0.14919	N	0.290750	T	0.69851	0.3157	M	0.71581	2.175	0.09310	N	0.999999	P;D	0.69078	0.697;0.997	B;P	0.59643	0.318;0.861	T	0.57854	-0.7739	10	0.46703	T	0.11	.	7.5697	0.27900	0.0771:0.1651:0.6468:0.111	.	1264;1264	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	1264	ENSP00000284548:V1264M;ENSP00000409493:V1264M	ENSP00000284548:V1264M	V	+	1	0	OBSCN	226500884	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.598000	0.24074	0.410000	0.25675	0.563000	0.77884	GTG	OBSCN	-	pfscan_Ig-like_dom	ENSG00000154358		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0.00	64	0	G	NM_052843		228434261	+1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.000	A
OBSL1	23363	genome.wustl.edu	37	2	220432509	220432509	+	Nonsense_Mutation	SNP	G	G	A	rs121918216		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:220432509G>A	ENST00000404537.1	-	3	1521	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	OBSL1_ENST00000265318.4_Nonsense_Mutation_p.R489*|OBSL1_ENST00000289656.3_Nonsense_Mutation_p.R76*|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Nonsense_Mutation_p.R489*|OBSL1_ENST00000603926.1_Nonsense_Mutation_p.R489*|OBSL1_ENST00000373873.4_Nonsense_Mutation_p.R489*	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	489					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCATCCTCTCGGGTGACCCCT	0.632																																																	0													51.0	58.0	56.0					2																	220432509		2153	4263	6416	SO:0001587	stop_gained	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1465C>T	2.37:g.220432509G>A	ENSP00000385636:p.Arg489*		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R489*	ENST00000404537.1	37	c.1465	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.850613	0.97885	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	.	.	.	4.55	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	13.7511	0.62908	0.0:0.0:0.8448:0.1552	.	.	.	.	X	489;489;489;489;76	.	ENSP00000265318:R489X	R	-	1	2	OBSL1	220140753	0.973000	0.33851	1.000000	0.80357	0.952000	0.60782	3.841000	0.55850	1.084000	0.41184	0.484000	0.47621	CGA	OBSL1	-	smart_Ig_sub	ENSG00000124006		0.632	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	-	0.00	84	0	G			220432509	-1	tier1	rs121918216	no_errors	ENST00000404537	ensembl	human	known	74_37	nonsense	15.15	56	10	SNP	0.998	A
OCA2	4948	genome.wustl.edu	37	15	28171296	28171297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:28171296_28171297insA	ENST00000354638.3	-	19	2210_2211	c.2055_2056insT	c.(2053-2058)tttgcafs	p.A686fs	OCA2_ENST00000353809.5_Frame_Shift_Ins_p.A662fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	686					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AAGAGCGCTGCAAAAAACAGAA	0.361									Oculocutaneous Albinism																																								0			GRCh37	CD051775|CI000292	OCA2	D|I																																				SO:0001589	frameshift_variant	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2056dupT	15.37:g.28171302_28171302dupA	ENSP00000346659:p.Ala686fs		Q15211|Q15212|Q96EN1|Q9UMI5	Frame_Shift_Ins	INS	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.A685fs	ENST00000354638.3	37	c.2056_2055	CCDS10020.1	15																																																																																			OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.361	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1		0.00	38	0	-	NM_000275		28171297	-1	tier1		no_errors	ENST00000354638	ensembl	human	known	74_37	frame_shift_ins	25.81	23	8	INS	1.000:1.000	A
OCIAD1	54940	genome.wustl.edu	37	4	48851983	48851983	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:48851983C>T	ENST00000381473.3	+	6	679	c.261C>T	c.(259-261)taC>taT	p.Y87Y	OCIAD1_ENST00000425583.2_Silent_p.Y87Y|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000513391.2_Silent_p.Y87Y|OCIAD1_ENST00000506801.1_Silent_p.Y33Y|OCIAD1_ENST00000444354.2_Silent_p.Y87Y|OCIAD1_ENST00000396448.2_Silent_p.Y87Y|OCIAD1_ENST00000264312.7_Silent_p.Y87Y|OCIAD1_ENST00000509122.1_Silent_p.Y60Y|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Silent_p.Y87Y	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	87	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TCATGGGATACTTTGCTGGAA	0.333																																																	0													59.0	65.0	63.0					4																	48851983		2203	4300	6503	SO:0001819	synonymous_variant	0			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.261C>T	4.37:g.48851983C>T			C9K030|G8JLN7|Q9BZE8	Silent	SNP	pfam_OCIA	p.Y87	ENST00000381473.3	37	c.261	CCDS3484.1	4																																																																																			OCIAD1	-	pfam_OCIA	ENSG00000109180		0.333	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3	-	0.00	72	0	C	NM_017830		48851983	+1	tier1	-	no_errors	ENST00000264312	ensembl	human	known	74_37	silent	28.17	51	20	SNP	1.000	T
OCM	654231	genome.wustl.edu	37	7	5922245	5922245	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:5922245A>G	ENST00000242104.5	+	2	275	c.183A>G	c.(181-183)gaA>gaG	p.E61E	OCM_ENST00000416608.1_Silent_p.E61E	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	61	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		ACCTGGATGAAGAAGAGCTTA	0.512																																																	0													128.0	103.0	111.0					7																	5922245		2203	4300	6503	SO:0001819	synonymous_variant	0			BC069468	CCDS43548.1	7p22.1	2013-01-10						"""EF-hand domain containing"""	8105	protein-coding gene	gene with protein product	"""oncomodulin 1"""	164795				1559707, 8354278	Standard	NM_001097622		Approved	OCM1	uc003spe.4	P0CE72		ENST00000242104.5:c.183A>G	7.37:g.5922245A>G			B9EJH7|P32930|Q6ISI5|Q75MW0	Silent	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.E61	ENST00000242104.5	37	c.183	CCDS43548.1	7																																																																																			OCM	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000122543		0.512	OCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCM	HGNC	protein_coding	OTTHUMT00000340372.1	-	0.00	118	0	A	NM_001097622		5922245	+1	tier1	-	no_errors	ENST00000242104	ensembl	human	known	74_37	silent	13.89	93	15	SNP	1.000	G
ODF1	4956	genome.wustl.edu	37	8	103572965	103572965	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:103572965C>T	ENST00000285402.3	+	2	762	c.606C>T	c.(604-606)tgC>tgT	p.C202C	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	202					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGTCTCCTTGCTACCCTTGCA	0.577																																																	0													103.0	77.0	86.0					8																	103572965		2203	4300	6503	SO:0001819	synonymous_variant	0			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.606C>T	8.37:g.103572965C>T			Q3SX72	Silent	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	p.C202	ENST00000285402.3	37	c.606	CCDS6293.1	8																																																																																			ODF1	-	pfscan_a-crystallin/Hsp20_dom	ENSG00000155087		0.577	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF1	HGNC	protein_coding	OTTHUMT00000379884.1	-	0.00	73	0	C			103572965	+1	tier1	-	no_errors	ENST00000285402	ensembl	human	known	74_37	silent	7.81	59	5	SNP	0.997	T
OGDHL	55753	genome.wustl.edu	37	10	50954894	50954894	+	Missense_Mutation	SNP	C	C	T	rs199864072		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:50954894C>T	ENST00000374103.4	-	10	1283	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	OGDHL_ENST00000419399.1_Missense_Mutation_p.A343T|OGDHL_ENST00000432695.1_Missense_Mutation_p.A191T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	400					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.A400T(3)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCAGCAAAGGCGGCGTCCCCA	0.632																																																	3	Substitution - Missense(3)	large_intestine(2)|endometrium(1)						C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	114.0	84.0	94.0		1027,571,1198	5.8	1.0	10		94	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	OGDHL	NM_001143996.1,NM_001143997.1,NM_018245.2	58,58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	343/954,191/802,400/1011	50954894	2,13004	2203	4300	6503	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1198G>A	10.37:g.50954894C>T	ENSP00000363216:p.Ala400Thr		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.A400T	ENST00000374103.4	37	c.1198	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.554669	0.96501	0.0	2.33E-4	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.97831	-4.56;-4.56;-4.56	5.76	5.76	0.90799	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99330	0.9765	H	0.97918	4.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.986;0.975;0.995	D	0.98581	1.0650	10	0.87932	D	0	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	343;191;400	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	T	400;343;191	ENSP00000363216:A400T;ENSP00000401356:A343T;ENSP00000390240:A191T	ENSP00000363216:A400T	A	-	1	0	OGDHL	50624900	1.000000	0.71417	0.969000	0.41365	0.734000	0.41952	7.776000	0.85560	2.736000	0.93811	0.655000	0.94253	GCC	OGDHL	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000197444		0.632	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1		0.00	26	0	C	NM_018245		50954894	-1			no_errors	ENST00000374103	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T
OGFOD3	79701	genome.wustl.edu	37	17	80373456	80373456	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:80373456C>A	ENST00000313056.5	-	2	273	c.122G>T	c.(121-123)aGg>aTg	p.R41M	Y_RNA_ENST00000364369.1_RNA|OGFOD3_ENST00000329197.5_Missense_Mutation_p.R41M|HEXDC_ENST00000337014.6_5'Flank	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	41						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										TAGCCACGGCCTCTGCCACAG	0.657																																																	0													28.0	31.0	30.0					17																	80373456		2203	4300	6503	SO:0001583	missense	0			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.122G>T	17.37:g.80373456C>A	ENSP00000320116:p.Arg41Met		C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.R41M	ENST00000313056.5	37	c.122	CCDS11811.1	17	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858344	0.51376	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.35421	1.79;1.31	5.0	0.555	0.17247	.	0.726201	0.12512	N	0.462391	T	0.44307	0.1287	L	0.61218	1.895	0.09310	N	1	P;P	0.49447	0.79;0.924	B;P	0.53313	0.436;0.723	T	0.30822	-0.9965	10	0.87932	D	0	-8.2603	7.2092	0.25925	0.0:0.5037:0.0:0.4963	.	41;41	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	M	41	ENSP00000320116:R41M;ENSP00000330075:R41M	ENSP00000320116:R41M	R	-	2	0	C17orf101	77966745	0.071000	0.21146	0.000000	0.03702	0.055000	0.15305	0.281000	0.18810	0.098000	0.17522	0.655000	0.94253	AGG	OGFOD3	-	NULL	ENSG00000181396		0.657	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD3	HGNC	protein_coding	OTTHUMT00000442895.1	-	0.00	100	0	C	NM_175902		80373456	-1	tier1	-	no_errors	ENST00000329197	ensembl	human	known	74_37	missense	16.67	90	18	SNP	0.001	A
OIP5	11339	genome.wustl.edu	37	15	41624711	41624711	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:41624711delG	ENST00000220514.3	-	1	108	c.49delC	c.(49-51)cggfs	p.R17fs	NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000450318.1_5'Flank|NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000560747.1_5'Flank|NUSAP1_ENST00000260359.6_5'Flank|NUSAP1_ENST00000559596.1_5'Flank|NUSAP1_ENST00000450592.2_5'Flank	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	17					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AAGTCCCCCCGGGGCGGCGTT	0.647																																																	0													69.0	82.0	77.0					15																	41624711		2203	4300	6503	SO:0001589	frameshift_variant	0			AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"""MIS18 kinetochore protein homolog B (S. pombe)"", ""cancer/testis antigen 86"""	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.49delC	15.37:g.41624711delG	ENSP00000220514:p.Arg17fs		Q96BX7	Frame_Shift_Del	DEL	NULL	p.R17fs	ENST00000220514.3	37	c.49	CCDS10074.1	15																																																																																			OIP5	-	NULL	ENSG00000104147		0.647	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIP5	HGNC	protein_coding	OTTHUMT00000252576.2		0.00	59	0	G	NM_007280		41624711	-1	tier1		no_errors	ENST00000220514	ensembl	human	known	74_37	frame_shift_del	26.00	37	13	DEL	0.000	-
OLFM3	118427	genome.wustl.edu	37	1	102296290	102296290	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:102296290G>T	ENST00000338858.5	-	3	369	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.L104M|OLFM3_ENST00000359814.3_Missense_Mutation_p.L124M|OLFM3_ENST00000536598.1_Missense_Mutation_p.L29M			Q96PB7	NOE3_HUMAN	olfactomedin 3	124					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTTGCCTTCAGCCCTTTCATT	0.378																																																	0													197.0	190.0	192.0					1																	102296290		2203	4300	6503	SO:0001583	missense	0			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.370C>A	1.37:g.102296290G>T	ENSP00000345192:p.Leu124Met		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.L124M	ENST00000338858.5	37	c.370		1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.028854	0.54790	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	T;T;T;T	0.78924	0.43;0.43;-1.22;0.43	5.41	3.51	0.40186	.	0.069254	0.64402	D	0.000019	T	0.75339	0.3836	M	0.68593	2.085	0.37520	D	0.917484	P;P	0.42456	0.631;0.78	P;P	0.52514	0.701;0.661	T	0.78074	-0.2346	10	0.87932	D	0	.	10.0219	0.42048	0.1357:0.1169:0.7474:0.0	.	104;124	Q5T3V6;Q96PB7	.;NOE3_HUMAN	M	104;124;29;124	ENSP00000359121:L104M;ENSP00000345192:L124M;ENSP00000443471:L29M;ENSP00000352867:L124M	ENSP00000345192:L124M	L	-	1	2	OLFM3	102068878	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.991000	0.49409	0.775000	0.33450	-1.128000	0.01989	CTG	OLFM3	-	pfam_Noelin-1,superfamily_Quino_amine_DH_bsu	ENSG00000118733		0.378	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	-	0.00	62	0	G			102296290	-1	tier1	-	no_errors	ENST00000338858	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
OLIG3	167826	genome.wustl.edu	37	6	137814989	137814989	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:137814989G>A	ENST00000367734.2	-	1	542	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	107	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ATGACTTCGCGCAGCCCGTCC	0.607																																																	0													123.0	92.0	103.0					6																	137814989		2203	4300	6503	SO:0001583	missense	0			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.319C>T	6.37:g.137814989G>A	ENSP00000356708:p.Arg107Cys		Q8N8Q0	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R107C	ENST00000367734.2	37	c.319	CCDS5186.1	6	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679568	0.68042	.	.	ENSG00000177468	ENST00000367734	D	0.98747	-5.11	5.54	4.68	0.58851	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	D	0.000001	D	0.99348	0.9771	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99032	1.0821	10	0.87932	D	0	-14.2958	9.207	0.37296	0.0734:0.0:0.7816:0.1449	.	107	Q7RTU3	OLIG3_HUMAN	C	107	ENSP00000356708:R107C	ENSP00000356708:R107C	R	-	1	0	OLIG3	137856682	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.741000	0.55090	1.334000	0.45468	0.591000	0.81541	CGC	OLIG3	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000177468		0.607	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG3	HGNC	protein_coding	OTTHUMT00000042405.1	-	0.00	44	0	G	NM_175747		137814989	-1	tier1	-	no_errors	ENST00000367734	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	A
ONECUT1	3175	genome.wustl.edu	37	15	53081028	53081028	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:53081028T>C	ENST00000305901.5	-	1	1181	c.1054A>G	c.(1054-1056)Aag>Gag	p.K352E	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	352					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGCAGCCACTTCCACATCCTC	0.657																																																	0													44.0	46.0	45.0					15																	53081028		2194	4293	6487	SO:0001583	missense	0			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1054A>G	15.37:g.53081028T>C	ENSP00000302630:p.Lys352Glu		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.K352E	ENST00000305901.5	37	c.1054	CCDS10150.1	15	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239267	0.58995	.	.	ENSG00000169856	ENST00000305901	T	0.49139	0.79	4.32	4.32	0.51571	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.055979	0.64402	D	0.000002	T	0.51770	0.1694	L	0.38531	1.155	0.80722	D	1	P	0.48162	0.906	P	0.55785	0.784	T	0.55642	-0.8109	10	0.72032	D	0.01	-18.1963	12.4865	0.55877	0.0:0.0:0.0:1.0	.	352	Q9UBC0	HNF6_HUMAN	E	352	ENSP00000302630:K352E	ENSP00000302630:K352E	K	-	1	0	ONECUT1	50868320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.789000	0.85783	1.806000	0.52798	0.421000	0.28195	AAG	ONECUT1	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000169856		0.657	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT1	HGNC	protein_coding	OTTHUMT00000254849.2	-	0.00	72	0	T			53081028	-1	tier1	-	no_errors	ENST00000305901	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	C
OPRD1	4985	genome.wustl.edu	37	1	29189683	29189683	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:29189683C>A	ENST00000234961.2	+	3	1249	c.1007C>A	c.(1006-1008)cCc>cAc	p.P336H		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	336					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGCCGCAAGCCCTGCGGCCGC	0.701																																																	0													12.0	12.0	12.0					1																	29189683		2194	4297	6491	SO:0001583	missense	0			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.1007C>A	1.37:g.29189683C>A	ENSP00000234961:p.Pro336His		B5B0B8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt	p.P336H	ENST00000234961.2	37	c.1007	CCDS329.1	1	.	.	.	.	.	.	.	.	.	.	C	6.044	0.376538	0.11466	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.37058	1.22	4.06	3.12	0.35913	.	0.068881	0.64402	D	0.000015	T	0.21062	0.0507	N	0.22421	0.69	0.26327	N	0.97758	B	0.06786	0.001	B	0.06405	0.002	T	0.07139	-1.0788	10	0.41790	T	0.15	.	6.4772	0.22043	0.0:0.7809:0.0:0.2191	.	336	P41143	OPRD_HUMAN	H	336;288	ENSP00000234961:P336H	ENSP00000234961:P336H	P	+	2	0	OPRD1	29062270	1.000000	0.71417	0.994000	0.49952	0.875000	0.50365	2.724000	0.47285	2.097000	0.63578	0.462000	0.41574	CCC	OPRD1	-	prints_Delta_opi_rcpt	ENSG00000116329		0.701	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRD1	HGNC	protein_coding	OTTHUMT00000010330.1	-	0.00	33	0	C	NM_000911		29189683	+1	tier1	-	no_errors	ENST00000234961	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.775	A
OPRM1	4988	genome.wustl.edu	37	6	154411172	154411172	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:154411172T>C	ENST00000330432.7	+	2	739	c.502T>C	c.(502-504)Tac>Cac	p.Y168H	OPRM1_ENST00000524163.1_Missense_Mutation_p.Y168H|OPRM1_ENST00000522236.1_Missense_Mutation_p.Y68H|OPRM1_ENST00000229768.5_Missense_Mutation_p.Y168H|OPRM1_ENST00000435918.2_Missense_Mutation_p.Y168H|OPRM1_ENST00000520708.1_Missense_Mutation_p.Y68H|OPRM1_ENST00000518759.1_Missense_Mutation_p.Y87H|OPRM1_ENST00000414028.2_Missense_Mutation_p.Y168H|OPRM1_ENST00000360422.4_Missense_Mutation_p.Y168H|OPRM1_ENST00000452687.2_Missense_Mutation_p.Y168H|OPRM1_ENST00000419506.2_Missense_Mutation_p.Y168H|OPRM1_ENST00000434900.2_Missense_Mutation_p.Y261H|OPRM1_ENST00000428397.2_Missense_Mutation_p.Y168H|OPRM1_ENST00000522555.1_Missense_Mutation_p.Y68H|OPRM1_ENST00000337049.4_Missense_Mutation_p.Y168H	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	168					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGTTGATCGATACATTGCAGT	0.448																																																	0													249.0	241.0	244.0					6																	154411172		2150	4278	6428	SO:0001583	missense	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.502T>C	6.37:g.154411172T>C	ENSP00000328264:p.Tyr168His		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.Y261H	ENST00000330432.7	37	c.781	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279822	0.80692	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	H	0.95679	3.705	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.96495	0.9367	10	0.87932	D	0	.	16.1596	0.81693	0.0:0.0:0.0:1.0	.	168;168;168;168;261;87;168;68;168;168;168;168;168	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;P35372-6;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	H	261;68;87;168;168;168;168;168;168;168;168;168;168;68;68	ENSP00000394624:Y261H;ENSP00000430876:Y68H;ENSP00000430260:Y87H;ENSP00000328264:Y168H;ENSP00000353598:Y168H;ENSP00000411903:Y168H;ENSP00000410497:Y168H;ENSP00000229768:Y168H;ENSP00000403549:Y168H;ENSP00000430097:Y168H;ENSP00000399359:Y168H;ENSP00000413752:Y168H;ENSP00000338381:Y168H;ENSP00000429719:Y68H;ENSP00000429373:Y68H	ENSP00000229768:Y168H	Y	+	1	0	OPRM1	154452865	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.216000	0.71823	0.533000	0.62120	TAC	OPRM1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000112038		0.448	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	-	0.00	54	0	T	NM_000914		154411172	+1	tier1	-	no_errors	ENST00000434900	ensembl	human	known	74_37	missense	8.57	64	6	SNP	1.000	C
OR10H2	26538	genome.wustl.edu	37	19	15838913	15838913	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15838913delC	ENST00000305899.3	+	1	80	c.60delC	c.(58-60)ttcfs	p.F20fs		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCTCTGCCTTCCCCCACCTCC	0.577																																																	0													280.0	242.0	255.0					19																	15838913		2203	4300	6503	SO:0001589	frameshift_variant	0			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.60delC	19.37:g.15838913delC	ENSP00000306095:p.Phe20fs		Q6IFQ1|Q96R58	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H22fs	ENST00000305899.3	37	c.60	CCDS12333.1	19																																																																																			OR10H2	-	NULL	ENSG00000171942		0.577	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H2	HGNC	protein_coding	OTTHUMT00000460917.1		0.00	106	0	C			15838913	+1	tier1		no_errors	ENST00000305899	ensembl	human	known	74_37	frame_shift_del	11.63	76	10	DEL	0.982	-
OR10H3	26532	genome.wustl.edu	37	19	15852911	15852911	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15852911C>T	ENST00000305892.1	+	1	709	c.709C>T	c.(709-711)Cac>Tac	p.H237Y		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGAGGGCCGGCACAAGACTTT	0.502																																																	0													217.0	192.0	200.0					19																	15852911		2203	4300	6503	SO:0001583	missense	0				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.709C>T	19.37:g.15852911C>T	ENSP00000307130:p.His237Tyr		Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H237Y	ENST00000305892.1	37	c.709	CCDS12334.1	19	.	.	.	.	.	.	.	.	.	.	.	1.633	-0.518592	0.04171	.	.	ENSG00000171936	ENST00000305892	T	0.00207	8.55	2.37	1.31	0.21738	GPCR, rhodopsin-like superfamily (1);	0.175905	0.27113	U	0.020878	T	0.00178	0.0005	N	0.26130	0.795	0.09310	N	0.999999	D	0.63880	0.993	P	0.59825	0.864	T	0.55023	-0.8205	10	0.21014	T	0.42	.	3.7319	0.08496	0.0:0.6445:0.0:0.3555	.	237	O60404	O10H3_HUMAN	Y	237	ENSP00000307130:H237Y	ENSP00000307130:H237Y	H	+	1	0	OR10H3	15713911	0.000000	0.05858	0.577000	0.28562	0.071000	0.16799	0.085000	0.14912	1.330000	0.45394	0.205000	0.17691	CAC	OR10H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171936		0.502	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H3	HGNC	protein_coding	OTTHUMT00000460918.1	-	0.00	74	0	C			15852911	+1	tier1	-	no_errors	ENST00000305892	ensembl	human	known	74_37	missense	13.85	56	9	SNP	0.223	T
OR10H5	284433	genome.wustl.edu	37	19	15904918	15904918	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15904918delC	ENST00000308940.8	+	1	158	c.60delC	c.(58-60)ttcfs	p.F20fs		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCTCTGCCTTCCCCCACCTCC	0.582																																																	0													248.0	207.0	221.0					19																	15904918		2203	4300	6503	SO:0001589	frameshift_variant	0			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.60delC	19.37:g.15904918delC	ENSP00000310704:p.Phe20fs		Q6IFJ0|Q96R60	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H22fs	ENST00000308940.8	37	c.60	CCDS32940.1	19																																																																																			OR10H5	-	NULL	ENSG00000172519		0.582	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1		0.00	94	0	C			15904918	+1	tier1		no_errors	ENST00000308940	ensembl	human	known	74_37	frame_shift_del	12.05	73	10	DEL	0.994	-
OR10Z1	128368	genome.wustl.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)accfs	p.T282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.46																																																	0																																										SO:0001589	frameshift_variant	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.850dupC	1.37:g.158577078_158577078dupC	ENSP00000354707:p.Thr282fs		Q5VYL0|Q6IFR7	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L284fs	ENST00000361284.1	37	c.844_845	CCDS30901.1	1																																																																																			OR10Z1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000198967		0.460	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1		0.00	41	0	-	NM_001004478		158577073	+1	tier1		no_errors	ENST00000361284	ensembl	human	known	74_37	frame_shift_ins	34.92	41	22	INS	0.995:0.938	C
OR13H1	347468	genome.wustl.edu	37	X	130678939	130678939	+	Missense_Mutation	SNP	C	C	T	rs571641755		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:130678939C>T	ENST00000338616.3	+	1	990	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					AGATGTTAAACGGGCAATAAG	0.398																																																	0													80.0	76.0	77.0					X																	130678939		2201	4292	6493	SO:0001583	missense	0				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.892C>T	X.37:g.130678939C>T	ENSP00000340748:p.Arg298Trp		B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R298W	ENST00000338616.3	37	c.892	CCDS35396.1	X	.	.	.	.	.	.	.	.	.	.	c	10.73	1.431281	0.25813	.	.	ENSG00000171054	ENST00000338616	T	0.40476	1.03	4.87	2.14	0.27477	.	0.369652	0.19507	U	0.112602	T	0.32164	0.0820	L	0.51914	1.62	0.09310	N	1	P	0.47841	0.901	B	0.40329	0.326	T	0.26916	-1.0089	10	0.87932	D	0	.	4.482	0.11771	0.0885:0.149:0.6058:0.1566	.	298	Q8NG92	O13H1_HUMAN	W	298	ENSP00000340748:R298W	ENSP00000340748:R298W	R	+	1	2	OR13H1	130506620	0.013000	0.17824	0.110000	0.21437	0.625000	0.37756	1.008000	0.29872	0.130000	0.18549	-0.186000	0.12905	CGG	OR13H1	-	NULL	ENSG00000171054		0.398	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13H1	HGNC	protein_coding	OTTHUMT00000058297.1	-	0.00	25	0	C			130678939	+1	tier1	-	no_errors	ENST00000338616	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.197	T
OR1J2	26740	genome.wustl.edu	37	9	125273680	125273680	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:125273680C>A	ENST00000335302.5	+	1	600	c.600C>A	c.(598-600)ttC>ttA	p.F200L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGGTCATGTTCACAGTAGGGG	0.522																																																	0													143.0	116.0	125.0					9																	125273680		2203	4300	6503	SO:0001583	missense	0				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.600C>A	9.37:g.125273680C>A	ENSP00000335575:p.Phe200Leu		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F200L	ENST00000335302.5	37	c.600	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	C	8.206	0.799175	0.16397	.	.	ENSG00000197233	ENST00000335302	T	0.00042	8.84	4.91	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.228566	0.22801	U	0.055474	T	0.00073	0.0002	N	0.16016	0.355	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.15235	-1.0444	10	0.38643	T	0.18	.	4.6758	0.12712	0.1524:0.6:0.0:0.2476	.	200	Q8NGS2	OR1J2_HUMAN	L	200	ENSP00000335575:F200L	ENSP00000335575:F200L	F	+	3	2	OR1J2	124313501	0.000000	0.05858	0.174000	0.22961	0.009000	0.06853	-0.951000	0.03885	0.694000	0.31654	-0.156000	0.13503	TTC	OR1J2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197233		0.522	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	-	0.00	95	0	C			125273680	+1	tier1	-	no_errors	ENST00000335302	ensembl	human	known	74_37	missense	17.86	46	10	SNP	0.296	A
OR1N1	138883	genome.wustl.edu	37	9	125289191	125289191	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:125289191delG	ENST00000304880.2	-	1	381	c.382delC	c.(382-384)ctcfs	p.L128fs		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GAGTAGCAGAGGGGGTGGCAA	0.517																																																	0													95.0	81.0	86.0					9																	125289191		2203	4300	6503	SO:0001589	frameshift_variant	0			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.382delC	9.37:g.125289191delG	ENSP00000306974:p.Leu128fs		A3KFM1|O43870|Q6IF16|Q96R93	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L128fs	ENST00000304880.2	37	c.382	CCDS6844.1	9																																																																																			OR1N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000171505		0.517	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N1	HGNC	protein_coding	OTTHUMT00000053938.1		0.00	31	0	G			125289191	-1	tier1		no_errors	ENST00000304880	ensembl	human	known	74_37	frame_shift_del	14.29	42	7	DEL	0.800	-
OR2AE1	81392	genome.wustl.edu	37	7	99474005	99474005	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:99474005C>T	ENST00000316368.2	-	1	675	c.652G>A	c.(652-654)Gtc>Atc	p.V218I		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGGATGAAGACATAGGATGTA	0.483																																																	0													112.0	95.0	101.0					7																	99474005		2203	4300	6503	SO:0001583	missense	0			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.652G>A	7.37:g.99474005C>T	ENSP00000313936:p.Val218Ile		B2RPD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V218I	ENST00000316368.2	37	c.652	CCDS34696.1	7	.	.	.	.	.	.	.	.	.	.	C	2.443	-0.328197	0.05314	.	.	ENSG00000244623	ENST00000316368	T	0.00224	8.51	3.62	0.661	0.17874	GPCR, rhodopsin-like superfamily (1);	1.227090	0.06250	N	0.691846	T	0.00144	0.0004	N	0.21240	0.645	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.18085	-1.0348	10	0.48119	T	0.1	.	6.0869	0.19973	0.0:0.4811:0.0:0.5189	.	218	Q8NHA4	O2AE1_HUMAN	I	218	ENSP00000313936:V218I	ENSP00000313936:V218I	V	-	1	0	OR2AE1	99311941	0.000000	0.05858	0.004000	0.12327	0.159000	0.22180	-2.111000	0.01333	0.120000	0.18254	0.494000	0.49563	GTC	OR2AE1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000244623		0.483	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AE1	HGNC	protein_coding	OTTHUMT00000345053.1	-	0.00	37	0	C			99474005	-1	tier1	-	no_errors	ENST00000316368	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.003	T
OR2A14	135941	genome.wustl.edu	37	7	143826931	143826931	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:143826931C>T	ENST00000408899.2	+	1	781	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCTGCTCCTCCCACCTTTGCG	0.602																																																	0													108.0	112.0	111.0					7																	143826931		2048	4216	6264	SO:0001819	synonymous_variant	0				CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.726C>T	7.37:g.143826931C>T			Q6IF41|Q8NGT8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S242	ENST00000408899.2	37	c.726	CCDS43672.1	7																																																																																			OR2A14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000221938		0.602	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A14	HGNC	protein_coding	OTTHUMT00000349980.1	-	0.00	99	0	C			143826931	+1	tier1	-	no_errors	ENST00000408899	ensembl	human	known	74_37	silent	25.86	86	30	SNP	1.000	T
OR2L13	284521	genome.wustl.edu	37	1	248263058	248263059	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:248263058_248263059delCT	ENST00000358120.2	+	2	526_527	c.381_382delCT	c.(379-384)cactctfs	p.S128fs	OR2L13_ENST00000366478.2_Frame_Shift_Del_p.S128fs			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCATCTGCCACTCTCTCTATTA	0.495																																																	0																																										SO:0001589	frameshift_variant	0			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.381_382delCT	1.37:g.248263064_248263065delCT	ENSP00000350836:p.Ser128fs		Q5VUR5	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y130fs	ENST00000358120.2	37	c.381_382	CCDS1637.1	1																																																																																			OR2L13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000196071		0.495	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L13	HGNC	protein_coding	OTTHUMT00000097342.1		0.00	48	0	CT	NM_175911		248263059	+1	tier1		no_errors	ENST00000358120	ensembl	human	known	74_37	frame_shift_del	8.57	32	3	DEL	0.005:0.989	-
OR2L13	284521	genome.wustl.edu	37	1	248263222	248263222	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:248263222C>T	ENST00000358120.2	+	2	690	c.545C>T	c.(544-546)gCc>gTc	p.A182V	OR2L13_ENST00000366478.2_Missense_Mutation_p.A182V			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GATGTCCCAGCCATGTTGCTT	0.453																																																	0													268.0	239.0	249.0					1																	248263222		2203	4300	6503	SO:0001583	missense	0			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.545C>T	1.37:g.248263222C>T	ENSP00000350836:p.Ala182Val		Q5VUR5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A182V	ENST00000358120.2	37	c.545	CCDS1637.1	1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384115	0.61845	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00152	8.66;8.66	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.138558	0.33127	N	0.005258	T	0.00384	0.0012	M	0.65320	2	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54807	-0.8238	10	0.52906	T	0.07	.	11.3428	0.49543	0.1825:0.8175:0.0:0.0	.	182	Q8N349	OR2LD_HUMAN	V	182	ENSP00000355434:A182V;ENSP00000350836:A182V	ENSP00000350836:A182V	A	+	2	0	OR2L13	246329845	0.000000	0.05858	0.998000	0.56505	0.915000	0.54546	0.646000	0.24797	2.138000	0.66242	0.650000	0.86243	GCC	OR2L13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000196071		0.453	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L13	HGNC	protein_coding	OTTHUMT00000097342.1	-	0.00	36	0	C	NM_175911		248263222	+1	tier1	-	no_errors	ENST00000358120	ensembl	human	known	74_37	missense	21.43	22	6	SNP	0.043	T
OR2M2	391194	genome.wustl.edu	37	1	248343303	248343303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:248343303C>T	ENST00000359682.2	+	1	16	c.16C>T	c.(16-18)Cag>Tag	p.Q6*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGAGAATCAGACCTTCAA	0.418																																																	0													196.0	192.0	194.0					1																	248343303		2203	4300	6503	SO:0001587	stop_gained	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.16C>T	1.37:g.248343303C>T	ENSP00000352710:p.Gln6*		A3KFT4	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q6*	ENST00000359682.2	37	c.16	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.359849	0.82353	.	.	ENSG00000198601	ENST00000359682	.	.	.	1.44	0.331	0.15933	.	0.306691	0.17821	U	0.160853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.1444	0.31102	0.0:0.7474:0.2526:0.0	.	.	.	.	X	6	.	ENSP00000352710:Q6X	Q	+	1	0	OR2M2	246409926	0.000000	0.05858	0.048000	0.18961	0.566000	0.35808	-0.954000	0.03873	-0.084000	0.12595	0.298000	0.19748	CAG	OR2M2	-	NULL	ENSG00000198601		0.418	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2		0.00	93	0	C	NM_001004688		248343303	+1			no_errors	ENST00000359682	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	0.970	T
OR4B1	119765	genome.wustl.edu	37	11	48238936	48238936	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:48238936T>A	ENST00000309562.2	+	1	593	c.575T>A	c.(574-576)aTg>aAg	p.M192K		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GACACCTTCATGGAGGGGGTT	0.458																																																	0													168.0	147.0	154.0					11																	48238936		2201	4298	6499	SO:0001583	missense	0			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.575T>A	11.37:g.48238936T>A	ENSP00000311605:p.Met192Lys		Q6IF75|Q96R64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M192K	ENST00000309562.2	37	c.575	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	T	7.940	0.742472	0.15642	.	.	ENSG00000175619	ENST00000309562	T	0.00091	8.74	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.472043	0.17871	N	0.159192	T	0.00178	0.0005	L	0.35593	1.075	0.09310	N	1	B	0.27679	0.185	B	0.34346	0.18	T	0.50250	-0.8850	10	0.72032	D	0.01	.	13.6316	0.62198	0.0:0.0:0.0:1.0	.	192	Q8NGF8	OR4B1_HUMAN	K	192	ENSP00000311605:M192K	ENSP00000311605:M192K	M	+	2	0	OR4B1	48195512	0.000000	0.05858	0.302000	0.25058	0.009000	0.06853	0.704000	0.25661	2.100000	0.63781	0.416000	0.27883	ATG	OR4B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000175619		0.458	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	HGNC	protein_coding	OTTHUMT00000390554.1	-	0.00	75	0	T	NM_001005470		48238936	+1	tier1	-	no_errors	ENST00000309562	ensembl	human	known	74_37	missense	34.78	45	24	SNP	0.012	A
OR4F21	441308	genome.wustl.edu	37	8	116995	116996	+	Frame_Shift_Ins	INS	-	-	G	rs563787219	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:116995_116996insG	ENST00000320901.3	-	1	47_48	c.29_30insC	c.(28-30)tctfs	p.S10fs		NM_001005504.1	NP_001005504.1	O95013	O4F21_HUMAN	olfactory receptor, family 4, subfamily F, member 21	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						all_cancers(2;8.42e-24)|all_epithelial(2;5.38e-15)|Lung NSC(2;2.68e-06)|all_lung(2;5.05e-06)|Ovarian(12;0.0731)|Colorectal(14;0.0785)|all_hematologic(2;0.157)|Myeloproliferative disorder(644;0.185)|all_neural(12;0.186)|Acute lymphoblastic leukemia(644;0.244)		Epithelial(5;5.01e-18)|all cancers(2;6.06e-17)|OV - Ovarian serous cystadenocarcinoma(5;8.27e-09)|BRCA - Breast invasive adenocarcinoma(11;1.63e-06)|Colorectal(2;5.31e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0649)		ACAAAAACTCAGATACCACTGA	0.441													|||unknown(NO_COVERAGE)	15	0.00299521	0.0015	0.0058	5008	,	,		10220	0.0069		0.0	False		,,,				2504	0.002																0																																										SO:0001589	frameshift_variant	0				CCDS34792.1	8p23.3	2012-08-09		2004-03-10	ENSG00000176269	ENSG00000176269		"""GPCR / Class A : Olfactory receptors"""	19583	protein-coding gene	gene with protein product				OR4F21P			Standard	NM_001005504		Approved		uc011kwf.2	O95013	OTTHUMG00000163908	ENST00000320901.3:c.30dupC	8.37:g.116996_116996dupG	ENSP00000318878:p.Ser10fs		A6NIU1	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E11fs	ENST00000320901.3	37	c.30_29	CCDS34792.1	8																																																																																			OR4F21	-	NULL	ENSG00000176269		0.441	OR4F21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F21	HGNC	protein_coding	OTTHUMT00000376340.1		0.00	58	0	-			116996	-1	tier1		no_errors	ENST00000320901	ensembl	human	known	74_37	frame_shift_ins	6.45	58	4	INS	0.272:0.213	G
OR51E1	143503	genome.wustl.edu	37	11	4674493	4674493	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:4674493A>G	ENST00000396952.5	+	2	1387	c.737A>G	c.(736-738)cAt>cGt	p.H246R	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCGTCTCTCATGTGTGTGCT	0.498																																																	0													242.0	229.0	234.0					11																	4674493		2201	4298	6499	SO:0001583	missense	0			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.737A>G	11.37:g.4674493A>G	ENSP00000380155:p.His246Arg		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H246R	ENST00000396952.5	37	c.737	CCDS31358.2	11	.	.	.	.	.	.	.	.	.	.	A	19.41	3.822821	0.71028	.	.	ENSG00000180785	ENST00000396952	T	0.71698	-0.59	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	D	0.90508	0.7026	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93969	0.7247	10	0.87932	D	0	.	13.7621	0.62973	1.0:0.0:0.0:0.0	.	245	Q8TCB6	O51E1_HUMAN	R	246	ENSP00000380155:H246R	ENSP00000380155:H246R	H	+	2	0	OR51E1	4631069	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	8.817000	0.91985	2.188000	0.69820	0.533000	0.62120	CAT	OR51E1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000180785		0.498	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E1	HGNC	protein_coding	OTTHUMT00000347136.2	-	0.00	44	0	A	NM_152430		4674493	+1	tier1	-	no_errors	ENST00000396952	ensembl	human	known	74_37	missense	37.04	34	20	SNP	1.000	G
OR51E2	81285	genome.wustl.edu	37	11	4703475	4703475	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:4703475delA	ENST00000396950.3	-	2	706	c.467delT	c.(466-468)ttcfs	p.F156fs		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	156					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCAGTGGGAAAAAAAAGAG	0.552																																																	0													65.0	62.0	63.0					11																	4703475		2201	4298	6499	SO:0001589	frameshift_variant	0			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.467delT	11.37:g.4703475delA	ENSP00000380153:p.Phe156fs		B2RA63|Q6IF94	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F156fs	ENST00000396950.3	37	c.467	CCDS7751.1	11																																																																																			OR51E2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167332		0.552	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E2	HGNC	protein_coding	OTTHUMT00000257198.1		0.00	41	0	A	NM_030774		4703475	-1	tier1		no_errors	ENST00000396950	ensembl	human	known	74_37	frame_shift_del	42.86	20	15	DEL	0.027	-
OR51S1	119692	genome.wustl.edu	37	11	4870355	4870355	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:4870355T>C	ENST00000322101.2	-	1	159	c.84A>G	c.(82-84)ctA>ctG	p.L28L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCACCTGATAGGCCTGGCA	0.552																																																	0													106.0	100.0	102.0					11																	4870355		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.84A>G	11.37:g.4870355T>C			B9EGZ1|Q6IFI2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L28	ENST00000322101.2	37	c.84	CCDS31362.1	11																																																																																			OR51S1	-	NULL	ENSG00000176922		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1	-	0.00	30	0	T	NM_001004758		4870355	-1	tier1	-	no_errors	ENST00000322101	ensembl	human	known	74_37	silent	16.67	35	7	SNP	0.212	C
OR52B6	340980	genome.wustl.edu	37	11	5603090	5603090	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:5603090A>G	ENST00000345043.2	+	1	984	c.984A>G	c.(982-984)tcA>tcG	p.S328S	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTTTTCAAATCTTGCCA	0.423																																																	0													136.0	121.0	126.0					11																	5603090		1882	4110	5992	SO:0001819	synonymous_variant	0			AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.984A>G	11.37:g.5603090A>G			Q6IFI7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S328	ENST00000345043.2	37	c.984	CCDS41611.1	11																																																																																			OR52B6	-	NULL	ENSG00000187747		0.423	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B6	HGNC	protein_coding	OTTHUMT00000143397.1	-	0.00	44	0	A	NM_001005162		5603090	+1	tier1	-	no_errors	ENST00000345043	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.832	G
OR52N4	390072	genome.wustl.edu	37	11	5776885	5776885	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:5776885T>C	ENST00000317254.3	+	1	963	c.915T>C	c.(913-915)tgT>tgC	p.C305C	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TACGAGACTGTGTCATAAGGA	0.418																																																	0													82.0	75.0	77.0					11																	5776885		1892	4140	6032	SO:0001819	synonymous_variant	0			AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.915T>C	11.37:g.5776885T>C			B2RNP8|Q6IF77	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C305	ENST00000317254.3	37	c.915	CCDS44528.1	11																																																																																			OR52N4	-	NULL	ENSG00000181074		0.418	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N4	HGNC	protein_coding	OTTHUMT00000143350.1	-	0.00	57	0	T	NM_001005175		5776885	+1	tier1	-	no_errors	ENST00000317254	ensembl	human	known	74_37	silent	11.11	40	5	SNP	0.464	C
OR4X2	119764	genome.wustl.edu	37	11	48267012	48267012	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:48267012C>T	ENST00000302329.3	+	1	405	c.357C>T	c.(355-357)tgC>tgT	p.C119C		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGCCATCTGCAAGCCCCTCA	0.517																																																	0													150.0	130.0	137.0					11																	48267012		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.357C>T	11.37:g.48267012C>T			B2RNK3|Q6IF73|Q96R63	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C119	ENST00000302329.3	37	c.357	CCDS31486.1	11																																																																																			OR4X2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172208		0.517	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X2	HGNC	protein_coding	OTTHUMT00000383376.2	-	0.00	55	0	C	NM_001004727		48267012	+1	tier1	-	no_errors	ENST00000302329	ensembl	human	known	74_37	silent	22.86	54	16	SNP	0.996	T
OR5D14	219436	genome.wustl.edu	37	11	55563075	55563075	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:55563075C>T	ENST00000335605.1	+	1	44	c.44C>T	c.(43-45)gCc>gTc	p.A15V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCCACCTTTGCCCTTTTAGGT	0.418																																																	0													117.0	115.0	116.0					11																	55563075		2200	4296	6496	SO:0001583	missense	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.44C>T	11.37:g.55563075C>T	ENSP00000334456:p.Ala15Val		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A15V	ENST00000335605.1	37	c.44	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	c	11.25	1.584199	0.28268	.	.	ENSG00000186113	ENST00000335605	T	0.00543	6.68	5.07	-3.1	0.05315	.	0.711731	0.12214	N	0.489004	T	0.00144	0.0004	N	0.00157	-1.96	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37572	-0.9700	10	0.39692	T	0.17	-1.0203	6.1742	0.20434	0.1453:0.2053:0.0:0.6494	.	15	Q8NGL3	OR5DE_HUMAN	V	15	ENSP00000334456:A15V	ENSP00000334456:A15V	A	+	2	0	OR5D14	55319651	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.733000	0.04898	-0.421000	0.07416	-0.158000	0.13435	GCC	OR5D14	-	NULL	ENSG00000186113		0.418	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0.00	55	0	C	NM_001004735		55563075	+1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	missense	15.15	56	10	SNP	0.000	T
OR5I1	10798	genome.wustl.edu	37	11	55703222	55703223	+	In_Frame_Ins	INS	-	-	GAT			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:55703222_55703223insGAT	ENST00000301532.3	-	1	653_654	c.654_655insATC	c.(652-657)atctcc>atcATCtcc	p.218_219insI		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	218					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I218I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAAAAGTAGGAGATGATGATGA	0.436																																																	1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001652	inframe_insertion	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.652_654dupATC	11.37:g.55703229_55703231dupGAT	ENSP00000301532:p.Ile218_Ile218dup		Q6IEU4	In_Frame_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.218in_frame_insI	ENST00000301532.3	37	c.655_654	CCDS7949.1	11																																																																																			OR5I1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167825		0.436	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1		0.00	25	0	-	NM_006637		55703223	-1	tier1		no_errors	ENST00000301532	ensembl	human	known	74_37	in_frame_ins	12.90	27	4	INS	0.977:0.940	GAT
OR5M3	219482	genome.wustl.edu	37	11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:56237709delT	ENST00000312240.2	-	1	305	c.265delA	c.(265-267)acafs	p.T89fs		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TAAGTAATTGTTTTTTTATCT	0.363																																																	0													87.0	80.0	83.0					11																	56237709		2201	4295	6496	SO:0001589	frameshift_variant	0			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.265delA	11.37:g.56237709delT	ENSP00000312208:p.Thr89fs		B2RNM7|Q6IEW4|Q96RC0	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T89fs	ENST00000312240.2	37	c.265	CCDS31532.1	11																																																																																			OR5M3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174937		0.363	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1		0.00	89	0	T	NM_001004742		56237709	-1	tier1		no_errors	ENST00000312240	ensembl	human	known	74_37	frame_shift_del	16.05	68	13	DEL	0.002	-
OR6C75	390323	genome.wustl.edu	37	12	55759191	55759192	+	Frame_Shift_Ins	INS	-	-	TT	rs398102300|rs75456529	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:55759191_55759192insTT	ENST00000343399.3	+	1	297_298	c.297_298insTT	c.(298-300)tttfs	p.F100fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGGCTCAGCTATTTTTTTTCAT	0.436																																																	0																																										SO:0001589	frameshift_variant	0				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.304_305dupTT	12.37:g.55759198_55759199dupTT	ENSP00000368987:p.Phe100fs			Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I102fs	ENST00000343399.3	37	c.297_298	CCDS31820.1	12																																																																																			OR6C75	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000187857		0.436	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C75	HGNC	protein_coding	OTTHUMT00000406418.1		0.00	33	0	-			55759192	+1	tier1		no_errors	ENST00000343399	ensembl	human	known	74_37	frame_shift_ins	12.20	36	5	INS	0.002:0.964	TT
OR6K2	81448	genome.wustl.edu	37	1	158669503	158669503	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:158669503delA	ENST00000359610.2	-	1	983	c.940delT	c.(940-942)tccfs	p.S314fs		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGTCTTACGGAAAAAAATATC	0.368																																																	0													71.0	70.0	71.0					1																	158669503		2203	4300	6503	SO:0001589	frameshift_variant	0			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.940delT	1.37:g.158669503delA	ENSP00000352626:p.Ser314fs		B9EH33|Q6IFR6	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S314fs	ENST00000359610.2	37	c.940	CCDS30902.1	1																																																																																			OR6K2	-	NULL	ENSG00000196171		0.368	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K2	HGNC	protein_coding	OTTHUMT00000059061.1		0.00	65	0	A	NM_001005279		158669503	-1	tier1		no_errors	ENST00000359610	ensembl	human	known	74_37	frame_shift_del	13.64	38	6	DEL	0.000	-
OR6X1	390260	genome.wustl.edu	37	11	123624444	123624444	+	Silent	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:123624444T>G	ENST00000327930.2	-	1	809	c.783A>C	c.(781-783)acA>acC	p.T261T		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGAGTGTGCTGTGGGTCTTA	0.473																																																	0													89.0	75.0	80.0					11																	123624444		2202	4299	6501	SO:0001819	synonymous_variant	0			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.783A>C	11.37:g.123624444T>G			B9EGW9|Q6IFA0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T261	ENST00000327930.2	37	c.783	CCDS31695.1	11																																																																																			OR6X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221931		0.473	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6X1	HGNC	protein_coding	OTTHUMT00000387436.1	-	0.00	49	0	T	NM_001005188		123624444	-1	tier1	-	no_errors	ENST00000327930	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.744	G
OR7D2	162998	genome.wustl.edu	37	19	9297112	9297112	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:9297112T>G	ENST00000344248.2	+	1	834	c.655T>G	c.(655-657)Tca>Gca	p.S219A		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	219					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTCTCTTATTCACGAATTGC	0.463																																																	0													110.0	99.0	103.0					19																	9297112		2203	4300	6503	SO:0001583	missense	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.655T>G	19.37:g.9297112T>G	ENSP00000345563:p.Ser219Ala		Q6IFJ7|Q8N133	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S219A	ENST00000344248.2	37	c.655	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	T	7.686	0.690138	0.15039	.	.	ENSG00000188000	ENST00000344248	T	0.00048	8.82	2.21	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.589336	0.12276	U	0.483389	T	0.00109	0.0003	N	0.20445	0.575	0.09310	N	1	B	0.15473	0.013	B	0.22880	0.042	T	0.20571	-1.0271	10	0.51188	T	0.08	.	3.1083	0.06350	0.4224:0.0:0.2147:0.3629	.	219	Q96RA2	OR7D2_HUMAN	A	219	ENSP00000345563:S219A	ENSP00000345563:S219A	S	+	1	0	OR7D2	9158112	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.607000	0.02070	0.257000	0.21650	0.418000	0.28097	TCA	OR7D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188000		0.463	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	-	0.00	52	0	T			9297112	+1	tier1	-	no_errors	ENST00000344248	ensembl	human	known	74_37	missense	25.00	39	13	SNP	0.001	G
OR7E24	26648	genome.wustl.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	T	-	rs201985790		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:9361741delT	ENST00000456448.1	+	1	136	c.22delT	c.(22-24)tttfs	p.F11fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388																																																	0													49.0	50.0	50.0					19																	9361741		1897	4135	6032	SO:0001589	frameshift_variant	0			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.22delT	19.37:g.9361741delT	ENSP00000387523:p.Phe11fs		B9EJD9|Q9UPJ1	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F11fs	ENST00000456448.1	37	c.22	CCDS45955.1	19																																																																																			OR7E24	-	NULL	ENSG00000237521		0.388	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7E24	HGNC	protein_coding	OTTHUMT00000449006.1		0.00	72	0	T			9361741	+1	tier1		no_errors	ENST00000456448	ensembl	human	known	74_37	frame_shift_del	23.64	42	13	DEL	0.000	-
OR7A17	26333	genome.wustl.edu	37	19	14991541	14991541	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14991541A>G	ENST00000327462.2	-	1	723	c.627T>C	c.(625-627)ggT>ggC	p.G209G		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CCACAAGGGGACCACCAGCCA	0.473																																																	0													73.0	73.0	73.0					19																	14991541		2203	4300	6503	SO:0001819	synonymous_variant	0			X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.627T>C	19.37:g.14991541A>G			Q6IFQ6|Q96R98	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G209	ENST00000327462.2	37	c.627	CCDS12319.1	19																																																																																			OR7A17	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000185385		0.473	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A17	HGNC	protein_coding	OTTHUMT00000466523.1	-	0.00	66	0	A	NM_030901		14991541	-1	tier1	-	no_errors	ENST00000327462	ensembl	human	known	74_37	silent	33.33	32	16	SNP	0.000	G
OR9Q2	219957	genome.wustl.edu	37	11	57958566	57958566	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:57958566T>G	ENST00000311591.3	+	1	661	c.604T>G	c.(604-606)Ttt>Gtt	p.F202V		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GATTATTGTGTTTGCTCTTTT	0.473																																																	0													191.0	191.0	191.0					11																	57958566		2201	4296	6497	SO:0001583	missense	0			AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.604T>G	11.37:g.57958566T>G	ENSP00000308714:p.Phe202Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F202V	ENST00000311591.3	37	c.604	CCDS31544.1	11	.	.	.	.	.	.	.	.	.	.	T	13.02	2.112158	0.37242	.	.	ENSG00000186513	ENST00000311591	T	0.00054	8.8	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	T	0.00144	0.0004	N	0.04063	-0.285	0.28901	N	0.893274	D	0.89917	1.0	D	0.91635	0.999	T	0.59408	-0.7460	10	0.02654	T	1	-17.7037	6.4097	0.21684	0.0:0.083:0.1593:0.7576	.	202	Q8NGE9	OR9Q2_HUMAN	V	202	ENSP00000308714:F202V	ENSP00000308714:F202V	F	+	1	0	OR9Q2	57715142	0.001000	0.12720	0.981000	0.43875	0.588000	0.36517	0.737000	0.26144	2.182000	0.69389	0.460000	0.39030	TTT	OR9Q2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186513		0.473	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q2	HGNC	protein_coding	OTTHUMT00000394540.1	-	0.00	39	0	T	NM_001005283		57958566	+1	tier1	-	no_errors	ENST00000311591	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.794	G
ORMDL3	94103	genome.wustl.edu	37	17	38077409	38077409	+	3'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:38077409C>T	ENST00000304046.2	-	0	1995				GSDMB_ENST00000520542.1_5'Flank|GSDMB_ENST00000394179.1_5'Flank|GSDMB_ENST00000309481.7_5'Flank|GSDMB_ENST00000418519.1_5'Flank|ORMDL3_ENST00000579695.1_3'UTR	NM_139280.2	NP_644809.1	Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3						ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CCCTATGATACACGGGGTGGG	0.478																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"""ORM1 (S. cerevisiae)-like 3"", ""ORM1-like 3 (S. cerevisiae)"""			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000304046.2:c.*1394G>A	17.37:g.38077409C>T			B3KS83|Q6UY83	RNA	SNP	-	NULL	ENST00000304046.2	37	NULL	CCDS11355.1	17																																																																																			ORMDL3	-	-	ENSG00000172057		0.478	ORMDL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORMDL3	HGNC	protein_coding	OTTHUMT00000257002.2	-	0.00	33	0	C	NM_139280		38077409	-1	tier1	-	no_errors	ENST00000579287	ensembl	human	known	74_37	rna	35.71	18	10	SNP	0.837	T
OSBPL3	26031	genome.wustl.edu	37	7	24932011	24932011	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:24932011C>T	ENST00000313367.2	-	2	532	c.81G>A	c.(79-81)aaG>aaA	p.K27K	OSBPL3_ENST00000409069.1_Silent_p.K27K|OSBPL3_ENST00000396431.1_Silent_p.K27K|OSBPL3_ENST00000431825.2_Silent_p.K27K|OSBPL3_ENST00000352860.1_Silent_p.K27K|OSBPL3_ENST00000353930.1_Silent_p.K27K|OSBPL3_ENST00000396429.1_Silent_p.K27K	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	27					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GACTTCCTTGCTTGGAAGAGC	0.413																																																	0													118.0	99.0	106.0					7																	24932011		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.81G>A	7.37:g.24932011C>T			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K27	ENST00000313367.2	37	c.81	CCDS5390.1	7																																																																																			OSBPL3	-	NULL	ENSG00000070882		0.413	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	-	0.00	40	0	C			24932011	-1	tier1	-	no_errors	ENST00000313367	ensembl	human	known	74_37	silent	10.42	43	5	SNP	1.000	T
OSMR	9180	genome.wustl.edu	37	5	38904107	38904107	+	Missense_Mutation	SNP	G	G	A	rs567293590		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:38904107G>A	ENST00000274276.3	+	8	1517	c.1115G>A	c.(1114-1116)gGt>gAt	p.G372D		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	372	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAACTCCATGGTGAAGGAAAA	0.338																																																	0													59.0	61.0	61.0					5																	38904107		2203	4299	6502	SO:0001583	missense	0			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1115G>A	5.37:g.38904107G>A	ENSP00000274276:p.Gly372Asp		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G372D	ENST00000274276.3	37	c.1115	CCDS3928.1	5	.	.	.	.	.	.	.	.	.	.	G	2.918	-0.223799	0.06061	.	.	ENSG00000145623	ENST00000274276	T	0.53206	0.63	5.75	-5.4	0.02656	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.272330	0.05229	N	0.509939	T	0.38719	0.1051	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32241	-0.9914	10	0.37606	T	0.19	.	7.4247	0.27092	0.4547:0.1992:0.3461:0.0	.	372	Q99650	OSMR_HUMAN	D	372	ENSP00000274276:G372D	ENSP00000274276:G372D	G	+	2	0	OSMR	38939864	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.221000	0.09202	-1.092000	0.03062	0.655000	0.94253	GGT	OSMR	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000145623		0.338	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	-	0.00	74	0	G	NM_003999		38904107	+1	tier1	-	no_errors	ENST00000274276	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	A
OSTM1-AS1	100287366	genome.wustl.edu	37	6	108478898	108478898	+	lincRNA	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:108478898A>G	ENST00000441184.1	+	0	1636									OSTM1 antisense RNA 1																		CTCGGGGCCCAGTCAATgggg	0.642																																																	0																																												0			BC031282		6q21	2012-10-12	2012-08-15		ENSG00000225174	ENSG00000225174		"""Long non-coding RNAs"""	43666	non-coding RNA	RNA, long non-coding			"""OSTM1 antisense RNA 1 (non-protein coding)"""				Standard	XR_112923		Approved				OTTHUMG00000015320		6.37:g.108478898A>G				RNA	SNP	-	NULL	ENST00000441184.1	37	NULL		6																																																																																			OSTM1-AS1	-	-	ENSG00000225174		0.642	OSTM1-AS1-001	KNOWN	basic	lincRNA	OSTM1-AS1	HGNC	lincRNA	OTTHUMT00000041713.2	-	0.00	93	0	A			108478898	+1	tier1	-	no_errors	ENST00000441184	ensembl	human	known	74_37	rna	9.09	90	9	SNP	1.000	G
OTOF	9381	genome.wustl.edu	37	2	26700559	26700559	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:26700559C>T	ENST00000272371.2	-	19	2399	c.2273G>A	c.(2272-2274)cGt>cAt	p.R758H	OTOF_ENST00000402415.3_Missense_Mutation_p.R68H|OTOF_ENST00000403946.3_Missense_Mutation_p.R758H|OTOF_ENST00000339598.3_Missense_Mutation_p.R11H|OTOF_ENST00000338581.6_Missense_Mutation_p.R11H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	758					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGGCGACGCTCAGGGTA	0.627																																					GBM(102;732 1451 20652 24062 31372)												0													55.0	39.0	44.0					2																	26700559		2197	4292	6489	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2273G>A	2.37:g.26700559C>T	ENSP00000272371:p.Arg758His		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R758H	ENST00000272371.2	37	c.2273	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.343567	0.95783	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80824	-1.18;-1.18;-1.14;-1.42;-1.42	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.89171	0.6639	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;1.0;0.999	P;D;D;D	0.78314	0.745;0.934;0.991;0.949	D	0.89819	0.3987	10	0.51188	T	0.08	-3.8251	17.3578	0.87341	0.0:1.0:0.0:0.0	.	758;11;68;11	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	H	11;11;68;758;758	ENSP00000345137:R11H;ENSP00000344521:R11H;ENSP00000383906:R68H;ENSP00000272371:R758H;ENSP00000385255:R758H	ENSP00000272371:R758H	R	-	2	0	OTOF	26554063	1.000000	0.71417	0.967000	0.41034	0.964000	0.63967	7.624000	0.83124	2.191000	0.70037	0.511000	0.50034	CGT	OTOF	-	NULL	ENSG00000115155		0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0.00	62	0	C			26700559	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	32.79	41	20	SNP	1.000	T
OTOF	9381	genome.wustl.edu	37	2	26700658	26700658	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:26700658G>A	ENST00000272371.2	-	19	2341				OTOF_ENST00000402415.3_Missense_Mutation_p.A35V|OTOF_ENST00000403946.3_Intron|OTOF_ENST00000339598.3_Intron|OTOF_ENST00000338581.6_Intron	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACAGCCCCGCCTCCCCAGC	0.577																																					GBM(102;732 1451 20652 24062 31372)												0													39.0	34.0	36.0					2																	26700658		2185	4292	6477	SO:0001627	intron_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2215-41C>T	2.37:g.26700658G>A			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.A35V	ENST00000272371.2	37	c.104	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775831	0.31411	.	.	ENSG00000115155	ENST00000402415	T	0.77489	-1.1	3.4	-2.55	0.06288	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.09310	N	0.999999	B	0.15719	0.014	B	0.09377	0.004	T	0.33675	-0.9859	7	.	.	.	.	4.1022	0.10018	0.0:0.2215:0.4005:0.378	.	35	Q9HC10-3	.	V	35	ENSP00000383906:A35V	.	A	-	2	0	OTOF	26554162	0.006000	0.16342	0.000000	0.03702	0.010000	0.07245	0.075000	0.14686	-0.324000	0.08589	0.313000	0.20887	GCG	OTOF	-	NULL	ENSG00000115155		0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0.00	47	0	G			26700658	-1	tier1	-	no_errors	ENST00000402415	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.000	A
OTOF	9381	genome.wustl.edu	37	2	26705387	26705387	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:26705387G>T	ENST00000272371.2	-	14	1592	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H	OTOF_ENST00000403946.3_Missense_Mutation_p.P489H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	489	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGAGTGGGGGGAAGAGGTC	0.557																																					GBM(102;732 1451 20652 24062 31372)												0													106.0	103.0	104.0					2																	26705387		2203	4300	6503	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1466C>A	2.37:g.26705387G>T	ENSP00000272371:p.Pro489His		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P489H	ENST00000272371.2	37	c.1466	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740300	0.89573	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.69306	-0.39;-0.39	5.13	5.13	0.70059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88148	0.2849	10	0.87932	D	0	-26.2006	18.1792	0.89772	0.0:0.0:1.0:0.0	.	489	Q9HC10	OTOF_HUMAN	H	489	ENSP00000272371:P489H;ENSP00000385255:P489H	ENSP00000272371:P489H	P	-	2	0	OTOF	26558891	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.807000	0.99171	2.396000	0.81511	0.561000	0.74099	CCC	OTOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000115155		0.557	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3		0.00	31	0	G			26705387	-1			no_errors	ENST00000272371	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T
OTOF	9381	genome.wustl.edu	37	2	26725267	26725267	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:26725267T>C	ENST00000272371.2	-	7	737	c.611A>G	c.(610-612)gAc>gGc	p.D204G	OTOF_ENST00000403946.3_Missense_Mutation_p.D204G	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	204					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGTCAAGGTCTTCCATCTC	0.532																																					GBM(102;732 1451 20652 24062 31372)												0													96.0	77.0	84.0					2																	26725267		2203	4300	6503	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.611A>G	2.37:g.26725267T>C	ENSP00000272371:p.Asp204Gly		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.D204G	ENST00000272371.2	37	c.611	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873433	0.72180	.	.	ENSG00000115155	ENST00000272371;ENST00000403946;ENST00000380499	T;T	0.81163	-1.46;-1.46	5.52	5.52	0.82312	.	0.046847	0.85682	D	0.000000	T	0.70307	0.3209	L	0.48362	1.52	0.58432	D	0.999999	P	0.43094	0.799	B	0.31869	0.137	T	0.69935	-0.5010	10	0.19147	T	0.46	-28.4877	14.4804	0.67579	0.0:0.0:0.0:1.0	.	204	Q9HC10	OTOF_HUMAN	G	204;204;88	ENSP00000272371:D204G;ENSP00000385255:D204G	ENSP00000272371:D204G	D	-	2	0	OTOF	26578771	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.521000	0.67086	2.100000	0.63781	0.533000	0.62120	GAC	OTOF	-	NULL	ENSG00000115155		0.532	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0.00	42	0	T			26725267	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	36.36	28	16	SNP	1.000	C
OTOF	9381	genome.wustl.edu	37	2	26741971	26741971	+	Silent	SNP	G	G	A	rs201753818	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:26741971G>A	ENST00000272371.2	-	4	360	c.234C>T	c.(232-234)atC>atT	p.I78I	OTOF_ENST00000403946.3_Silent_p.I78I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	78					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGGTCCCGATGAGCCTGG	0.567													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		21913	0.0		0.0	False		,,,				2504	0.0				GBM(102;732 1451 20652 24062 31372)												0													75.0	54.0	61.0					2																	26741971		2203	4300	6503	SO:0001819	synonymous_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.234C>T	2.37:g.26741971G>A			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.I78	ENST00000272371.2	37	c.234	CCDS1725.1	2																																																																																			OTOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000115155		0.567	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3		0.00	29	0	G			26741971	-1			no_errors	ENST00000272371	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.944	A
OTOG	340990	genome.wustl.edu	37	11	17623888	17623888	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:17623888C>A	ENST00000399391.2	+	31	3877	c.3877C>A	c.(3877-3879)Ctg>Atg	p.L1293M	OTOG_ENST00000399397.1_Missense_Mutation_p.L1220M|OTOG_ENST00000342528.2_Missense_Mutation_p.L299M	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	1293					adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						TGTGAGCTTCCTGCTGACAGC	0.612																																																	0																																										SO:0001583	missense	0			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.3877C>A	11.37:g.17623888C>A	ENSP00000382323:p.Leu1293Met		A8MTX6|A8MUJ0|B7WPC4	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.L1293M	ENST00000399391.2	37	c.3877	CCDS59225.1	11	.	.	.	.	.	.	.	.	.	.	C	5.115	0.206804	0.09704	.	.	ENSG00000188162	ENST00000399391;ENST00000399397;ENST00000342528	T;T;T	0.14766	2.48;2.6;3.12	4.91	2.72	0.32119	.	0.091030	0.38272	N	0.001746	T	0.13030	0.0316	L	0.33792	1.035	0.27363	N	0.955913	P	0.50819	0.939	P	0.53518	0.728	T	0.12268	-1.0554	10	0.15499	T	0.54	.	4.964	0.14082	0.4143:0.4739:0.0:0.1118	.	299	Q6ZRI0-2	.	M	1293;1220;299	ENSP00000382323:L1293M;ENSP00000382329:L1220M;ENSP00000341666:L299M	ENSP00000341666:L299M	L	+	1	2	OTOG	17580464	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.413000	0.34725	2.280000	0.76307	0.561000	0.74099	CTG	OTOG	-	pfam_AbfB,superfamily_AbfB	ENSG00000188162		0.612	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		-	0.00	31	0	C			17623888	+1	tier1	-	no_errors	ENST00000399391	ensembl	human	known	74_37	missense	28.00	18	7	SNP	1.000	A
OTOP3	347741	genome.wustl.edu	37	17	72945397	72945397	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:72945397G>T	ENST00000328801.4	+	7	1677	c.1677G>T	c.(1675-1677)aaG>aaT	p.K559N		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	559						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGCTAGAAAAGGATTTCTACG	0.562																																																	0													90.0	85.0	87.0					17																	72945397		2203	4300	6503	SO:0001583	missense	0			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1677G>T	17.37:g.72945397G>T	ENSP00000328090:p.Lys559Asn			Missense_Mutation	SNP	pfam_Otopetrin	p.K559N	ENST00000328801.4	37	c.1677	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206486	0.39003	.	.	ENSG00000182938	ENST00000328801	T	0.22134	1.97	4.28	3.18	0.36537	.	0.000000	0.64402	D	0.000002	T	0.18130	0.0435	L	0.28274	0.84	0.09310	N	1	P	0.45283	0.855	P	0.49387	0.609	T	0.07731	-1.0757	10	0.20519	T	0.43	-23.7339	8.8821	0.35380	0.2136:0.0:0.7864:0.0	.	559	Q7RTS5	OTOP3_HUMAN	N	559	ENSP00000328090:K559N	ENSP00000328090:K559N	K	+	3	2	OTOP3	70456992	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.228000	0.32588	1.946000	0.56461	0.313000	0.20887	AAG	OTOP3	-	pfam_Otopetrin	ENSG00000182938		0.562	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	-	0.00	88	0	G	NM_178233		72945397	+1	tier1	-	no_errors	ENST00000328801	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.025	T
OTUD6B	51633	genome.wustl.edu	37	8	92090607	92090607	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:92090607G>T	ENST00000285420.4	+	4	528	c.429G>T	c.(427-429)aaG>aaT	p.K143N	OTUD6B_ENST00000404789.3_Missense_Mutation_p.K12N	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	113							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			CATTGGAAAAGGAGCGAGAAG	0.363																																																	0													31.0	33.0	32.0					8																	92090607		2199	4297	6496	SO:0001583	missense	0				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.429G>T	8.37:g.92090607G>T	ENSP00000285420:p.Lys143Asn		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU	p.K143N	ENST00000285420.4	37	c.429	CCDS6253.2	8	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335439	0.41398	.	.	ENSG00000155100	ENST00000285420;ENST00000404789	D;T	0.95554	-3.74;0.82	5.95	0.0936	0.14477	.	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.81341	2.54	0.53688	D	0.999974	P;B	0.46706	0.883;0.245	B;B	0.44224	0.444;0.1	D	0.91347	0.5101	10	0.52906	T	0.07	-21.0367	11.0447	0.47852	0.5285:0.0:0.4715:0.0	.	12;113	B4DEY0;Q8N6M0	.;OTU6B_HUMAN	N	143;12	ENSP00000285420:K143N;ENSP00000384190:K12N	ENSP00000285420:K143N	K	+	3	2	OTUD6B	92159783	1.000000	0.71417	0.671000	0.29857	0.899000	0.52679	1.638000	0.37165	-0.277000	0.09193	-0.145000	0.13849	AAG	OTUD6B	-	NULL	ENSG00000155100		0.363	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OTUD6B	HGNC	protein_coding	OTTHUMT00000319968.1	-	0.00	40	0	G	NM_016023		92090607	+1	tier1	-	no_errors	ENST00000285420	ensembl	human	known	74_37	missense	34.88	28	15	SNP	0.997	T
OTUD7A	161725	genome.wustl.edu	37	15	31776544	31776544	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:31776544C>A	ENST00000307050.4	-	11	1826	c.1734G>T	c.(1732-1734)tcG>tcT	p.S578S	OTUD7A_ENST00000382902.1_Silent_p.S585S	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	578					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ACGTGCTGGCCGACGCACCAG	0.711																																																	0													27.0	30.0	29.0					15																	31776544		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1734G>T	15.37:g.31776544C>A			Q8IWK5	Silent	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.S585	ENST00000307050.4	37	c.1755	CCDS10026.1	15																																																																																			OTUD7A	-	NULL	ENSG00000169918		0.711	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	-	0.00	54	0	C	NM_130901		31776544	-1	tier1	-	no_errors	ENST00000382902	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.847	A
OTUD7B	56957	genome.wustl.edu	37	1	149936187	149936187	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:149936187T>C	ENST00000369135.4	-	6	986	c.692A>G	c.(691-693)aAa>aGa	p.K231R	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	231	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCAGCGCCTTTTCAACGCTTC	0.512																																																	0													109.0	120.0	117.0					1																	149936187		2111	4243	6354	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.692A>G	1.37:g.149936187T>C	ENSP00000358131:p.Lys231Arg		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.K231R	ENST00000369135.4	37	c.692	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.720551	0.30503	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.28454	1.61;1.61	4.87	1.12	0.20585	Ovarian tumour, otubain (2);	0.096756	0.64402	N	0.000001	T	0.09730	0.0239	L	0.40543	1.245	0.42190	D	0.991721	B;B	0.15719	0.014;0.006	B;B	0.25614	0.028;0.062	T	0.10683	-1.0619	9	.	.	.	0.7426	8.4734	0.32999	0.0:0.2379:0.0:0.7621	.	231;231	B7Z643;Q6GQQ9	.;OTU7B_HUMAN	R	231	ENSP00000358131:K231R;ENSP00000408231:K231R	.	K	-	2	0	OTUD7B	148202811	0.959000	0.32827	0.812000	0.32479	0.809000	0.45718	0.877000	0.28106	0.087000	0.17167	0.533000	0.62120	AAA	OTUD7B	-	pfam_OTU,pfscan_OTU	ENSG00000163113		0.512	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	-	0.00	64	0	T	NM_020205		149936187	-1	tier1	-	no_errors	ENST00000369135	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C
OTUD7B	56957	genome.wustl.edu	37	1	149949403	149949403	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:149949403A>G	ENST00000369135.4	-	2	337	c.43T>C	c.(43-45)Tcc>Ccc	p.S15P		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	15					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCTCCTGTGGAACGGACAAAA	0.448																																																	0													149.0	145.0	146.0					1																	149949403		1983	4161	6144	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.43T>C	1.37:g.149949403A>G	ENSP00000358131:p.Ser15Pro		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.S15P	ENST00000369135.4	37	c.43	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540771	0.85917	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.34667	1.35;1.43	5.16	5.16	0.70880	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.42032	-0.9475	9	.	.	.	-8.0527	13.9707	0.64237	1.0:0.0:0.0:0.0	.	15	Q6GQQ9	OTU7B_HUMAN	P	15	ENSP00000358131:S15P;ENSP00000408231:S15P	.	S	-	1	0	OTUD7B	148216027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.351000	0.90072	2.180000	0.69256	0.533000	0.62120	TCC	OTUD7B	-	superfamily_UBA-like	ENSG00000163113		0.448	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	-	0.00	53	0	A	NM_020205		149949403	-1	tier1	-	no_errors	ENST00000369135	ensembl	human	known	74_37	missense	20.34	47	12	SNP	1.000	G
OTX2	5015	genome.wustl.edu	37	14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:57271049delG	ENST00000555006.1	-	3	514	c.106delC	c.(106-108)cggfs	p.R36fs	OTX2_ENST00000554788.1_Intron|OTX2_ENST00000339475.5_Frame_Shift_Del_p.R44fs|OTX2_ENST00000408990.3_Frame_Shift_Del_p.R36fs|OTX2_ENST00000554559.1_Intron			P32243	OTX2_HUMAN	orthodenticle homeobox 2	36					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R44fs*52(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CGCTGTTTCCGGGGGGTGGCT	0.632																																																	1	Insertion - Frameshift(1)	large_intestine(1)											36.0	37.0	37.0					14																	57271049		2203	4300	6503	SO:0001589	frameshift_variant	0			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.106delC	14.37:g.57271049delG	ENSP00000452336:p.Arg36fs		B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Frame_Shift_Del	DEL	pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF	p.R44fs	ENST00000555006.1	37	c.130	CCDS41960.1	14																																																																																			OTX2	-	superfamily_Homeodomain-like,pfscan_Homeobox_dom	ENSG00000165588		0.632	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX2	HGNC	protein_coding	OTTHUMT00000411522.1		0.00	56	0	G	NM_021728.		57271049	-1	tier1		no_errors	ENST00000339475	ensembl	human	known	74_37	frame_shift_del	12.77	41	6	DEL	0.947	-
OVGP1	5016	genome.wustl.edu	37	1	111958968	111958968	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:111958968A>G	ENST00000369732.3	-	10	1188	c.1133T>C	c.(1132-1134)tTg>tCg	p.L378S	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	378					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GATATCATTCAATACGTAGAC	0.542																																																	0													120.0	101.0	108.0					1																	111958968		2203	4300	6503	SO:0001583	missense	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1133T>C	1.37:g.111958968A>G	ENSP00000358747:p.Leu378Ser		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L378S	ENST00000369732.3	37	c.1133	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	A	30	5.054375	0.93793	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.42131	0.98	5.06	5.06	0.68205	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.230040	0.36034	N	0.002824	T	0.44623	0.1302	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.87578	0.998;0.617	T	0.50092	-0.8868	10	0.87932	D	0	-20.7274	12.7815	0.57479	1.0:0.0:0.0:0.0	.	378;442	Q12889;Q59HH5	OVGP1_HUMAN;.	S	378;442;186	ENSP00000358747:L378S	ENSP00000358743:L442S	L	-	2	0	OVGP1	111760491	0.830000	0.29337	0.109000	0.21407	0.957000	0.61999	6.321000	0.72881	2.121000	0.65114	0.482000	0.46254	TTG	OVGP1	-	superfamily_Glycoside_hydrolase_SF	ENSG00000085465		0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	-	0.00	50	0	A	NM_002557		111958968	-1	tier1	-	no_errors	ENST00000369732	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.239	G
OXNAD1	92106	genome.wustl.edu	37	3	16343348	16343348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:16343348delA	ENST00000285083.5	+	7	1113	c.648delA	c.(646-648)gcafs	p.A216fs	OXNAD1_ENST00000435829.2_Frame_Shift_Del_p.A234fs|OXNAD1_ENST00000544043.1_Frame_Shift_Del_p.A234fs|OXNAD1_ENST00000606098.1_Frame_Shift_Del_p.A216fs|OXNAD1_ENST00000605932.1_Frame_Shift_Del_p.A216fs	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	216						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TCTACAGTGCAAAAAATACCA	0.403																																																	0													65.0	66.0	66.0					3																	16343348		2203	4300	6503	SO:0001589	frameshift_variant	0			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.648delA	3.37:g.16343348delA	ENSP00000285083:p.Ala216fs		Q2HYC7|Q59FA4	Frame_Shift_Del	DEL	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase	p.N236fs	ENST00000285083.5	37	c.702	CCDS2630.1	3																																																																																			OXNAD1	-	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6	ENSG00000154814		0.403	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OXNAD1	HGNC	protein_coding	OTTHUMT00000252109.1		0.00	40	0	A	NM_138381		16343348	+1	tier1		no_errors	ENST00000544043	ensembl	human	known	74_37	frame_shift_del	40.00	18	12	DEL	0.128	-
OXTR	5021	genome.wustl.edu	37	3	8809115	8809115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:8809115delC	ENST00000316793.3	-	3	1383	c.759delG	c.(757-759)gggfs	p.G253fs	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	253					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GGGCCACGCGCCCCCCATCGC	0.647																																																	0													18.0	17.0	17.0					3																	8809115		2196	4298	6494	SO:0001589	frameshift_variant	0				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.759delG	3.37:g.8809115delC	ENSP00000324270:p.Gly253fs		Q15071	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.R254fs	ENST00000316793.3	37	c.759	CCDS2570.1	3																																																																																			OXTR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt	ENSG00000180914		0.647	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXTR	HGNC	protein_coding	OTTHUMT00000207061.2		0.00	36	0	C			8809115	-1	tier1		no_errors	ENST00000316793	ensembl	human	known	74_37	frame_shift_del	18.75	26	6	DEL	0.000	-
P2RX1	5023	genome.wustl.edu	37	17	3808604	3808604	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:3808604G>A	ENST00000225538.3	-	2	469	c.195C>T	c.(193-195)gtC>gtT	p.V65V		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	65					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GTTTCACAGAGACACTGCTGA	0.632																																																	0													57.0	62.0	60.0					17																	3808604		2203	4300	6503	SO:0001819	synonymous_variant	0			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.195C>T	17.37:g.3808604G>A			Q9UK84	Silent	SNP	pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.V65	ENST00000225538.3	37	c.195	CCDS11040.1	17																																																																																			P2RX1	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000108405		0.632	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX1	HGNC	protein_coding	OTTHUMT00000438391.1	-	0.00	73	0	G	NM_002558		3808604	-1	tier1	-	no_errors	ENST00000225538	ensembl	human	known	74_37	silent	9.21	69	7	SNP	0.990	A
P2RY2	5029	genome.wustl.edu	37	11	72946284	72946284	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:72946284G>A	ENST00000311131.2	+	3	1547	c.1080G>A	c.(1078-1080)agG>agA	p.R360R	P2RY2_ENST00000393597.2_Silent_p.R360R|P2RY2_ENST00000393596.2_Silent_p.R360R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	360					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	AGGACTCTAGGCGGACAGAGT	0.587																																																	0													89.0	93.0	92.0					11																	72946284		2168	4242	6410	SO:0001819	synonymous_variant	0			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1080G>A	11.37:g.72946284G>A			B2R9W3|Q96EM8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt	p.R360	ENST00000311131.2	37	c.1080	CCDS8219.1	11																																																																																			P2RY2	-	prints_P2Y2_rcpt	ENSG00000175591		0.587	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY2	HGNC	protein_coding	OTTHUMT00000397336.1	-	0.00	31	0	G	NM_176072		72946284	+1	tier1	-	no_errors	ENST00000311131	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.000	A
P2RY8	286530	genome.wustl.edu	37	X	1584894	1584894	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:1584894G>A	ENST00000381297.4	-	2	768	c.558C>T	c.(556-558)agC>agT	p.S186S	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACATGGCCACGCTGGGGAGCA	0.627			T	CRLF2	"""B-ALL, Downs associated ALL"""																																			Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	"""purinergic receptor P2Y, G-protein coupled, 8"""		L	0													129.0	76.0	94.0					X																	1584894		2203	4295	6498	SO:0001819	synonymous_variant	0			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.558C>T	X.37:g.1584894G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.S186	ENST00000381297.4	37	c.558	CCDS14115.1	X																																																																																			P2RY8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182162		0.627	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY8	HGNC	protein_coding	OTTHUMT00000055602.1	-	0.00	56	0	G	NM_178129		1584894	-1	tier1	-	no_errors	ENST00000381297	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.174	A
PACRG	135138	genome.wustl.edu	37	6	163149263	163149263	+	5'UTR	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:163149263G>T	ENST00000337019.3	+	0	220				PACRG_ENST00000366888.2_5'UTR|PACRG_ENST00000366889.2_5'UTR|PACRG_ENST00000542669.1_3'UTR|PARK2_ENST00000366896.1_5'Flank|PARK2_ENST00000366898.1_5'Flank|PARK2_ENST00000366897.1_5'Flank|PARK2_ENST00000366892.1_5'Flank|PARK2_ENST00000338468.3_5'Flank|PARK2_ENST00000366894.1_5'Flank	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated						spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ACATTTTCTAGGAAGATGGTG	0.463																																																	0													144.0	167.0	159.0					6																	163149263		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.-5G>T	6.37:g.163149263G>T			E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	RNA	SNP	-	NULL	ENST00000337019.3	37	NULL	CCDS5284.1	6																																																																																			PACRG	-	-	ENSG00000112530		0.463	PACRG-003	KNOWN	basic|CCDS	protein_coding	PACRG	HGNC	protein_coding	OTTHUMT00000400424.1	-	0.00	38	0	G	NM_152410		163149263	+1	tier1	-	no_errors	ENST00000542669	ensembl	human	known	74_37	rna	13.04	20	3	SNP	1.000	T
PACRG	135138	genome.wustl.edu	37	6	163149330	163149330	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:163149330C>A	ENST00000337019.3	+	2	287	c.63C>A	c.(61-63)acC>acA	p.T21T	PACRG_ENST00000366888.2_Silent_p.T21T|PACRG_ENST00000366889.2_Silent_p.T21T|PACRG_ENST00000542669.1_3'UTR|PARK2_ENST00000366896.1_5'Flank|PARK2_ENST00000366898.1_5'Flank|PARK2_ENST00000366897.1_5'Flank|PARK2_ENST00000366892.1_5'Flank|PARK2_ENST00000338468.3_5'Flank|PARK2_ENST00000366894.1_5'Flank	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	21					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CGAAGAGGACCAAGCTGCTGG	0.478																																																	0													111.0	122.0	118.0					6																	163149330		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.63C>A	6.37:g.163149330C>A			E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Silent	SNP	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	p.T21	ENST00000337019.3	37	c.63	CCDS5284.1	6																																																																																			PACRG	-	NULL	ENSG00000112530		0.478	PACRG-003	KNOWN	basic|CCDS	protein_coding	PACRG	HGNC	protein_coding	OTTHUMT00000400424.1	-	0.00	45	0	C	NM_152410		163149330	+1	tier1	-	no_errors	ENST00000337019	ensembl	human	known	74_37	silent	13.51	32	5	SNP	1.000	A
PAFAH1B1	5048	genome.wustl.edu	37	17	2576016	2576016	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:2576016G>A	ENST00000397195.5	+	7	1087	c.636G>A	c.(634-636)agG>agA	p.R212R	PAFAH1B1_ENST00000572915.2_3'UTR|PAFAH1B1_ENST00000451360.2_Silent_p.R41R	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CTGCCTCAAGGGATAAAACTA	0.428																																																	0													108.0	98.0	101.0					17																	2576016		2203	4300	6503	SO:0001819	synonymous_variant	0			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.636G>A	17.37:g.2576016G>A				Silent	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R212	ENST00000397195.5	37	c.636	CCDS32528.1	17																																																																																			PAFAH1B1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000007168		0.428	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	HGNC	protein_coding	OTTHUMT00000437797.2		0.00	35	0	G	NM_000430		2576016	+1			no_errors	ENST00000397195	ensembl	human	known	74_37	silent	8.00	23	2	SNP	1.000	A
PAFAH1B1	5048	genome.wustl.edu	37	17	2585247	2585247	+	3'UTR	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:2585247A>T	ENST00000397195.5	+	0	1835				RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000572915.2_Intron|RP11-74E22.5_ENST00000610120.1_RNA|PAFAH1B1_ENST00000451360.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TTACACACAAAGTATTCATGC	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.*151A>T	17.37:g.2585247A>T				RNA	SNP	-	NULL	ENST00000397195.5	37	NULL	CCDS32528.1	17																																																																																			PAFAH1B1	-	-	ENSG00000007168		0.348	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	HGNC	protein_coding	OTTHUMT00000437797.2	-	0.00	56	0	A	NM_000430		2585247	+1	tier1	-	no_errors	ENST00000397193	ensembl	human	known	74_37	rna	8.33	44	4	SNP	1.000	T
PAK4	10298	genome.wustl.edu	37	19	39663724	39663724	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:39663724C>T	ENST00000593690.1	+	5	798	c.371C>T	c.(370-372)aCg>aTg	p.T124M	PAK4_ENST00000321944.4_Missense_Mutation_p.T124M|PAK4_ENST00000599386.1_Intron|PAK4_ENST00000435673.2_Missense_Mutation_p.T124M|PAK4_ENST00000358301.3_Missense_Mutation_p.T124M|PAK4_ENST00000599470.1_Intron|PAK4_ENST00000360442.3_Missense_Mutation_p.T124M	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	124	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCGGCCACCACGGCCAGAGGG	0.731																																																	0													4.0	6.0	5.0					19																	39663724		1871	3672	5543	SO:0001583	missense	0			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.371C>T	19.37:g.39663724C>T	ENSP00000469413:p.Thr124Met		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.T124M	ENST00000593690.1	37	c.371	CCDS12528.1	19	.	.	.	.	.	.	.	.	.	.	C	4.943	0.175163	0.09391	.	.	ENSG00000130669	ENST00000358301;ENST00000435673;ENST00000360442	T;T;T	0.71341	-0.56;-0.56;-0.56	3.76	-7.52	0.01341	.	1.578750	0.03441	N	0.209345	T	0.51584	0.1683	L	0.36672	1.1	0.09310	N	1	B;B	0.17268	0.021;0.0	B;B	0.06405	0.002;0.0	T	0.29336	-1.0015	10	0.45353	T	0.12	.	0.8339	0.01136	0.2219:0.3124:0.123:0.3427	.	124;124	O96013-4;O96013	.;PAK4_HUMAN	M	124	ENSP00000351049:T124M;ENSP00000392753:T124M;ENSP00000353625:T124M	ENSP00000351049:T124M	T	+	2	0	PAK4	44355564	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-4.783000	0.00186	-1.040000	0.03271	-0.273000	0.10243	ACG	PAK4	-	NULL	ENSG00000130669		0.731	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1		0.00	31	0	C			39663724	+1			no_errors	ENST00000358301	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.000	T
PALLD	23022	genome.wustl.edu	37	4	169611845	169611845	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:169611845G>A	ENST00000505667.1	+	7	1600	c.1427G>A	c.(1426-1428)cGg>cAg	p.R476Q	PALLD_ENST00000261509.6_Missense_Mutation_p.R476Q|PALLD_ENST00000335742.7_Missense_Mutation_p.R94Q|PALLD_ENST00000333488.4_Missense_Mutation_p.R353Q|PALLD_ENST00000512127.1_Missense_Mutation_p.R94Q			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	476	Ig-like C2-type 2.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGTGGTTTCGGCAAGGGAGT	0.532									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													87.0	97.0	94.0					4																	169611845		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1427G>A	4.37:g.169611845G>A	ENSP00000425556:p.Arg476Gln		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R476Q	ENST00000505667.1	37	c.1427	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.305859	0.95629	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000508898;ENST00000333488;ENST00000512127;ENST00000503457	T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.81	5.81	0.92471	.	0.000000	0.29389	U	0.012289	D	0.85725	0.5763	M	0.80508	2.5	0.46798	D	0.999204	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.986;0.999	D	0.85038	0.0921	10	0.48119	T	0.1	.	20.0736	0.97735	0.0:0.0:1.0:0.0	.	476;94;476	B7ZMM5;B3KTG2;B2RTX2	.;.;.	Q	476;94;476;455;353;94;94	ENSP00000261509:R476Q;ENSP00000336735:R94Q;ENSP00000425556:R476Q;ENSP00000423063:R455Q;ENSP00000328945:R353Q;ENSP00000426947:R94Q;ENSP00000424288:R94Q	ENSP00000261509:R476Q	R	+	2	0	PALLD	169848420	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.607000	0.82883	2.742000	0.94016	0.650000	0.86243	CGG	PALLD	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000129116		0.532	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	-	0.00	72	0	G	NM_016081		169611845	+1	tier1	-	no_errors	ENST00000261509	ensembl	human	known	74_37	missense	14.29	60	10	SNP	1.000	A
PALLD	23022	genome.wustl.edu	37	4	169812208	169812208	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:169812208G>T	ENST00000505667.1	+	11	2273	c.2100G>T	c.(2098-2100)ccG>ccT	p.P700P	PALLD_ENST00000261509.6_Splice_Site_p.P700P|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000335742.7_Splice_Site_p.P542P|PALLD_ENST00000507735.1_Splice_Site_p.P213P|PALLD_ENST00000512127.1_Splice_Site_p.P318P			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	924	Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATGGCCAGCCGGTACTGATAG	0.448									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													65.0	64.0	65.0					4																	169812208		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2100+1G>T	4.37:g.169812208G>T			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P700	ENST00000505667.1	37	c.2100	CCDS54818.1	4																																																																																			PALLD	-	NULL	ENSG00000129116		0.448	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1		0.00	17	0	G	NM_016081	Silent	169812208	+1			no_errors	ENST00000261509	ensembl	human	known	74_37	silent	9.38	29	3	SNP	1.000	T
AKAP2	11217	genome.wustl.edu	37	9	112899369	112899370	+	In_Frame_Ins	INS	-	-	CAG			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:112899369_112899370insCAG	ENST00000259318.7	+	2	1059_1060	c.852_853insCAG	c.(853-855)cag>CAGcag	p.285_285Q>QQ	AKAP2_ENST00000374525.1_In_Frame_Ins_p.374_374Q>QQ|PALM2-AKAP2_ENST00000302798.7_In_Frame_Ins_p.516_516Q>QQ|AKAP2_ENST00000434623.2_In_Frame_Ins_p.374_374Q>QQ|AKAP2_ENST00000555236.1_In_Frame_Ins_p.516_516Q>QQ|PALM2-AKAP2_ENST00000374530.3_In_Frame_Ins_p.516_516Q>QQ|AKAP2_ENST00000510514.5_In_Frame_Ins_p.516_516Q>QQ	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	285										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						agaagcagttacagcagcagca	0.55																																																	0																																										SO:0001652	inframe_insertion	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.868_870dupCAG	9.37:g.112899376_112899378dupCAG	ENSP00000259318:p.Gln290dup		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	In_Frame_Ins	INS	pfam_Paralemmin,pfam_RII_binding_1	p.519in_frame_insQ	ENST00000259318.7	37	c.1545_1546	CCDS48003.1	9																																																																																			PALM2-AKAP2	-	NULL	ENSG00000157654		0.550	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3		0.00	27	0	-	NM_001004065		112899370	+1	tier1		no_errors	ENST00000374530	ensembl	human	known	74_37	in_frame_ins	37.04	17	10	INS	0.145:0.823	CAG
PANK1	53354	genome.wustl.edu	37	10	91353582	91353582	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:91353582G>A	ENST00000307534.4	-	4	1630	c.1475C>T	c.(1474-1476)gCt>gTt	p.A492V	PANK1_ENST00000322191.6_Intron|PANK1_ENST00000371774.2_Missense_Mutation_p.A294V|MIR107_ENST00000362127.1_RNA|PANK1_ENST00000342512.3_Missense_Mutation_p.A267V	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	492					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TGATGCTACAGCAGATCCTTG	0.448																																																	0													212.0	185.0	194.0					10																	91353582		2203	4300	6503	SO:0001583	missense	0			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1475C>T	10.37:g.91353582G>A	ENSP00000302108:p.Ala492Val		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.A492V	ENST00000307534.4	37	c.1475	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050559	0.55218	.	.	ENSG00000152782	ENST00000342512;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D	0.99563	-6.17;-6.17;-6.17	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	L	0.31207	0.915	0.80722	D	1	B;D;B	0.89917	0.002;1.0;0.002	B;D;B	0.91635	0.011;0.999;0.011	D	0.98908	1.0779	10	0.12430	T	0.62	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	294;492;267	Q8TE04-4;Q8TE04;Q8TE04-2	.;PANK1_HUMAN;.	V	267;294;492;355	ENSP00000345118:A267V;ENSP00000360839:A294V;ENSP00000302108:A492V	ENSP00000302108:A492V	A	-	2	0	PANK1	91343562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.793000	0.99091	2.941000	0.99782	0.655000	0.94253	GCT	PANK1	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000152782		0.448	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	HGNC	protein_coding		-	0.00	83	0	G			91353582	-1	tier1	-	no_errors	ENST00000307534	ensembl	human	known	74_37	missense	11.76	75	10	SNP	1.000	A
PANK4	55229	genome.wustl.edu	37	1	2457955	2457955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:2457955delG	ENST00000378466.3	-	1	84	c.72delC	c.(70-72)cccfs	p.P24fs	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Frame_Shift_Del_p.P24fs	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	24					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGATCTCGTCGGGGGGCAGCG	0.701																																																	0													49.0	47.0	48.0					1																	2457955		2202	4298	6500	SO:0001589	frameshift_variant	0			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.72delC	1.37:g.2457955delG	ENSP00000367727:p.Pro24fs		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Frame_Shift_Del	DEL	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.D25fs	ENST00000378466.3	37	c.72	CCDS42.1	1																																																																																			PANK4	-	pirsf_PanK_long	ENSG00000157881		0.701	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1		0.00	127	0	G			2457955	-1	tier1		no_errors	ENST00000378466	ensembl	human	known	74_37	frame_shift_del	9.52	76	8	DEL	0.998	-
PAPD5	64282	genome.wustl.edu	37	16	50264212	50264215	+	3'UTR	DEL	AAAA	AAAA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:50264212_50264215delAAAA	ENST00000561678.1	+	0	2814_2817				PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000357464.3_3'UTR|PAPD5_ENST00000436909.3_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5						histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TCCTAATAGGAAAAAAAAAAAAAA	0.412																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.*976AAAA>-	16.37:g.50264220_50264223delAAAA			B4DV38|Q9NW67|Q9Y6C0	RNA	DEL	-	NULL	ENST00000561678.1	37	NULL		16																																																																																			PAPD5	-	-	ENSG00000121274		0.412	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	PAPD5	HGNC	protein_coding	OTTHUMT00000423150.1		0.00	19	0	AAAA	NM_022447		50264215	+1	tier1		no_errors	ENST00000573002	ensembl	human	known	74_37	rna	28.57	10	4	DEL	0.053:0.065:0.065:0.056	-
PAQR9	344838	genome.wustl.edu	37	3	142681484	142681484	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:142681484C>T	ENST00000340634.3	-	1	694	c.695G>A	c.(694-696)cGt>cAt	p.R232H	RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	232						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CCAGTCGGTACGGCTCTTGCA	0.652																																																	0													59.0	55.0	56.0					3																	142681484		2203	4300	6503	SO:0001583	missense	0			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.695G>A	3.37:g.142681484C>T	ENSP00000341564:p.Arg232His		Q147T6	Missense_Mutation	SNP	pfam_HlyIII-related	p.R232H	ENST00000340634.3	37	c.695	CCDS3128.1	3	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027490	0.93518	.	.	ENSG00000188582	ENST00000340634	T	0.33216	1.42	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.79926	2.475	0.52501	D	0.999953	D	0.76494	0.999	D	0.72982	0.979	T	0.62034	-0.6939	10	0.51188	T	0.08	-37.0511	19.1774	0.93607	0.0:1.0:0.0:0.0	.	232	Q6ZVX9	PAQR9_HUMAN	H	232	ENSP00000341564:R232H	ENSP00000341564:R232H	R	-	2	0	PAQR9	144164174	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.550000	0.67268	2.595000	0.87683	0.655000	0.94253	CGT	PAQR9	-	pfam_HlyIII-related	ENSG00000188582		0.652	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR9	HGNC	protein_coding	OTTHUMT00000354538.1	-	0.00	39	0	C	NM_198504		142681484	-1	tier1	-	no_errors	ENST00000340634	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	T
PARP6	56965	genome.wustl.edu	37	15	72559896	72559896	+	5'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:72559896C>T	ENST00000569795.1	-	0	610				PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_5'UTR|CELF6_ENST00000569547.1_3'UTR|PARP6_ENST00000287196.9_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6								NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCAAGGCCAACGAGATGGGCA	0.572																																																	0													83.0	69.0	73.0					15																	72559896		688	1588	2276	SO:0001623	5_prime_UTR_variant	0			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.-78G>A	15.37:g.72559896C>T			Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	RNA	SNP	-	NULL	ENST00000569795.1	37	NULL	CCDS10241.2	15																																																																																			PARP6	-	-	ENSG00000137817		0.572	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	HGNC	protein_coding	OTTHUMT00000257315.2	-	0.00	28	0	C	NM_020214		72559896	-1	tier1	-	no_errors	ENST00000413097	ensembl	human	known	74_37	rna	14.29	36	6	SNP	0.009	T
PATZ1	23598	genome.wustl.edu	37	22	31737641	31737641	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:31737641G>A	ENST00000266269.5	-	2	1965				PATZ1_ENST00000215919.3_Missense_Mutation_p.P455L|PATZ1_ENST00000405309.3_Intron|PATZ1_ENST00000351933.4_Intron	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1						male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TTCCAGGGGCGGCAGGCCGCT	0.642																																																	0													46.0	51.0	49.0					22																	31737641		2203	4300	6503	SO:0001627	intron_variant	0			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1335+1241C>T	22.37:g.31737641G>A			Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P455L	ENST00000266269.5	37	c.1364	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150429	0.78001	.	.	ENSG00000100105	ENST00000215919	T	0.09723	2.95	5.19	5.19	0.71726	.	.	.	.	.	T	0.21674	0.0522	L	0.29908	0.895	0.36804	D	0.885495	D	0.76494	0.999	D	0.79108	0.992	T	0.02698	-1.1122	9	0.66056	D	0.02	.	14.0828	0.64937	0.0:0.0:1.0:0.0	.	455	Q9HBE1-4	.	L	455	ENSP00000215919:P455L	ENSP00000215919:P455L	P	-	2	0	PATZ1	30067641	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.876000	0.48498	2.705000	0.92388	0.655000	0.94253	CCG	PATZ1	-	NULL	ENSG00000100105		0.642	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1		0.00	33	0	G	NM_032052		31737641	-1			no_errors	ENST00000215919	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A
PAX1	5075	genome.wustl.edu	37	20	21687474	21687474	+	Missense_Mutation	SNP	G	G	A	rs147166433	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:21687474G>A	ENST00000398485.2	+	2	739	c.685G>A	c.(685-687)Gcg>Acg	p.A229T	PAX1_ENST00000444366.2_Missense_Mutation_p.A205T|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	229					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGCAGCCTGGCGCAGCCCGG	0.647																																																	0													40.0	46.0	44.0					20																	21687474		2203	4298	6501	SO:0001583	missense	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.685G>A	20.37:g.21687474G>A	ENSP00000381499:p.Ala229Thr		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.A229T	ENST00000398485.2	37	c.685	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776998	0.49786	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98313	-4.35;-4.86	5.19	4.18	0.49190	.	0.109657	0.64402	D	0.000005	D	0.91703	0.7377	N	0.04880	-0.145	0.35971	D	0.835339	B;B;P	0.35077	0.036;0.002;0.483	B;B;B	0.30943	0.01;0.002;0.122	D	0.91449	0.5180	10	0.30854	T	0.27	.	6.81	0.23799	0.0:0.199:0.4782:0.3229	.	205;135;229	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	T	229;205	ENSP00000381499:A229T;ENSP00000410355:A205T	ENSP00000381499:A229T	A	+	1	0	PAX1	21635474	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.536000	0.60636	2.423000	0.82170	0.462000	0.41574	GCG	PAX1	-	NULL	ENSG00000125813		0.647	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0.00	93	0	G			21687474	+1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	missense	15.66	70	13	SNP	1.000	A
PBRM1	55193	genome.wustl.edu	37	3	52678784	52678784	+	Frame_Shift_Del	DEL	T	T	-	rs369874660		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:52678784delT	ENST00000296302.7	-	8	836	c.835delA	c.(835-837)atafs	p.I279fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.I279fs			Q86U86	PB1_HUMAN	polybromo 1	279					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I279fs*4(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		atataaaatatttttttaatt	0.358			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	7	Deletion - Frameshift(7)	kidney(7)											41.0	41.0	41.0					3																	52678784		2200	4299	6499	SO:0001589	frameshift_variant	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.835delA	3.37:g.52678784delT	ENSP00000296302:p.Ile279fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.I279fs	ENST00000296302.7	37	c.835		3																																																																																			PBRM1	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000163939		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1		0.00	105	0	T	NM_018165		52678784	-1	tier1		no_errors	ENST00000296302	ensembl	human	known	74_37	frame_shift_del	19.15	76	18	DEL	1.000	-
PC	5091	genome.wustl.edu	37	11	66618621	66618621	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66618621A>G	ENST00000393958.2	-	16	2206	c.2113T>C	c.(2113-2115)Tca>Cca	p.S705P	PC_ENST00000393955.2_Missense_Mutation_p.S705P|PC_ENST00000393960.1_Missense_Mutation_p.S705P|PC_ENST00000528224.1_5'Flank|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	705	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCCGTGTATGAGATGGCAGCC	0.617																																																	0													76.0	71.0	73.0					11																	66618621		2200	4295	6495	SO:0001583	missense	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2113T>C	11.37:g.66618621A>G	ENSP00000377530:p.Ser705Pro		B4DN00|Q16705	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase	p.S705P	ENST00000393958.2	37	c.2113	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948147	0.73787	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98732	-5.1;-5.1;-5.1	4.52	4.52	0.55395	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99211	0.9726	M	0.93283	3.4	0.80722	D	1	D	0.57571	0.98	D	0.66979	0.948	D	0.99174	1.0865	10	0.87932	D	0	-23.7887	11.8757	0.52546	1.0:0.0:0.0:0.0	.	705	P11498	PYC_HUMAN	P	705	ENSP00000377527:S705P;ENSP00000377530:S705P;ENSP00000377532:S705P	ENSP00000377527:S705P	S	-	1	0	PC	66375197	1.000000	0.71417	0.998000	0.56505	0.583000	0.36354	3.719000	0.54926	1.909000	0.55274	0.533000	0.62120	TCA	PC	-	pfam_PYR_CT,pirsf_Pyruv_COase,pfscan_PYR_CT,tigrfam_Pyruv_COase	ENSG00000173599		0.617	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	-	0.00	120	0	A	NM_001040716		66618621	-1	tier1	-	no_errors	ENST00000393958	ensembl	human	known	74_37	missense	13.70	126	20	SNP	1.000	G
PCDHA11	56138	genome.wustl.edu	37	5	140249224	140249224	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140249224C>A	ENST00000398640.2	+	1	536	c.536C>A	c.(535-537)tCt>tAt	p.S179Y	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTATTTTTCTTTAGATTCA	0.378																																																	0													79.0	87.0	85.0					5																	140249224		2060	4221	6281	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.536C>A	5.37:g.140249224C>A	ENSP00000381636:p.Ser179Tyr		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S179Y	ENST00000398640.2	37	c.536	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678518	0.29783	.	.	ENSG00000249158	ENST00000398640	T	0.54071	0.59	5.71	4.66	0.58398	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.46054	0.1373	L	0.59912	1.85	0.09310	N	1	P;B	0.35745	0.518;0.149	B;B	0.29267	0.049;0.1	T	0.47381	-0.9122	9	0.56958	D	0.05	.	10.3201	0.43760	0.0:0.7981:0.0:0.2019	.	179;179	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	Y	179	ENSP00000381636:S179Y	ENSP00000381636:S179Y	S	+	2	0	PCDHA11	140229408	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	-1.440000	0.02412	2.707000	0.92482	0.655000	0.94253	TCT	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.378	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0.00	33	0	C	NM_018902		140249224	+1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.185	A
PCDHA12	56137	genome.wustl.edu	37	5	140256353	140256353	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140256353G>A	ENST00000398631.2	+	1	1296	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGGGCTCGCCTTCGCTGT	0.637																																					Pancreas(113;759 1672 13322 24104 50104)												0													140.0	146.0	144.0					5																	140256353		2203	4299	6502	SO:0001819	synonymous_variant	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1296G>A	5.37:g.140256353G>A			O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S432	ENST00000398631.2	37	c.1296	CCDS47285.1	5																																																																																			PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000251664		0.637	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0.00	140	0	G	NM_018903		140256353	+1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	silent	26.61	80	29	SNP	0.010	A
PCDHA2	56146	genome.wustl.edu	37	5	140175608	140175608	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140175608G>A	ENST00000526136.1	+	1	1059	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.T353T|PCDHA2_ENST00000378132.1_Silent_p.T353T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	353	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCAATAACGTCTCTCTCAC	0.458																																																	0													89.0	76.0	81.0					5																	140175608		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1059G>A	5.37:g.140175608G>A			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T353	ENST00000526136.1	37	c.1059	CCDS54914.1	5																																																																																			PCDHA2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000204969		0.458	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	-	0.00	36	0	G	NM_018905		140175608	+1	tier1	-	no_errors	ENST00000526136	ensembl	human	known	74_37	silent	34.85	43	23	SNP	0.229	A
PCDHA7	56141	genome.wustl.edu	37	5	140215581	140215581	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140215581G>A	ENST00000525929.1	+	1	1613	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R538H|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R538H(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGATGCGGGC	0.677																																					NSCLC(160;258 2013 5070 22440 28951)												2	Substitution - Missense(2)	endometrium(2)											76.0	84.0	81.0					5																	140215581		2202	4297	6499	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1613G>A	5.37:g.140215581G>A	ENSP00000436426:p.Arg538His		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R538H	ENST00000525929.1	37	c.1613	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240804	0.22711	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.54479	0.57;0.57	3.91	3.01	0.34805	Cadherin (5);Cadherin-like (1);	0.000000	0.31660	U	0.007279	T	0.38401	0.1039	L	0.50847	1.595	0.21719	N	0.999578	B;P	0.34800	0.299;0.469	B;B	0.32342	0.144;0.082	T	0.41627	-0.9498	10	0.59425	D	0.04	.	1.772	0.03013	0.1901:0.1468:0.4907:0.1724	.	538;538	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	H	538	ENSP00000436426:R538H;ENSP00000367365:R538H	ENSP00000367365:R538H	R	+	2	0	PCDHA7	140195765	0.000000	0.05858	1.000000	0.80357	0.380000	0.30137	-0.383000	0.07398	0.715000	0.32103	0.313000	0.20887	CGC	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204963		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0.00	167	0	G	NM_018910		140215581	+1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	30.13	109	47	SNP	0.988	A
PCDHA9	9752	genome.wustl.edu	37	5	140229589	140229589	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140229589G>A	ENST00000532602.1	+	1	2542	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S503S|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S503S(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCTCGCTGTCGAGCT	0.672																																					Melanoma(55;1800 1972 14909)												2	Substitution - coding silent(2)	breast(2)											61.0	67.0	65.0					5																	140229589		2196	4271	6467	SO:0001819	synonymous_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1509G>A	5.37:g.140229589G>A			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S503	ENST00000532602.1	37	c.1509	CCDS54920.1	5																																																																																			PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0.00	152	0	G	NM_031857		140229589	+1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	13.81	155	25	SNP	0.770	A
PCDHA12	56137	genome.wustl.edu	37	5	140255703	140255703	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140255703G>T	ENST00000398631.2	+	1	646	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTAATCGATGGCGGTAA	0.393																																					Pancreas(113;759 1672 13322 24104 50104)												0													84.0	82.0	83.0					5																	140255703		1872	4121	5993	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.646G>T	5.37:g.140255703G>T	ENSP00000381628:p.Asp216Tyr		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D216Y	ENST00000398631.2	37	c.646	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750331	0.49257	.	.	ENSG00000251664	ENST00000398631	T	0.68903	-0.36	5.07	3.26	0.37387	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.89763	0.6809	H	0.99911	4.935	0.34181	D	0.670945	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93273	0.6653	9	0.87932	D	0	.	11.3971	0.49849	0.1443:0.0:0.8557:0.0	.	216;216	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	Y	216	ENSP00000381628:D216Y	ENSP00000381628:D216Y	D	+	1	0	PCDHA12	140235887	1.000000	0.71417	0.005000	0.12908	0.692000	0.40212	4.081000	0.57627	0.516000	0.28340	0.591000	0.81541	GAT	PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000251664		0.393	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2		0.00	32	0	G	NM_018903		140255703	+1			no_errors	ENST00000398631	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.992	T
PCDHA12	56137	genome.wustl.edu	37	5	140256977	140256977	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140256977G>A	ENST00000398631.2	+	1	1920	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	640	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGAGGCGGACGCTCCGC	0.687																																					Pancreas(113;759 1672 13322 24104 50104)												0													162.0	152.0	156.0					5																	140256977		2203	4299	6502	SO:0001819	synonymous_variant	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1920G>A	5.37:g.140256977G>A			O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A640	ENST00000398631.2	37	c.1920	CCDS47285.1	5																																																																																			PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000251664		0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0.00	130	0	G	NM_018903		140256977	+1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	silent	33.62	77	39	SNP	0.000	A
PCDHAC2	56134	genome.wustl.edu	37	5	140347009	140347009	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140347009G>A	ENST00000289269.5	+	1	1190	c.658G>A	c.(658-660)Gca>Aca	p.A220T	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGAGCAGGCAGCCTTGCA	0.617																																					Melanoma(190;638 2083 3390 11909 52360)												0													47.0	43.0	44.0					5																	140347009		2203	4300	6503	SO:0001583	missense	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.658G>A	5.37:g.140347009G>A	ENSP00000289269:p.Ala220Thr		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A220T	ENST00000289269.5	37	c.658	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	G	7.127	0.579191	0.13686	.	.	ENSG00000243232	ENST00000289269	T	0.50001	0.76	5.44	2.43	0.29744	Cadherin (4);Cadherin-like (1);	0.171342	0.27932	N	0.017271	T	0.20373	0.0490	N	0.03967	-0.31	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.12344	-1.0551	10	0.34782	T	0.22	.	5.7269	0.18018	0.3419:0.1376:0.5204:0.0	.	220;220	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	T	220	ENSP00000289269:A220T	ENSP00000289269:A220T	A	+	1	0	PCDHAC2	140327193	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.163000	0.09997	0.594000	0.29761	0.561000	0.74099	GCA	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000243232		0.617	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	-	0.00	20	0	G	NM_018899		140347009	+1	tier1	-	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.001	A
PCDHB11	56125	genome.wustl.edu	37	5	140579984	140579984	+	Missense_Mutation	SNP	T	T	A	rs147919715		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140579984T>A	ENST00000354757.3	+	1	637	c.637T>A	c.(637-639)Tct>Act	p.S213T	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCATCCTCTCTGCTCTGGA	0.502																																																	0								A	THR/SER	0,4406		0,0,2203	78.0	80.0	79.0		637	1.5	0.0	5	dbSNP_134	79	2,8598	819.2+/-406.8	0,2,4298	no	missense	PCDHB11	NM_018931.2	58	0,2,6501	AA,AT,TT		0.0233,0.0,0.0154	benign	213/798	140579984	2,13004	2203	4300	6503	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.637T>A	5.37:g.140579984T>A	ENSP00000346802:p.Ser213Thr		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S213T	ENST00000354757.3	37	c.637	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	A	0.040	-1.290405	0.01387	0.0	2.33E-4	ENSG00000197479	ENST00000354757	T	0.18657	2.2	2.7	1.5	0.22942	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02267	0.0070	N	0.00020	-2.775	0.21499	N	0.999664	B	0.02656	0.0	B	0.04013	0.001	T	0.40098	-0.9581	9	0.02654	T	1	.	4.3608	0.11201	0.7217:0.0:0.1043:0.174	.	213	Q9Y5F2	PCDBB_HUMAN	T	213	ENSP00000346802:S213T	ENSP00000346802:S213T	S	+	1	0	PCDHB11	140560168	0.483000	0.25956	0.003000	0.11579	0.048000	0.14542	5.131000	0.64751	-0.086000	0.12550	-1.386000	0.01163	TCT	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197479		0.502	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1		0.00	46	0	T	NM_018931		140579984	+1			no_errors	ENST00000354757	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.039	A
PCDHB11	56125	genome.wustl.edu	37	5	140579998	140579998	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140579998T>C	ENST00000354757.3	+	1	651	c.651T>C	c.(649-651)ggT>ggC	p.G217G	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	217	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGGATGGTGGGTCCCCTC	0.507																																																	0													81.0	83.0	83.0					5																	140579998		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.651T>C	5.37:g.140579998T>C			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G217	ENST00000354757.3	37	c.651	CCDS4253.1	5																																																																																			PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197479		0.507	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1		0.00	55	0	T	NM_018931		140579998	+1			no_errors	ENST00000354757	ensembl	human	known	74_37	silent	19.44	28	7	SNP	0.342	C
PCDHB11	56125	genome.wustl.edu	37	5	140580049	140580049	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140580049C>T	ENST00000354757.3	+	1	702	c.702C>T	c.(700-702)gaC>gaT	p.D234D	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	234	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTTGTGGACATTAATGACA	0.507																																																	0													132.0	133.0	132.0					5																	140580049		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.702C>T	5.37:g.140580049C>T			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D234	ENST00000354757.3	37	c.702	CCDS4253.1	5																																																																																			PCDHB11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197479		0.507	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1		0.00	60	0	C	NM_018931		140580049	+1			no_errors	ENST00000354757	ensembl	human	known	74_37	silent	10.87	41	5	SNP	0.025	T
PCDHB11	56125	genome.wustl.edu	37	5	140580070	140580070	+	Silent	SNP	A	A	G	rs568326153		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140580070A>G	ENST00000354757.3	+	1	723	c.723A>G	c.(721-723)gaA>gaG	p.E241E	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	241	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCCCCTGAATTTGAGCAGG	0.488													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17624	0.0		0.0	False		,,,				2504	0.0																0													156.0	158.0	158.0					5																	140580070		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.723A>G	5.37:g.140580070A>G			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E241	ENST00000354757.3	37	c.723	CCDS4253.1	5																																																																																			PCDHB11	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197479		0.488	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	-	0.00	57	0	A	NM_018931		140580070	+1	tier1	-	no_errors	ENST00000354757	ensembl	human	known	74_37	silent	17.31	43	9	SNP	0.581	G
PCDHB13	56123	genome.wustl.edu	37	5	140595476	140595476	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140595476G>A	ENST00000341948.4	+	1	1968	c.1781G>A	c.(1780-1782)gGc>gAc	p.G594D		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGTGGACGGCGACTCGGGC	0.716																																																	0													6.0	8.0	8.0					5																	140595476		1675	3424	5099	SO:0001583	missense	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1781G>A	5.37:g.140595476G>A	ENSP00000345491:p.Gly594Asp		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G594D	ENST00000341948.4	37	c.1781	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	-	17.44	3.390147	0.61956	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.50548	0.74	3.3	-0.37	0.12530	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51975	0.1706	L	0.60957	1.885	0.24173	N	0.995615	P	0.51240	0.943	P	0.49597	0.616	T	0.52823	-0.8524	9	0.66056	D	0.02	.	13.3946	0.60843	0.0:0.6282:0.3717:0.0	.	594	Q9Y5F0	PCDBD_HUMAN	D	594;594;540	ENSP00000345491:G594D	ENSP00000345491:G594D	G	+	2	0	PCDHB13	140575660	0.000000	0.05858	0.994000	0.49952	0.976000	0.68499	0.350000	0.20079	0.025000	0.15241	0.298000	0.19748	GGC	PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000187372		0.716	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	-	0.00	93	0	G	NM_018933		140595476	+1	tier1	-	no_errors	ENST00000341948	ensembl	human	known	74_37	missense	9.30	117	12	SNP	0.849	A
PCDHB14	56122	genome.wustl.edu	37	5	140603942	140603942	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140603942C>T	ENST00000239449.4	+	1	865	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R136C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAGATATTCGTAAAACATT	0.378																																					Ovarian(141;50 1831 27899 33809 37648)												0													43.0	47.0	46.0					5																	140603942		2201	4300	6501	SO:0001583	missense	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.865C>T	5.37:g.140603942C>T	ENSP00000239449:p.Arg289Cys		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R289C	ENST00000239449.4	37	c.865	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	7.626	0.677922	0.14841	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.52983	0.64;0.64	4.75	0.286	0.15710	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47764	0.1463	M	0.89478	3.035	0.09310	N	1	B	0.27732	0.187	B	0.21546	0.035	T	0.48055	-0.9068	9	0.49607	T	0.09	.	4.3959	0.11363	0.2528:0.4394:0.2343:0.0735	.	289	Q9Y5E9	PCDBE_HUMAN	C	136;289	ENSP00000444518:R136C;ENSP00000239449:R289C	ENSP00000239449:R289C	R	+	1	0	PCDHB14	140584126	0.000000	0.05858	0.078000	0.20375	0.873000	0.50193	-0.821000	0.04452	0.109000	0.17891	0.655000	0.94253	CGT	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120327		0.378	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0.00	67	0	C	NM_018934		140603942	+1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	missense	25.00	48	16	SNP	0.000	T
PCDHB4	56131	genome.wustl.edu	37	5	140503443	140503443	+	Silent	SNP	C	C	T	rs17844416	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140503443C>T	ENST00000194152.1	+	1	1863	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACAATGGCGAGGTGCGCA	0.697																																																	0													28.0	28.0	28.0					5																	140503443		2051	4083	6134	SO:0001819	synonymous_variant	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1863C>T	5.37:g.140503443C>T			Q4V761	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G621	ENST00000194152.1	37	c.1863	CCDS4246.1	5																																																																																			PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081818		0.697	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0.00	142	0	C	NM_018938		140503443	+1	tier1	-	no_errors	ENST00000194152	ensembl	human	known	74_37	silent	34.00	99	51	SNP	1.000	T
PCDHB8	56128	genome.wustl.edu	37	5	140559488	140559488	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140559488G>A	ENST00000239444.2	+	1	2118	c.1873G>A	c.(1873-1875)Gtg>Atg	p.V625M	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGGCGAGGTGCGCACCGC	0.706																																																	0													16.0	19.0	18.0					5																	140559488		1939	3884	5823	SO:0001583	missense	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1873G>A	5.37:g.140559488G>A	ENSP00000239444:p.Val625Met		B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V625M	ENST00000239444.2	37	c.1873	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370579	0.61624	.	.	ENSG00000120322	ENST00000239444	T	0.55930	0.49	4.22	4.22	0.49857	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74168	0.3681	M	0.89163	3.01	0.33866	D	0.634398	D	0.89917	1.0	D	0.87578	0.998	T	0.83235	-0.0061	9	0.87932	D	0	.	10.0705	0.42330	0.0949:0.0:0.9051:0.0	.	625	Q9UN66	PCDB8_HUMAN	M	625	ENSP00000239444:V625M	ENSP00000239444:V625M	V	+	1	0	PCDHB8	140539672	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.487000	0.45268	1.915000	0.55452	0.298000	0.19748	GTG	PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120322		0.706	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0.00	211	0	G	NM_019120		140559488	+1	tier1	-	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	9.84	165	18	SNP	1.000	A
PCDHB14	56122	genome.wustl.edu	37	5	140604226	140604226	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140604226C>T	ENST00000239449.4	+	1	1149	c.1149C>T	c.(1147-1149)tgC>tgT	p.C383C	PCDHB14_ENST00000515856.2_Silent_p.C230C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	383	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATGATTTGCTCTATTCAAG	0.433																																					Ovarian(141;50 1831 27899 33809 37648)												0													107.0	112.0	110.0					5																	140604226		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1149C>T	5.37:g.140604226C>T			B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C383	ENST00000239449.4	37	c.1149	CCDS4256.1	5																																																																																			PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120327		0.433	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0.00	59	0	C	NM_018934		140604226	+1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	silent	13.79	50	8	SNP	0.985	T
PCDHGA1	56114	genome.wustl.edu	37	5	140710767	140710767	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140710767C>T	ENST00000517417.1	+	1	516	c.516C>T	c.(514-516)ctC>ctT	p.L172L	PCDHGA1_ENST00000378105.3_Silent_p.L172L|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	172	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L172L(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACCAACTCAGCTCTAACC	0.483																																																	2	Substitution - coding silent(2)	lung(2)											104.0	106.0	105.0					5																	140710767		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.516C>T	5.37:g.140710767C>T			Q2M273|Q9Y5D6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L172	ENST00000517417.1	37	c.516	CCDS54922.1	5																																																																																			PCDHGA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204956		0.483	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1		0.00	24	0	C	NM_018912		140710767	+1			no_errors	ENST00000517417	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.984	T
PCDHGA3	56112	genome.wustl.edu	37	5	140724854	140724854	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140724854T>A	ENST00000253812.6	+	1	1254	c.1254T>A	c.(1252-1254)taT>taA	p.Y418*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCAGAATATAACATTAGTC	0.458																																																	0													57.0	63.0	61.0					5																	140724854		1964	4159	6123	SO:0001587	stop_gained	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1254T>A	5.37:g.140724854T>A	ENSP00000253812:p.Tyr418*		Q9Y5D4	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y418*	ENST00000253812.6	37	c.1254	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	32	5.174431	0.94807	.	.	ENSG00000254245	ENST00000253812	.	.	.	5.35	2.92	0.33932	.	0.000000	0.30762	U	0.008939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0885	0.30786	0.0:0.2516:0.0:0.7484	.	.	.	.	X	418	.	ENSP00000253812:Y418X	Y	+	3	2	PCDHGA3	140705038	0.523000	0.26274	1.000000	0.80357	0.885000	0.51271	0.041000	0.13927	0.974000	0.38366	0.533000	0.62120	TAT	PCDHGA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254245		0.458	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	-	0.00	31	0	T	NM_018916		140724854	+1	tier1	-	no_errors	ENST00000253812	ensembl	human	known	74_37	nonsense	22.86	27	8	SNP	1.000	A
PCDHGA3	56112	genome.wustl.edu	37	5	140725964	140725964	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140725964C>T	ENST00000253812.6	+	1	2364	c.2364C>T	c.(2362-2364)agC>agT	p.S788S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	788					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGAAAAGCGAGCCTCTTC	0.458																																																	0													81.0	90.0	87.0					5																	140725964		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2364C>T	5.37:g.140725964C>T			Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S788	ENST00000253812.6	37	c.2364	CCDS47290.1	5																																																																																			PCDHGA3	-	NULL	ENSG00000254245		0.458	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	-	0.00	87	0	C	NM_018916		140725964	+1	tier1	-	no_errors	ENST00000253812	ensembl	human	known	74_37	silent	23.23	76	23	SNP	0.540	T
PCDHGB1	56104	genome.wustl.edu	37	5	140731905	140731905	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140731905C>T	ENST00000523390.1	+	1	2078	c.2078C>T	c.(2077-2079)gCc>gTc	p.A693V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	693					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCTTGGCCTTGATCTCA	0.597																																																	0													140.0	154.0	149.0					5																	140731905		2118	4218	6336	SO:0001583	missense	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2078C>T	5.37:g.140731905C>T	ENSP00000429273:p.Ala693Val		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A693V	ENST00000523390.1	37	c.2078	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	26.2	4.715099	0.89112	.	.	ENSG00000254221	ENST00000523390	T	0.38401	1.14	5.38	5.38	0.77491	.	.	.	.	.	T	0.68970	0.3059	M	0.91140	3.18	0.29688	N	0.841159	D;D	0.89917	1.0;0.997	D;P	0.71414	0.973;0.902	T	0.69442	-0.5144	9	0.45353	T	0.12	.	19.0897	0.93221	0.0:1.0:0.0:0.0	.	693;693	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	V	693	ENSP00000429273:A693V	ENSP00000429273:A693V	A	+	2	0	PCDHGB1	140712089	0.688000	0.27680	0.992000	0.48379	0.920000	0.55202	1.370000	0.34238	2.687000	0.91594	0.561000	0.74099	GCC	PCDHGB1	-	NULL	ENSG00000254221		0.597	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	-	0.00	44	0	C	NM_018922		140731905	+1	tier1	-	no_errors	ENST00000523390	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.999	T
PCDHGA4	56111	genome.wustl.edu	37	5	140735562	140735562	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140735562A>G	ENST00000571252.1	+	1	795	c.795A>G	c.(793-795)aaA>aaG	p.K265K	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCGTAAAAGCCACTGATC	0.468																																																	0													39.0	42.0	41.0					5																	140735562		2002	4169	6171	SO:0001819	synonymous_variant	0			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.795A>G	5.37:g.140735562A>G			Q9Y5D3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K265	ENST00000571252.1	37	c.795	CCDS58979.1	5																																																																																			PCDHGA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000262576		0.468	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	-	0.00	34	0	A	NM_018917		140735562	+1	tier1	-	no_errors	ENST00000571252	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.988	G
PCDHGB3	56102	genome.wustl.edu	37	5	140751606	140751606	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140751606C>T	ENST00000576222.1	+	1	1776	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCCTGCGCGTGTTGGT	0.677																																																	0													33.0	42.0	39.0					5																	140751606		2170	4271	6441	SO:0001583	missense	0			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1645C>T	5.37:g.140751606C>T	ENSP00000461862:p.Arg549Cys		A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R549C	ENST00000576222.1	37	c.1645	CCDS58980.1	5																																																																																			PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000262209		0.677	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1	-	0.00	128	0	C	NM_018924		140751606	+1	tier1	-	no_errors	ENST00000576222	ensembl	human	known	74_37	missense	25.69	81	28	SNP	0.159	T
PCDHGC3	5098	genome.wustl.edu	37	5	140856435	140856435	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140856435C>T	ENST00000308177.3	+	1	856	c.752C>T	c.(751-753)gCg>gTg	p.A251V	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	251	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTACCGGGCGCGCGTCCTG	0.597																																																	0													38.0	37.0	37.0					5																	140856435		2202	4298	6500	SO:0001583	missense	0			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.752C>T	5.37:g.140856435C>T	ENSP00000312070:p.Ala251Val		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A251V	ENST00000308177.3	37	c.752	CCDS4261.1	5	.	.	.	.	.	.	.	.	.	.	C	10.52	1.374361	0.24857	.	.	ENSG00000240184	ENST00000308177	T	0.52295	0.67	5.53	5.53	0.82687	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17492	0.0420	N	0.01515	-0.825	0.30660	N	0.754501	P;B	0.43909	0.821;0.034	B;B	0.37015	0.239;0.003	T	0.08432	-1.0722	9	0.02654	T	1	.	12.9026	0.58133	0.0:0.9266:0.0:0.0734	.	251;251	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	V	251	ENSP00000312070:A251V	ENSP00000312070:A251V	A	+	2	0	PCDHGC3	140836619	0.952000	0.32445	1.000000	0.80357	0.991000	0.79684	1.902000	0.39848	2.882000	0.98803	0.655000	0.94253	GCG	PCDHGC3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000240184		0.597	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2	-	0.00	32	0	C	NM_002588		140856435	+1	tier1	-	no_errors	ENST00000308177	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	T
PCDHGC5	56097	genome.wustl.edu	37	5	140870295	140870295	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140870295T>A	ENST00000252087.1	+	1	1488	c.1488T>A	c.(1486-1488)aaT>aaA	p.N496K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	496	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTAGGAAATCAGGTTCAGG	0.547																																																	0													94.0	99.0	98.0					5																	140870295		2203	4300	6503	SO:0001583	missense	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1488T>A	5.37:g.140870295T>A	ENSP00000252087:p.Asn496Lys		Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N496K	ENST00000252087.1	37	c.1488	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	T	5.781	0.328455	0.10956	.	.	ENSG00000240764	ENST00000252087	T	0.50813	0.73	5.56	-1.14	0.09741	Cadherin (4);Cadherin-like (1);	0.408437	0.23989	N	0.042592	T	0.28167	0.0695	L	0.29908	0.895	0.09310	N	1	B;B	0.25486	0.127;0.083	B;B	0.27170	0.047;0.077	T	0.16041	-1.0416	10	0.22109	T	0.4	.	6.2186	0.20669	0.1132:0.3357:0.0:0.5511	.	496;496	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	K	496	ENSP00000252087:N496K	ENSP00000252087:N496K	N	+	3	2	PCDHGC5	140850479	0.900000	0.30661	0.928000	0.36995	0.747000	0.42532	0.325000	0.19628	-0.310000	0.08766	-0.250000	0.11733	AAT	PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.547	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	-	0.00	37	0	T	NM_018929		140870295	+1	tier1	-	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.071	A
PCLO	27445	genome.wustl.edu	37	7	82578944	82578944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:82578944G>A	ENST00000333891.9	-	6	11297	c.10960C>T	c.(10960-10962)Cag>Tag	p.Q3654*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q374*|PCLO_ENST00000423517.2_Nonsense_Mutation_p.Q3654*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTACTTTCTGTGGACTTATA	0.473																																																	0													185.0	180.0	182.0					7																	82578944		1918	4121	6039	SO:0001587	stop_gained	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10960C>T	7.37:g.82578944G>A	ENSP00000334319:p.Gln3654*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.Q3654*	ENST00000333891.9	37	c.10960	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.448310	0.96205	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8309	0.96634	0.0:0.0:1.0:0.0	.	.	.	.	X	3585;3654;3654;374	.	ENSP00000334319:Q3654X	Q	-	1	0	PCLO	82416880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.470000	0.97683	2.684000	0.91462	0.650000	0.86243	CAG	PCLO	-	NULL	ENSG00000186472		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	66	0	G	NM_014510		82578944	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	28.95	54	22	SNP	1.000	A
PCNXL2	80003	genome.wustl.edu	37	1	233388513	233388513	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:233388513delT	ENST00000258229.9	-	6	2090	c.1856delA	c.(1855-1857)aagfs	p.K619fs	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	619						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATTTCCTCCTTTTTTTCCTG	0.373																																																	0													117.0	105.0	109.0					1																	233388513		1829	4083	5912	SO:0001589	frameshift_variant	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1856delA	1.37:g.233388513delT	ENSP00000258229:p.Lys619fs		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Frame_Shift_Del	DEL	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.K619fs	ENST00000258229.9	37	c.1856	CCDS44335.1	1																																																																																			PCNXL2	-	NULL	ENSG00000135749		0.373	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3		0.00	39	0	T	NM_014801		233388513	-1	tier1		no_errors	ENST00000258229	ensembl	human	known	74_37	frame_shift_del	20.00	36	9	DEL	1.000	-
PCOLCE	5118	genome.wustl.edu	37	7	100205580	100205580	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:100205580G>T	ENST00000223061.5	+	9	1484	c.1204G>T	c.(1204-1206)Ggc>Tgc	p.G402C		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	402	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTGCTGATGGGCCAGGTAGA	0.527																																																	0													85.0	87.0	86.0					7																	100205580		2203	4300	6503	SO:0001583	missense	0			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1204G>T	7.37:g.100205580G>T	ENSP00000223061:p.Gly402Cys		B2R9E1|O14550	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.G402C	ENST00000223061.5	37	c.1204	CCDS5700.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085721	0.76642	.	.	ENSG00000106333	ENST00000223061	T	0.65732	-0.17	5.04	4.16	0.48862	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.125664	0.53938	D	0.000056	T	0.75917	0.3915	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77667	-0.2502	10	0.87932	D	0	-15.4764	10.9046	0.47073	0.092:0.0:0.9079:0.0	.	402	Q15113	PCOC1_HUMAN	C	402	ENSP00000223061:G402C	ENSP00000223061:G402C	G	+	1	0	PCOLCE	100043516	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.176000	0.65026	1.115000	0.41800	0.462000	0.41574	GGC	PCOLCE	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain	ENSG00000106333		0.527	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	HGNC	protein_coding	OTTHUMT00000345285.1	-	0.00	82	0	G	NM_002593		100205580	+1	tier1	-	no_errors	ENST00000223061	ensembl	human	known	74_37	missense	23.53	52	16	SNP	1.000	T
PCSK2	5126	genome.wustl.edu	37	20	17434447	17434447	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:17434447G>T	ENST00000262545.2	+	9	1261	c.946G>T	c.(946-948)Gac>Tac	p.D316Y	PCSK2_ENST00000377899.1_Missense_Mutation_p.D297Y|PCSK2_ENST00000536609.1_Missense_Mutation_p.D281Y	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	316	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGCTATGACGACTGCAACTG	0.652																																																	0													109.0	82.0	91.0					20																	17434447		2203	4300	6503	SO:0001583	missense	0			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.946G>T	20.37:g.17434447G>T	ENSP00000262545:p.Asp316Tyr		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.D316Y	ENST00000262545.2	37	c.946	CCDS13125.1	20	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158646	0.78226	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.88201	-2.35;-2.35;-2.35	5.69	4.75	0.60458	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.93429	0.7904	M	0.75447	2.3	0.80722	D	1	D;B	0.89917	1.0;0.378	D;P	0.97110	1.0;0.498	D	0.92711	0.6183	10	0.38643	T	0.18	-45.2998	13.3285	0.60473	0.0763:0.0:0.9237:0.0	.	281;316	B4DFQ3;P16519	.;NEC2_HUMAN	Y	297;316;281	ENSP00000367131:D297Y;ENSP00000262545:D316Y;ENSP00000437458:D281Y	ENSP00000262545:D316Y	D	+	1	0	PCSK2	17382447	1.000000	0.71417	0.923000	0.36655	0.611000	0.37282	7.998000	0.88491	1.420000	0.47138	0.655000	0.94253	GAC	PCSK2	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000125851		0.652	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	HGNC	protein_coding	OTTHUMT00000078120.2	-	0.00	112	0	G	NM_002594		17434447	+1	tier1	-	no_errors	ENST00000262545	ensembl	human	known	74_37	missense	9.88	73	8	SNP	1.000	T
PCYOX1L	78991	genome.wustl.edu	37	5	148747925	148747925	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:148747925delC	ENST00000274569.4	+	6	1255	c.1193delC	c.(1192-1194)tccfs	p.S398fs	PCYOX1L_ENST00000514349.1_Frame_Shift_Del_p.S308fs	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	398					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)	p.S398F(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGTCCAGTCCCCCAAGCCC	0.597											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)												1	Substitution - Missense(1)	prostate(1)											87.0	92.0	90.0					5																	148747925		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1193delC	5.37:g.148747925delC	ENSP00000274569:p.Ser398fs	1719	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Frame_Shift_Del	DEL	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	p.K400fs	ENST00000274569.4	37	c.1193	CCDS4296.1	5																																																																																			PCYOX1L	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	ENSG00000145882		0.597	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1L	HGNC	protein_coding	OTTHUMT00000252331.2		0.00	130	0	C	NM_024028		148747925	+1	tier1		no_errors	ENST00000274569	ensembl	human	known	74_37	frame_shift_del	11.93	96	13	DEL	1.000	-
PCYT1A	5130	genome.wustl.edu	37	3	195974305	195974305	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:195974305C>T	ENST00000292823.2	-	6	591	c.419G>A	c.(418-420)cGc>cAc	p.R140H	PCYT1A_ENST00000491544.1_5'Flank|PCYT1A_ENST00000431016.1_Missense_Mutation_p.R140H|PCYT1A_ENST00000419333.1_Missense_Mutation_p.R140H	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	140					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	ATCCACGTAGCGGCAGTGCTG	0.537																																																	0													214.0	175.0	188.0					3																	195974305		2203	4300	6503	SO:0001583	missense	0			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.419G>A	3.37:g.195974305C>T	ENSP00000292823:p.Arg140His		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	pfam_Cyt_trans-like,superfamily_NA-bd_OB-fold,tigrfam_Cyt_trans-like	p.R140H	ENST00000292823.2	37	c.419	CCDS3315.1	3	.	.	.	.	.	.	.	.	.	.	c	35	5.584559	0.96578	.	.	ENSG00000161217	ENST00000441879;ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	D;D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14	5.58	5.58	0.84498	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	-36.5674	18.6225	0.91326	0.0:1.0:0.0:0.0	.	140	P49585	PCY1A_HUMAN	H	140;140;140;101;140;140;13;74	ENSP00000392397:R140H;ENSP00000390968:R140H;ENSP00000292823:R140H;ENSP00000394617:R140H;ENSP00000400430:R140H;ENSP00000390458:R13H;ENSP00000402283:R74H	ENSP00000292823:R140H	R	-	2	0	PCYT1A	197458702	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.485000	0.81204	2.634000	0.89283	0.645000	0.84053	CGC	PCYT1A	-	pfam_Cyt_trans-like,tigrfam_Cyt_trans-like	ENSG00000161217		0.537	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1A	HGNC	protein_coding	OTTHUMT00000341147.1	-	0.00	59	0	C	NM_005017		195974305	-1	tier1	-	no_errors	ENST00000292823	ensembl	human	known	74_37	missense	19.23	42	10	SNP	1.000	T
PDCD1	5133	genome.wustl.edu	37	2	242795103	242795104	+	Frame_Shift_Ins	INS	-	-	G	rs373081859|rs41444844	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:242795103_242795104insG	ENST00000334409.5	-	2	174_175	c.105_106insC	c.(103-108)cccaccfs	p.T36fs		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	36	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGGGAGAAGGTGGGGGGGTTCC	0.634																																																	0																																										SO:0001589	frameshift_variant	0			AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.106dupC	2.37:g.242795110_242795110dupG	ENSP00000335062:p.Thr36fs		O00517|Q8IX89	Frame_Shift_Ins	INS	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.T35fs	ENST00000334409.5	37	c.106_105	CCDS33428.1	2																																																																																			PDCD1	-	pfscan_Ig-like_dom	ENSG00000188389		0.634	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1	HGNC	protein_coding	OTTHUMT00000322313.1		0.00	57	0	-	NM_005018		242795104	-1	tier1		no_errors	ENST00000334409	ensembl	human	known	74_37	frame_shift_ins	18.97	47	11	INS	0.986:0.990	G
PDCD10	11235	genome.wustl.edu	37	3	167437900	167437900	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:167437900A>T	ENST00000392750.2	-	3	463	c.46T>A	c.(46-48)Tcc>Acc	p.S16T	PDCD10_ENST00000470131.1_Missense_Mutation_p.S16T|PDCD10_ENST00000461494.1_Missense_Mutation_p.S16T|PDCD10_ENST00000471885.1_Missense_Mutation_p.S16T|PDCD10_ENST00000487947.2_Missense_Mutation_p.S16T|PDCD10_ENST00000497056.2_Missense_Mutation_p.S16T|PDCD10_ENST00000473645.2_Missense_Mutation_p.S16T|PDCD10_ENST00000487678.1_5'Flank|PDCD10_ENST00000492396.1_Intron	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	16					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						GAAACCATGGATGTGGTCTCA	0.398																																																	0													265.0	249.0	254.0					3																	167437900		2203	4300	6503	SO:0001583	missense	0			AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.46T>A	3.37:g.167437900A>T	ENSP00000376506:p.Ser16Thr		A8K515|D3DNN5|O14811	Missense_Mutation	SNP	pfam_DUF1241	p.S16T	ENST00000392750.2	37	c.46	CCDS3202.1	3	.	.	.	.	.	.	.	.	.	.	A	10.54	1.377955	0.24944	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139;ENST00000464360	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	N	0.20986	0.625	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.08827	-1.0703	10	0.22109	T	0.4	-2.5826	15.3933	0.74767	1.0:0.0:0.0:0.0	.	16	Q9BUL8	PDC10_HUMAN	T	16	ENSP00000376506:S16T;ENSP00000418317:S16T;ENSP00000420553:S16T;ENSP00000420021:S16T;ENSP00000417202:S16T;ENSP00000417118:S16T;ENSP00000420266:S16T;ENSP00000417876:S16T;ENSP00000420424:S16T;ENSP00000420014:S16T;ENSP00000418160:S16T	ENSP00000376506:S16T	S	-	1	0	PDCD10	168920594	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.916000	0.92745	2.371000	0.80710	0.533000	0.62120	TCC	PDCD10	-	pfam_DUF1241	ENSG00000114209		0.398	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD10	HGNC	protein_coding	OTTHUMT00000350966.2	-	0.00	87	0	A	NM_007217		167437900	-1	tier1	-	no_errors	ENST00000392750	ensembl	human	known	74_37	missense	26.23	45	16	SNP	1.000	T
PDCD11	22984	genome.wustl.edu	37	10	105200521	105200521	+	Missense_Mutation	SNP	G	G	A	rs542819088	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:105200521G>A	ENST00000369797.3	+	30	4565	c.4471G>A	c.(4471-4473)Ggc>Agc	p.G1491S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1491					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AAAGAAAGCCGGCCTGTCAGA	0.602													G|||	3	0.000599042	0.0	0.0	5008	,	,		17921	0.0		0.0	False		,,,				2504	0.0031																0													112.0	100.0	104.0					10																	105200521		2203	4300	6503	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4471G>A	10.37:g.105200521G>A	ENSP00000358812:p.Gly1491Ser		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.G1491S	ENST00000369797.3	37	c.4471	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	G	9.118	1.008301	0.19199	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.09163	3.01	5.43	-0.41	0.12374	.	1.262890	0.04756	N	0.425450	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.36432	-0.9748	10	0.08179	T	0.78	-0.2734	1.1336	0.01750	0.2662:0.1895:0.4028:0.1414	.	1491	Q14690	RRP5_HUMAN	S	1491;1149	ENSP00000358812:G1491S	ENSP00000358812:G1491S	G	+	1	0	PDCD11	105190511	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.217000	0.09253	0.087000	0.17167	-0.918000	0.02743	GGC	PDCD11	-	NULL	ENSG00000148843		0.602	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	-	0.00	47	0	G			105200521	+1	tier1	-	no_errors	ENST00000369797	ensembl	human	known	74_37	missense	25.49	38	13	SNP	0.000	A
PDE3B	5140	genome.wustl.edu	37	11	14810530	14810531	+	Intron	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:14810530_14810531insT	ENST00000282096.4	+	4	1631				PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TAAAATGTTTCTTTTTTCTCTG	0.267																																																	0																																										SO:0001627	intron_variant	0			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1279-121->T	11.37:g.14810536_14810536dupT			B7ZM37|O00639|Q14408|Q6SEI4	RNA	INS	-	NULL	ENST00000282096.4	37	NULL	CCDS7817.1	11																																																																																			PDE3B	-	-	ENSG00000152270		0.267	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	HGNC	protein_coding	OTTHUMT00000386974.1		0.00	37	0	-	NM_000922		14810531	+1	tier1		no_errors	ENST00000525439	ensembl	human	known	74_37	rna	34.29	23	12	INS	0.001:0.000	T
PDE4A	5141	genome.wustl.edu	37	19	10578271	10578271	+	Frame_Shift_Del	DEL	G	G	-	rs200139989		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10578271delG	ENST00000352831.6	+	15	2745	c.2635delG	c.(2635-2637)gggfs	p.G880fs	PDE4A_ENST00000592685.1_Frame_Shift_Del_p.G858fs|PDE4A_ENST00000440014.2_Frame_Shift_Del_p.G819fs|PDE4A_ENST00000380702.2_Frame_Shift_Del_p.G858fs|PDE4A_ENST00000293683.5_Frame_Shift_Del_p.G854fs|PDE4A_ENST00000344979.3_Frame_Shift_Del_p.G641fs	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	880					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TCCTGGTGGCGGGGGGTCAGG	0.667																																																	0													37.0	39.0	39.0					19																	10578271		2090	4120	6210	SO:0001589	frameshift_variant	0				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2635delG	19.37:g.10578271delG	ENSP00000270474:p.Gly880fs		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Frame_Shift_Del	DEL	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.S881fs	ENST00000352831.6	37	c.2635	CCDS45961.1	19																																																																																			PDE4A	-	NULL	ENSG00000065989		0.667	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1		0.00	43	0	G			10578271	+1	tier1		no_errors	ENST00000352831	ensembl	human	known	74_37	frame_shift_del	12.77	41	6	DEL	0.000	-
PDE4DIP	9659	genome.wustl.edu	37	1	145075830	145075830	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:145075830G>T	ENST00000530740.1	-	1	71	c.33C>A	c.(31-33)cgC>cgA	p.R11R	PDE4DIP_ENST00000369359.4_Silent_p.R11R|PDE4DIP_ENST00000369348.3_Silent_p.R11R|PDE4DIP_ENST00000369345.4_Silent_p.R11R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGCATCGGCGGCGGCAGCAGG	0.672			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													39.0	48.0	45.0					1																	145075830		2171	4270	6441	SO:0001819	synonymous_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.33C>A	1.37:g.145075830G>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc	p.R11	ENST00000530740.1	37	c.33		1																																																																																			PDE4DIP	-	NULL	ENSG00000178104		0.672	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000384663.2	-	0.00	154	0	G	NM_022359		145075830	-1	tier1	-	no_errors	ENST00000369348	ensembl	human	known	74_37	silent	8.55	107	10	SNP	0.993	T
PDE5A	8654	genome.wustl.edu	37	4	120528330	120528330	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:120528330C>T	ENST00000354960.3	-	2	594	c.275G>A	c.(274-276)aGt>aAt	p.S92N	PDE5A_ENST00000394439.1_Missense_Mutation_p.S40N|PDE5A_ENST00000264805.5_Missense_Mutation_p.S50N	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	92					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TCCAGGGGCACTGTTATCTGC	0.522																																																	0													91.0	89.0	90.0					4																	120528330		2203	4300	6503	SO:0001583	missense	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.275G>A	4.37:g.120528330C>T	ENSP00000347046:p.Ser92Asn		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.S92N	ENST00000354960.3	37	c.275	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161791	0.38217	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.64	3.85	0.44370	.	0.226336	0.37393	N	0.002104	T	0.09202	0.0227	L	0.39898	1.24	0.20074	N	0.999937	B;B	0.12630	0.006;0.004	B;B	0.15052	0.005;0.012	T	0.18808	-1.0325	10	0.52906	T	0.07	.	14.536	0.67960	0.0:0.3922:0.6078:0.0	.	92;50	O76074;O76074-2	PDE5A_HUMAN;.	N	92;40;50;40	ENSP00000347046:S92N;ENSP00000377957:S40N;ENSP00000264805:S50N;ENSP00000416309:S40N	ENSP00000264805:S50N	S	-	2	0	PDE5A	120747778	1.000000	0.71417	0.067000	0.19924	0.997000	0.91878	3.552000	0.53705	1.345000	0.45676	0.655000	0.94253	AGT	PDE5A	-	NULL	ENSG00000138735		0.522	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	-	0.00	62	0	C	NM_001083		120528330	-1	tier1	-	no_errors	ENST00000354960	ensembl	human	known	74_37	missense	9.09	60	6	SNP	0.559	T
PDE9A	5152	genome.wustl.edu	37	21	44190872	44190872	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:44190872C>T	ENST00000291539.6	+	18	1710	c.1650C>T	c.(1648-1650)taC>taT	p.Y550Y	PDE9A_ENST00000398225.3_Silent_p.Y509Y|PDE9A_ENST00000398232.3_Silent_p.Y483Y|PDE9A_ENST00000398227.3_Silent_p.Y390Y|PDE9A_ENST00000328862.6_Silent_p.Y524Y|PDE9A_ENST00000539837.1_Silent_p.Y422Y|PDE9A_ENST00000398224.3_Silent_p.Y423Y|PDE9A_ENST00000398229.3_Silent_p.Y416Y|PDE9A_ENST00000398236.3_Silent_p.Y464Y|PDE9A_ENST00000335440.6_Silent_p.Y448Y|PDE9A_ENST00000335512.4_Silent_p.Y490Y|PDE9A_ENST00000380328.2_Silent_p.Y497Y|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398234.3_Silent_p.Y449Y|PDE9A_ENST00000349112.3_Silent_p.Y422Y	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	550	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GAGATCGCTACGAGGAGCTGA	0.552																																																	0													143.0	114.0	124.0					21																	44190872		2203	4300	6503	SO:0001819	synonymous_variant	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1650C>T	21.37:g.44190872C>T			B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.Y550	ENST00000291539.6	37	c.1650	CCDS13690.1	21																																																																																			PDE9A	-	NULL	ENSG00000160191		0.552	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	-	0.00	24	0	C			44190872	+1	tier1	-	no_errors	ENST00000291539	ensembl	human	known	74_37	silent	38.10	13	8	SNP	1.000	T
PDE9A	5152	genome.wustl.edu	37	21	44195538	44195539	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:44195538_44195539delAA	ENST00000291539.6	+	0	1977_1978				PDE9A_ENST00000398225.3_3'UTR|PDE9A_ENST00000398232.3_3'UTR|PDE9A_ENST00000398227.3_3'UTR|PDE9A_ENST00000328862.6_3'UTR|PDE9A_ENST00000539837.1_3'UTR|PDE9A_ENST00000398224.3_3'UTR|PDE9A_ENST00000398229.3_3'UTR|PDE9A_ENST00000398236.3_3'UTR|PDE9A_ENST00000335440.6_3'UTR|PDE9A_ENST00000335512.4_3'UTR|PDE9A_ENST00000380328.2_3'UTR|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398234.3_3'UTR|PDE9A_ENST00000349112.3_3'UTR	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TCACTGATACAAAAAAAAAAAA	0.396																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.*136AA>-	21.37:g.44195548_44195549delAA			B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	RNA	DEL	-	NULL	ENST00000291539.6	37	NULL	CCDS13690.1	21																																																																																			PDE9A	-	-	ENSG00000160191		0.396	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1		0.00	32	0	AA			44195539	+1	tier1		no_errors	ENST00000460989	ensembl	human	known	74_37	rna	25.00	15	5	DEL	0.000:0.000	-
PDGFB	5155	genome.wustl.edu	37	22	39626130	39626130	+	Missense_Mutation	SNP	C	C	T	rs146204796	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:39626130C>T	ENST00000331163.6	-	5	1347	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	PDGFB_ENST00000381551.4_Missense_Mutation_p.R172Q	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	187					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GGTCACAGGCCGTGCAGCTGC	0.617			T	COL1A1	DFSP								C|||	2	0.000399361	0.0015	0.0	5008	,	,		14595	0.0		0.0	False		,,,				2504	0.0							Dom	yes		22	22q12.3-q13.1	5155	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)		M	0								C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	59.0	59.0	59.0		560,515	3.6	0.1	22	dbSNP_134	59	0,8600		0,0,4300	no	missense,missense	PDGFB	NM_002608.2,NM_033016.2	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	187/242,172/227	39626130	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.560G>A	22.37:g.39626130C>T	ENSP00000330382:p.Arg187Gln		G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Missense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.R187Q	ENST00000331163.6	37	c.560	CCDS13987.1	22	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.17	3.565045	0.65651	4.54E-4	0.0	ENSG00000100311	ENST00000331163;ENST00000381551	T;T	0.44083	0.93;0.94	4.65	3.61	0.41365	.	3.738860	0.02873	U	0.131873	T	0.24470	0.0593	N	0.19112	0.55	0.09310	N	0.999994	P;P	0.39352	0.513;0.669	B;B	0.25291	0.033;0.059	T	0.15694	-1.0428	10	0.27785	T	0.31	-19.4671	6.2833	0.21019	0.0:0.6893:0.2081:0.1026	.	187;172	P01127;G3XAG8	PDGFB_HUMAN;.	Q	187;172	ENSP00000330382:R187Q;ENSP00000370963:R172Q	ENSP00000330382:R187Q	R	-	2	0	PDGFB	37956076	0.004000	0.15560	0.133000	0.22050	0.721000	0.41392	0.282000	0.18829	2.308000	0.77769	0.561000	0.74099	CGG	PDGFB	-	NULL	ENSG00000100311		0.617	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFB	HGNC	protein_coding	OTTHUMT00000321043.1		0.00	80	0	C	NM_002608		39626130	-1			no_errors	ENST00000331163	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.101	T
PDIA4	9601	genome.wustl.edu	37	7	148702314	148702314	+	Missense_Mutation	SNP	C	C	T	rs369276090		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:148702314C>T	ENST00000286091.4	-	9	1673	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	481					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TTCCCACTCTCGTCCAGGATG	0.582											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	LYS/GLU	0,4406		0,0,2203	206.0	175.0	185.0		1441	5.6	1.0	7		185	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDIA4	NM_004911.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	481/646	148702314	1,13005	2203	4300	6503	SO:0001583	missense	0			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1441G>A	7.37:g.148702314C>T	ENSP00000286091:p.Glu481Lys	1719	A8K4K6|Q549T6	Missense_Mutation	SNP	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.E481K	ENST00000286091.4	37	c.1441	CCDS5893.1	7	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495964	0.64186	0.0	1.16E-4	ENSG00000155660	ENST00000286091	T	0.13657	2.57	5.57	5.57	0.84162	Thioredoxin-like fold (1);	0.102510	0.64402	D	0.000003	T	0.16300	0.0392	L	0.46157	1.445	0.58432	D	0.999999	B	0.21225	0.053	B	0.17098	0.017	T	0.03898	-1.0994	10	0.27785	T	0.31	.	19.54	0.95270	0.0:1.0:0.0:0.0	.	481	P13667	PDIA4_HUMAN	K	481	ENSP00000286091:E481K	ENSP00000286091:E481K	E	-	1	0	PDIA4	148333247	1.000000	0.71417	0.958000	0.39756	0.959000	0.62525	7.542000	0.82095	2.618000	0.88619	0.655000	0.94253	GAG	PDIA4	-	pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000155660		0.582	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1	-	0.00	47	0	C	NM_004911		148702314	-1	tier1	-	no_errors	ENST00000286091	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	T
PDLIM2	64236	genome.wustl.edu	37	8	22442382	22442382	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:22442382A>T	ENST00000397760.4	+	4	694	c.294A>T	c.(292-294)gaA>gaT	p.E98D	PDLIM2_ENST00000409417.1_Missense_Mutation_p.E98D|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000339162.7_Missense_Mutation_p.E98D|PDLIM2_ENST00000308354.7_Missense_Mutation_p.E348D|PDLIM2_ENST00000265810.4_Missense_Mutation_p.E98D|PDLIM2_ENST00000397761.2_Missense_Mutation_p.E98D|PDLIM2_ENST00000409141.1_Missense_Mutation_p.E98D			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	98						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCTCCTTGGAAGTGCTGGCGA	0.632																																																	0													133.0	104.0	114.0					8																	22442382		2203	4300	6503	SO:0001583	missense	0			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.294A>T	8.37:g.22442382A>T	ENSP00000380867:p.Glu98Asp		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E348D	ENST00000397760.4	37	c.1044		8	.	.	.	.	.	.	.	.	.	.	A	14.23	2.472054	0.43942	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000381194;ENST00000397761;ENST00000436754;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	T;T;T;T;T;T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.07	-4.5	0.03493	.	0.286276	0.31519	N	0.007514	T	0.06600	0.0169	L	0.45581	1.43	0.33369	D	0.573372	B;B;B;B	0.24043	0.016;0.096;0.004;0.009	B;B;B;B	0.22152	0.024;0.038;0.007;0.011	T	0.29941	-0.9995	10	0.20046	T	0.44	-9.003	5.6323	0.17518	0.3233:0.2947:0.382:0.0	.	98;98;98;98	Q96JY6-3;Q96JY6-4;Q96JY6;C9JS55	.;.;PDLI2_HUMAN;.	D	98;348;98;98;98;98;98;98;98;98;98;98;98	ENSP00000401992:E98D;ENSP00000312634:E348D;ENSP00000394376:E98D;ENSP00000380867:E98D;ENSP00000342035:E98D;ENSP00000380868:E98D;ENSP00000397738:E98D;ENSP00000392920:E98D;ENSP00000407643:E98D;ENSP00000386868:E98D;ENSP00000265810:E98D;ENSP00000387084:E98D	ENSP00000265810:E98D	E	+	3	2	PDLIM2	22498327	0.029000	0.19370	0.942000	0.38095	0.682000	0.39822	-0.550000	0.06034	-0.549000	0.06191	-0.326000	0.08463	GAA	PDLIM2	-	NULL	ENSG00000120913		0.632	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1	-	0.00	69	0	A			22442382	+1	tier1	-	no_errors	ENST00000308354	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.846	T
PDLIM5	10611	genome.wustl.edu	37	4	95377669	95377669	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:95377669delT	ENST00000317968.4	+	2	232				PDLIM5_ENST00000359265.4_Frame_Shift_Del_p.L124fs|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000508216.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5						regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		tatactttgcttttttttgca	0.393																																																	0																																										SO:0001627	intron_variant	0			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.96+1134T>-	4.37:g.95377669delT			A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Frame_Shift_Del	DEL	NULL	p.F126fs	ENST00000317968.4	37	c.371	CCDS3641.1	4																																																																																			PDLIM5	-	NULL	ENSG00000163110		0.393	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1		0.00	23	0	T			95377669	+1	tier1		no_errors	ENST00000359265	ensembl	human	putative	74_37	frame_shift_del	55.56	8	10	DEL	0.000	-
PDZD2	23037	genome.wustl.edu	37	5	31983543	31983543	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:31983543C>T	ENST00000438447.1	+	3	1147	c.759C>T	c.(757-759)ggC>ggT	p.G253G	PDZD2_ENST00000282493.3_Silent_p.G253G			O15018	PDZD2_HUMAN	PDZ domain containing 2	253					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGAGAACGGCCCTGACCCTG	0.582																																																	0													64.0	64.0	64.0					5																	31983543		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.759C>T	5.37:g.31983543C>T			Q9BXD4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G253	ENST00000438447.1	37	c.759	CCDS34137.1	5																																																																																			PDZD2	-	NULL	ENSG00000133401		0.582	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0.00	56	0	C			31983543	+1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	silent	21.31	47	13	SNP	0.984	T
PDLIM7	9260	genome.wustl.edu	37	5	176918059	176918059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:176918059G>A	ENST00000355841.2	-	6	553	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	PDLIM7_ENST00000356618.4_Nonsense_Mutation_p.Q163*|PDLIM7_ENST00000359895.2_Nonsense_Mutation_p.Q129*|PDLIM7_ENST00000393551.1_Nonsense_Mutation_p.Q163*|PDLIM7_ENST00000355572.2_Nonsense_Mutation_p.Q163*	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	163					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACGCGACTGGCCTGTCCCC	0.682																																																	0													21.0	25.0	24.0					5																	176918059		2200	4299	6499	SO:0001587	stop_gained	0			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.487C>T	5.37:g.176918059G>A	ENSP00000348099:p.Gln163*		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Nonsense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.Q163*	ENST00000355841.2	37	c.487	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511726	0.44660	.	.	ENSG00000196923	ENST00000359895;ENST00000356618;ENST00000355841;ENST00000393551;ENST00000505074;ENST00000355572;ENST00000393546;ENST00000506161	.	.	.	4.34	3.47	0.39725	.	0.000000	0.42682	D	0.000663	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	11.9018	0.52688	0.0852:0.0:0.9147:0.0	.	.	.	.	X	129;163;163;163;163;163;180;163	.	ENSP00000347776:Q163X	Q	-	1	0	PDLIM7	176850665	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	7.378000	0.79679	0.825000	0.34637	0.467000	0.42956	CAG	PDLIM7	-	NULL	ENSG00000196923		0.682	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	-	0.00	48	0	G	NM_005451		176918059	-1	tier1	-	no_errors	ENST00000355841	ensembl	human	known	74_37	nonsense	20.00	44	11	SNP	1.000	A
PDZRN3	23024	genome.wustl.edu	37	3	73673854	73673854	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:73673854G>A	ENST00000263666.4	-	1	237	c.123C>T	c.(121-123)tgC>tgT	p.C41C	PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3-AS1_ENST00000608304.1_RNA|PDZRN3-AS1_ENST00000478988.1_RNA|PDZRN3_ENST00000308537.4_Silent_p.C41C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	41					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGGCAGCACGCAGCCGGCGC	0.711																																																	0													6.0	6.0	6.0					3																	73673854		2129	4175	6304	SO:0001819	synonymous_variant	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.123C>T	3.37:g.73673854G>A			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.C41	ENST00000263666.4	37	c.123	CCDS33789.1	3																																																																																			PDZRN3	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000121440		0.711	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0.00	29	0	G	XM_041363		73673854	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	silent	15.62	27	5	SNP	1.000	A
PEAK1	79834	genome.wustl.edu	37	15	77407253	77407253	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:77407253G>A	ENST00000560626.2	-	7	4961	c.4486C>T	c.(4486-4488)Ctg>Ttg	p.L1496L	PEAK1_ENST00000312493.4_Silent_p.L1496L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGTAAGAGCAGCAGACACACC	0.527																																																	0													62.0	65.0	64.0					15																	77407253		2075	4199	6274	SO:0001819	synonymous_variant	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4486C>T	15.37:g.77407253G>A			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.L1496	ENST00000560626.2	37	c.4486	CCDS42062.1	15																																																																																			PEAK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000173517		0.527	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	HGNC	protein_coding	OTTHUMT00000419483.3		0.00	42	0	G			77407253	-1			no_errors	ENST00000312493	ensembl	human	known	74_37	silent	6.98	40	3	SNP	1.000	A
PEAK1	79834	genome.wustl.edu	37	15	77472838	77472838	+	Silent	SNP	G	G	A	rs374860881	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:77472838G>A	ENST00000560626.2	-	4	1906	c.1431C>T	c.(1429-1431)gtC>gtT	p.V477V	PEAK1_ENST00000558305.1_Silent_p.V477V|PEAK1_ENST00000312493.4_Silent_p.V477V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	477					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.V477V(2)									ACACATCCACGACAGTATATG	0.507													g|||	2	0.000399361	0.0015	0.0	5008	,	,		19225	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	large_intestine(2)						A		0,4056		0,0,2028	127.0	125.0	126.0		1431	-11.1	0.0	15		126	3,8379		0,3,4188	no	coding-synonymous	PEAK1	NM_024776.3		0,3,6216	AA,AG,GG		0.0358,0.0,0.0241		477/1747	77472838	3,12435	2028	4191	6219	SO:0001819	synonymous_variant	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1431C>T	15.37:g.77472838G>A			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.V477	ENST00000560626.2	37	c.1431	CCDS42062.1	15																																																																																			PEAK1	-	NULL	ENSG00000173517		0.507	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	HGNC	protein_coding	OTTHUMT00000419483.3	-	0.00	78	0	G			77472838	-1	tier1	-	no_errors	ENST00000312493	ensembl	human	known	74_37	silent	20.00	48	12	SNP	0.003	A
PEAR1	375033	genome.wustl.edu	37	1	156879873	156879873	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156879873C>T	ENST00000338302.3	+	14	1876	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	PEAR1_ENST00000292357.7_Missense_Mutation_p.R551C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	551					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.R551C(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTTCATGGACGCTGTCAGTG	0.582											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)											142.0	124.0	130.0					1																	156879873		2203	4300	6503	SO:0001583	missense	0			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1651C>T	1.37:g.156879873C>T	ENSP00000344465:p.Arg551Cys	1781	Q8TEK2	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.R551C	ENST00000338302.3	37	c.1651	CCDS30892.1	1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.645023	0.67358	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.33438	1.41;1.41	4.71	4.71	0.59529	EGF-like, laminin (1);	0.254556	0.27631	N	0.018502	T	0.25717	0.0626	L	0.52573	1.65	0.36792	D	0.884887	D	0.57571	0.98	P	0.48400	0.576	T	0.03364	-1.1044	10	0.46703	T	0.11	.	15.1995	0.73122	0.0:1.0:0.0:0.0	.	551	Q5VY43	PEAR1_HUMAN	C	551	ENSP00000344465:R551C;ENSP00000292357:R551C	ENSP00000292357:R551C	R	+	1	0	PEAR1	155146497	0.000000	0.05858	0.996000	0.52242	0.983000	0.72400	0.329000	0.19698	2.447000	0.82792	0.561000	0.74099	CGC	PEAR1	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin	ENSG00000187800		0.582	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2		0.00	57	0	C	NM_001080471		156879873	+1			no_errors	ENST00000292357	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.997	T
PEG3	5178	genome.wustl.edu	37	19	57328136	57328136	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:57328136G>A	ENST00000326441.9	-	10	2037	c.1674C>T	c.(1672-1674)ggC>ggT	p.G558G	PEG3_ENST00000423103.2_Silent_p.G558G|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.G434G|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.G432G|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	558					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATTTGTCTTTGCCATATATTT	0.428																																																	0													134.0	125.0	128.0					19																	57328136		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1674C>T	19.37:g.57328136G>A			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G558	ENST00000326441.9	37	c.1674	CCDS12948.1	19																																																																																			PEG3	-	NULL	ENSG00000198300		0.428	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0.00	57	0	G			57328136	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	16.39	51	10	SNP	0.039	A
PELI1	57162	genome.wustl.edu	37	2	64323617	64323617	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:64323617T>C	ENST00000358912.4	-	5	873	c.431A>G	c.(430-432)gAa>gGa	p.E144G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	144					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						AGGATTCCGTTCACATATGAT	0.373																																																	0													108.0	101.0	104.0					2																	64323617		2203	4300	6503	SO:0001583	missense	0				CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.431A>G	2.37:g.64323617T>C	ENSP00000351789:p.Glu144Gly		Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	pfam_Pellino_fam	p.E144G	ENST00000358912.4	37	c.431	CCDS1876.1	2	.	.	.	.	.	.	.	.	.	.	T	18.45	3.625996	0.66901	.	.	ENSG00000197329	ENST00000358912	T	0.50548	0.74	5.5	5.5	0.81552	.	0.142496	0.64402	D	0.000006	T	0.50820	0.1638	M	0.61703	1.905	0.49213	D	0.999763	B	0.33841	0.428	B	0.37198	0.243	T	0.55742	-0.8093	10	0.72032	D	0.01	-17.3424	15.9138	0.79496	0.0:0.0:0.0:1.0	.	144	Q96FA3	PELI1_HUMAN	G	144	ENSP00000351789:E144G	ENSP00000351789:E144G	E	-	2	0	PELI1	64177121	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.086000	0.71352	2.216000	0.71823	0.533000	0.62120	GAA	PELI1	-	pfam_Pellino_fam	ENSG00000197329		0.373	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI1	HGNC	protein_coding	OTTHUMT00000251686.1	-	0.00	32	0	T	NM_020651		64323617	-1	tier1	-	no_errors	ENST00000358912	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	C
PELI3	246330	genome.wustl.edu	37	11	66239923	66239923	+	Silent	SNP	C	C	T	rs370081441		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66239923C>T	ENST00000320740.7	+	5	598	c.438C>T	c.(436-438)agC>agT	p.S146S	PELI3_ENST00000524466.1_Silent_p.S146S|PELI3_ENST00000349459.6_Silent_p.S122S|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	146					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CACATGATAGCGACACAGACA	0.552																																																	0								C	,	0,4400		0,0,2200	213.0	160.0	178.0		366,438	-4.9	0.9	11		178	3,8587	3.0+/-9.4	0,3,4292	no	coding-synonymous,coding-synonymous	PELI3	NM_001098510.1,NM_145065.2	,	0,3,6492	TT,TC,CC		0.0349,0.0,0.0231	,	122/446,146/470	66239923	3,12987	2200	4295	6495	SO:0001819	synonymous_variant	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.438C>T	11.37:g.66239923C>T			Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	pfam_Pellino_fam	p.S146	ENST00000320740.7	37	c.438	CCDS31615.1	11																																																																																			PELI3	-	pfam_Pellino_fam	ENSG00000174516		0.552	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1		0.00	37	0	C	NM_145065		66239923	+1			no_errors	ENST00000320740	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.894	T
PELO	53918	genome.wustl.edu	37	5	52097435	52097435	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:52097435G>A	ENST00000274311.2	+	3	1904	c.919G>A	c.(919-921)Gca>Aca	p.A307T	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	307					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TGAAGCCATGGCAATTGACAC	0.493																																																	0													97.0	83.0	87.0					5																	52097435		2203	4300	6503	SO:0001583	missense	0				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.919G>A	5.37:g.52097435G>A	ENSP00000274311:p.Ala307Thr		Q9GZS6|Q9Y306	Missense_Mutation	SNP	pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	p.A307T	ENST00000274311.2	37	c.919	CCDS3956.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.246016	0.95272	.	.	ENSG00000152684	ENST00000274311	T	0.74842	-0.88	5.91	5.91	0.95273	eRF1 domain 3 (1);	0.000000	0.85682	U	0.000000	D	0.92338	0.7569	H	0.98370	4.215	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.94636	0.7826	10	0.87932	D	0	-7.6461	19.9	0.96981	0.0:0.0:1.0:0.0	.	307	Q9BRX2	PELO_HUMAN	T	307	ENSP00000274311:A307T	ENSP00000274311:A307T	A	+	1	0	PELO	52133192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.609000	0.90898	2.794000	0.96219	0.655000	0.94253	GCA	PELO	-	pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	ENSG00000152684		0.493	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELO	HGNC	protein_coding	OTTHUMT00000214040.1	-	0.00	47	0	G	NM_015946		52097435	+1	tier1	-	no_errors	ENST00000274311	ensembl	human	known	74_37	missense	21.15	41	11	SNP	1.000	A
PELP1	27043	genome.wustl.edu	37	17	4578192	4578192	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:4578192G>A	ENST00000574876.1	-	12	1351	c.1334C>T	c.(1333-1335)tCg>tTg	p.S445L	PELP1_ENST00000572293.1_Missense_Mutation_p.S495L|PELP1_ENST00000436683.2_Missense_Mutation_p.S298L|PELP1_ENST00000269230.7_Missense_Mutation_p.S443L|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000301396.4_Missense_Mutation_p.S589L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	445					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CATTCCCGCCGAGGCCCCACA	0.592																																																	0													89.0	95.0	93.0					17																	4578192		1998	4159	6157	SO:0001583	missense	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1334C>T	17.37:g.4578192G>A	ENSP00000461625:p.Ser445Leu		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.S589L	ENST00000574876.1	37	c.1766	CCDS58503.1	17	.	.	.	.	.	.	.	.	.	.	G	8.219	0.802070	0.16397	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.47869	0.83;0.85;1.47	5.19	4.18	0.49190	Uncharacterised domain NUC202 (1);	0.145936	0.45867	D	0.000321	T	0.44222	0.1283	N	0.14661	0.345	0.19300	N	0.999976	D;D	0.61697	0.99;0.99	P;P	0.56127	0.792;0.792	T	0.35674	-0.9779	10	0.56958	D	0.05	-15.0872	13.568	0.61830	0.0:0.1687:0.8313:0.0	.	298;445	E7EV54;Q8IZL8	.;PELP1_HUMAN	L	589;443;298	ENSP00000301396:S589L;ENSP00000269230:S443L;ENSP00000416231:S298L	ENSP00000269230:S443L	S	-	2	0	AC091153.1	4524941	1.000000	0.71417	0.944000	0.38274	0.049000	0.14656	4.299000	0.59073	2.705000	0.92388	0.655000	0.94253	TCG	PELP1	-	pfam_Uncharacterised_NUC202	ENSG00000141456		0.592	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	-	0.00	60	0	G	NM_014389		4578192	-1	tier1	-	no_errors	ENST00000301396	ensembl	human	known	74_37	missense	8.96	61	6	SNP	0.294	A
PEPD	5184	genome.wustl.edu	37	19	33878909	33878909	+	Missense_Mutation	SNP	C	C	T	rs544921062		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:33878909C>T	ENST00000244137.7	-	14	1264	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M	PEPD_ENST00000397032.4_Missense_Mutation_p.V370M|PEPD_ENST00000436370.3_Missense_Mutation_p.V347M|PEPD_ENST00000591968.1_5'UTR	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	411					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCCGGCTCCACGGTGAGCACC	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16604	0.0		0.0	False		,,,				2504	0.0																0													10.0	15.0	13.0					19																	33878909		1998	4133	6131	SO:0001583	missense	0			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1231G>A	19.37:g.33878909C>T	ENSP00000244137:p.Val411Met		A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.V411M	ENST00000244137.7	37	c.1231	CCDS42544.1	19	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841506	0.71488	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.80033	-1.33;-1.33;-1.33	5.46	5.46	0.80206	Peptidase M24, structural domain (3);	0.113840	0.64402	D	0.000011	D	0.90659	0.7070	M	0.93420	3.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.985;0.984;0.978;0.978	D	0.91652	0.5335	10	0.87932	D	0	-39.6278	7.9998	0.30291	0.0:0.8261:0.0:0.1739	.	347;370;411;411	E9PCE8;A8MX47;P12955;A8K3Z1	.;.;PEPD_HUMAN;.	M	411;370;347	ENSP00000244137:V411M;ENSP00000380226:V370M;ENSP00000391890:V347M	ENSP00000244137:V411M	V	-	1	0	PEPD	38570749	0.968000	0.33430	0.954000	0.39281	0.727000	0.41649	2.215000	0.42862	2.561000	0.86390	0.491000	0.48974	GTG	PEPD	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000124299		0.692	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEPD	HGNC	protein_coding	OTTHUMT00000451432.3	-	0.00	25	0	C	NM_000285		33878909	-1	tier1	-	no_errors	ENST00000244137	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.972	T
PER3	8863	genome.wustl.edu	37	1	7887598	7887598	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:7887598C>T	ENST00000361923.2	+	17	2760	c.2585C>T	c.(2584-2586)tCg>tTg	p.S862L	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.S870L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	862	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTGTTGTCGCCATCGTTT	0.537																																																	0													193.0	187.0	189.0					1																	7887598		2203	4300	6503	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2585C>T	1.37:g.7887598C>T	ENSP00000355031:p.Ser862Leu		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.S862L	ENST00000361923.2	37	c.2585	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	C	9.535	1.111854	0.20714	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10005	2.93;2.92	4.32	1.06	0.20224	.	2.862750	0.01478	N	0.016563	T	0.12178	0.0296	L	0.39898	1.24	0.09310	N	1	D;D;D;D	0.62365	0.984;0.984;0.991;0.984	B;B;P;B	0.46237	0.31;0.31;0.508;0.31	T	0.33777	-0.9855	10	0.12103	T	0.63	.	7.5141	0.27590	0.1433:0.6877:0.0:0.169	.	862;870;870;862	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	L	870;862;73	ENSP00000366755:S870L;ENSP00000355031:S862L	ENSP00000355031:S862L	S	+	2	0	PER3	7810185	0.007000	0.16637	0.000000	0.03702	0.036000	0.12997	0.166000	0.16583	0.461000	0.27071	0.555000	0.69702	TCG	PER3	-	NULL	ENSG00000049246		0.537	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	-	0.00	64	0	C	NM_016831		7887598	+1	tier1	-	no_errors	ENST00000361923	ensembl	human	known	74_37	missense	30.00	49	21	SNP	0.000	T
PES1	23481	genome.wustl.edu	37	22	30977620	30977620	+	Silent	SNP	G	G	A	rs565165480		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:30977620G>A	ENST00000405677.1	-	9	1168	c.225C>T	c.(223-225)gaC>gaT	p.D75D	PES1_ENST00000335214.6_Silent_p.D214D|PES1_ENST00000354694.7_Silent_p.D214D|PES1_ENST00000402281.1_Silent_p.D75D|PES1_ENST00000402284.3_Silent_p.D197D	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGTAGTCCACGTCTGTCGGGT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		15509	0.0		0.0	False		,,,				2504	0.001																0													96.0	69.0	78.0					22																	30977620		2203	4300	6503	SO:0001819	synonymous_variant	0			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.225C>T	22.37:g.30977620G>A				Silent	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.D214	ENST00000405677.1	37	c.642		22																																																																																			PES1	-	pfam_Pescadillo	ENSG00000100029		0.577	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321189.2	-	0.00	18	0	G	NM_014303		30977620	-1	tier1	-	no_errors	ENST00000354694	ensembl	human	known	74_37	silent	27.78	13	5	SNP	0.980	A
PEX5L	51555	genome.wustl.edu	37	3	179519743	179519743	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:179519743G>A	ENST00000467460.1	-	15	2084	c.1754C>T	c.(1753-1755)gCa>gTa	p.A585V	RP11-494H4.3_ENST00000602704.1_lincRNA|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A393V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A542V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A550V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A526V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A561V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A477V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A477V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A583V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	585					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCCAGAGATTGCAGGATGAGG	0.483																																																	0													161.0	172.0	168.0					3																	179519743		2203	4300	6503	SO:0001583	missense	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1754C>T	3.37:g.179519743G>A	ENSP00000419975:p.Ala585Val		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A585V	ENST00000467460.1	37	c.1754	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798562	0.31777	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.72	5.72	0.89469	.	0.140567	0.50627	D	0.000118	T	0.55289	0.1911	N	0.02916	-0.46	0.43047	D	0.994648	B;B;B;B;B;B	0.13594	0.002;0.002;0.004;0.008;0.003;0.005	B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.001;0.001	T	0.54403	-0.8299	10	0.30078	T	0.28	-15.5032	13.1186	0.59313	0.073:0.0:0.927:0.0	.	526;561;477;583;550;585	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	585;583;550;583;477;393;542;473;526;477;561	ENSP00000419975:A585V;ENSP00000263962:A583V;ENSP00000418440:A550V;ENSP00000376420:A477V;ENSP00000418665:A393V;ENSP00000420555:A542V;ENSP00000418054:A526V;ENSP00000417270:A477V;ENSP00000419348:A561V	ENSP00000263962:A583V	A	-	2	0	PEX5L	181002437	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	4.810000	0.62598	2.700000	0.92200	0.585000	0.79938	GCA	PEX5L	-	NULL	ENSG00000114757		0.483	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	-	0.00	44	0	G	NM_016559		179519743	-1	tier1	-	no_errors	ENST00000467460	ensembl	human	known	74_37	missense	10.71	50	6	SNP	0.987	A
PFKM	5213	genome.wustl.edu	37	12	48528050	48528050	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:48528050G>A	ENST00000312352.7	+	7	668	c.629G>A	c.(628-630)cGc>cAc	p.R210H	PFKM_ENST00000547587.1_Missense_Mutation_p.R210H|PFKM_ENST00000340802.6_Missense_Mutation_p.R281H|PFKM_ENST00000551804.1_Missense_Mutation_p.R210H|PFKM_ENST00000359794.5_Missense_Mutation_p.R210H|PFKM_ENST00000395233.2_Missense_Mutation_p.R210H	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	210	N-terminal catalytic PFK domain 1.|Substrate binding. {ECO:0000255|HAMAP- Rule:MF_03184}.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GTAATGGGCCGCCACTGTGGG	0.507																																																	0													176.0	157.0	164.0					12																	48528050		2203	4300	6503	SO:0001583	missense	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.629G>A	12.37:g.48528050G>A	ENSP00000309438:p.Arg210His		J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.R210H	ENST00000312352.7	37	c.629	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.267825	0.95399	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	4.54	4.54	0.55810	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.94803	0.7972	10	0.87932	D	0	-14.0999	17.2641	0.87081	0.0:0.0:1.0:0.0	.	210;210;281	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	H	281;210;210;210;210;210	ENSP00000345771:R281H;ENSP00000352842:R210H;ENSP00000378656:R210H;ENSP00000448177:R210H;ENSP00000449426:R210H;ENSP00000309438:R210H	ENSP00000309438:R210H	R	+	2	0	PFKM	46814317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.797000	0.96272	0.655000	0.94253	CGC	PFKM	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.507	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	-	0.00	65	0	G	NM_000289		48528050	+1	tier1	-	no_errors	ENST00000312352	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	A
PFN1	5216	genome.wustl.edu	37	17	4849207	4849207	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:4849207A>G	ENST00000225655.5	-	3	1030	c.411T>C	c.(409-411)cgT>cgC	p.R137R	PFN1_ENST00000574872.1_Silent_p.R101R	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	137					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						AGTACTGGGAACGCCGAAGGT	0.527																																																	0													102.0	72.0	82.0					17																	4849207		2203	4300	6503	SO:0001819	synonymous_variant	0			BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.411T>C	17.37:g.4849207A>G			Q53Y44	Silent	SNP	pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates	p.R137	ENST00000225655.5	37	c.411	CCDS11061.1	17																																																																																			PFN1	-	superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac	ENSG00000108518		0.527	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFN1	HGNC	protein_coding	OTTHUMT00000216853.1	-	0.00	118	0	A	NM_005022		4849207	-1	tier1	-	no_errors	ENST00000225655	ensembl	human	known	74_37	silent	16.51	91	18	SNP	0.998	G
PGA5	5222	genome.wustl.edu	37	11	61015862	61015862	+	Intron	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:61015862T>A	ENST00000312403.5	+	6	841				PGA5_ENST00000451616.2_Missense_Mutation_p.F56I|CTD-2331C18.5_ENST00000537594.1_RNA|PGA5_ENST00000541528.1_5'Flank|PGA4_ENST00000422676.2_Intron	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)						digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|skin(1)	2						AACAAAAAAATTCATGTCTTC	0.502																																																	0													301.0	306.0	304.0					11																	61015862		2202	4299	6501	SO:0001627	intron_variant	0			BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.657-29T>A	11.37:g.61015862T>A			A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.F56I	ENST00000312403.5	37	c.166	CCDS8001.1	11	.	.	.	.	.	.	.	.	.	.	T	8.211	0.800421	0.16397	.	.	ENSG00000256713	ENST00000451616	T	0.35973	1.28	1.75	0.58	0.17402	.	.	.	.	.	T	0.28764	0.0713	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29458	-1.0011	6	0.52906	T	0.07	.	2.6238	0.04924	0.2288:0.1502:0.0:0.6209	.	.	.	.	I	56	ENSP00000408739:F56I	ENSP00000408739:F56I	F	+	1	0	PGA5	60772438	0.002000	0.14202	0.001000	0.08648	0.088000	0.18126	0.707000	0.25704	0.159000	0.19401	0.344000	0.21773	TTC	PGA5	-	NULL	ENSG00000256713		0.502	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGA5	HGNC	protein_coding	OTTHUMT00000397972.1	-	0.00	152	0	T	NM_014224		61015862	+1	tier1	-	no_errors	ENST00000451616	ensembl	human	putative	74_37	missense	8.26	111	10	SNP	0.001	A
PGAP1	80055	genome.wustl.edu	37	2	197712754	197712754	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:197712754G>A	ENST00000354764.4	-	21	1983	c.1869C>T	c.(1867-1869)tgC>tgT	p.C623C	PGAP1_ENST00000409475.1_Missense_Mutation_p.A592V	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	623					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CATATTCTAAGCAACAACCTG	0.303																																																	0													103.0	103.0	103.0					2																	197712754		2202	4290	6492	SO:0001819	synonymous_variant	0				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1869C>T	2.37:g.197712754G>A			Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.A592V	ENST00000354764.4	37	c.1775	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520455	0.44866	.	.	ENSG00000197121	ENST00000409475	.	.	.	4.09	2.07	0.26955	.	.	.	.	.	T	0.45175	0.1329	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42982	-0.9419	7	0.54805	T	0.06	-8.2384	8.2903	0.31954	0.3554:0.0:0.6446:0.0	.	592	Q75T13-3	.	V	592	.	ENSP00000387028:A592V	A	-	2	0	PGAP1	197420999	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.937000	0.28951	0.918000	0.36919	0.655000	0.94253	GCT	PGAP1	-	NULL	ENSG00000197121		0.303	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	-	0.00	52	0	G	NM_024989		197712754	-1	tier1	-	no_errors	ENST00000409475	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	A
PGBD1	84547	genome.wustl.edu	37	6	28268581	28268581	+	Missense_Mutation	SNP	G	G	A	rs199718652		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:28268581G>A	ENST00000405948.2	+	7	1370	c.950G>A	c.(949-951)cGt>cAt	p.R317H	PGBD1_ENST00000259883.3_Missense_Mutation_p.R317H	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	317						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGAAGGACCGTCACCCAGGT	0.473																																																	0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	75.0	75.0	75.0		950,950	-2.2	0.0	6		75	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PGBD1	NM_001184743.1,NM_032507.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	317/810,317/810	28268581	1,13005	2203	4300	6503	SO:0001583	missense	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.950G>A	6.37:g.28268581G>A	ENSP00000385213:p.Arg317His		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN	p.R317H	ENST00000405948.2	37	c.950	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	6.264	0.416863	0.11870	0.0	1.16E-4	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01464	4.86;4.86	4.73	-2.18	0.07037	.	0.953235	0.08637	N	0.916195	T	0.00440	0.0014	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41431	-0.9509	10	0.25751	T	0.34	-19.0595	5.5122	0.16886	0.4972:0.1452:0.3576:0.0	.	317	Q96JS3	PGBD1_HUMAN	H	317	ENSP00000385213:R317H;ENSP00000259883:R317H	ENSP00000259883:R317H	R	+	2	0	PGBD1	28376560	0.000000	0.05858	0.002000	0.10522	0.377000	0.30045	-0.776000	0.04674	-0.606000	0.05746	-0.812000	0.03155	CGT	PGBD1	-	NULL	ENSG00000137338		0.473	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	-	0.00	38	0	G			28268581	+1	tier1	rs199718652	no_errors	ENST00000259883	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.012	A
PGLYRP2	114770	genome.wustl.edu	37	19	15587229	15587229	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15587229G>A	ENST00000340880.4	-	2	732	c.252C>T	c.(250-252)tgC>tgT	p.C84C	PGLYRP2_ENST00000292609.4_Silent_p.C84C	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	84					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGCTTAGTGGGCAGGGATCCA	0.592																																																	0													127.0	88.0	101.0					19																	15587229		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.252C>T	19.37:g.15587229G>A			A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.C84	ENST00000340880.4	37	c.252	CCDS12330.2	19																																																																																			PGLYRP2	-	NULL	ENSG00000161031		0.592	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	-	0.00	63	0	G	NM_052890		15587229	-1	tier1	-	no_errors	ENST00000292609	ensembl	human	known	74_37	silent	16.28	36	7	SNP	0.000	A
PGLYRP3	114771	genome.wustl.edu	37	1	153274898	153274898	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:153274898C>T	ENST00000290722.1	-	5	767	c.715G>A	c.(715-717)Gac>Aac	p.D239N		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	239					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATCCAATGTCACAAAAGTTC	0.483																																																	0													244.0	227.0	233.0					1																	153274898		2203	4300	6503	SO:0001583	missense	0			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.715G>A	1.37:g.153274898C>T	ENSP00000290722:p.Asp239Asn		A1A4U8|Q5SY65	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.D239N	ENST00000290722.1	37	c.715	CCDS1035.1	1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916760	0.73098	.	.	ENSG00000159527	ENST00000290722	T	0.26810	1.71	4.3	4.3	0.51218	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.64402	D	0.000008	T	0.56790	0.2009	H	0.97962	4.115	0.46078	D	0.998857	D	0.71674	0.998	D	0.66196	0.942	T	0.72557	-0.4257	10	0.87932	D	0	-22.8611	12.1343	0.53961	0.0:1.0:0.0:0.0	.	239	Q96LB9	PGRP3_HUMAN	N	239	ENSP00000290722:D239N	ENSP00000290722:D239N	D	-	1	0	PGLYRP3	151541522	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	2.032000	0.41127	2.230000	0.72887	0.655000	0.94253	GAC	PGLYRP3	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	ENSG00000159527		0.483	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	HGNC	protein_coding	OTTHUMT00000039488.1	-	0.00	76	0	C	NM_052891		153274898	-1	tier1	-	no_errors	ENST00000290722	ensembl	human	known	74_37	missense	14.29	54	9	SNP	1.000	T
PGLYRP3	114771	genome.wustl.edu	37	1	153279708	153279708	+	Frame_Shift_Del	DEL	C	C	-	rs369093535		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:153279708delC	ENST00000290722.1	-	2	143	c.91delG	c.(91-93)gcafs	p.A31fs		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	31					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCGGTCTTGCCCCCCACTCC	0.622																																																	0													41.0	39.0	40.0					1																	153279708		2202	4300	6502	SO:0001589	frameshift_variant	0			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.91delG	1.37:g.153279708delC	ENSP00000290722:p.Ala31fs		A1A4U8|Q5SY65	Frame_Shift_Del	DEL	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.A31fs	ENST00000290722.1	37	c.91	CCDS1035.1	1																																																																																			PGLYRP3	-	superfamily_Amidase_domain,smart_PGRP_domain_met/bac	ENSG00000159527		0.622	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	HGNC	protein_coding	OTTHUMT00000039488.1		0.00	44	0	C	NM_052891		153279708	-1	tier1		no_errors	ENST00000290722	ensembl	human	known	74_37	frame_shift_del	26.09	34	12	DEL	0.002	-
PGM5	5239	genome.wustl.edu	37	9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:70993121C>T	ENST00000396396.1	+	2	497	c.268C>T	c.(268-270)Cga>Tga	p.R90*	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Nonsense_Mutation_p.R90*	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTAGATTGGACGACTGATTAT	0.443																																																	0													38.0	42.0	41.0					9																	70993121		2196	4290	6486	SO:0001587	stop_gained	0			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.268C>T	9.37:g.70993121C>T	ENSP00000379678:p.Arg90*		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Nonsense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.R90*	ENST00000396396.1	37	c.268	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	.	37	6.608886	0.97701	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	.	.	.	4.37	4.37	0.52481	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	11.9035	0.52697	0.1751:0.8249:0.0:0.0	.	.	.	.	X	90;90;90;56	.	ENSP00000366531:R90X	R	+	1	2	PGM5	70182941	0.938000	0.31826	0.982000	0.44146	0.973000	0.67179	2.126000	0.42026	2.131000	0.65755	0.544000	0.68410	CGA	PGM5	-	pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000154330		0.443	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	-	0.00	71	0	C	NM_021965		70993121	+1	tier1	-	no_errors	ENST00000396396	ensembl	human	known	74_37	nonsense	10.48	94	11	SNP	0.949	T
PGM5	5239	genome.wustl.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:70993145A>G	ENST00000396396.1	+	2	521	c.292A>G	c.(292-294)Atc>Gtc	p.I98V	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.I98V	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.I98V(3)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAGAATGGCATCTTGTCGAC	0.478																																																	3	Substitution - Missense(3)	endometrium(3)											35.0	38.0	37.0					9																	70993145		2198	4289	6487	SO:0001583	missense	0			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.292A>G	9.37:g.70993145A>G	ENSP00000379678:p.Ile98Val		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.I98V	ENST00000396396.1	37	c.292	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	.	14.68	2.608357	0.46527	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.62498	0.02;0.02;0.02	4.37	4.37	0.52481	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.137251	0.48286	U	0.000197	T	0.73853	0.3640	M	0.88310	2.945	0.45502	D	0.998467	B	0.31227	0.314	P	0.45167	0.472	T	0.76953	-0.2768	10	0.72032	D	0.01	.	8.4592	0.32917	0.8259:0.0:0.0:0.1741	.	98	Q15124	PGM5_HUMAN	V	98;98;98;64	ENSP00000379678:I98V;ENSP00000379674:I98V;ENSP00000394864:I64V	ENSP00000366531:I98V	I	+	1	0	PGM5	70182965	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.606000	0.61126	1.730000	0.51580	0.445000	0.29226	ATC	PGM5	-	pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000154330		0.478	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	-	0.00	93	0	A	NM_021965		70993145	+1	tier1	-	no_errors	ENST00000396396	ensembl	human	known	74_37	missense	8.33	88	8	SNP	1.000	G
PGRMC2	10424	genome.wustl.edu	37	4	129193546	129193547	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:129193546_129193547delCT	ENST00000296425.5	-	2	564_565	c.544_545delAG	c.(544-546)agtfs	p.S182fs	PGRMC2_ENST00000520121.1_Frame_Shift_Del_p.S206fs|PGRMC2_ENST00000503872.1_Frame_Shift_Del_p.S3fs|PGRMC2_ENST00000394276.3_Frame_Shift_Del_p.S3fs|PGRMC2_ENST00000512483.1_Frame_Shift_Del_p.S3fs|PGRMC2_ENST00000503588.1_Frame_Shift_Del_p.S50fs			O15173	PGRC2_HUMAN	progesterone receptor membrane component 2	182	Cytochrome b5 heme-binding.				steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)										TTCTCGAACACTCTCCATTTGT	0.332																																					Colon(78;371 1268 8296 41305 53030)												0																																										SO:0001589	frameshift_variant	0				CCDS3739.1, CCDS3739.2	4q26	2008-08-29			ENSG00000164040	ENSG00000164040			16089	protein-coding gene	gene with protein product		607735				9705155	Standard	NM_006320		Approved	PMBP, DG6	uc003igg.3	O15173	OTTHUMG00000133342	ENST00000296425.5:c.544_545delAG	4.37:g.129193548_129193549delCT	ENSP00000296425:p.Ser182fs		Q569H1	Frame_Shift_Del	DEL	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd	p.S206fs	ENST00000296425.5	37	c.617_616		4																																																																																			PGRMC2	-	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd	ENSG00000164040		0.332	PGRMC2-007	KNOWN	basic|appris_principal	protein_coding	PGRMC2	HGNC	protein_coding	OTTHUMT00000470697.1		0.00	38	0	CT			129193547	-1	tier1		no_errors	ENST00000520121	ensembl	human	known	74_37	frame_shift_del	19.23	21	5	DEL	1.000:1.000	-
PHC1	1911	genome.wustl.edu	37	12	9089508	9089508	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:9089508G>A	ENST00000543824.1	+	13	2757	c.2425G>A	c.(2425-2427)Gca>Aca	p.A809T	PHC1_ENST00000544916.1_Missense_Mutation_p.A809T|PHC1_ENST00000536844.1_Missense_Mutation_p.A415T|PHC1_ENST00000433083.2_Missense_Mutation_p.A764T			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	809					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GTACGCCCCCGCAGAGCAGTT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0																0													99.0	84.0	89.0					12																	9089508		2203	4297	6500	SO:0001583	missense	0			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2425G>A	12.37:g.9089508G>A	ENSP00000440674:p.Ala809Thr		D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.A809T	ENST00000543824.1	37	c.2425	CCDS8597.1	12	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798306	0.90538	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.56	5.56	0.83823	Zinc finger, FCS-type (1);Zinc finger, MYM-type (1);	0.153411	0.44285	D	0.000476	T	0.58991	0.2161	L	0.58810	1.83	0.80722	D	1	D	0.61697	0.99	P	0.52159	0.691	T	0.62277	-0.6888	10	0.72032	D	0.01	-7.0979	19.136	0.93428	0.0:0.0:1.0:0.0	.	809	P78364	PHC1_HUMAN	T	809;809;764;809;415	ENSP00000440674:A809T;ENSP00000251757:A809T;ENSP00000399194:A764T;ENSP00000437659:A809T;ENSP00000440488:A415T	ENSP00000251757:A809T	A	+	1	0	PHC1	8980775	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.421000	0.97455	2.614000	0.88457	0.561000	0.74099	GCA	PHC1	-	pfam_Znf_MYM,pfscan_Znf_FCS	ENSG00000111752		0.517	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1	-	0.00	49	0	G	NM_004426		9089508	+1	tier1	-	no_errors	ENST00000543824	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A
PHF1	5252	genome.wustl.edu	37	6	33380050	33380050	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:33380050delC	ENST00000374516.3	+	2	281	c.10delC	c.(10-12)cccfs	p.P5fs	PHF1_ENST00000459809.1_3'UTR|PHF1_ENST00000374512.3_Frame_Shift_Del_p.P5fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	5					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				AATGGCGCAGCCCCCCCGGCT	0.567																																																	0													23.0	25.0	25.0					6																	33380050		2203	4300	6503	SO:0001589	frameshift_variant	0			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.10delC	6.37:g.33380050delC	ENSP00000363640:p.Pro5fs		B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R6fs	ENST00000374516.3	37	c.10	CCDS4777.1	6																																																																																			PHF1	-	NULL	ENSG00000112511		0.567	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF1	HGNC	protein_coding	OTTHUMT00000076175.3		0.00	47	0	C			33380050	+1	tier1		no_errors	ENST00000374516	ensembl	human	known	74_37	frame_shift_del	16.67	25	5	DEL	1.000	-
PHF13	148479	genome.wustl.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576																																																	0										54,4212		2,50,2081						5.5	1.0			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	0			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.K120in_frame_del	ENST00000377648.4	37	c.348_350	CCDS85.1	1																																																																																			PHF13	-	NULL	ENSG00000116273		0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1		0.00	23	0	GAA	NM_153812		6680071	+1	tier1		no_errors	ENST00000377648	ensembl	human	known	74_37	in_frame_del	25.81	23	8	DEL	0.998:1.000:1.000	-
PHF2	5253	genome.wustl.edu	37	9	96422612	96422612	+	Frame_Shift_Del	DEL	A	A	-	rs76832193		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:96422612delA	ENST00000359246.4	+	12	1835	c.1468delA	c.(1468-1470)aaafs	p.K492fs	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	492	Lys-rich.|Pro-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K492fs*6(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAAAGTGTCCAAAAAAAAGAC	0.597																																																	1	Deletion - Frameshift(1)	large_intestine(1)											20.0	23.0	22.0					9																	96422612		2202	4299	6501	SO:0001589	frameshift_variant	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1468delA	9.37:g.96422612delA	ENSP00000352185:p.Lys492fs		Q4VXG0|Q8N3K2|Q9Y6N4	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.K492fs	ENST00000359246.4	37	c.1468	CCDS35069.1	9																																																																																			PHF2	-	NULL	ENSG00000197724		0.597	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1		0.00	95	0	A	NM_005392		96422612	+1	tier1		no_errors	ENST00000359246	ensembl	human	known	74_37	frame_shift_del	15.38	66	12	DEL	1.000	-
PHF3	23469	genome.wustl.edu	37	6	64394560	64394560	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:64394560A>T	ENST00000262043.3	+	4	1277	c.937A>T	c.(937-939)Ata>Tta	p.I313L	PHF3_ENST00000393387.1_Missense_Mutation_p.I313L|PHF3_ENST00000509330.1_Missense_Mutation_p.I313L			Q92576	PHF3_HUMAN	PHD finger protein 3	313					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGAAGAAATGATAGCAACAAG	0.358																																					GBM(135;136 1820 29512 34071 46235)												0													64.0	65.0	65.0					6																	64394560		2203	4299	6502	SO:0001583	missense	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.937A>T	6.37:g.64394560A>T	ENSP00000262043:p.Ile313Leu		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.I313L	ENST00000262043.3	37	c.937	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	A	0.090	-1.168874	0.01660	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.43688	2.29;1.92;2.27;1.93;0.94;2.27	5.64	2.84	0.33178	.	1.038410	0.07695	N	0.939342	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.33904	-0.9850	10	0.23891	T	0.37	1.1548	5.8026	0.18422	0.6798:0.0:0.1628:0.1573	.	313;313	Q92576;D6R9X2	PHF3_HUMAN;.	L	127;225;313;266;313;313	ENSP00000424694:I127L;ENSP00000425227:I225L;ENSP00000262043:I313L;ENSP00000424078:I266L;ENSP00000422841:I313L;ENSP00000377048:I313L	ENSP00000262043:I313L	I	+	1	0	PHF3	64452519	0.060000	0.20803	0.007000	0.13788	0.008000	0.06430	1.447000	0.35101	0.918000	0.36919	0.477000	0.44152	ATA	PHF3	-	NULL	ENSG00000118482		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	-	0.00	25	0	A			64394560	+1	tier1	-	no_errors	ENST00000262043	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	T
PHGR1	644844	genome.wustl.edu	37	15	40648424	40648424	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:40648424delC	ENST00000448599.2	+	4	225	c.169delC	c.(169-171)cccfs	p.P58fs	DISP2_ENST00000267889.3_5'Flank	NM_001145643.1	NP_001139115.1	C9JFL3	PHGR1_HUMAN	proline/histidine/glycine-rich 1	58	Gly-rich.																CTGCGGGCCACCCCCCCACCA	0.731																																																	0													1.0	1.0	1.0					15																	40648424		163	691	854	SO:0001589	frameshift_variant	0				CCDS45225.1	15q15.1	2009-10-08				ENSG00000233041			37226	protein-coding gene	gene with protein product							Standard	NM_001145643		Approved		uc010uco.2	C9JFL3		ENST00000448599.2:c.169delC	15.37:g.40648424delC	ENSP00000410024:p.Pro58fs			Frame_Shift_Del	DEL	NULL	p.H59fs	ENST00000448599.2	37	c.169	CCDS45225.1	15																																																																																			PHGR1	-	NULL	ENSG00000233041		0.731	PHGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHGR1	HGNC	protein_coding	OTTHUMT00000418450.1		0.00	17	0	C	NM_001145643		40648424	+1			no_errors	ENST00000448599	ensembl	human	known	74_37	frame_shift_del	33.33	12	6	DEL	0.026	0
PHLDB1	23187	genome.wustl.edu	37	11	118528628	118528628	+	3'UTR	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:118528628C>A	ENST00000361417.2	+	0	5640				TREH_ENST00000529101.1_3'UTR|PHLDB1_ENST00000356063.5_3'UTR|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTAAGCCCACCTCCCCTGCTC	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.*1095C>A	11.37:g.118528628C>A			B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	RNA	SNP	-	NULL	ENST00000361417.2	37	NULL	CCDS8401.1	11																																																																																			PHLDB1	-	-	ENSG00000019144		0.567	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	-	0.00	49	0	C	NM_015157		118528628	+1	tier1	-	no_errors	ENST00000534140	ensembl	human	known	74_37	rna	22.22	21	6	SNP	0.004	A
PI16	221476	genome.wustl.edu	37	6	36926976	36926976	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:36926976delG	ENST00000373674.3	+	2	555	c.227delG	c.(226-228)tggfs	p.W76fs		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	76	SCP.				negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGTGCGTGTGGGGCCACAAC	0.667																																																	0													24.0	21.0	22.0					6																	36926976		2200	4299	6499	SO:0001589	frameshift_variant	0				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.227delG	6.37:g.36926976delG	ENSP00000362778:p.Trp76fs		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Frame_Shift_Del	DEL	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.G77fs	ENST00000373674.3	37	c.227	CCDS34440.1	6																																																																																			PI16	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000164530		0.667	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI16	HGNC	protein_coding	OTTHUMT00000040380.1		0.00	90	0	G	NM_153370		36926976	+1	tier1		no_errors	ENST00000373674	ensembl	human	known	74_37	frame_shift_del	14.86	63	11	DEL	1.000	-
PI4KA	5297	genome.wustl.edu	37	22	21161675	21161675	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:21161675C>T	ENST00000572273.1	-	10	1199	c.969G>A	c.(967-969)ctG>ctA	p.L323L	PI4KA_ENST00000255882.6_Silent_p.L381L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	323					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GAGTGTCACGCAGCATCTTGA	0.522																																					GBM(136;1332 1831 3115 23601 50806)												0													194.0	133.0	154.0					22																	21161675		2203	4300	6503	SO:0001819	synonymous_variant	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.969G>A	22.37:g.21161675C>T			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L381	ENST00000572273.1	37	c.1143		22																																																																																			PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.522	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0.00	47	0	C	NM_058004		21161675	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	silent	23.33	23	7	SNP	0.987	T
PIAS3	10401	genome.wustl.edu	37	1	145585419	145585419	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:145585419T>C	ENST00000393045.2	+	14	1774	c.1684T>C	c.(1684-1686)Tac>Cac	p.Y562H	PIAS3_ENST00000369298.1_Missense_Mutation_p.Y527H|NUDT17_ENST00000444015.2_5'Flank	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	562					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTCTTCCAGTACCGAGGGAC	0.597																																																	0													97.0	98.0	97.0					1																	145585419		2203	4300	6503	SO:0001583	missense	0			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1684T>C	1.37:g.145585419T>C	ENSP00000376765:p.Tyr562His		Q9UFI3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.Y562H	ENST00000393045.2	37	c.1684	CCDS920.2	1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144025	0.77888	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.38077	1.16;1.17	5.15	5.15	0.70609	.	0.104147	0.41712	D	0.000829	T	0.37265	0.0997	L	0.50333	1.59	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.30357	-0.9981	10	0.72032	D	0.01	-8.8155	12.9634	0.58472	0.0:0.0:0.0:1.0	.	562	Q9Y6X2	PIAS3_HUMAN	H	562;527	ENSP00000376765:Y562H;ENSP00000358304:Y527H	ENSP00000358304:Y527H	Y	+	1	0	PIAS3	144296776	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.256000	0.65468	2.164000	0.68074	0.459000	0.35465	TAC	PIAS3	-	NULL	ENSG00000131788		0.597	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	HGNC	protein_coding	OTTHUMT00000038533.4	-	0.00	38	0	T	NM_006099		145585419	+1	tier1	-	no_errors	ENST00000393045	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	C
PIGP	51227	genome.wustl.edu	37	21	38439662	38439662	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:38439662T>C	ENST00000464265.1	-	3	469	c.246A>G	c.(244-246)ttA>ttG	p.L82L	PIGP_ENST00000399102.1_Silent_p.L58L|PIGP_ENST00000360525.4_Silent_p.L58L|PIGP_ENST00000399103.1_Silent_p.L58L|PIGP_ENST00000329667.3_5'UTR|PIGP_ENST00000399098.1_Silent_p.L32L	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	82					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				GGTAGACAGGTAATGCAACTG	0.388																																																	0													208.0	198.0	201.0					21																	38439662		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037162	CCDS13649.1, CCDS13650.1	21q22.2	2013-02-26	2006-06-28	2005-11-10	ENSG00000185808	ENSG00000185808	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	3046	protein-coding gene	gene with protein product	"""phosphatidylinositol-n-acetylglucosaminyltranferase subunit"""	605938	"""Down syndrome critical region gene 5"", ""phosphatidylinositol glycan, class P"""	DSCR5		10814524, 15221505	Standard	NR_028352		Approved	DCRC, DSRC	uc002yvw.1	P57054	OTTHUMG00000086653	ENST00000464265.1:c.246A>G	21.37:g.38439662T>C			B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6	Silent	SNP	pfam_PIG-P,pirsf_PIG-P_GPI19	p.L82	ENST00000464265.1	37	c.246	CCDS13649.1	21																																																																																			PIGP	-	pfam_PIG-P,pirsf_PIG-P_GPI19	ENSG00000185808		0.388	PIGP-004	KNOWN	basic|CCDS	protein_coding	PIGP	HGNC	protein_coding	OTTHUMT00000194769.2	-	0.00	66	0	T	NM_153681		38439662	-1	tier1	-	no_errors	ENST00000464265	ensembl	human	known	74_37	silent	12.70	55	8	SNP	0.996	C
PIGR	5284	genome.wustl.edu	37	1	207112680	207112680	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:207112680G>A	ENST00000356495.4	-	3	355	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	58	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTAGCTCCCTGCCGGCACCAG	0.582																																																	0													77.0	72.0	74.0					1																	207112680		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.172C>T	1.37:g.207112680G>A	ENSP00000348888:p.Gln58*		Q68D81|Q8IZY7	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Q58*	ENST00000356495.4	37	c.172	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.423186	0.96111	.	.	ENSG00000162896	ENST00000356495	.	.	.	5.45	3.55	0.40652	.	0.546372	0.17726	N	0.164050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.8027	12.7413	0.57255	0.0:0.2268:0.655:0.1181	.	.	.	.	X	58	.	ENSP00000348888:Q58X	Q	-	1	0	PIGR	205179303	0.001000	0.12720	0.958000	0.39756	0.741000	0.42261	0.502000	0.22594	0.349000	0.23975	-0.808000	0.03180	CAG	PIGR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000162896		0.582	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	-	0.00	41	0	G	NM_002644		207112680	-1	tier1	-	no_errors	ENST00000356495	ensembl	human	known	74_37	nonsense	39.53	26	17	SNP	0.203	A
PIGS	94005	genome.wustl.edu	37	17	26888605	26888605	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:26888605G>A	ENST00000308360.7	-	6	886	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.R163W|PIGS_ENST00000543734.1_Missense_Mutation_p.R110W	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	171					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.R171W(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					ATTATCCCCCGCACCACTGCT	0.552																																																	1	Substitution - Missense(1)	endometrium(1)											60.0	48.0	52.0					17																	26888605		2203	4300	6503	SO:0001583	missense	0				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.511C>T	17.37:g.26888605G>A	ENSP00000309430:p.Arg171Trp		Q6UVX6	Missense_Mutation	SNP	pfam_PtdIno-glycan_biosynth_class_S	p.R171W	ENST00000308360.7	37	c.511	CCDS11235.1	17	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264694	0.59431	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.46063	0.88;0.88;0.88	5.87	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.70595	2.14	0.39697	D	0.971131	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.981	T	0.57183	-0.7855	10	0.42905	T	0.14	-20.7512	7.1631	0.25675	0.0783:0.0:0.5874:0.3344	.	171;163	Q96S52;Q96S52-2	PIGS_HUMAN;.	W	163;171;110	ENSP00000378755:R163W;ENSP00000309430:R171W;ENSP00000438447:R110W	ENSP00000309430:R171W	R	-	1	2	PIGS	23912732	0.908000	0.30866	0.653000	0.29593	0.597000	0.36814	1.044000	0.30329	0.751000	0.32900	0.655000	0.94253	CGG	PIGS	-	pfam_PtdIno-glycan_biosynth_class_S	ENSG00000087111		0.552	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGS	HGNC	protein_coding	OTTHUMT00000255833.3		0.00	37	0	G	NM_033198		26888605	-1			no_errors	ENST00000308360	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.688	A
PIGT	51604	genome.wustl.edu	37	20	44050026	44050026	+	Frame_Shift_Del	DEL	C	C	-	rs530768714		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:44050026delC	ENST00000279036.6	+	9	1117	c.1037delC	c.(1036-1038)gccfs	p.A346fs	PIGT_ENST00000372689.5_Intron|PIGT_ENST00000543458.2_Frame_Shift_Del_p.A290fs|PIGT_ENST00000341555.5_Frame_Shift_Del_p.A152fs|PIGT_ENST00000545755.1_Frame_Shift_Del_p.A84fs|PIGT_ENST00000535404.1_Frame_Shift_Del_p.A191fs|PIGT_ENST00000279035.9_Frame_Shift_Del_p.A244fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TACACAGAGGCCCCCCCAGTG	0.577																																																	0													30.0	31.0	31.0					20																	44050026		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1037delC	20.37:g.44050026delC	ENSP00000279036:p.Ala346fs		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Frame_Shift_Del	DEL	pfam_PIG-T	p.P348fs	ENST00000279036.6	37	c.1037	CCDS13353.1	20																																																																																			PIGT	-	pfam_PIG-T	ENSG00000124155		0.577	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	HGNC	protein_coding	OTTHUMT00000079434.2		0.00	55	0	C	NM_015937		44050026	+1	tier1		no_errors	ENST00000279036	ensembl	human	known	74_37	frame_shift_del	14.71	29	5	DEL	0.666	-
PIK3C2B	5287	genome.wustl.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624																																																	1	Deletion - Frameshift(1)	lung(1)																																								SO:0001589	frameshift_variant	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.860dupC	1.37:g.204438078_204438078dupG	ENSP00000356155:p.Arg287fs		O95666|Q5SW99	Frame_Shift_Ins	INS	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.R287fs	ENST00000367187.3	37	c.860_859	CCDS1446.1	1																																																																																			PIK3C2B	-	NULL	ENSG00000133056		0.624	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1		0.00	57	0	-	NM_002646		204438072	-1	tier1		no_errors	ENST00000367187	ensembl	human	known	74_37	frame_shift_ins	32.56	29	14	INS	1.000:0.985	G
PIK3CD	5293	genome.wustl.edu	37	1	9780259	9780259	+	Missense_Mutation	SNP	G	G	A	rs572367173		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:9780259G>A	ENST00000377346.4	+	11	1624	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	PIK3CD_ENST00000361110.2_Missense_Mutation_p.E442K|PIK3CD_ENST00000543390.1_Missense_Mutation_p.E144K|PIK3CD_ENST00000536656.1_Missense_Mutation_p.E442K	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	477					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CTGCCTGCCCGAGGTGGCCCC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		15309	0.0		0.0	False		,,,				2504	0.001																0													33.0	33.0	33.0					1																	9780259		2203	4300	6503	SO:0001583	missense	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1429G>A	1.37:g.9780259G>A	ENSP00000366563:p.Glu477Lys		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E442K	ENST00000377346.4	37	c.1324	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054204	0.55218	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.54	5.54	0.83059	C2 calcium/lipid-binding domain, CaLB (1);	0.108690	0.64402	D	0.000005	T	0.51363	0.1670	L	0.36672	1.1	0.35416	D	0.792848	B;P;P	0.47350	0.135;0.894;0.819	B;B;B	0.36335	0.019;0.217;0.222	T	0.60016	-0.7345	10	0.06236	T	0.91	-45.2038	10.5885	0.45296	0.1177:0.0:0.8823:0.0	.	477;442;477	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	K	442;477;442;442;144	ENSP00000446444:E442K;ENSP00000366563:E477K;ENSP00000354410:E442K;ENSP00000443811:E144K	ENSP00000353766:E442K	E	+	1	0	PIK3CD	9702846	1.000000	0.71417	0.976000	0.42696	0.570000	0.35934	5.429000	0.66495	2.618000	0.88619	0.462000	0.41574	GAG	PIK3CD	-	superfamily_C2_dom	ENSG00000171608		0.697	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	-	0.00	93	0	G	NM_005026		9780259	+1	tier1	-	no_errors	ENST00000536656	ensembl	human	known	74_37	missense	15.15	56	10	SNP	0.998	A
PIK3R2	5296	genome.wustl.edu	37	19	18271903	18271903	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:18271903C>T	ENST00000593731.1	+	5	1066	c.506C>T	c.(505-507)gCc>gTc	p.A169V	PIK3R2_ENST00000222254.8_Missense_Mutation_p.A169V			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	169	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GACACGGCAGCCCTGGCTGAC	0.711																																																	0													19.0	21.0	20.0					19																	18271903		2197	4299	6496	SO:0001583	missense	0				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.506C>T	19.37:g.18271903C>T	ENSP00000471914:p.Ala169Val		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.A169V	ENST00000593731.1	37	c.506	CCDS12371.1	19	.	.	.	.	.	.	.	.	.	.	C	5.773	0.327073	0.10900	.	.	ENSG00000105647	ENST00000222254	T	0.18338	2.22	4.82	4.82	0.62117	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.394188	0.27618	N	0.018572	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22068	-1.0227	10	0.20519	T	0.43	-14.8689	15.4417	0.75187	0.0:1.0:0.0:0.0	.	169	O00459	P85B_HUMAN	V	169	ENSP00000222254:A169V	ENSP00000222254:A169V	A	+	2	0	PIK3R2	18132903	0.007000	0.16637	0.005000	0.12908	0.004000	0.04260	1.744000	0.38268	2.398000	0.81561	0.555000	0.69702	GCC	PIK3R2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000105647		0.711	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2	-	0.00	53	0	C	NM_005027		18271903	+1	tier1	-	no_errors	ENST00000222254	ensembl	human	known	74_37	missense	21.82	43	12	SNP	0.018	T
PIK3R3	8503	genome.wustl.edu	37	1	46509106	46509106	+	3'UTR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:46509106delA	ENST00000262741.5	-	0	2314				PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_3'UTR|PIK3R3_ENST00000372006.1_3'UTR|PIK3R3_ENST00000420542.1_3'UTR|PIK3R3_ENST00000340332.6_3'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)						insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	ACAGACTTTCAAAAAAAACAT	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.*239T>-	1.37:g.46509106delA			B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	RNA	DEL	-	NULL	ENST00000262741.5	37	NULL	CCDS529.1	1																																																																																			PIK3R3	-	-	ENSG00000117461		0.493	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1		0.00	36	0	A	NM_003629		46509106	-1	tier1		no_errors	ENST00000488808	ensembl	human	known	74_37	rna	11.76	30	4	DEL	0.001	-
PITRM1	10531	genome.wustl.edu	37	10	3181192	3181192	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:3181192A>G	ENST00000224949.4	-	25	2855	c.2821T>C	c.(2821-2823)Tgg>Cgg	p.W941R	PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.W942R|PITRM1_ENST00000380994.1_Missense_Mutation_p.W499R|PITRM1_ENST00000451104.2_Missense_Mutation_p.W843R|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	941					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GACTTAGCCCAGTCGACAGCC	0.468																																																	0													158.0	158.0	158.0					10																	3181192		1906	4113	6019	SO:0001583	missense	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2821T>C	10.37:g.3181192A>G	ENSP00000224949:p.Trp941Arg		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	p.W942R	ENST00000224949.4	37	c.2824	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	a	15.48	2.846801	0.51164	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.54	5.54	0.83059	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.057201	0.85682	D	0.000000	T	0.55401	0.1918	M	0.91196	3.185	0.80722	D	1	P;D;D;D;D;D	0.67145	0.837;0.96;0.996;0.996;0.984;0.996	B;P;D;D;D;D	0.72338	0.35;0.883;0.977;0.977;0.917;0.968	T	0.66803	-0.5831	10	0.87932	D	0	-17.7933	15.6753	0.77311	1.0:0.0:0.0:0.0	.	934;843;942;941;876;934	E9PDX6;E7ES23;C9JSL2;Q5JRX3;E9PDX7;B4DH07	.;.;.;PREP_HUMAN;.;.	R	941;934;942;499;843;122	ENSP00000224949:W941R;ENSP00000370377:W942R;ENSP00000370382:W499R;ENSP00000401201:W843R;ENSP00000399307:W122R	ENSP00000224949:W941R	W	-	1	0	PITRM1	3171192	1.000000	0.71417	0.996000	0.52242	0.007000	0.05969	8.280000	0.89903	2.100000	0.63781	0.379000	0.24179	TGG	PITRM1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	ENSG00000107959		0.468	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2		0.00	61	0	A			3181192	-1			no_errors	ENST00000380989	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	G
PITX2	5308	genome.wustl.edu	37	4	111543527	111543527	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:111543527G>T	ENST00000354925.2	-	6	1890				PITX2_ENST00000394595.3_Intron|PITX2_ENST00000394598.2_Intron|PITX2_ENST00000306732.3_Silent_p.P30P|PITX2_ENST00000557119.2_Silent_p.P30P|PITX2_ENST00000355080.5_Intron|PITX2_ENST00000556049.1_5'Flank	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2						atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTAACGGCTGGGGATGGTGAC	0.632																																																	0													26.0	27.0	27.0					4																	111543527		2199	4294	6493	SO:0001627	intron_variant	0			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.185-1002C>A	4.37:g.111543527G>T			A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Silent	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom	p.P30	ENST00000354925.2	37	c.90	CCDS3692.1	4																																																																																			PITX2	-	pirsf_Homeobox_Pitx/unc30	ENSG00000164093		0.632	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	-	0.00	130	0	G			111543527	-1	tier1	-	no_errors	ENST00000306732	ensembl	human	known	74_37	silent	8.33	88	8	SNP	1.000	T
PKD1	5310	genome.wustl.edu	37	16	2139829	2139829	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2139829G>A	ENST00000262304.4	-	46	13019	c.12811C>T	c.(12811-12813)Ccc>Tcc	p.P4271S	RP11-304L19.1_ENST00000570072.1_RNA|MIR1225_ENST00000408729.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.P4270S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4271					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGCGGCTGGGCAGTGCTGGC	0.721																																																	0													7.0	9.0	9.0					16																	2139829		2123	4176	6299	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12811C>T	16.37:g.2139829G>A	ENSP00000262304:p.Pro4271Ser		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.P4271S	ENST00000262304.4	37	c.12811	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977494	0.53720	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34275	1.37;1.37	4.51	2.44	0.29823	.	0.368012	0.24750	N	0.035901	T	0.37999	0.1024	L	0.59436	1.845	0.09310	N	1	B;P	0.49783	0.019;0.928	B;P	0.47603	0.005;0.551	T	0.18366	-1.0339	10	0.49607	T	0.09	.	8.6993	0.34316	0.0:0.3095:0.5309:0.1595	.	4270;4271	P98161-3;P98161	.;PKD1_HUMAN	S	4271;4270;3605	ENSP00000262304:P4271S;ENSP00000399501:P4270S	ENSP00000262304:P4271S	P	-	1	0	PKD1	2079830	0.996000	0.38824	0.070000	0.20053	0.071000	0.16799	2.765000	0.47621	0.300000	0.22699	0.491000	0.48974	CCC	PKD1	-	NULL	ENSG00000008710		0.721	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1		0.00	35	0	G			2139829	-1			no_errors	ENST00000262304	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.083	A
PKD1	5310	genome.wustl.edu	37	16	2148119	2148119	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2148119G>T	ENST00000262304.4	-	31	10259				RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Intron	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)						anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						tggatatatgggacatctgca	0.537																																																	0																																										SO:0001627	intron_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10051-134C>A	16.37:g.2148119G>T			Q15140|Q15141	RNA	SNP	-	NULL	ENST00000262304.4	37	NULL	CCDS32369.1	16																																																																																			PKD1	-	-	ENSG00000008710		0.537	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0.00	66	0	G			2148119	-1	tier1	-	no_errors	ENST00000566784	ensembl	human	putative	74_37	rna	25.00	39	13	SNP	0.000	T
PKD1L1	168507	genome.wustl.edu	37	7	47955186	47955186	+	Frame_Shift_Del	DEL	A	A	-	rs544774439	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:47955186delA	ENST00000289672.2	-	8	1121	c.1071delT	c.(1069-1071)tttfs	p.F357fs		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	357					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						gtaaaagatgaaaaaaaatac	0.299													|||unknown(LONG_INSERTION)	8	0.00159744	0.0008	0.0	5008	,	,		16915	0.0		0.0	False		,,,				2504	0.0072																0													48.0	48.0	48.0					7																	47955186		2203	4300	6503	SO:0001589	frameshift_variant	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1071delT	7.37:g.47955186delA	ENSP00000289672:p.Phe357fs		Q6UWK1	Frame_Shift_Del	DEL	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.H358fs	ENST00000289672.2	37	c.1071	CCDS34633.1	7																																																																																			PKD1L1	-	NULL	ENSG00000158683		0.299	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0.00	38	0	A	NM_138295		47955186	-1	tier1		no_errors	ENST00000289672	ensembl	human	known	74_37	frame_shift_del	39.13	14	9	DEL	0.006	-
PKDCC	91461	genome.wustl.edu	37	2	42280450	42280450	+	Silent	SNP	C	C	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:42280450C>G	ENST00000294964.5	+	2	891	c.711C>G	c.(709-711)gcC>gcG	p.A237A		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						AGCTGGGCGCCCCTGTAGAAA	0.602																																																	0													127.0	124.0	125.0					2																	42280450		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.711C>G	2.37:g.42280450C>G				Silent	SNP	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.A237	ENST00000294964.5	37	c.711	CCDS33186.2	2																																																																																			PKDCC	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000162878		0.602	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDCC	HGNC	protein_coding	OTTHUMT00000325745.3	-	0.00	51	0	C			42280450	+1	tier1	-	no_errors	ENST00000294964	ensembl	human	known	74_37	silent	16.07	47	9	SNP	0.994	G
PKDREJ	10343	genome.wustl.edu	37	22	46658462	46658462	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:46658462C>T	ENST00000253255.5	-	1	757	c.758G>A	c.(757-759)cGc>cAc	p.R253H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	253	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGCGATGGCGCGCGCGGCCGG	0.697																																																	0													24.0	30.0	28.0					22																	46658462		2198	4294	6492	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.758G>A	22.37:g.46658462C>T	ENSP00000253255:p.Arg253His		B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.R253H	ENST00000253255.5	37	c.758	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	C	1.203	-0.631947	0.03584	.	.	ENSG00000130943	ENST00000253255	T	0.67698	-0.28	4.08	-8.17	0.01057	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	4.304220	0.00508	N	0.000173	T	0.41190	0.1148	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35325	-0.9793	10	0.13470	T	0.59	4.6661	3.5783	0.07942	0.5499:0.1961:0.0822:0.1717	.	253	Q9NTG1	PKDRE_HUMAN	H	253	ENSP00000253255:R253H	ENSP00000253255:R253H	R	-	2	0	PKDREJ	45037126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.759000	0.01808	-4.986000	0.00025	-2.138000	0.00339	CGC	PKDREJ	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000130943		0.697	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	-	0.00	38	0	C	NM_006071		46658462	-1	tier1	-	no_errors	ENST00000253255	ensembl	human	known	74_37	missense	21.62	29	8	SNP	0.000	T
PKNOX1	5316	genome.wustl.edu	37	21	44433177	44433177	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:44433177G>T	ENST00000291547.5	+	5	562		c.e5-1		PKNOX1_ENST00000432907.2_Splice_Site	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1						angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CTCTGCTCTAGATGGTAAAAG	0.383																																																	0													120.0	119.0	120.0					21																	44433177		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.352-1G>T	21.37:g.44433177G>T			O00528|Q8IWT7	Splice_Site	SNP	-	e4-1	ENST00000291547.5	37	c.352-1	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015699	0.75161	.	.	ENSG00000160199	ENST00000291547	.	.	.	5.58	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5235	0.67870	0.0705:0.0:0.9295:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKNOX1	43306246	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	9.347000	0.97059	1.375000	0.46248	0.561000	0.74099	.	PKNOX1	-	-	ENSG00000160199		0.383	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3		0.00	61	0	G		Intron	44433177	+1			no_errors	ENST00000291547	ensembl	human	known	74_37	splice_site	6.06	62	4	SNP	1.000	T
PKNOX2	63876	genome.wustl.edu	37	11	125301354	125301354	+	3'UTR	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:125301354delG	ENST00000298282.9	+	0	1756				PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2						regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCTTCAGGGTGGGGGGGAAGG	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.*66G>-	11.37:g.125301354delG			B7Z5I5|F5GZ15|Q63HL6|Q86XD1	RNA	DEL	-	NULL	ENST00000298282.9	37	NULL	CCDS41730.1	11																																																																																			PKNOX2	-	-	ENSG00000165495		0.602	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	HGNC	protein_coding	OTTHUMT00000386866.3		0.00	16	0	G			125301354	+1	tier1		no_errors	ENST00000530517	ensembl	human	known	74_37	rna	35.29	11	6	DEL	0.181	-
PLA2G16	11145	genome.wustl.edu	37	11	63381549	63381549	+	5'UTR	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:63381549delG	ENST00000323646.5	-	0	292				PLA2G16_ENST00000415826.1_Intron|RP11-697H9.3_ENST00000542805.1_RNA|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI						glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						GTCTGAGGCAGGGGGAGCAGG	0.637																																																	0													15.0	17.0	17.0					11																	63381549		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"""adipose-specific PLA2"""	613867	"""HRAS-like suppressor 3"""	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.-63C>-	11.37:g.63381549delG			B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	RNA	DEL	-	NULL	ENST00000323646.5	37	NULL	CCDS8047.1	11																																																																																			PLA2G16	-	-	ENSG00000176485		0.637	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G16	HGNC	protein_coding	OTTHUMT00000396632.1		0.00	87	0	G	NM_001128203		63381549	-1	tier1		no_errors	ENST00000394613	ensembl	human	known	74_37	rna	24.19	47	15	DEL	0.000	-
PLA2G4F	255189	genome.wustl.edu	37	15	42437801	42437801	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:42437801C>T	ENST00000382396.4	-	16	1838	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E	PLA2G4F_ENST00000397272.3_Silent_p.E586E			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	584	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCTGTACCACTCCAGGAAGC	0.602																																																	0													104.0	111.0	109.0					15																	42437801		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1752G>A	15.37:g.42437801C>T			Q6ZMC8	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.E586	ENST00000382396.4	37	c.1758	CCDS32204.1	15																																																																																			PLA2G4F	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000168907		0.602	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	-	0.00	96	0	C	NM_213600		42437801	-1	tier1	-	no_errors	ENST00000397272	ensembl	human	known	74_37	silent	21.74	54	15	SNP	0.106	T
PLA2R1	22925	genome.wustl.edu	37	2	160885468	160885468	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:160885468A>G	ENST00000283243.7	-	5	1054	c.848T>C	c.(847-849)aTg>aCg	p.M283T	PLA2R1_ENST00000392771.1_Missense_Mutation_p.M283T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	283	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTTACTGCTCATGTGCTCTGA	0.438																																																	0													82.0	69.0	74.0					2																	160885468		2203	4300	6503	SO:0001583	missense	0			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.848T>C	2.37:g.160885468A>G	ENSP00000283243:p.Met283Thr		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.M283T	ENST00000283243.7	37	c.848	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	A	11.18	1.561638	0.27915	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.16196	2.36;2.36	5.83	5.83	0.93111	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.236887	0.33346	N	0.005011	T	0.08268	0.0206	N	0.02275	-0.615	0.09310	N	1	B;B;B	0.14012	0.009;0.003;0.004	B;B;B	0.20577	0.03;0.008;0.021	T	0.31392	-0.9945	10	0.22706	T	0.39	.	15.1831	0.72975	1.0:0.0:0.0:0.0	.	283;283;283	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	T	283	ENSP00000283243:M283T;ENSP00000376524:M283T	ENSP00000283243:M283T	M	-	2	0	PLA2R1	160593714	0.318000	0.24598	0.007000	0.13788	0.647000	0.38526	6.081000	0.71309	2.227000	0.72691	0.528000	0.53228	ATG	PLA2R1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000153246		0.438	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	-	0.00	38	0	A			160885468	-1	tier1	-	no_errors	ENST00000283243	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.018	G
PLAGL2	5326	genome.wustl.edu	37	20	30784466	30784466	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:30784466G>A	ENST00000246229.4	-	3	1544	c.1280C>T	c.(1279-1281)cCg>cTg	p.P427L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	427					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGGTTACACGGGGGCAGGTT	0.612																																					Colon(163;15 1893 11280 16306 47518)												0													25.0	27.0	26.0					20																	30784466		2203	4300	6503	SO:0001583	missense	0				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1280C>T	20.37:g.30784466G>A	ENSP00000246229:p.Pro427Leu		A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P427L	ENST00000246229.4	37	c.1280	CCDS13197.1	20	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675205	0.47781	.	.	ENSG00000126003	ENST00000246229	T	0.15487	2.42	4.99	4.99	0.66335	.	0.058425	0.64402	D	0.000001	T	0.20373	0.0490	L	0.58810	1.83	0.80722	D	1	D	0.54601	0.967	B	0.38562	0.276	T	0.08249	-1.0731	10	0.87932	D	0	.	18.4893	0.90841	0.0:0.0:1.0:0.0	.	427	Q9UPG8	PLAL2_HUMAN	L	427	ENSP00000246229:P427L	ENSP00000246229:P427L	P	-	2	0	PLAGL2	30248127	1.000000	0.71417	0.955000	0.39395	0.895000	0.52256	9.646000	0.98474	2.590000	0.87494	0.650000	0.86243	CCG	PLAGL2	-	NULL	ENSG00000126003		0.612	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL2	HGNC	protein_coding	OTTHUMT00000078615.2	-	0.00	72	0	G	NM_002657		30784466	-1	tier1	-	no_errors	ENST00000246229	ensembl	human	known	74_37	missense	12.12	58	8	SNP	1.000	A
PLB1	151056	genome.wustl.edu	37	2	28827531	28827531	+	Missense_Mutation	SNP	C	C	T	rs145179606		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:28827531C>T	ENST00000327757.5	+	41	2910	c.2866C>T	c.(2866-2868)Cgc>Tgc	p.R956C	PLB1_ENST00000422425.2_Missense_Mutation_p.R945C|PLB1_ENST00000541605.1_Intron	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	956	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGCAGCATGCGCGAGCTGGT	0.637																																																	0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	101.0	84.0	90.0		2833,2866	4.5	0.8	2	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PLB1	NM_001170585.1,NM_153021.4	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	945/1448,956/1459	28827531	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2866C>T	2.37:g.28827531C>T	ENSP00000330442:p.Arg956Cys		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL	p.R945C	ENST00000327757.5	37	c.2833	CCDS33168.1	2	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299512	0.60195	0.0	2.33E-4	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.25749	1.78;1.78	5.42	4.52	0.55395	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.814755	0.10945	N	0.616761	T	0.45895	0.1365	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65874	0.899;0.939	T	0.06250	-1.0837	10	0.36615	T	0.2	-3.2672	13.0378	0.58881	0.1623:0.8377:0.0:0.0	.	945;956	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	C	956;945	ENSP00000330442:R956C;ENSP00000416440:R945C	ENSP00000330442:R956C	R	+	1	0	PLB1	28681035	0.331000	0.24713	0.769000	0.31535	0.681000	0.39784	1.723000	0.38053	1.217000	0.43442	0.655000	0.94253	CGC	PLB1	-	pfam_Lipase_GDSL	ENSG00000163803		0.637	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	-	0.00	50	0	C			28827531	+1	tier1	rs145179606	no_errors	ENST00000422425	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.945	T
PLCB2	5330	genome.wustl.edu	37	15	40596215	40596215	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:40596215G>A	ENST00000260402.3	-	2	398	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.T50M|PLCB2_ENST00000543785.2_Missense_Mutation_p.T50M|PLCB2_ENST00000456256.2_Missense_Mutation_p.T50M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	50					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACTTTGATACGTCCAGTATAA	0.527																																																	0													82.0	86.0	85.0					15																	40596215		2020	4166	6186	SO:0001583	missense	0				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.149C>T	15.37:g.40596215G>A	ENSP00000260402:p.Thr50Met		A8K6J2|B9EGH5	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.T50M	ENST00000260402.3	37	c.149	CCDS42020.1	15	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841379	0.51057	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.46819	0.86;0.86;0.86	4.43	4.43	0.53597	.	0.297680	0.19776	U	0.106330	T	0.43875	0.1267	L	0.33792	1.035	0.38498	D	0.948141	D;D;D;P	0.59767	0.961;0.977;0.986;0.941	P;P;B;P	0.46362	0.464;0.474;0.443;0.514	T	0.51450	-0.8704	10	0.49607	T	0.09	.	15.9676	0.79985	0.0:0.0:1.0:0.0	.	50;50;50;50	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	M	50	ENSP00000260402:T50M;ENSP00000411991:T50M;ENSP00000444652:T50M	ENSP00000260402:T50M	T	-	2	0	PLCB2	38383507	1.000000	0.71417	0.998000	0.56505	0.648000	0.38561	4.918000	0.63376	2.164000	0.68074	0.655000	0.94253	ACG	PLCB2	-	pirsf_PLC-beta	ENSG00000137841		0.527	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	-	0.00	36	0	G			40596215	-1	tier1	-	no_errors	ENST00000260402	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.993	A
PLD4	122618	genome.wustl.edu	37	14	105398428	105398428	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105398428G>A	ENST00000392593.4	+	9	1306	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R	PLD4_ENST00000540372.1_Missense_Mutation_p.G387R|PLD4_ENST00000553861.1_5'Flank	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	380					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GGTCGGCTGCGGACTCAACAC	0.711																																																	0													18.0	23.0	22.0					14																	105398428		2059	4189	6248	SO:0001583	missense	0				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.1138G>A	14.37:g.105398428G>A	ENSP00000376372:p.Gly380Arg		Q6UWD2	Missense_Mutation	SNP	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.G380R	ENST00000392593.4	37	c.1138	CCDS9995.2	14	.	.	.	.	.	.	.	.	.	.	G	15.25	2.779180	0.49891	.	.	ENSG00000166428	ENST00000540372;ENST00000392593	T;T	0.22945	1.93;1.93	4.15	-0.47	0.12131	Phospholipase D/viral envelope (1);	0.307989	0.29876	N	0.010963	T	0.35711	0.0941	L	0.59436	1.845	0.80722	D	1	D;D	0.54601	0.959;0.967	P;P	0.54431	0.637;0.752	T	0.37430	-0.9706	10	0.87932	D	0	-9.5553	13.0844	0.59132	0.0:0.0:0.4896:0.5104	.	387;380	F5H2B5;Q96BZ4	.;PLD4_HUMAN	R	387;380	ENSP00000438677:G387R;ENSP00000376372:G380R	ENSP00000376372:G380R	G	+	1	0	PLD4	104469473	1.000000	0.71417	0.723000	0.30687	0.098000	0.18820	2.233000	0.43027	0.123000	0.18342	-0.408000	0.06270	GGA	PLD4	-	NULL	ENSG00000166428		0.711	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLD4	HGNC	protein_coding	OTTHUMT00000291348.2	-	0.00	59	0	G	NM_138790		105398428	+1	tier1	-	no_errors	ENST00000392593	ensembl	human	known	74_37	missense	32.00	34	16	SNP	0.999	A
PLEKHA2	59339	genome.wustl.edu	37	8	38809686	38809686	+	Silent	SNP	C	C	T	rs533387323	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:38809686C>T	ENST00000521746.1	+	7	723	c.489C>T	c.(487-489)aaC>aaT	p.N163N	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000420274.1_Silent_p.N163N			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	163					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CCTTGCAGAACGGTGGGGATG	0.607													C|||	2	0.000399361	0.0	0.0	5008	,	,		16052	0.001		0.0	False		,,,				2504	0.001																0													50.0	58.0	55.0					8																	38809686		2145	4242	6387	SO:0001819	synonymous_variant	0			AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.489C>T	8.37:g.38809686C>T				Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N163	ENST00000521746.1	37	c.489		8																																																																																			PLEKHA2	-	NULL	ENSG00000169499		0.607	PLEKHA2-002	PUTATIVE	basic	protein_coding	PLEKHA2	HGNC	protein_coding	OTTHUMT00000377068.1	-	0.00	34	0	C	NM_021623		38809686	+1	tier1	-	no_errors	ENST00000420274	ensembl	human	known	74_37	silent	15.79	32	6	SNP	0.942	T
PLEC	5339	genome.wustl.edu	37	8	144994758	144994758	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:144994758G>A	ENST00000322810.4	-	32	9811	c.9642C>T	c.(9640-9642)acC>acT	p.T3214T	PLEC_ENST00000527096.1_Silent_p.T3100T|PLEC_ENST00000436759.2_Silent_p.T3104T|PLEC_ENST00000357649.2_Silent_p.T3081T|PLEC_ENST00000354589.3_Silent_p.T3077T|PLEC_ENST00000354958.2_Silent_p.T3055T|PLEC_ENST00000356346.3_Silent_p.T3063T|PLEC_ENST00000398774.2_Silent_p.T3045T|PLEC_ENST00000345136.3_Silent_p.T3077T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3214	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCGTCCACGGTCAGCCGGG	0.652																																																	0													23.0	27.0	26.0					8																	144994758		2032	4183	6215	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9642C>T	8.37:g.144994758G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.T3214	ENST00000322810.4	37	c.9642	CCDS43772.1	8																																																																																			PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000178209		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0.00	59	0	G	NM_000445		144994758	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	silent	29.41	60	25	SNP	0.004	A
PLEKHA3	65977	genome.wustl.edu	37	2	179350399	179350399	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:179350399T>C	ENST00000234453.5	+	2	474	c.72T>C	c.(70-72)aaT>aaC	p.N24N	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	24	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TTTTAGATAATGGAATCTTAT	0.348																																																	0													120.0	118.0	119.0					2																	179350399		2203	4300	6503	SO:0001819	synonymous_variant	0			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.72T>C	2.37:g.179350399T>C			Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N24	ENST00000234453.5	37	c.72	CCDS33336.1	2																																																																																			PLEKHA3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000116095		0.348	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA3	HGNC	protein_coding	OTTHUMT00000335241.2	-	0.00	26	0	T	NM_019091		179350399	+1	tier1	-	no_errors	ENST00000234453	ensembl	human	known	74_37	silent	18.75	13	3	SNP	1.000	C
PLEKHA4	57664	genome.wustl.edu	37	19	49344468	49344468	+	Missense_Mutation	SNP	G	G	A	rs370885533		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49344468G>A	ENST00000263265.6	-	17	2398	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	PLEKHA4_ENST00000355496.5_Intron	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	615						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTGAGAAGCCGGGGGGAGGTC	0.711																																																	0									TRP/ARG,	1,4405	2.1+/-5.4	0,1,2202	26.0	27.0	26.0		1843,	-2.1	0.0	19		26	0,8598		0,0,4299	no	missense,intron	PLEKHA4	NM_020904.2,NM_001161354.1	101,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,	615/780,	49344468	1,13003	2203	4299	6502	SO:0001583	missense	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1843C>T	19.37:g.49344468G>A	ENSP00000263265:p.Arg615Trp		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R615W	ENST00000263265.6	37	c.1843	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	g	12.35	1.910497	0.33721	2.27E-4	0.0	ENSG00000105559	ENST00000263265	T	0.27104	1.69	4.27	-2.08	0.07254	.	0.191195	0.25230	N	0.032169	T	0.13200	0.0320	L	0.27053	0.805	0.09310	N	1	P	0.51537	0.946	B	0.40565	0.333	T	0.25047	-1.0143	10	0.66056	D	0.02	.	6.1324	0.20213	0.0:0.2866:0.2626:0.4508	.	615	Q9H4M7	PKHA4_HUMAN	W	615	ENSP00000263265:R615W	ENSP00000263265:R615W	R	-	1	2	PLEKHA4	54036280	0.000000	0.05858	0.000000	0.03702	0.630000	0.37929	-0.007000	0.12810	-0.022000	0.13986	0.436000	0.28706	CGG	PLEKHA4	-	NULL	ENSG00000105559		0.711	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	-	0.00	143	0	G			49344468	-1	tier1	-	no_errors	ENST00000263265	ensembl	human	known	74_37	missense	24.43	99	32	SNP	0.000	A
PLEKHA4	57664	genome.wustl.edu	37	19	49344558	49344558	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49344558C>T	ENST00000263265.6	-	17	2308	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T	PLEKHA4_ENST00000355496.5_Intron	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	585						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CGGGGCCGGGCCACCGGGGCC	0.647																																																	0													20.0	23.0	22.0					19																	49344558		2202	4297	6499	SO:0001583	missense	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1753G>A	19.37:g.49344558C>T	ENSP00000263265:p.Ala585Thr		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A585T	ENST00000263265.6	37	c.1753	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	c	8.606	0.888019	0.17540	.	.	ENSG00000105559	ENST00000263265	T	0.25250	1.81	4.57	1.51	0.23008	.	0.929398	0.08843	N	0.885619	T	0.16171	0.0389	L	0.29908	0.895	0.18873	N	0.999982	B	0.02656	0.0	B	0.04013	0.001	T	0.31888	-0.9927	10	0.10636	T	0.68	.	8.0299	0.30459	0.1569:0.6462:0.1968:0.0	.	585	Q9H4M7	PKHA4_HUMAN	T	585	ENSP00000263265:A585T	ENSP00000263265:A585T	A	-	1	0	PLEKHA4	54036370	0.045000	0.20229	0.521000	0.27850	0.305000	0.27757	0.054000	0.14205	1.037000	0.40024	0.436000	0.28706	GCC	PLEKHA4	-	NULL	ENSG00000105559		0.647	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	-	0.00	85	0	C			49344558	-1	tier1	-	no_errors	ENST00000263265	ensembl	human	known	74_37	missense	20.00	60	15	SNP	0.160	T
PLEKHA6	22874	genome.wustl.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:204228411delC	ENST00000272203.3	-	8	1298	c.982delG	c.(982-984)gtafs	p.V328fs	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.V348fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	328	Pro-rich.							p.V328fs*172(2)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGGGGTACCCCCCGGCGC	0.622																																																	2	Deletion - Frameshift(2)	large_intestine(2)											43.0	47.0	46.0					1																	204228411		2203	4300	6503	SO:0001589	frameshift_variant	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.982delG	1.37:g.204228411delC	ENSP00000272203:p.Val328fs		A7MD51|Q5VTI6	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V328fs	ENST00000272203.3	37	c.982	CCDS1444.1	1																																																																																			PLEKHA6	-	NULL	ENSG00000143850		0.622	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3		0.00	50	0	C	NM_014935		204228411	-1	tier1		no_errors	ENST00000272203	ensembl	human	known	74_37	frame_shift_del	32.14	38	18	DEL	0.000	-
PLEKHH3	79990	genome.wustl.edu	37	17	40823464	40823464	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:40823464C>T	ENST00000591022.1	-	8	1576	c.1189G>A	c.(1189-1191)Gcg>Acg	p.A397T	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.A397T|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A397T	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	397	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGGCTCAACGCGGAAATCTCC	0.677																																																	0													31.0	28.0	29.0					17																	40823464		2202	4299	6501	SO:0001583	missense	0			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1189G>A	17.37:g.40823464C>T	ENSP00000468678:p.Ala397Thr		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.A397T	ENST00000591022.1	37	c.1189	CCDS11434.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200087	0.79015	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	D;D	0.94687	-3.49;-3.49	4.7	4.7	0.59300	MyTH4 domain (2);	0.000000	0.42964	D	0.000634	D	0.89677	0.6784	L	0.37897	1.145	0.30482	N	0.772274	P;P	0.49307	0.904;0.922	B;B	0.36845	0.15;0.234	D	0.89410	0.3702	10	0.59425	D	0.04	-24.7099	13.8755	0.63651	0.0:0.8463:0.1537:0.0	.	397;397	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	T	59;397;397	ENSP00000293349:A397T;ENSP00000411885:A397T	ENSP00000293349:A397T	A	-	1	0	PLEKHH3	38076990	0.998000	0.40836	0.950000	0.38849	0.581000	0.36288	4.745000	0.62125	2.166000	0.68216	0.561000	0.74099	GCG	PLEKHH3	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000068137		0.677	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	-	0.00	90	0	C	NM_024927		40823464	-1	tier1	-	no_errors	ENST00000591022	ensembl	human	known	74_37	missense	17.39	57	12	SNP	0.655	T
PLEKHM3	389072	genome.wustl.edu	37	2	208841894	208841894	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:208841894T>C	ENST00000427836.2	-	3	1516	c.1027A>G	c.(1027-1029)Acc>Gcc	p.T343A	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.T343A|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.T343A	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	343					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCCCACTGGTTTTCTTCTGG	0.512																																																	0													104.0	104.0	104.0					2																	208841894		1957	4154	6111	SO:0001583	missense	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1027A>G	2.37:g.208841894T>C	ENSP00000417003:p.Thr343Ala		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T343A	ENST00000427836.2	37	c.1027	CCDS42808.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.436|0.436	-0.901097|-0.901097	0.02453|0.02453	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000447645|ENST00000427836;ENST00000389247;ENST00000457206	.|T;T;T	.|0.12147	.|2.71;2.71;2.71	5.82|5.82	-6.85|-6.85	0.01681|0.01681	.|.	.|1.542140	.|0.03154	.|N	.|0.168379	T|T	0.05777|0.05777	0.0151|0.0151	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.29549|0.29549	-1.0008|-1.0008	5|10	.|0.48119	.|T	.|0.1	.|.	2.6315|2.6315	0.04946|0.04946	0.1667:0.3058:0.3451:0.1824|0.1667:0.3058:0.3451:0.1824	.|.	.|343;343	.|C9J119;Q6ZWE6	.|.;PKHM3_HUMAN	S|A	94|343	.|ENSP00000417003:T343A;ENSP00000373899:T343A;ENSP00000400150:T343A	.|ENSP00000373899:T343A	N|T	-|-	2|1	0|0	PLEKHM3|PLEKHM3	208550139|208550139	0.868000|0.868000	0.29978|0.29978	0.009000|0.009000	0.14445|0.14445	0.017000|0.017000	0.09413|0.09413	0.296000|0.296000	0.19083|0.19083	-1.618000|-1.618000	0.01568|0.01568	-1.162000|-1.162000	0.01777|0.01777	AAC|ACC	PLEKHM3	-	NULL	ENSG00000178385		0.512	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1		0.00	34	0	T	NM_001080475		208841894	-1			no_errors	ENST00000427836	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.000	C
PLG	5340	genome.wustl.edu	37	6	161132169	161132170	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:161132169_161132170insA	ENST00000308192.9	+	4	416_417	c.353_354insA	c.(352-357)acaaaafs	p.TK118fs	PLG_ENST00000366924.2_Frame_Shift_Ins_p.TK118fs|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	118	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATGTCCAAAACAAAAAATGGCA	0.436																																																	0																																										SO:0001589	frameshift_variant	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.359dupA	6.37:g.161132175_161132175dupA	ENSP00000308938:p.Thr118fs		Q15146|Q5TEH4|Q6PA00	Frame_Shift_Ins	INS	pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1	p.N120fs	ENST00000308192.9	37	c.353_354	CCDS5279.1	6																																																																																			PLG	-	pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000122194		0.436	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2		0.00	259	0	-	NM_000301		161132170	+1	tier1		no_errors	ENST00000308192	ensembl	human	known	74_37	frame_shift_ins	11.11	240	30	INS	0.028:0.033	A
PLG	5340	genome.wustl.edu	37	6	161134306	161134306	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:161134306delT	ENST00000308192.9	+	5	610				PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTAACCTGAAttttttttttt	0.438																																																	0																																										SO:0001627	intron_variant	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.547+149T>-	6.37:g.161134306delT			Q15146|Q5TEH4|Q6PA00	RNA	DEL	-	NULL	ENST00000308192.9	37	NULL	CCDS5279.1	6																																																																																			PLG	-	-	ENSG00000122194		0.438	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2		0.00	22	0	T	NM_000301		161134306	+1	tier1		no_errors	ENST00000462918	ensembl	human	known	74_37	rna	13.79	25	4	DEL	0.003	-
PLIN2	123	genome.wustl.edu	37	9	19108507	19108508	+	RNA	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:19108507_19108508insA	ENST00000583933.1	-	0	0									RNA, 7SL, cytoplasmic 158, pseudogene																		CCAATGTAGCCAAAAAATAGAT	0.282																																																	0																																												0					9p22.1	2013-04-02			ENSG00000264126			"""ncRNAs / Small cytoplasmic RNAs"""	46174	pseudogene	RNA, pseudogene							Standard			Approved						9.37:g.19108513_19108513dupA				RNA	INS	-	NULL	ENST00000583933.1	37	NULL		9																																																																																			PLIN2	-	-	ENSG00000147872		0.282	RN7SL158P-201	KNOWN	basic	misc_RNA	PLIN2	HGNC	misc_RNA			0.00	10	0	-			19108508	-1	tier1		no_errors	ENST00000464326	ensembl	human	known	74_37	rna	26.67	11	4	INS	0.002:0.029	A
PLIN4	729359	genome.wustl.edu	37	19	4516633	4516633	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4516633T>C	ENST00000301286.3	-	2	208	c.209A>G	c.(208-210)gAa>gGa	p.E70G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	70						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTCACCTTTTCCGAAGGTTG	0.642																																																	0													47.0	52.0	50.0					19																	4516633		2004	4160	6164	SO:0001583	missense	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.209A>G	19.37:g.4516633T>C	ENSP00000301286:p.Glu70Gly		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.E70G	ENST00000301286.3	37	c.209	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	T	5.240	0.229711	0.09916	.	.	ENSG00000167676	ENST00000301286	T	0.11063	2.81	2.66	0.54	0.17163	.	.	.	.	.	T	0.03520	0.0101	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42565	-0.9444	9	0.33940	T	0.23	.	4.6452	0.12568	0.0:0.303:0.0:0.697	.	70	Q96Q06	PLIN4_HUMAN	G	70	ENSP00000301286:E70G	ENSP00000301286:E70G	E	-	2	0	PLIN4	4467633	0.719000	0.27986	0.017000	0.16124	0.054000	0.15201	0.548000	0.23314	0.051000	0.15978	-0.607000	0.04081	GAA	PLIN4	-	pfam_Perilipin	ENSG00000167676		0.642	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	-	0.00	84	0	T	XM_170901		4516633	-1	tier1	-	no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	26.56	47	17	SNP	0.020	C
PLK1	5347	genome.wustl.edu	37	16	23695251	23695251	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:23695251C>T	ENST00000300093.4	+	5	988	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TCCCACTGCCCGCCCAACCAT	0.547																																					Colon(12;240 564 27038 33155)												0													232.0	242.0	238.0					16																	23695251		2197	4300	6497	SO:0001583	missense	0				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.877C>T	16.37:g.23695251C>T	ENSP00000300093:p.Arg293Cys		Q15153|Q99746	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.R293C	ENST00000300093.4	37	c.877	CCDS10616.1	16	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193936	0.78902	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.72051	-0.62	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89808	0.6822	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92524	0.6027	10	0.87932	D	0	-26.3958	11.5873	0.50925	0.1783:0.8217:0.0:0.0	.	293	P53350	PLK1_HUMAN	C	293;196	ENSP00000300093:R293C	ENSP00000300093:R293C	R	+	1	0	PLK1	23602752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.392000	0.52537	2.560000	0.86352	0.655000	0.94253	CGC	PLK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000166851		0.547	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK1	HGNC	protein_coding	OTTHUMT00000214057.2	-	0.00	61	0	C	NM_005030		23695251	+1	tier1	-	no_errors	ENST00000300093	ensembl	human	known	74_37	missense	20.00	60	15	SNP	1.000	T
PLXDC2	84898	genome.wustl.edu	37	10	20569079	20569079	+	3'UTR	DEL	A	A	-	rs199670298	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:20569079delA	ENST00000377252.4	+	0	2762				PLXDC2_ENST00000377242.3_3'UTR|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2						multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AAGGGATCAGAAAAAAAAAAT	0.383													|||unknown(HR)	237	0.0473243	0.0023	0.1945	5008	,	,		18708	0.0813		0.0099	False		,,,				2504	0.0072																0																																										SO:0001624	3_prime_UTR_variant	0			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.*331A>-	10.37:g.20569079delA			Q96E59|Q96PD9|Q96SU9	RNA	DEL	-	NULL	ENST00000377252.4	37	NULL	CCDS7132.1	10																																																																																			PLXDC2	-	-	ENSG00000120594		0.383	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	HGNC	protein_coding	OTTHUMT00000047101.2		0.00	38	0	A	NM_032812		20569079	+1	tier1		no_errors	ENST00000377238	ensembl	human	known	74_37	rna	31.25	22	10	DEL	0.001	-
PLXNA1	5361	genome.wustl.edu	37	3	126708216	126708216	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:126708216G>A	ENST00000393409.2	+	1	780	c.780G>A	c.(778-780)acG>acA	p.T260T	PLXNA1_ENST00000251772.4_Silent_p.T237T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	260	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTACCTCACGCTGCAGCTAG	0.562																																																	0													90.0	85.0	86.0					3																	126708216		2203	4300	6503	SO:0001819	synonymous_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.780G>A	3.37:g.126708216G>A				Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.T260	ENST00000393409.2	37	c.780	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000114554		0.562	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	-	0.00	29	0	G	NM_032242		126708216	+1	tier1	-	no_errors	ENST00000393409	ensembl	human	known	74_37	silent	44.12	19	15	SNP	0.030	A
PLXNA1	5361	genome.wustl.edu	37	3	126748821	126748821	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:126748821A>G	ENST00000393409.2	+	27	4975	c.4975A>G	c.(4975-4977)Aac>Gac	p.N1659D	PLXNA1_ENST00000251772.4_Missense_Mutation_p.N1636D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1659					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGGTGAAGAACCACGACCA	0.667																																																	0													99.0	97.0	98.0					3																	126748821		2203	4300	6503	SO:0001583	missense	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4975A>G	3.37:g.126748821A>G	ENSP00000377061:p.Asn1659Asp			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.N1659D	ENST00000393409.2	37	c.4975	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	A	18.50	3.637329	0.67130	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11385	2.78;2.78	3.71	3.71	0.42584	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.29524	0.0736	M	0.70275	2.135	0.54753	D	0.999983	D;D	0.89917	0.991;1.0	D;D	0.97110	0.966;1.0	T	0.02365	-1.1170	10	0.37606	T	0.19	.	12.8438	0.57819	1.0:0.0:0.0:0.0	.	273;1659	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	D	1659;1636	ENSP00000377061:N1659D;ENSP00000251772:N1636D	ENSP00000251772:N1636D	N	+	1	0	PLXNA1	128231511	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	9.059000	0.93902	1.682000	0.51000	0.260000	0.18958	AAC	PLXNA1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000114554		0.667	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1		0.00	47	0	A	NM_032242		126748821	+1			no_errors	ENST00000393409	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	G
PLXNA4	91584	genome.wustl.edu	37	7	131912284	131912284	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:131912284C>A	ENST00000359827.3	-	7	2770	c.1808G>T	c.(1807-1809)gGg>gTg	p.G603V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G603V			Q9HCM2	PLXA4_HUMAN	plexin A4	603					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACGACCAGCCCATCCATCTC	0.607																																																	0													72.0	76.0	75.0					7																	131912284		2083	4221	6304	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1808G>T	7.37:g.131912284C>A	ENSP00000352882:p.Gly603Val		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G603V	ENST00000359827.3	37	c.1808	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467582	0.84533	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00949	5.51;5.51	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000024	T	0.04952	0.0133	M	0.64170	1.965	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	T	0.23691	-1.0181	10	0.87932	D	0	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	603	Q9HCM2	PLXA4_HUMAN	V	603	ENSP00000323194:G603V;ENSP00000352882:G603V	ENSP00000323194:G603V	G	-	2	0	PLXNA4	131562824	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.734000	0.62043	2.722000	0.93159	0.655000	0.94253	GGG	PLXNA4	-	NULL	ENSG00000221866		0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0.00	49	0	C	NM_181775		131912284	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	A
PLXNB3	5365	genome.wustl.edu	37	X	153043747	153043747	+	Missense_Mutation	SNP	G	G	A	rs369580403		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:153043747G>A	ENST00000361971.5	+	33	5555	c.5441G>A	c.(5440-5442)cGg>cAg	p.R1814Q	SRPK3_ENST00000393786.3_5'Flank|PLXNB3_ENST00000485980.1_3'UTR|SRPK3_ENST00000489426.1_5'UTR|SRPK3_ENST00000370108.3_5'Flank|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1837Q|SRPK3_ENST00000370101.3_5'Flank|SRPK3_ENST00000370104.1_5'Flank|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R1467Q|SRPK3_ENST00000370100.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1814					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTACGCCCGGGAGATCCCA	0.642																																																	0								G	GLN/ARG,GLN/ARG	0,3834		0,0,1632,570	58.0	56.0	56.0		5510,5441	3.3	1.0	X		56	1,6727		0,1,2427,1872	no	missense,missense	PLXNB3	NM_001163257.1,NM_005393.2	43,43	0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	1837/1933,1814/1910	153043747	1,10561	2202	4300	6502	SO:0001583	missense	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5441G>A	X.37:g.153043747G>A	ENSP00000355378:p.Arg1814Gln		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1837Q	ENST00000361971.5	37	c.5510	CCDS14729.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.925501|4.925501	0.92319|0.92319	0.0|0.0	1.49E-4|1.49E-4	ENSG00000198753|ENSG00000198753	ENST00000448847|ENST00000538966;ENST00000361971;ENST00000538776	.|T;T;T	.|0.12774	.|2.65;2.65;2.65	5.22|5.22	3.34|3.34	0.38264|0.38264	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|0.051037	.|0.85682	.|N	.|0.000000	T|T	0.38480|0.38480	0.1042|0.1042	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.993;1.0	T|T	0.17258|0.17258	-1.0375|-1.0375	5|10	.|0.87932	.|D	.|0	.|.	10.0051|10.0051	0.41953|0.41953	0.1838:0.0:0.8162:0.0|0.1838:0.0:0.8162:0.0	.|.	.|1467;1837;1814	.|B7Z3H9;F5H773;Q9ULL4	.|.;.;PLXB3_HUMAN	R|Q	173|1837;1814;1467	.|ENSP00000442736:R1837Q;ENSP00000355378:R1814Q;ENSP00000445569:R1467Q	.|ENSP00000355378:R1814Q	G|R	+|+	1|2	0|0	PLXNB3|PLXNB3	152696941|152696941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.829000|0.829000	0.46940|0.46940	7.745000|7.745000	0.85046|0.85046	0.449000|0.449000	0.26747|0.26747	-0.395000|-0.395000	0.06472|0.06472	GGG|CGG	PLXNB3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000198753		0.642	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	-	0.00	80	0	G			153043747	+1	tier1	-	no_errors	ENST00000538966	ensembl	human	known	74_37	missense	13.56	51	8	SNP	1.000	A
PMEPA1	56937	genome.wustl.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:56227348_56227349insG	ENST00000341744.3	-	4	943_944	c.624_625insC	c.(622-627)cccagcfs	p.S209fs	PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.S174fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.S159fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	209					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683																																																	0									,,,	19,4245		0,19,2113					,,,	5.5	1.0			31	10,8236		0,10,4113	no	frameshift,frameshift,frameshift,frameshift	PMEPA1	NM_199171.1,NM_199170.1,NM_199169.1,NM_020182.3	,,,	0,29,6226	A1A1,A1R,RR		0.1213,0.4456,0.2318	,,,	,,,		29,12481				SO:0001589	frameshift_variant	0			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.625dupC	20.37:g.56227355_56227355dupG	ENSP00000345826:p.Ser209fs		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Ins	INS	NULL	p.S208fs	ENST00000341744.3	37	c.625_624	CCDS13463.1	20																																																																																			PMEPA1	-	NULL	ENSG00000124225		0.683	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEPA1	HGNC	protein_coding	OTTHUMT00000079858.2		0.00	51	0	-	NM_020182		56227349	-1	tier1		no_errors	ENST00000341744	ensembl	human	known	74_37	frame_shift_ins	10.91	49	6	INS	1.000:0.979	G
SLC25A44	9673	genome.wustl.edu	37	1	156182947	156182948	+	IGR	INS	-	-	A	rs564773343		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156182947_156182948insA	ENST00000359511.4	+	0	3482				PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Ins_p.K48fs|PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Ins_p.K48fs|PMF1_ENST00000565805.1_Frame_Shift_Ins_p.K48fs|PMF1_ENST00000567140.1_Frame_Shift_Ins_p.K48fs|PMF1_ENST00000368277.3_Frame_Shift_Ins_p.K48fs|PMF1_ENST00000368279.3_Frame_Shift_Ins_p.K48fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Ins_p.K48fs|PMF1_ENST00000368273.4_Frame_Shift_Ins_p.K48fs	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CTTTTCTTCAGAAGCTGGTCGC	0.599																																																	0																																										SO:0001628	intergenic_variant	0			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816		1.37:g.156182949_156182949dupA			O75034	Frame_Shift_Ins	INS	pfam_Nnf1	p.L48fs	ENST00000359511.4	37	c.141_142	CCDS1133.1	1																																																																																			PMF1-BGLAP	-	NULL	ENSG00000260238		0.599	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMF1-BGLAP	HGNC	protein_coding	OTTHUMT00000040856.1		0.00	21	0	-	NM_014655		156182948	+1	tier1		no_errors	ENST00000368276	ensembl	human	known	74_37	frame_shift_ins	30.00	7	3	INS	1.000:1.000	A
PML	5371	genome.wustl.edu	37	15	74327656	74327656	+	Intron	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:74327656delC	ENST00000268058.3	+	7	1806				PML_ENST00000268059.6_Frame_Shift_Del_p.H618fs|PML_ENST00000395135.3_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000569477.1_Frame_Shift_Del_p.P633fs|PML_ENST00000564428.1_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000354026.6_Frame_Shift_Del_p.H570fs|PML_ENST00000359928.4_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCACATACCACCCCCCAGCTT	0.692			T	"""RARA, PAX5"""	"""APL, ALL"""																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													59.0	67.0	65.0					15																	74327656		2198	4297	6495	SO:0001627	intron_variant	0			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+785C>-	15.37:g.74327656delC			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Frame_Shift_Del	DEL	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.P620fs	ENST00000268058.3	37	c.1854	CCDS10255.1	15																																																																																			PML	-	NULL	ENSG00000140464		0.692	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3		0.00	155	0	C	NM_002675		74327656	+1	tier1		no_errors	ENST00000268059	ensembl	human	known	74_37	frame_shift_del	10.37	121	14	DEL	0.000	-
PNISR	25957	genome.wustl.edu	37	6	99848584	99848584	+	Frame_Shift_Del	DEL	T	T	-	rs201782750		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:99848584delT	ENST00000369239.5	-	12	2454	c.2250delA	c.(2248-2250)aaafs	p.K750fs	PNISR_ENST00000438806.1_Frame_Shift_Del_p.K750fs	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	750	Ser-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGCCTGAATGTTTTTTACTAT	0.383																																																	0													193.0	196.0	195.0					6																	99848584		2203	4300	6503	SO:0001589	frameshift_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.2250delA	6.37:g.99848584delT	ENSP00000358242:p.Lys750fs		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Frame_Shift_Del	DEL	NULL	p.K750fs	ENST00000369239.5	37	c.2250	CCDS5043.1	6																																																																																			PNISR	-	NULL	ENSG00000132424		0.383	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1		0.00	71	0	T	NM_032870		99848584	-1	tier1		no_errors	ENST00000369239	ensembl	human	known	74_37	frame_shift_del	19.61	41	10	DEL	1.000	-
PNLIPRP1	5407	genome.wustl.edu	37	10	118368594	118368594	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:118368594G>T	ENST00000528052.1	+	13	1441	c.1370G>T	c.(1369-1371)cGg>cTg	p.R457L	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R457L|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R457L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	457	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GACACAGTGCGGGAAGACACG	0.512																																																	0													119.0	110.0	113.0					10																	118368594		2203	4300	6503	SO:0001583	missense	0			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1370G>T	10.37:g.118368594G>T	ENSP00000433933:p.Arg457Leu		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase	p.R457L	ENST00000528052.1	37	c.1370	CCDS7595.1	10	.	.	.	.	.	.	.	.	.	.	-	11.41	1.629923	0.28978	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	T;T;T	0.64991	-0.13;-0.13;-0.13	5.13	0.362	0.16113	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.278041	0.35320	N	0.003300	T	0.62122	0.2402	M	0.83223	2.63	0.80722	D	1	P	0.37688	0.605	B	0.38954	0.286	T	0.62695	-0.6800	10	0.59425	D	0.04	-8.6081	9.1038	0.36685	0.4014:0.0:0.5986:0.0	.	457	P54315	LIPR1_HUMAN	L	457	ENSP00000351695:R457L;ENSP00000433933:R457L;ENSP00000434159:R457L	ENSP00000351695:R457L	R	+	2	0	PNLIPRP1	118358584	0.434000	0.25570	0.598000	0.28837	0.001000	0.01503	-0.059000	0.11731	0.146000	0.19002	-0.150000	0.13652	CGG	PNLIPRP1	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc	ENSG00000187021		0.512	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	-	0.00	37	0	G	NM_006229		118368594	+1	tier1	-	no_errors	ENST00000358834	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.980	T
PNMA2	10687	genome.wustl.edu	37	8	26365709	26365709	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:26365709G>A	ENST00000522362.2	-	3	1457	c.563C>T	c.(562-564)gCc>gTc	p.A188V	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	188					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tatctccgtggcctgttccaa	0.572																																																	0													72.0	73.0	73.0					8																	26365709		2203	4300	6503	SO:0001583	missense	0				CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.563C>T	8.37:g.26365709G>A	ENSP00000429344:p.Ala188Val		B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom	p.A188V	ENST00000522362.2	37	c.563	CCDS34868.1	8	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287742	0.23478	.	.	ENSG00000240694	ENST00000522362	T	0.11712	2.75	4.22	3.35	0.38373	.	.	.	.	.	T	0.05456	0.0144	N	0.11698	0.16	0.31621	N	0.650314	B	0.14012	0.009	B	0.10450	0.005	T	0.26815	-1.0092	9	0.11794	T	0.64	-24.4819	8.0437	0.30536	0.109:0.0:0.891:0.0	.	188	Q9UL42	PNMA2_HUMAN	V	188	ENSP00000429344:A188V	ENSP00000429344:A188V	A	-	2	0	PNMA2	26421626	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	2.296000	0.43584	1.376000	0.46267	0.655000	0.94253	GCC	PNMA2	-	NULL	ENSG00000240694		0.572	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA2	HGNC	protein_coding	OTTHUMT00000375709.2	-	0.00	34	0	G	NM_007257		26365709	-1	tier1	-	no_errors	ENST00000522362	ensembl	human	known	74_37	missense	20.75	42	11	SNP	1.000	A
PNMAL1	55228	genome.wustl.edu	37	19	46973894	46973894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:46973894delG	ENST00000313683.10	-	2	704	c.399delC	c.(397-399)cccfs	p.P133fs	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Frame_Shift_Del_p.P133fs	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	133										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gggacagggtggggtggttga	0.582																																																	0													44.0	49.0	47.0					19																	46973894		2203	4300	6503	SO:0001589	frameshift_variant	0			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.399delC	19.37:g.46973894delG	ENSP00000318131:p.Pro133fs		A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Frame_Shift_Del	DEL	NULL	p.T134fs	ENST00000313683.10	37	c.399	CCDS33059.1	19																																																																																			PNMAL1	-	NULL	ENSG00000182013		0.582	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNMAL1	HGNC	protein_coding	OTTHUMT00000403929.1		0.00	39	0	G	NM_018215		46973894	-1	tier1		no_errors	ENST00000313683	ensembl	human	known	74_37	frame_shift_del	18.60	35	8	DEL	0.000	-
PNPLA1	285848	genome.wustl.edu	37	6	36260882	36260882	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:36260882delC	ENST00000394571.2	+	3	483	c.483delC	c.(481-483)atcfs	p.I161fs	PNPLA1_ENST00000388715.3_Frame_Shift_Del_p.I66fs|PNPLA1_ENST00000312917.5_Frame_Shift_Del_p.I66fs	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	161	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GTGGCCTCATCCCCCCGACTT	0.652																																																	0													120.0	99.0	106.0					6																	36260882		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.483delC	6.37:g.36260882delC	ENSP00000378072:p.Ile161fs		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Frame_Shift_Del	DEL	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.P164fs	ENST00000394571.2	37	c.486	CCDS54997.1	6																																																																																			PNPLA1	-	superfamily_Acyl_Trfase/lysoPLipase	ENSG00000180316		0.652	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA1	HGNC	protein_coding			0.00	80	0	C	NM_173676		36260882	+1	tier1		no_errors	ENST00000457797	ensembl	human	known	74_37	frame_shift_del	9.86	64	7	DEL	0.985	-
POLA1	5422	genome.wustl.edu	37	X	24735597	24735597	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:24735597C>A	ENST00000379059.3	+	9	894	c.879C>A	c.(877-879)acC>acA	p.T293T	POLA1_ENST00000379068.3_Silent_p.T299T	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	293					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GGAAAGGGACCGTGTCCTACT	0.448																																																	0													96.0	95.0	95.0					X																	24735597		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.879C>A	X.37:g.24735597C>A			Q86UQ7	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.T299	ENST00000379059.3	37	c.897	CCDS14214.1	X																																																																																			POLA1	-	tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000101868		0.448	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	-	0.00	38	0	C	NM_016937		24735597	+1	tier1	-	no_errors	ENST00000379068	ensembl	human	known	74_37	silent	28.00	17	7	SNP	0.000	A
POLE	5426	genome.wustl.edu	37	12	133219301	133219301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:133219301delC	ENST00000320574.5	-	37	4786	c.4743delG	c.(4741-4743)gggfs	p.G1581fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.G1554fs|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1581					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGAGTGTGGGCCCCCGGCGCT	0.577								DNA polymerases (catalytic subunits)																																									0													50.0	56.0	54.0					12																	133219301		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4743delG	12.37:g.133219301delC	ENSP00000322570:p.Gly1581fs		Q13533|Q86VH9	Frame_Shift_Del	DEL	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.T1583fs	ENST00000320574.5	37	c.4743	CCDS9278.1	12																																																																																			POLE	-	pfam_DNA_pol_e_suA_C	ENSG00000177084		0.577	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2		0.00	26	0	C	NM_006231		133219301	-1	tier1		no_errors	ENST00000320574	ensembl	human	known	74_37	frame_shift_del	13.04	20	3	DEL	0.930	-
POLE	5426	genome.wustl.edu	37	12	133241907	133241907	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:133241907C>A	ENST00000320574.5	-	21	2492	c.2449G>T	c.(2449-2451)Ggc>Tgc	p.G817C	POLE_ENST00000535270.1_Missense_Mutation_p.G790C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	817					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATGACATAGCCATAGAAGGAG	0.602								DNA polymerases (catalytic subunits)																																									0													115.0	101.0	106.0					12																	133241907		2203	4300	6503	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2449G>T	12.37:g.133241907C>A	ENSP00000322570:p.Gly817Cys		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.G817C	ENST00000320574.5	37	c.2449	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653543	0.88056	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.65	5.65	0.86999	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	D	0.95332	0.8485	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96321	0.9236	10	0.87932	D	0	.	19.7754	0.96389	0.0:1.0:0.0:0.0	.	790;817	F5H1D6;Q07864	.;DPOE1_HUMAN	C	817;828;790;597;752	ENSP00000322570:G817C;ENSP00000406383:G828C;ENSP00000445753:G790C;ENSP00000442519:G597C	ENSP00000322570:G817C	G	-	1	0	POLE	131751980	1.000000	0.71417	0.990000	0.47175	0.803000	0.45373	7.770000	0.85390	2.679000	0.91253	0.567000	0.79289	GGC	POLE	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B	ENSG00000177084		0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0.00	44	0	C	NM_006231		133241907	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	A
POLG	5428	genome.wustl.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-	rs527965158|rs587781117|rs573261648|rs369920352	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)cagcaa>caa	p.52_53QQ>Q	POLG_ENST00000442287.2_In_Frame_Del_p.52_53QQ>Q|POLG_ENST00000525806.1_5'Flank|RP11-217B1.2_ENST00000562356.1_RNA|RP11-217B1.2_ENST00000569473.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	52	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.69								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												0																																										SO:0001651	inframe_deletion	0			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.156_158delGCA	15.37:g.89876837_89876839delTGC	ENSP00000268124:p.Gln55del		Q8NFM2|Q92515	In_Frame_Del	DEL	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.Q55in_frame_del	ENST00000268124.5	37	c.158_156	CCDS10350.1	15																																																																																			POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub	ENSG00000140521		0.690	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2		0.00	40	0	TGC	NM_002693		89876830	-1	tier1		no_errors	ENST00000268124	ensembl	human	known	74_37	in_frame_del	11.11	24	3	DEL	0.005:0.011:0.014	-
POLR2B	5431	genome.wustl.edu	37	4	57877007	57877007	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:57877007T>C	ENST00000381227.1	+	13	2055	c.1642T>C	c.(1642-1644)Tgg>Cgg	p.W548R	POLR2B_ENST00000441246.2_Missense_Mutation_p.W541R|POLR2B_ENST00000314595.5_Missense_Mutation_p.W548R|POLR2B_ENST00000431623.2_Missense_Mutation_p.W473R|POLR2B_ENST00000510355.1_3'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	548					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTAGAAGAATGGAGTATGGA	0.343																																																	0													78.0	84.0	82.0					4																	57877007		2201	4299	6500	SO:0001583	missense	0				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1642T>C	4.37:g.57877007T>C	ENSP00000370625:p.Trp548Arg		A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.W548R	ENST00000381227.1	37	c.1642	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609615	0.66558	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.80065	0.4555	L	0.50993	1.605	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.59948	0.866;0.866	T	0.76578	-0.2908	10	0.22706	T	0.39	.	16.0502	0.80755	0.0:0.0:0.0:1.0	.	473;548	C9J4M6;P30876	.;RPB2_HUMAN	R	548;473;541;548	ENSP00000370625:W548R;ENSP00000391096:W473R;ENSP00000391452:W541R;ENSP00000312735:W548R	ENSP00000312735:W548R	W	+	1	0	POLR2B	57571764	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.844000	0.86867	2.197000	0.70478	0.528000	0.53228	TGG	POLR2B	-	NULL	ENSG00000047315		0.343	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	-	0.00	37	0	T	NM_000938		57877007	+1	tier1	-	no_errors	ENST00000314595	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	C
POLR3A	11128	genome.wustl.edu	37	10	79761979	79761979	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:79761979T>C	ENST00000372371.3	-	17	2472	c.2335A>G	c.(2335-2337)Acc>Gcc	p.T779A		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	779					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAGCCATGGTGAGGGGGCTG	0.582																																																	0													76.0	61.0	66.0					10																	79761979		2203	4298	6501	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2335A>G	10.37:g.79761979T>C	ENSP00000361446:p.Thr779Ala		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.T779A	ENST00000372371.3	37	c.2335	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552441	0.65311	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.76839	-1.05	5.49	4.35	0.52113	RNA polymerase Rpb1, domain 4 (1);	0.389858	0.29980	N	0.010712	T	0.65428	0.2690	L	0.29908	0.895	0.35176	D	0.772026	B	0.24675	0.109	B	0.27170	0.077	T	0.67138	-0.5746	9	.	.	.	-20.6708	11.073	0.48014	0.0:0.0724:0.0:0.9276	.	779	O14802	RPC1_HUMAN	A	779	ENSP00000361446:T779A	.	T	-	1	0	POLR3A	79431985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.597000	0.61062	2.218000	0.71995	0.533000	0.62120	ACC	POLR3A	-	pfam_RNA_pol_Rpb1_4	ENSG00000148606		0.582	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0.00	23	0	T	NM_007055		79761979	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	C
POLR3A	11128	genome.wustl.edu	37	10	79782027	79782027	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:79782027C>T	ENST00000372371.3	-	6	898	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	254					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CACCAAAAGTCGTGTGAGAAT	0.418																																																	0													74.0	67.0	69.0					10																	79782027		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.761G>A	10.37:g.79782027C>T	ENSP00000361446:p.Arg254Gln		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.R254Q	ENST00000372371.3	37	c.761	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848796	0.71603	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.67865	-0.29	4.93	4.93	0.64822	RNA polymerase, N-terminal (1);RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.81341	2.54	0.80722	D	1	P	0.50369	0.934	B	0.39935	0.314	T	0.75725	-0.3217	9	.	.	.	-7.3741	18.1457	0.89653	0.0:1.0:0.0:0.0	.	254	O14802	RPC1_HUMAN	Q	254	ENSP00000361446:R254Q	.	R	-	2	0	POLR3A	79452033	1.000000	0.71417	0.970000	0.41538	0.780000	0.44128	7.479000	0.81095	2.290000	0.77057	0.555000	0.69702	CGA	POLR3A	-	pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	ENSG00000148606		0.418	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0.00	41	0	C	NM_007055		79782027	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	T
POLR3A	11128	genome.wustl.edu	37	10	79785947	79785947	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:79785947G>A	ENST00000372371.3	-	2	222	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	29					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTGCTGGCGCATCTCCTCA	0.463																																																	0													81.0	74.0	76.0					10																	79785947		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.85C>T	10.37:g.79785947G>A	ENSP00000361446:p.Arg29Cys		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.R29C	ENST00000372371.3	37	c.85	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077035	0.76415	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.26223	1.75	5.1	5.1	0.69264	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	T	0.50684	-0.8799	9	.	.	.	-19.5699	18.5131	0.90925	0.0:0.0:1.0:0.0	.	29	O14802	RPC1_HUMAN	C	29	ENSP00000361446:R29C	.	R	-	1	0	POLR3A	79455953	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	9.416000	0.97383	2.365000	0.80145	0.455000	0.32223	CGC	POLR3A	-	pfam_RNA_pol_Rpb1_1	ENSG00000148606		0.463	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0.00	60	0	G	NM_007055		79785947	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	A
POLR3D	661	genome.wustl.edu	37	8	22105405	22105405	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:22105405G>A	ENST00000397802.4	+	3	460	c.245G>A	c.(244-246)cGt>cAt	p.R82H	MIR320A_ENST00000385302.1_RNA|POLR3D_ENST00000306433.4_Missense_Mutation_p.R82H			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	82					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AAGGAGAAGCGTGAAAGGGAC	0.522																																																	0													123.0	116.0	119.0					8																	22105405		2203	4300	6503	SO:0001583	missense	0			M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.245G>A	8.37:g.22105405G>A	ENSP00000380904:p.Arg82His		Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	pfam_RPC4	p.R82H	ENST00000397802.4	37	c.245	CCDS34858.1	8	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946277	0.53079	.	.	ENSG00000168495	ENST00000306433;ENST00000519237;ENST00000397802	.	.	.	5.99	5.99	0.97316	.	0.209804	0.49305	D	0.000144	T	0.58821	0.2149	L	0.59436	1.845	0.53688	D	0.999971	B	0.11235	0.004	B	0.08055	0.003	T	0.54248	-0.8322	9	0.46703	T	0.11	-4.3896	13.2316	0.59947	0.0757:0.0:0.9243:0.0	.	82	P05423	RPC4_HUMAN	H	82	.	ENSP00000303088:R82H	R	+	2	0	POLR3D	22161350	1.000000	0.71417	0.996000	0.52242	0.822000	0.46500	2.304000	0.43655	2.840000	0.97914	0.655000	0.94253	CGT	POLR3D	-	NULL	ENSG00000168495		0.522	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3D	HGNC	protein_coding	OTTHUMT00000375434.2	-	0.00	41	0	G	NM_001722		22105405	+1	tier1	-	no_errors	ENST00000397802	ensembl	human	known	74_37	missense	14.58	41	7	SNP	0.998	A
POLRMT	5442	genome.wustl.edu	37	19	621241	621241	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:621241G>A	ENST00000588649.2	-	10	2541	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	819	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCGCCACGTCGCTGCCCA	0.697																																																	0													10.0	14.0	13.0					19																	621241		2167	4243	6410	SO:0001819	synonymous_variant	0				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2457C>T	19.37:g.621241G>A			O60370	Silent	SNP	pfam_DNA-dir_Rpol_phage-type	p.D819	ENST00000588649.2	37	c.2457	CCDS12036.1	19																																																																																			POLRMT	-	NULL	ENSG00000099821		0.697	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	-	0.00	68	0	G	NM_005035		621241	-1	tier1	-	no_errors	ENST00000588649	ensembl	human	known	74_37	silent	9.52	57	6	SNP	1.000	A
POM121	9883	genome.wustl.edu	37	7	72418968	72418968	+	IGR	SNP	C	C	T	rs143664457		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:72418968C>T	ENST00000434423.2	+	0	3750				POM121_ENST00000446813.1_Missense_Mutation_p.R987W|POM121_ENST00000395270.1_Missense_Mutation_p.R987W|NSUN5P2_ENST00000388955.4_RNA			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGGTCTTCCACGGAGAGGACA	0.577																																																	0								C		1,4395	2.1+/-5.4	0,1,2197	59.0	72.0	68.0			-2.8	0.0	7	dbSNP_134	68	1,8597	1.2+/-3.3	0,1,4298	no	near-gene-3				0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154			72418968	2,12992	2198	4299	6497	SO:0001628	intergenic_variant	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527		7.37:g.72418968C>T			A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.R987W	ENST00000434423.2	37	c.2959		7	.	.	.	.	.	.	.	.	.	.	C	5.517	0.280363	0.10458	2.27E-4	1.16E-4	ENSG00000196313	ENST00000446813;ENST00000395270	T;T	0.06933	3.24;3.24	1.76	-2.79	0.05841	.	.	.	.	.	T	0.05227	0.0139	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.39623	-0.9605	8	0.87932	D	0	.	2.1126	0.03706	0.2477:0.39:0.0:0.3622	.	987	A8MXF9	.	W	987	ENSP00000393020:R987W;ENSP00000378687:R987W	ENSP00000378687:R987W	R	+	1	2	POM121	72056904	0.001000	0.12720	0.000000	0.03702	0.121000	0.20230	0.701000	0.25616	-1.013000	0.03383	0.162000	0.16502	CGG	POM121	-	NULL	ENSG00000196313		0.577	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	-	0.00	124	0	C			72418968	+1	tier1	rs143664457	no_errors	ENST00000395270	ensembl	human	known	74_37	missense	18.09	77	17	SNP	0.000	T
POM121L9P	29774	genome.wustl.edu	37	22	24659492	24659492	+	RNA	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:24659492G>T	ENST00000414583.2	+	0	3017					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACACAGAGAAGGATGTGACAT	0.448																																																	0																																												0			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659492G>T				RNA	SNP	-	NULL	ENST00000414583.2	37	NULL		22																																																																																			POM121L9P	-	-	ENSG00000128262		0.448	POM121L9P-001	KNOWN	basic	processed_transcript	POM121L9P	HGNC	pseudogene	OTTHUMT00000319991.1	-	0.00	107	0	G	NM_014549		24659492	+1	tier1	-	no_errors	ENST00000414583	ensembl	human	known	74_37	rna	28.80	89	36	SNP	0.001	T
POSTN	10631	genome.wustl.edu	37	13	38154786	38154786	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:38154786T>C	ENST00000379747.4	-	11	1558	c.1441A>G	c.(1441-1443)Aga>Gga	p.R481G	POSTN_ENST00000379742.4_Missense_Mutation_p.R481G|POSTN_ENST00000541481.1_Missense_Mutation_p.R481G|POSTN_ENST00000379743.4_Missense_Mutation_p.R481G|POSTN_ENST00000379749.4_Missense_Mutation_p.R481G|POSTN_ENST00000541179.1_Missense_Mutation_p.R481G	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	481	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GCACCGTTTCTCCCTTGCTTA	0.423																																																	0													274.0	252.0	260.0					13																	38154786		2203	4300	6503	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1441A>G	13.37:g.38154786T>C	ENSP00000369071:p.Arg481Gly		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.R481G	ENST00000379747.4	37	c.1441	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659230	0.47467	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.03	2.35	0.29111	FAS1 domain (6);	0.178761	0.64402	D	0.000015	D	0.90916	0.7145	L	0.38838	1.175	0.37512	D	0.917198	D;D;P;D;D;P;P	0.71674	0.998;0.995;0.939;0.997;0.994;0.537;0.939	D;D;P;D;D;B;P	0.85130	0.997;0.995;0.758;0.995;0.983;0.237;0.758	D	0.88291	0.2943	10	0.20519	T	0.43	-25.3404	11.6471	0.51267	0.0:0.0:0.2813:0.7187	.	481;481;481;481;481;481;481	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	G	481	ENSP00000437959:R481G;ENSP00000369073:R481G;ENSP00000369071:R481G;ENSP00000369067:R481G;ENSP00000369066:R481G;ENSP00000437953:R481G	ENSP00000369066:R481G	R	-	1	2	POSTN	37052786	0.999000	0.42202	0.980000	0.43619	0.221000	0.24807	2.401000	0.44513	0.836000	0.34901	0.460000	0.39030	AGA	POSTN	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.423	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0.00	111	0	T	NM_006475		38154786	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	missense	28.07	82	32	SNP	1.000	C
POSTN	10631	genome.wustl.edu	37	13	38156600	38156600	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:38156600T>G	ENST00000379747.4	-	10	1412	c.1295A>C	c.(1294-1296)cAc>cCc	p.H432P	POSTN_ENST00000379742.4_Missense_Mutation_p.H432P|POSTN_ENST00000541481.1_Missense_Mutation_p.H432P|POSTN_ENST00000379743.4_Missense_Mutation_p.H432P|POSTN_ENST00000379749.4_Missense_Mutation_p.H432P|POSTN_ENST00000541179.1_Missense_Mutation_p.H432P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	432	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTCAATATGTGATTCTGCAG	0.353																																																	0													125.0	122.0	123.0					13																	38156600		2203	4300	6503	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1295A>C	13.37:g.38156600T>G	ENSP00000369071:p.His432Pro		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.H432P	ENST00000379747.4	37	c.1295	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604390	0.87157	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76;-4.76	6.07	6.07	0.98685	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.996;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.998;1.0;0.998;0.989;1.0;1.0	D	0.99719	1.1009	10	0.87932	D	0	-17.099	16.6407	0.85098	0.0:0.0:0.0:1.0	.	432;432;432;432;432;432;432	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	P	432	ENSP00000437959:H432P;ENSP00000369073:H432P;ENSP00000369071:H432P;ENSP00000369067:H432P;ENSP00000369066:H432P;ENSP00000437953:H432P	ENSP00000369066:H432P	H	-	2	0	POSTN	37054600	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.643000	0.83403	2.326000	0.78906	0.533000	0.62120	CAC	POSTN	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.353	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0.00	108	0	T	NM_006475		38156600	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	missense	38.57	43	27	SNP	1.000	G
POU3F3	5455	genome.wustl.edu	37	2	105472906	105472906	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:105472906A>G	ENST00000361360.2	+	1	938	c.938A>G	c.(937-939)gAc>gGc	p.D313G	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	313					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCGCACTCGGACGAGGACACG	0.736																																																	0													31.0	28.0	29.0					2																	105472906		2202	4299	6501	SO:0001583	missense	0				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.938A>G	2.37:g.105472906A>G	ENSP00000355001:p.Asp313Gly		P78379|Q4ZG25	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.D313G	ENST00000361360.2	37	c.938	CCDS33265.1	2	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713035	0.89112	.	.	ENSG00000198914	ENST00000361360	D	0.85171	-1.95	3.58	3.58	0.41010	.	0.000000	0.64402	U	0.000006	D	0.84288	0.5439	L	0.39898	1.24	0.58432	D	0.999991	D	0.55605	0.972	P	0.52793	0.709	D	0.85598	0.1250	10	0.87932	D	0	.	11.5602	0.50772	1.0:0.0:0.0:0.0	.	313	P20264	PO3F3_HUMAN	G	313	ENSP00000355001:D313G	ENSP00000355001:D313G	D	+	2	0	POU3F3	104839338	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.519000	0.90563	1.430000	0.47334	0.321000	0.21382	GAC	POU3F3	-	pirsf_Transcription_factor_POU	ENSG00000198914		0.736	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	POU3F3	HGNC	protein_coding	OTTHUMT00000329335.2	-	0.00	63	0	A			105472906	+1	tier1	-	no_errors	ENST00000361360	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	G
POU4F3	5459	genome.wustl.edu	37	5	145719506	145719506	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:145719506C>T	ENST00000230732.4	+	2	605	c.516C>T	c.(514-516)gcC>gcT	p.A172A	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	172					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATAGCGCCATGCCTGCAT	0.672																																																	0													45.0	46.0	45.0					5																	145719506		2203	4299	6502	SO:0001819	synonymous_variant	0			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.516C>T	5.37:g.145719506C>T			O60557|Q2M3F8	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A172	ENST00000230732.4	37	c.516	CCDS4281.1	5																																																																																			POU4F3	-	NULL	ENSG00000091010		0.672	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	-	0.00	44	0	C	NM_002700		145719506	+1	tier1	-	no_errors	ENST00000230732	ensembl	human	known	74_37	silent	14.71	29	5	SNP	1.000	T
POU5F1	5460	genome.wustl.edu	37	6	31132949	31132949	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31132949G>A	ENST00000259915.8	-	4	844	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	POU5F1_ENST00000471529.2_Nonsense_Mutation_p.Q62*|POU5F1_ENST00000512818.1_Nonsense_Mutation_p.Q62*|POU5F1_ENST00000606567.1_Nonsense_Mutation_p.Q88*|POU5F1_ENST00000441888.3_Nonsense_Mutation_p.Q62*|POU5F1_ENST00000513407.1_Nonsense_Mutation_p.Q62*	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	258					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	CTGATCTGCTGCAGTGTGGGT	0.572			T	EWSR1	sarcoma																																			Dom	yes		6	6p21.31	5460	"""POU domain, class 5, transcription factor 1"""		M	0													49.0	30.0	37.0					6																	31132949		1509	2704	4213	SO:0001587	stop_gained	0			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.772C>T	6.37:g.31132949G>A	ENSP00000259915:p.Gln258*		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Nonsense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.Q258*	ENST00000259915.8	37	c.772	CCDS34391.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.544163	0.98348	.	.	ENSG00000204531	ENST00000541552;ENST00000512818;ENST00000259915;ENST00000441888;ENST00000471529	.	.	.	6.05	6.05	0.98169	.	0.000000	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0982	0.89497	0.0:0.0:1.0:0.0	.	.	.	.	X	163;62;258;62;62	.	ENSP00000259915:Q258X	Q	-	1	0	POU5F1	31240928	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.500000	0.73687	2.876000	0.98609	0.637000	0.83480	CAG	POU5F1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000204531		0.572	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1	HGNC	protein_coding	OTTHUMT00000076413.4	-	0.00	60	0	G	NM_002701		31132949	-1	tier1	-	no_errors	ENST00000259915	ensembl	human	known	74_37	nonsense	21.15	41	11	SNP	1.000	A
PPAN	56342	genome.wustl.edu	37	19	10217080	10217080	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10217080T>A	ENST00000253107.7	+	1	116	c.10T>A	c.(10-12)Tca>Aca	p.S4T	PPAN_ENST00000393793.1_5'Flank|PPAN_ENST00000556468.1_Missense_Mutation_p.S4T|SNORD105_ENST00000386910.1_RNA|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.S4T|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.S4T	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	4					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CATGGGACAGTCAGGGAGGGT	0.721																																																	0													35.0	35.0	35.0					19																	10217080		1999	3934	5933	SO:0001583	missense	0			BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.10T>A	19.37:g.10217080T>A	ENSP00000253107:p.Ser4Thr		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM	p.S4T	ENST00000253107.7	37	c.10	CCDS12225.1	19	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383292	0.42207	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696	T;T;T;T	0.61742	1.49;0.08;1.54;0.08	4.94	2.75	0.32379	.	.	.	.	.	T	0.30572	0.0769	N	0.19112	0.55	0.09310	N	1	B;B;B	0.33694	0.118;0.421;0.118	B;B;B	0.24541	0.026;0.054;0.026	T	0.11867	-1.0570	9	0.13853	T	0.58	-4.8615	2.5006	0.04632	0.0:0.2957:0.2702:0.434	.	4;4;4	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	T	4	ENSP00000411918:S4T;ENSP00000377385:S4T;ENSP00000253107:S4T;ENSP00000450710:S4T	ENSP00000253107:S4T	S	+	1	0	PPAN;PPAN-P2RY11	10078080	0.901000	0.30685	0.102000	0.21198	0.088000	0.18126	0.930000	0.28858	0.329000	0.23460	0.459000	0.35465	TCA	PPAN-P2RY11	-	NULL	ENSG00000243207		0.721	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	HGNC	protein_coding	OTTHUMT00000316658.1	-	0.00	22	0	T	NM_020230		10217080	+1	tier1	-	no_errors	ENST00000393796	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.147	A
P2RY11	5032	genome.wustl.edu	37	19	10224313	10224313	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10224313C>T	ENST00000321826.4	+	2	208	c.24C>T	c.(22-24)gcC>gcT	p.A8A	PPAN_ENST00000556468.1_Silent_p.A428A|PPAN-P2RY11_ENST00000393796.4_Silent_p.A428A|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.P449L|P2RY11_ENST00000471843.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	8					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCACAGGTGCCAAGTCCTGCC	0.617											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53.0	53.0	53.0					19																	10224313		2203	4300	6503	SO:0001819	synonymous_variant	0			AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.24C>T	19.37:g.10224313C>T		663	B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.P449L	ENST00000321826.4	37	c.1346	CCDS12226.1	19	.	.	.	.	.	.	.	.	.	.	C	13.04	2.116918	0.37339	.	.	ENSG00000243207	ENST00000428358	T	0.30981	1.51	3.97	2.93	0.34026	.	.	.	.	.	T	0.21881	0.0527	.	.	.	0.58432	D	0.999997	B	0.09022	0.002	B	0.04013	0.001	T	0.04752	-1.0929	8	0.39692	T	0.17	.	7.5058	0.27545	0.0:0.8798:0.0:0.1202	.	449	C9J3F9	.	L	449	ENSP00000411918:P449L	ENSP00000411918:P449L	P	+	2	0	PPAN-P2RY11	10085313	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.135000	0.15952	0.892000	0.36259	0.555000	0.69702	CCA	PPAN-P2RY11	-	NULL	ENSG00000243207		0.617	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	HGNC	protein_coding	OTTHUMT00000316664.2	-	0.00	76	0	C	NM_002566		10224313	+1	tier1	-	no_errors	ENST00000428358	ensembl	human	novel	74_37	missense	6.45	57	4	SNP	0.016	T
PPAPDC3	84814	genome.wustl.edu	37	9	134183419	134183419	+	Silent	SNP	C	C	T	rs139765954		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:134183419C>T	ENST00000372264.3	+	2	865	c.561C>T	c.(559-561)taC>taT	p.Y187Y		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	187					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TGGACATCTACGCCTTCCCGG	0.672																																																	0								C		3,4403	6.2+/-15.9	0,3,2200	59.0	51.0	54.0		561	1.7	1.0	9	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous	PPAPDC3	NM_032728.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		187/272	134183419	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.561C>T	9.37:g.134183419C>T			Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.Y187	ENST00000372264.3	37	c.561	CCDS6942.1	9																																																																																			PPAPDC3	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000160539		0.672	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC3	HGNC	protein_coding	OTTHUMT00000054724.1	-	0.00	56	0	C	NM_032728		134183419	+1	tier1	rs139765954	no_errors	ENST00000372264	ensembl	human	known	74_37	silent	13.33	52	8	SNP	1.000	T
PPARGC1A	10891	genome.wustl.edu	37	4	23797449	23797449	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:23797449C>T	ENST00000264867.2	-	13	2512	c.2393G>A	c.(2392-2394)aGg>aAg	p.R798K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	798	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AACATGTTACCTGCGCAAGCT	0.453																																					Esophageal Squamous(29;694 744 13796 34866 44181)												0													110.0	98.0	102.0					4																	23797449		2203	4300	6503	SO:0001583	missense	0			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2393G>A	4.37:g.23797449C>T	ENSP00000264867:p.Arg798Lys		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R798K	ENST00000264867.2	37	c.2393	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727315	0.89390	.	.	ENSG00000109819	ENST00000264867	T	0.34072	1.38	5.42	5.42	0.78866	.	0.043766	0.85682	D	0.000000	T	0.55146	0.1902	L	0.54323	1.7	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.49312	-0.8953	10	0.44086	T	0.13	-8.4089	19.5823	0.95473	0.0:1.0:0.0:0.0	.	798	Q9UBK2	PRGC1_HUMAN	K	798	ENSP00000264867:R798K	ENSP00000264867:R798K	R	-	2	0	PPARGC1A	23406547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.695000	0.91970	0.655000	0.94253	AGG	PPARGC1A	-	NULL	ENSG00000109819		0.453	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1	-	0.00	36	0	C	NM_013261		23797449	-1	tier1	-	no_errors	ENST00000264867	ensembl	human	known	74_37	missense	25.00	30	10	SNP	1.000	T
PPIG	9360	genome.wustl.edu	37	2	170465183	170465183	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:170465183G>A	ENST00000260970.3	+	7	512	c.292G>A	c.(292-294)Gag>Aag	p.E98K	PPIG_ENST00000462903.1_Missense_Mutation_p.E98K|PPIG_ENST00000409714.3_Missense_Mutation_p.E83K|PPIG_ENST00000448752.2_Missense_Mutation_p.E98K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	98	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CTCTATAGACGAGAGTTTCGC	0.318																																																	0													72.0	69.0	70.0					2																	170465183		2203	4300	6503	SO:0001583	missense	0			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.292G>A	2.37:g.170465183G>A	ENSP00000260970:p.Glu98Lys		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E98K	ENST00000260970.3	37	c.292	CCDS2235.1	2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470099	0.84533	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.06	5.06	0.68205	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	H	0.98388	4.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.997;0.999;0.998	D	0.89420	0.3709	10	0.87932	D	0	-15.6121	18.7797	0.91926	0.0:0.0:1.0:0.0	.	94;83;83;98;98	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	K	98;98;94;83;98;98;98	ENSP00000260970:E98K;ENSP00000408683:E94K;ENSP00000386245:E83K;ENSP00000435987:E98K;ENSP00000407083:E98K;ENSP00000402222:E98K	ENSP00000260970:E98K	E	+	1	0	PPIG	170173429	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.779000	0.99018	2.495000	0.84180	0.585000	0.79938	GAG	PPIG	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000138398		0.318	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIG	HGNC	protein_coding	OTTHUMT00000255264.2	-	0.00	52	0	G			170465183	+1	tier1	-	no_errors	ENST00000260970	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A
PPM1D	8493	genome.wustl.edu	37	17	58740624	58740624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:58740624delA	ENST00000305921.3	+	6	1761	c.1529delA	c.(1528-1530)caafs	p.Q510fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	510					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.N512fs*2(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTCATGGACCAAAAAAATTTG	0.378											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					1	Deletion - Frameshift(1)	large_intestine(1)											71.0	73.0	72.0					17																	58740624		2203	4300	6503	SO:0001589	frameshift_variant	0			U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1529delA	17.37:g.58740624delA	ENSP00000306682:p.Gln510fs	1033	Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.N512fs	ENST00000305921.3	37	c.1529	CCDS11625.1	17																																																																																			PPM1D	-	NULL	ENSG00000170836		0.378	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1D	HGNC	protein_coding	OTTHUMT00000449474.1		0.00	37	0	A	NM_003620		58740624	+1	tier1		no_errors	ENST00000305921	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.997	-
PPM1H	57460	genome.wustl.edu	37	12	63195670	63195670	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:63195670G>A	ENST00000228705.6	-	3	982	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	228	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GTAAAGAAGCGTGTGGGGGGC	0.642																																																	0													28.0	32.0	31.0					12																	63195670		1896	4091	5987	SO:0001583	missense	0			AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.682C>T	12.37:g.63195670G>A	ENSP00000228705:p.Arg228Cys		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R228C	ENST00000228705.6	37	c.682	CCDS44934.1	12	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084870	0.55861	.	.	ENSG00000111110	ENST00000228705	T	0.25912	1.77	4.36	4.36	0.52297	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	L	0.46157	1.445	0.80722	D	1	B	0.25312	0.123	B	0.26969	0.075	T	0.05162	-1.0902	9	.	.	.	4.0024	17.2574	0.87061	0.0:0.0:1.0:0.0	.	228	Q9ULR3	PPM1H_HUMAN	C	228	ENSP00000228705:R228C	.	R	-	1	0	PPM1H	61481937	1.000000	0.71417	0.997000	0.53966	0.726000	0.41606	8.909000	0.92647	2.124000	0.65301	0.462000	0.41574	CGC	PPM1H	-	superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000111110		0.642	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1H	HGNC	protein_coding	OTTHUMT00000406760.2	-	0.00	41	0	G	NM_020700		63195670	-1	tier1	-	no_errors	ENST00000228705	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	A
PPOX	5498	genome.wustl.edu	37	1	161137885	161137886	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:161137885_161137886delCA	ENST00000367999.4	+	5	705_706	c.439_440delCA	c.(439-441)cacfs	p.H147fs	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Frame_Shift_Del_p.H147fs|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	147					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGAGACTGTGCACAGTTTTGCC	0.604																																																	0																																										SO:0001589	frameshift_variant	0			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.439_440delCA	1.37:g.161137887_161137888delCA	ENSP00000356978:p.His147fs		D3DVG0|Q5VTW8	Frame_Shift_Del	DEL	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.H147fs	ENST00000367999.4	37	c.439_440	CCDS1221.1	1																																																																																			PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	ENSG00000143224		0.604	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1		0.00	52	0	CA	NM_000309		161137886	+1	tier1		no_errors	ENST00000352210	ensembl	human	known	74_37	frame_shift_del	15.00	34	6	DEL	1.000:1.000	-
PPP1CC	5501	genome.wustl.edu	37	12	111180637	111180637	+	5'UTR	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:111180637delC	ENST00000335007.5	-	0	66				PPP1CC_ENST00000340766.5_5'UTR|PPP1CC_ENST00000551676.1_5'UTR|PPP1CC_ENST00000550991.1_5'UTR|PPP1CC_ENST00000551690.1_5'UTR	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme						cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						cgcggcggGTCCCCCCCCTGC	0.721																																																	0										44,2408		3,38,1185	9.0	13.0	12.0			-0.6	0.7	12		12	80,4852		4,72,2390	no	utr-5	PPP1CC	NM_002710.3		7,110,3575	A1A1,A1R,RR		1.6221,1.7945,1.6793			111180637	124,7260	688	1587	2275	SO:0001623	5_prime_UTR_variant	0				CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9283	protein-coding gene	gene with protein product		176914	"""protein phosphatase 1, catalytic subunit, gamma isoform"""				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.-125G>-	12.37:g.111180637delC				RNA	DEL	-	NULL	ENST00000335007.5	37	NULL	CCDS9150.1	12																																																																																			PPP1CC	-	-	ENSG00000186298		0.721	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CC	HGNC	protein_coding	OTTHUMT00000404659.1		0.00	22	0	C			111180637	-1	tier1		no_errors	ENST00000551690	ensembl	human	known	74_37	rna	18.75	13	3	DEL	0.993	-
PPP1R12B	4660	genome.wustl.edu	37	1	202549938	202549938	+	3'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:202549938C>T	ENST00000608999.1	+	0	3352				PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_3'UTR|PPP1R12B_ENST00000367270.4_3'UTR|PPP1R12B_ENST00000336894.4_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCGAGCCATCTGGAGAATGC	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.*250C>T	1.37:g.202549938C>T			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	RNA	SNP	-	NULL	ENST00000608999.1	37	NULL	CCDS1426.1	1																																																																																			PPP1R12B	-	-	ENSG00000077157		0.453	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	-	0.00	50	0	C	NM_032105		202549938	+1	tier1	-	no_errors	ENST00000290419	ensembl	human	known	74_37	rna	7.55	49	4	SNP	0.015	T
PPP1R13L	10848	genome.wustl.edu	37	19	45899677	45899677	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:45899677G>T	ENST00000418234.2	-	5	808	c.730C>A	c.(730-732)Cgg>Agg	p.R244R	PPP1R13L_ENST00000360957.5_Silent_p.R244R	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	244	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGAGGCCGCCGGCGCAGCGTC	0.652																																					Pancreas(61;1447 1663 31419 50578)												0													48.0	53.0	51.0					19																	45899677		2203	4300	6503	SO:0001819	synonymous_variant	0			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.730C>A	19.37:g.45899677G>T			Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.R244	ENST00000418234.2	37	c.730	CCDS33050.1	19																																																																																			PPP1R13L	-	NULL	ENSG00000104881		0.652	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	-	0.00	82	0	G	NM_006663		45899677	-1	tier1	-	no_errors	ENST00000360957	ensembl	human	known	74_37	silent	16.67	59	12	SNP	1.000	T
PPP1R14B	26472	genome.wustl.edu	37	11	64014017	64014017	+	Silent	SNP	C	C	G	rs1063811	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64014017C>G	ENST00000309318.3	-	1	396	c.129G>C	c.(127-129)ggG>ggC	p.G43G	RP11-783K16.5_ENST00000544553.1_RNA|RP11-783K16.5_ENST00000538355.1_RNA|PPP1R14B_ENST00000542235.1_5'Flank|PPP1R14B_ENST00000392210.2_5'Flank|RP11-783K16.13_ENST00000545800.1_lincRNA	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	43					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						CATCGTCCGCCCCGCCCGGGC	0.721																																																	0																																										SO:0001819	synonymous_variant	0			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.129G>C	11.37:g.64014017C>G			Q504S7|Q7KZD7	Silent	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.G43	ENST00000309318.3	37	c.129	CCDS31596.1	11																																																																																			PPP1R14B	-	superfamily_PP1_inhibitor	ENSG00000173457		0.721	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14B	HGNC	protein_coding	OTTHUMT00000396586.2		0.00	49	0	C	NM_138689		64014017	-1			no_errors	ENST00000309318	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.000	G
PPP1R26	9858	genome.wustl.edu	37	9	138379043	138379043	+	Frame_Shift_Del	DEL	G	G	-	rs577235079		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:138379043delG	ENST00000356818.2	+	4	3236	c.2687delG	c.(2686-2688)aggfs	p.R896fs	PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.R896fs	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	896					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGAGGGCCAGGGGGGTCCCA	0.701																																																	0													28.0	36.0	33.0					9																	138379043		2103	4123	6226	SO:0001589	frameshift_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2687delG	9.37:g.138379043delG	ENSP00000349274:p.Arg896fs		Q86WU0|Q8WVV0|Q9Y4D3	Frame_Shift_Del	DEL	NULL	p.V898fs	ENST00000356818.2	37	c.2687	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.701	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1		0.00	67	0	G	NM_014811		138379043	+1	tier1		no_errors	ENST00000356818	ensembl	human	known	74_37	frame_shift_del	33.33	34	17	DEL	0.002	-
PPP1R37	284352	genome.wustl.edu	37	19	45648386	45648386	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:45648386C>T	ENST00000221462.4	+	10	1528	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	PPP1R37_ENST00000421905.1_Silent_p.S384S	NM_019121.1	NP_061994.1	O75864	PPR37_HUMAN	protein phosphatase 1, regulatory subunit 37	388					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TCGCTGAGAGCCCCCGCCTCC	0.711																																																	0																																										SO:0001819	synonymous_variant	0			BC035704	CCDS56096.1	19q13.32	2012-04-17	2011-10-11	2011-10-11	ENSG00000104866	ENSG00000104866		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	27607	protein-coding gene	gene with protein product			"""leucine rich repeat containing 68"""	LRRC68		12477932	Standard	NM_019121		Approved		uc021uvs.1	O75864	OTTHUMG00000168143	ENST00000221462.4:c.1164C>T	19.37:g.45648386C>T			B5MDA4|Q8IWK3|Q8TF16	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S388	ENST00000221462.4	37	c.1164	CCDS56096.1	19																																																																																			PPP1R37	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000104866		0.711	PPP1R37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R37	HGNC	protein_coding	OTTHUMT00000398356.2	-	0.00	37	0	C	NM_173634		45648386	+1	tier1	-	no_errors	ENST00000221462	ensembl	human	known	74_37	silent	17.78	37	8	SNP	1.000	T
PPP1R9A	55607	genome.wustl.edu	37	7	94791228	94791228	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:94791228G>A	ENST00000433881.1	+	5	2231	c.1699G>A	c.(1699-1701)Ggt>Agt	p.G567S	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.G567S|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G567S|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G567S|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G567S|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G567S			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	567	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.G567R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGCTTGGTGGGTGTGACACA	0.363										HNSCC(28;0.073)																																							2	Substitution - Missense(2)	lung(2)											108.0	94.0	99.0					7																	94791228		2203	4300	6503	SO:0001583	missense	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1699G>A	7.37:g.94791228G>A	ENSP00000398870:p.Gly567Ser		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.G567S	ENST00000433881.1	37	c.1699	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.488132	0.96323	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	4.85	4.85	0.62838	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.986	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.981	T	0.72330	-0.4326	10	0.87932	D	0	.	17.6008	0.88024	0.0:0.0:1.0:0.0	.	567;567;567;567;567	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	S	567	ENSP00000405514:G567S;ENSP00000344524:G567S;ENSP00000411342:G567S;ENSP00000398870:G567S;ENSP00000289495:G567S;ENSP00000402893:G567S	ENSP00000289495:G567S	G	+	1	0	PPP1R9A	94629164	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.335000	0.96500	2.634000	0.89283	0.591000	0.81541	GGT	PPP1R9A	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000158528		0.363	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	-	0.00	55	0	G	NM_001166160		94791228	+1	tier1	-	no_errors	ENST00000289495	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	A
PPP2R5B	5526	genome.wustl.edu	37	11	64697795	64697795	+	Splice_Site	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64697795T>C	ENST00000164133.2	+	7	1346	c.724T>C	c.(724-726)Ttc>Ctc	p.F242L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	242					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CTCTTGCAGGTTCATCTATGA	0.577																																																	0													117.0	104.0	109.0					11																	64697795		2201	4297	6498	SO:0001630	splice_region_variant	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.723-1T>C	11.37:g.64697795T>C			Q13853	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.F242L	ENST00000164133.2	37	c.724	CCDS8085.1	11	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140259	0.77775	.	.	ENSG00000068971	ENST00000164133;ENST00000359279;ENST00000527441	.	.	.	3.81	3.81	0.43845	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	M	0.91354	3.2	0.80722	D	1	P	0.35844	0.524	B	0.40677	0.337	T	0.77905	-0.2413	9	0.72032	D	0.01	-24.2663	11.1935	0.48698	0.0:0.0:0.0:1.0	.	242	Q15173	2A5B_HUMAN	L	242;269;242	.	ENSP00000164133:F242L	F	+	1	0	PPP2R5B	64454371	1.000000	0.71417	0.999000	0.59377	0.422000	0.31414	7.342000	0.79310	1.962000	0.57031	0.533000	0.62120	TTC	PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.577	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	-	0.00	44	0	T	NM_006244	Missense_Mutation	64697795	+1	tier1	-	no_errors	ENST00000164133	ensembl	human	known	74_37	missense	18.60	35	8	SNP	1.000	C
PPP2R1B	5519	genome.wustl.edu	37	11	111626165	111626165	+	Missense_Mutation	SNP	G	G	A	rs376765814	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:111626165G>A	ENST00000527614.1	-	6	762	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R233C|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R106C|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R169C|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R233C|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R72C	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	233					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GCAAGGAGGCGCACTGAATCC	0.448													G|||	2	0.000399361	0.0	0.0	5008	,	,		16535	0.002		0.0	False		,,,				2504	0.0																0								G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	87.0	68.0	74.0		697,316,697,697,505	5.5	1.0	11		74	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense,missense	PPP2R1B	NM_001177562.1,NM_001177563.1,NM_002716.4,NM_181699.2,NM_181700.1	180,180,180,180,180	0,3,6495	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	233/557,106/475,233/602,233/668,169/604	111626165	3,12993	2201	4297	6498	SO:0001583	missense	0			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.697C>T	11.37:g.111626165G>A	ENSP00000437193:p.Arg233Cys		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R233C	ENST00000527614.1	37	c.697	CCDS8349.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665575	0.88251	4.54E-4	1.16E-4	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	H	0.97077	3.935	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.994;1.0;1.0;0.998;1.0	D	0.88083	0.2808	10	0.87932	D	0	-6.6676	16.8722	0.86043	0.0:0.0:1.0:0.0	.	106;233;72;169;233;233	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	C	233;106;169;233;72;233;106	ENSP00000311344:R233C;ENSP00000410671:R169C;ENSP00000437193:R233C;ENSP00000415759:R72C;ENSP00000343317:R233C;ENSP00000376775:R106C	ENSP00000311344:R233C	R	-	1	0	PPP2R1B	111131375	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.360000	0.79487	2.585000	0.87301	0.655000	0.94253	CGC	PPP2R1B	-	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000137713		0.448	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPP2R1B	HGNC	protein_coding	OTTHUMT00000391298.1		0.00	31	0	G	NM_002716		111626165	-1			no_errors	ENST00000311129	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A
PPP4C	5531	genome.wustl.edu	37	16	30087711	30087711	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:30087711A>G	ENST00000279387.7	+	2	181	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	PPP4C_ENST00000561610.1_Missense_Mutation_p.S5G	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	5					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGCGGAGATCAGCGACCTGGA	0.701																																																	0													23.0	23.0	23.0					16																	30087711		2195	4295	6490	SO:0001583	missense	0				CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.13A>G	16.37:g.30087711A>G	ENSP00000279387:p.Ser5Gly		P33172	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.S5G	ENST00000279387.7	37	c.13	CCDS10669.1	16	.	.	.	.	.	.	.	.	.	.	A	31	5.101820	0.94245	.	.	ENSG00000149923	ENST00000279387	T	0.05996	3.36	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.09512	0.0234	L	0.58925	1.835	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.15093	-1.0449	10	0.22706	T	0.39	-5.6435	15.7887	0.78332	1.0:0.0:0.0:0.0	.	5	P60510	PP4C_HUMAN	G	5	ENSP00000279387:S5G	ENSP00000279387:S5G	S	+	1	0	PPP4C	29995212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.063000	0.71162	2.367000	0.80283	0.528000	0.53228	AGC	PPP4C	-	NULL	ENSG00000149923		0.701	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4C	HGNC	protein_coding	OTTHUMT00000255155.2		0.00	44	0	A	NM_002720		30087711	+1			no_errors	ENST00000279387	ensembl	human	known	74_37	missense	5.41	69	4	SNP	1.000	G
PPP4R1	9989	genome.wustl.edu	37	18	9547802	9547802	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:9547802C>T	ENST00000400556.3	-	20	2911	c.2838G>A	c.(2836-2838)gcG>gcA	p.A946A	PPP4R1_ENST00000400555.3_Silent_p.A929A	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	946					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						AGGTTGAGGACGCTGTGCTCA	0.522																																					Melanoma(188;1232 2082 5061 11948 35994)												0													152.0	158.0	156.0					18																	9547802		2075	4205	6280	SO:0001819	synonymous_variant	0			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2838G>A	18.37:g.9547802C>T			Q99774|Q9UNQ7	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A946	ENST00000400556.3	37	c.2838	CCDS42412.1	18																																																																																			PPP4R1	-	NULL	ENSG00000154845		0.522	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	-	0.00	18	0	C	NM_005134		9547802	-1	tier1	-	no_errors	ENST00000400556	ensembl	human	known	74_37	silent	26.09	17	6	SNP	0.272	T
PPP4R1	9989	genome.wustl.edu	37	18	9549281	9549281	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:9549281G>A	ENST00000400556.3	-	19	2676	c.2603C>T	c.(2602-2604)cCg>cTg	p.P868L	PPP4R1_ENST00000400555.3_Missense_Mutation_p.P851L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	868					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TAGCAGATGCGGCATGAGATG	0.478																																					Melanoma(188;1232 2082 5061 11948 35994)												0													153.0	148.0	150.0					18																	9549281		2004	4182	6186	SO:0001583	missense	0			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2603C>T	18.37:g.9549281G>A	ENSP00000383402:p.Pro868Leu		Q99774|Q9UNQ7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P868L	ENST00000400556.3	37	c.2603	CCDS42412.1	18	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024830	0.93518	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.38077	1.16;1.16	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.123332	0.56097	D	0.000027	T	0.67239	0.2872	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.75484	0.911;0.986;0.966	T	0.70321	-0.4904	9	.	.	.	-20.0134	19.7759	0.96393	0.0:0.0:1.0:0.0	.	851;868;851	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	L	868;851	ENSP00000383402:P868L;ENSP00000383401:P851L	.	P	-	2	0	PPP4R1	9539281	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	9.386000	0.97228	2.738000	0.93877	0.655000	0.94253	CCG	PPP4R1	-	superfamily_ARM-type_fold	ENSG00000154845		0.478	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	-	0.00	55	0	G	NM_005134		9549281	-1	tier1	-	no_errors	ENST00000400556	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A
PRB1	5542	genome.wustl.edu	37	12	11506732	11506732	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:11506732G>T	ENST00000500254.2	-	3	342	c.305C>A	c.(304-306)cCa>cAa	p.P102Q	PRB1_ENST00000546254.1_Missense_Mutation_p.P102Q|PRB1_ENST00000545626.1_Missense_Mutation_p.P102Q	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	41	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTCCTTGTGGGGGTGGTCC	0.622																																																	0													173.0	215.0	201.0					12																	11506732		2160	4269	6429	SO:0001583	missense	0				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.305C>A	12.37:g.11506732G>T	ENSP00000420826:p.Pro102Gln		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	NULL	p.P102Q	ENST00000500254.2	37	c.305	CCDS8642.1	12	.	.	.	.	.	.	.	.	.	.	.	3.655	-0.070629	0.07228	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.06218	3.33;3.5;3.5	1.56	-2.16	0.07080	.	.	.	.	.	T	0.04679	0.0127	L	0.37507	1.11	0.09310	N	1	B;B;B	0.27166	0.17;0.17;0.17	B;B;B	0.19391	0.025;0.025;0.025	T	0.36866	-0.9730	9	0.87932	D	0	.	3.9531	0.09377	0.1456:0.0:0.4426:0.4118	.	109;102;102	Q86YA1;G3V1R1;G3V1M9	.;.;.	Q	102	ENSP00000444249:P102Q;ENSP00000420826:P102Q;ENSP00000442127:P102Q	ENSP00000420826:P102Q	P	-	2	0	PRB1	11397999	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-0.581000	0.05820	-0.693000	0.05121	-0.800000	0.03216	CCA	PRB1	-	NULL	ENSG00000251655		0.622	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB1	HGNC	protein_coding	OTTHUMT00000402312.1	-	0.00	173	0	G	NM_005039		11506732	-1	tier1	-	no_errors	ENST00000500254	ensembl	human	known	74_37	missense	11.51	123	16	SNP	0.003	T
PRB2	653247	genome.wustl.edu	37	12	11546379	11546379	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:11546379T>C	ENST00000389362.4	-	3	668	c.633A>G	c.(631-633)aaA>aaG	p.K211K	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	211	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACCTTGAGGTTTGTTGCCTC	0.602																																																	0													68.0	88.0	81.0					12																	11546379		2050	4136	6186	SO:0001819	synonymous_variant	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.633A>G	12.37:g.11546379T>C			O00599|P02811|P04281	Silent	SNP	NULL	p.K211	ENST00000389362.4	37	c.633	CCDS41757.2	12																																																																																			PRB2	-	NULL	ENSG00000121335		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	-	0.00	86	0	T	NM_006248		11546379	-1	tier1	-	no_errors	ENST00000389362	ensembl	human	known	74_37	silent	6.86	92	7	SNP	0.102	C
PRB2	653247	genome.wustl.edu	37	12	11546381	11546381	+	Missense_Mutation	SNP	T	T	G	rs201455726		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:11546381T>G	ENST00000389362.4	-	3	666	c.631A>C	c.(631-633)Aaa>Caa	p.K211Q	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	211	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTTGAGGTTTGTTGCCTCCT	0.602																																																	0								G	GLN/LYS	3,4103		0,3,2050	67.0	86.0	80.0		631		0.0	12		80	23,8247		0,23,4112	no	missense	PRB2	NM_006248.3	53	0,26,6162	GG,GT,TT		0.2781,0.0731,0.2101	possibly-damaging	211/417	11546381	26,12350	2053	4135	6188	SO:0001583	missense	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.631A>C	12.37:g.11546381T>G	ENSP00000374013:p.Lys211Gln		O00599|P02811|P04281	Missense_Mutation	SNP	NULL	p.K211Q	ENST00000389362.4	37	c.631	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	2.662	-0.279436	0.05642	7.31E-4	0.002781	ENSG00000121335	ENST00000389362	T	0.04406	3.63	.	.	.	.	3.389640	0.02448	N	0.085243	T	0.01940	0.0061	N	0.02315	-0.6	0.09310	N	1	P	0.50710	0.938	B	0.37943	0.261	T	0.33929	-0.9849	8	0.19147	T	0.46	.	.	.	.	.	211	P02812	PRB2_HUMAN	Q	211	ENSP00000374013:K211Q	ENSP00000374013:K211Q	K	-	1	0	PRB2	11437648	0.001000	0.12720	0.027000	0.17364	0.662000	0.39071	-2.591000	0.00899	0.149000	0.19098	0.147000	0.16070	AAA	PRB2	-	NULL	ENSG00000121335		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	-	0.00	85	0	T	NM_006248		11546381	-1	tier1	rs201455726	no_errors	ENST00000389362	ensembl	human	known	74_37	missense	7.77	95	8	SNP	0.033	G
PRCD	768206	genome.wustl.edu	37	17	74540516	74540517	+	IGR	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:74540516_74540517insC	ENST00000586148.1	+	0	630				RP11-666A8.8_ENST00000589963.1_RNA|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589145.1_Intron			Q00LT1	PRCD_HUMAN	progressive rod-cone degeneration						response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GAGGAGGTGCACCCCGCTGGGG	0.678																																																	0																																										SO:0001628	intergenic_variant	0			DQ390338	CCDS42382.1	17q25.1	2008-10-24			ENSG00000214140	ENSG00000214140			32528	protein-coding gene	gene with protein product		610598				16938425	Standard	NM_001077620		Approved	RP36	uc002jrw.1	Q00LT1	OTTHUMG00000132200		17.37:g.74540520_74540520dupC			B9EJD4	RNA	INS	-	NULL	ENST00000586148.1	37	NULL	CCDS42382.1	17																																																																																			PRCD	-	-	ENSG00000214140		0.678	PRCD-008	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PRCD	HGNC	protein_coding	OTTHUMT00000450598.1		0.00	33	0	-			74540517	+1	tier1		no_errors	ENST00000397633	ensembl	human	known	74_37	rna	20.69	23	6	INS	0.000:0.000	C
PRDM10	56980	genome.wustl.edu	37	11	129827675	129827675	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:129827675G>A	ENST00000360871.3	-	3	431	c.200C>T	c.(199-201)aCg>aTg	p.T67M	PRDM10_ENST00000358825.5_Missense_Mutation_p.T67M|PRDM10_ENST00000528746.1_Missense_Mutation_p.T67M	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTACACCAGCGTGTGCTCTGG	0.488																																																	0													171.0	150.0	157.0					11																	129827675		2201	4297	6498	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.200C>T	11.37:g.129827675G>A	ENSP00000354118:p.Thr67Met		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T67M	ENST00000360871.3	37	c.200	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528170	0.85706	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.58060	0.88;0.88;2.3;0.47;0.36	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	L	0.32530	0.975	0.80722	D	1	D;P;D	0.89917	0.975;0.77;1.0	B;B;D	0.83275	0.356;0.124;0.996	T	0.66913	-0.5803	10	0.87932	D	0	-17.3711	14.7624	0.69614	0.0693:0.0:0.9307:0.0	.	67;67;67	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	M	67	ENSP00000351686:T67M;ENSP00000354118:T67M;ENSP00000431262:T67M;ENSP00000432093:T67M;ENSP00000436681:T67M	ENSP00000351686:T67M	T	-	2	0	PRDM10	129332885	1.000000	0.71417	0.870000	0.34147	0.966000	0.64601	9.476000	0.97823	1.447000	0.47661	0.650000	0.86243	ACG	PRDM10	-	NULL	ENSG00000170325		0.488	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	-	0.00	38	0	G	NM_199437		129827675	-1	tier1	-	no_errors	ENST00000358825	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.999	A
PRDM13	59336	genome.wustl.edu	37	6	100062377	100062377	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:100062377G>A	ENST00000369215.4	+	4	2171	c.1866G>A	c.(1864-1866)ctG>ctA	p.L622L		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	622					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACATCCGGCTGCACGCCGAGG	0.637																																																	0													32.0	36.0	35.0					6																	100062377		2062	4206	6268	SO:0001819	synonymous_variant	0			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1866G>A	6.37:g.100062377G>A			Q5TGC1|Q5TGC2	Silent	SNP	smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.L622	ENST00000369215.4	37	c.1866	CCDS43487.1	6																																																																																			PRDM13	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000112238		0.637	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRDM13	HGNC	protein_coding	OTTHUMT00000041619.2	-	0.00	52	0	G			100062377	+1	tier1	-	no_errors	ENST00000369215	ensembl	human	known	74_37	silent	28.00	36	14	SNP	1.000	A
PRDM4	11108	genome.wustl.edu	37	12	108128295	108128295	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:108128295G>A	ENST00000228437.5	-	12	2557	c.2098C>T	c.(2098-2100)Cgc>Tgc	p.R700C	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	700					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTGATCTGGCGTTCTCTAAGA	0.403																																																	0													119.0	120.0	120.0					12																	108128295		2203	4300	6503	SO:0001583	missense	0			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2098C>T	12.37:g.108128295G>A	ENSP00000228437:p.Arg700Cys		Q9UFA6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2	p.R700C	ENST00000228437.5	37	c.2098	CCDS9115.1	12	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807263	0.90623	.	.	ENSG00000110851	ENST00000228437	T	0.20463	2.07	6.03	5.11	0.69529	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.098018	0.64402	D	0.000001	T	0.60064	0.2240	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71906	-0.4451	10	0.87932	D	0	-2.0352	16.7691	0.85532	0.0:0.0:0.8706:0.1294	.	700	Q9UKN5	PRDM4_HUMAN	C	700	ENSP00000228437:R700C	ENSP00000228437:R700C	R	-	1	0	PRDM4	106652425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.840000	0.86819	2.868000	0.98415	0.555000	0.69702	CGC	PRDM4	-	pirsf_Znf_PRDM4,pfscan_Znf_C2H2	ENSG00000110851		0.403	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM4	HGNC	protein_coding	OTTHUMT00000406546.1		0.00	32	0	G	NM_012406		108128295	-1			no_errors	ENST00000228437	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	A
PRG4	10216	genome.wustl.edu	37	1	186273952	186273954	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:186273952_186273954delTCC	ENST00000445192.2	+	6	541_543	c.496_498delTCC	c.(496-498)tccdel	p.S177del	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_In_Frame_Del_p.S136del|PRG4_ENST00000367483.4_In_Frame_Del_p.S136del|PRG4_ENST00000367486.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	177	Ser-rich.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAATCAAGAGtcctcctcctcct	0.355																																																	0																																										SO:0001651	inframe_deletion	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.496_498delTCC	1.37:g.186273961_186273963delTCC	ENSP00000399679:p.Ser177del		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.S169in_frame_del	ENST00000445192.2	37	c.496_498	CCDS1369.1	1																																																																																			PRG4	-	NULL	ENSG00000116690		0.355	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1		0.00	47	0	TCC	NM_005807		186273954	+1	tier1		no_errors	ENST00000445192	ensembl	human	known	74_37	in_frame_del	28.12	46	18	DEL	1.000:1.000:1.000	-
PRG4	10216	genome.wustl.edu	37	1	186276771	186276771	+	Silent	SNP	C	C	T	rs561412418		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:186276771C>T	ENST00000445192.2	+	7	1965	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P	PRG4_ENST00000367485.4_Silent_p.P547P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.P599P|PRG4_ENST00000367486.3_Silent_p.P597P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	640	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGAGAAGCCCGCACCCACCA	0.692													-|||	1	0.000199681	0.0	0.0	5008	,	,		7274	0.001		0.0	False		,,,				2504	0.0																0													27.0	31.0	30.0					1																	186276771		2198	4290	6488	SO:0001819	synonymous_variant	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1920C>T	1.37:g.186276771C>T			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.P640	ENST00000445192.2	37	c.1920	CCDS1369.1	1																																																																																			PRG4	-	NULL	ENSG00000116690		0.692	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	-	0.00	76	0	C	NM_005807		186276771	+1	tier1	rs142961862	no_errors	ENST00000445192	ensembl	human	known	74_37	silent	30.16	44	19	SNP	0.000	T
PRKCB	5579	genome.wustl.edu	37	16	24105543	24105543	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:24105543T>C	ENST00000321728.7	+	7	921	c.746T>C	c.(745-747)tTg>tCg	p.L249S	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Missense_Mutation_p.L249S	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	249	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GATTGGGATTTGACCAGCAGG	0.423																																																	0													163.0	149.0	154.0					16																	24105543		2197	4300	6497	SO:0001583	missense	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.746T>C	16.37:g.24105543T>C	ENSP00000318315:p.Leu249Ser		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.L249S	ENST00000321728.7	37	c.746	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	T	16.18	3.050741	0.55218	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.68331	-0.32;-0.32	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.084958	0.49305	D	0.000154	T	0.52853	0.1760	N	0.20357	0.565	0.58432	D	0.999997	B;B	0.16603	0.013;0.018	B;B	0.22152	0.015;0.038	T	0.48091	-0.9065	10	0.27082	T	0.32	.	14.8443	0.70249	0.0:0.0:0.0:1.0	.	249;249	P05771-2;P05771	.;KPCB_HUMAN	S	249	ENSP00000318315:L249S;ENSP00000305355:L249S	ENSP00000305355:L249S	L	+	2	0	PRKCB	24013044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.660000	0.61511	2.088000	0.63022	0.533000	0.62120	TTG	PRKCB	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom	ENSG00000166501		0.423	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	-	0.00	74	0	T	NM_212535		24105543	+1	tier1	-	no_errors	ENST00000303531	ensembl	human	known	74_37	missense	19.18	59	14	SNP	1.000	C
PRKCZ	5590	genome.wustl.edu	37	1	2116391	2116391	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:2116391G>A	ENST00000400921.2	+	15	1856	c.1173G>A	c.(1171-1173)gaG>gaA	p.E391E	RP11-181G12.2_ENST00000444529.1_RNA|RP11-181G12.2_ENST00000536678.1_RNA|C1orf86_ENST00000400919.3_3'UTR|PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.E391E|RP11-181G12.2_ENST00000333854.2_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	574	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	ACCAGTCAGAGTTCGAAGGCT	0.577																																																	0													137.0	118.0	124.0					1																	2116391		2203	4299	6502	SO:0001819	synonymous_variant	0			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.1173G>A	1.37:g.2116391G>A			A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.E574	ENST00000400921.2	37	c.1722	CCDS41229.1	1																																																																																			PRKCZ	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_PKC_zeta	ENSG00000067606		0.577	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	PRKCZ	HGNC	protein_coding	OTTHUMT00000098533.3	-	0.00	57	0	G	NM_002744		2116391	+1	tier1	-	no_errors	ENST00000378567	ensembl	human	known	74_37	silent	15.22	39	7	SNP	1.000	A
PRKD1	5587	genome.wustl.edu	37	14	30046584	30046584	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:30046584G>T	ENST00000331968.5	-	18	2828	c.2599C>A	c.(2599-2601)Ctg>Atg	p.L867M	PRKD1_ENST00000415220.2_Missense_Mutation_p.L875M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	867					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCCCACCTCAGGTCATCACTT	0.498																																																	0													146.0	128.0	134.0					14																	30046584		2203	4300	6503	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2599C>A	14.37:g.30046584G>T	ENSP00000333568:p.Leu867Met		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L867M	ENST00000331968.5	37	c.2599	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961523	0.34565	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.66099	-0.19;-0.19	6.03	0.795	0.18643	Protein kinase-like domain (1);	0.508110	0.19082	N	0.123214	T	0.46328	0.1387	N	0.24115	0.695	0.22171	N	0.999315	B	0.19817	0.039	B	0.26693	0.072	T	0.43081	-0.9413	10	0.66056	D	0.02	-0.9467	9.5651	0.39394	0.6669:0.0:0.3331:0.0	.	867	Q15139	KPCD1_HUMAN	M	867;875	ENSP00000333568:L867M;ENSP00000390535:L875M	ENSP00000333568:L867M	L	-	1	2	PRKD1	29116335	0.004000	0.15560	0.293000	0.24932	0.953000	0.61014	0.092000	0.15066	-0.056000	0.13221	-0.290000	0.09829	CTG	PRKD1	-	superfamily_Kinase-like_dom	ENSG00000184304		0.498	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0.00	55	0	G	NM_002742		30046584	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	missense	31.11	31	14	SNP	0.029	T
PRKDC	5591	genome.wustl.edu	37	8	48767818	48767818	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:48767818G>A	ENST00000314191.2	-	51	6779	c.6723C>T	c.(6721-6723)gtC>gtT	p.V2241V	PRKDC_ENST00000338368.3_Silent_p.V2241V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2242					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TCCAGCACTCGACAAGGGTCT	0.338								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													76.0	68.0	71.0					8																	48767818		1825	4083	5908	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6723C>T	8.37:g.48767818G>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.V2241	ENST00000314191.2	37	c.6723		8																																																																																			PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.338	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0.00	49	0	G	NM_001081640		48767818	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.976	A
PRKDC	5591	genome.wustl.edu	37	8	48776098	48776098	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:48776098A>G	ENST00000314191.2	-	43	5665	c.5609T>C	c.(5608-5610)aTg>aCg	p.M1870T	PRKDC_ENST00000338368.3_Missense_Mutation_p.M1870T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1871					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAGTAGCCCATCTTCTTGGT	0.323								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													163.0	159.0	160.0					8																	48776098		1827	4089	5916	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5609T>C	8.37:g.48776098A>G	ENSP00000313420:p.Met1870Thr		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.M1870T	ENST00000314191.2	37	c.5609		8	.	.	.	.	.	.	.	.	.	.	A	10.34	1.324466	0.24080	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.30182	1.54;1.54	5.86	5.86	0.93980	NUC194 (1);Armadillo-type fold (1);	0.221457	0.47455	D	0.000223	T	0.29817	0.0745	L	0.48362	1.52	0.30762	N	0.743973	B;B	0.18166	0.026;0.026	B;B	0.23716	0.048;0.048	T	0.26538	-1.0100	10	0.51188	T	0.08	.	12.1575	0.54085	0.8574:0.1426:0.0:0.0	.	1870;1871	E7EUY0;P78527	.;PRKDC_HUMAN	T	1870	ENSP00000313420:M1870T;ENSP00000345182:M1870T	ENSP00000313420:M1870T	M	-	2	0	PRKDC	48938651	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.156000	0.31712	2.240000	0.73641	0.533000	0.62120	ATG	PRKDC	-	pfam_NUC194,superfamily_ARM-type_fold	ENSG00000253729		0.323	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0.00	41	0	A	NM_001081640		48776098	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	18.42	62	14	SNP	1.000	G
PRKG2	5593	genome.wustl.edu	37	4	82061765	82061765	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:82061765A>G	ENST00000395578.1	-	12	1582	c.1466T>C	c.(1465-1467)aTa>aCa	p.I489T	PRKG2_ENST00000418486.2_Missense_Mutation_p.I460T|PRKG2_ENST00000545647.1_Missense_Mutation_p.I69T|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.I489T			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	489	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GGTGTCAACTATGTGCTTCTT	0.388																																																	0													170.0	150.0	157.0					4																	82061765		2203	4300	6503	SO:0001583	missense	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1466T>C	4.37:g.82061765A>G	ENSP00000378945:p.Ile489Thr		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.I489T	ENST00000395578.1	37	c.1466	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080339	0.76528	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.149639	0.56097	D	0.000021	T	0.75413	0.3846	L	0.53561	1.675	0.58432	D	0.999996	D;D	0.69078	0.997;0.984	D;D	0.71414	0.973;0.955	T	0.77539	-0.2550	10	0.87932	D	0	-23.8938	16.1396	0.81513	1.0:0.0:0.0:0.0	.	460;489	E7EPE6;Q13237	.;KGP2_HUMAN	T	489;489;460;69	ENSP00000378945:I489T;ENSP00000264399:I489T;ENSP00000389038:I460T;ENSP00000439967:I69T	ENSP00000264399:I489T	I	-	2	0	PRKG2	82280789	1.000000	0.71417	0.948000	0.38648	0.606000	0.37113	9.231000	0.95317	2.288000	0.76882	0.528000	0.53228	ATA	PRKG2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_dom	ENSG00000138669		0.388	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	-	0.00	24	0	A	NM_006259		82061765	-1	tier1	-	no_errors	ENST00000264399	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.999	G
PRKRIR	5612	genome.wustl.edu	37	11	76062779	76062779	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:76062779C>T	ENST00000260045.3	-	5	1520	c.1415G>A	c.(1414-1416)aGt>aAt	p.S472N	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	472					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGACACTGCACTGCAGAGTAC	0.368																																																	0													43.0	45.0	45.0					11																	76062779		2197	4291	6488	SO:0001583	missense	0			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1415G>A	11.37:g.76062779C>T	ENSP00000260045:p.Ser472Asn		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.S472N	ENST00000260045.3	37	c.1415	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607590	0.28623	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.21734	1.99;1.99	4.99	4.99	0.66335	Ribonuclease H-like (1);	0.181445	0.64402	D	0.000004	T	0.18467	0.0443	L	0.41236	1.265	0.40872	D	0.983922	B	0.18741	0.03	B	0.10450	0.005	T	0.04870	-1.0921	10	0.20519	T	0.43	.	15.2049	0.73173	0.0:0.8589:0.1411:0.0	.	472	O43422	P52K_HUMAN	N	297;472	ENSP00000436249:S297N;ENSP00000260045:S472N	ENSP00000260045:S472N	S	-	2	0	PRKRIR	75740427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.607000	0.46300	2.527000	0.85204	0.644000	0.83932	AGT	PRKRIR	-	superfamily_RNaseH-like_dom	ENSG00000137492		0.368	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	HGNC	protein_coding	OTTHUMT00000383188.1	-	0.00	56	0	C	NM_004705		76062779	-1	tier1	-	no_errors	ENST00000260045	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	T
CERS3	204219	genome.wustl.edu	37	15	101088126	101088126	+	5'Flank	DEL	T	T	-	rs532048470	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:101088126delT	ENST00000560944.1	-	0	0				RP11-526I2.5_ENST00000602585.1_lincRNA			Q8IU89	CERS3_HUMAN	ceramide synthase 3						ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CATGCTACAGTTTTTTTTTTC	0.348																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568		15.37:g.101088126delT	Exception_encountered		Q8NE64|Q8NEN6	RNA	DEL	-	NULL	ENST00000560944.1	37	NULL		15																																																																																			RP11-526I2.5	-	-	ENSG00000270127		0.348	CERS3-009	KNOWN	basic	processed_transcript	PRKXP1	Clone_based_vega_gene	protein_coding	OTTHUMT00000417720.1		0.00	23	0	T	NM_178842		101088126	-1	tier1		no_errors	ENST00000602585	ensembl	human	known	74_37	rna	20.00	20	5	DEL	0.000	-
PRMT8	56341	genome.wustl.edu	37	12	3600863	3600863	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:3600863C>A	ENST00000382622.3	+	1	462	c.72C>A	c.(70-72)acC>acA	p.T24T	PRMT8_ENST00000452611.2_Intron	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	24					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCGAGAGCACCGAGGTAAGGA	0.677																																																	0													40.0	38.0	39.0					12																	3600863		2201	4300	6501	SO:0001819	synonymous_variant	0			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.72C>A	12.37:g.3600863C>A			B2RDP0|Q8TBJ8	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.T24	ENST00000382622.3	37	c.72	CCDS8521.2	12																																																																																			PRMT8	-	NULL	ENSG00000111218		0.677	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	-	0.00	22	0	C	NM_019854		3600863	+1	tier1	-	no_errors	ENST00000382622	ensembl	human	known	74_37	silent	19.23	21	5	SNP	0.999	A
PROB1	389333	genome.wustl.edu	37	5	138728473	138728473	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:138728473C>A	ENST00000434752.2	-	1	2412	c.2298G>T	c.(2296-2298)caG>caT	p.Q766H	MZB1_ENST00000412103.2_5'Flank|MZB1_ENST00000457570.2_5'Flank|MZB1_ENST00000302125.8_5'Flank	NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	766	Pro-rich.																GGACCAGGCGCTGGGCCTCTA	0.746																																																	0													8.0	11.0	10.0					5																	138728473		688	1584	2272	SO:0001583	missense	0			AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.2298G>T	5.37:g.138728473C>A	ENSP00000416033:p.Gln766His		B4E007	Missense_Mutation	SNP	NULL	p.Q766H	ENST00000434752.2	37	c.2298	CCDS54909.1	5	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396394	0.25205	.	.	ENSG00000228672	ENST00000434752	.	.	.	4.17	2.29	0.28610	.	.	.	.	.	T	0.32615	0.0835	L	0.34521	1.04	0.22684	N	0.998854	P	0.47677	0.899	P	0.47376	0.545	T	0.09862	-1.0655	8	0.52906	T	0.07	-2.6608	8.5831	0.33642	0.173:0.6598:0.1672:0.0	.	766	E7EW31	CE065_HUMAN	H	766	.	ENSP00000416033:Q766H	Q	-	3	2	AC135457.1	138756372	0.002000	0.14202	0.025000	0.17156	0.004000	0.04260	0.937000	0.28951	0.476000	0.27440	-0.310000	0.09108	CAG	PROB1	-	NULL	ENSG00000228672		0.746	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROB1	HGNC	protein_coding	OTTHUMT00000470735.1	-	0.00	40	0	C	NM_001161546		138728473	-1	tier1	-	no_errors	ENST00000434752	ensembl	human	known	74_37	missense	31.71	28	13	SNP	0.575	A
PROX1	5629	genome.wustl.edu	37	1	214169975	214169975	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:214169975delT	ENST00000366958.4	+	2	705	c.97delT	c.(97-99)tttfs	p.F34fs	PROX1_ENST00000261454.4_Frame_Shift_Del_p.F34fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.F34fs|PROX1_ENST00000498508.2_Frame_Shift_Del_p.F34fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	34					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGCATCTGCATTTTTTGCTAA	0.483																																																	0													130.0	113.0	119.0					1																	214169975		2203	4300	6503	SO:0001589	frameshift_variant	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.97delT	1.37:g.214169975delT	ENSP00000355925:p.Phe34fs		A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Del	DEL	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.F34fs	ENST00000366958.4	37	c.97	CCDS31021.1	1																																																																																			PROX1	-	NULL	ENSG00000117707		0.483	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6		0.00	67	0	T	NM_002763		214169975	+1	tier1		no_errors	ENST00000261454	ensembl	human	known	74_37	frame_shift_del	13.64	57	9	DEL	1.000	-
PRPF40A	55660	genome.wustl.edu	37	2	153520287	153520288	+	Splice_Site	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:153520287_153520288insA	ENST00000410080.1	-	19	2513		c.e19-2			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCCTTTATCCTAAAAAAAAGAA	0.252																																																	0																																										SO:0001630	splice_region_variant	0			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1972-2->T	2.37:g.153520295_153520295dupA			O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Splice_Site	INS	-	e19-2	ENST00000410080.1	37	c.1972-3_1972-2	CCDS46430.1	2																																																																																			PRPF40A	-	-	ENSG00000196504		0.252	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2		0.00	49	0	-	XM_371575	Intron	153520288	-1	tier1		no_errors	ENST00000410080	ensembl	human	known	74_37	splice_site_ins	25.53	35	12	INS	1.000:0.141	A
PRPF40B	25766	genome.wustl.edu	37	12	50026386	50026386	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:50026386C>T	ENST00000380281.1	+	4	300	c.236C>T	c.(235-237)cCg>cTg	p.P79L	PRPF40B_ENST00000548825.2_Missense_Mutation_p.P101L|PRPF40B_ENST00000261897.1_Missense_Mutation_p.P73L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	79					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.P79L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CAGACGGCTCCGGGTGCGGAC	0.697																																																	1	Substitution - Missense(1)	large_intestine(1)											58.0	66.0	63.0					12																	50026386		2203	4299	6502	SO:0001583	missense	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.236C>T	12.37:g.50026386C>T	ENSP00000369634:p.Pro79Leu		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.P101L	ENST00000380281.1	37	c.302		12	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374969	0.42105	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.30981	1.54;1.54;1.51	4.99	4.99	0.66335	.	0.216556	0.32231	N	0.006392	T	0.46112	0.1376	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.982;0.992;0.992	T	0.14643	-1.0465	9	.	.	.	-20.8841	16.156	0.81666	0.0:1.0:0.0:0.0	.	79;73;79	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	L	101;73;79	ENSP00000448073:P101L;ENSP00000261897:P73L;ENSP00000369634:P79L	.	P	+	2	0	PRPF40B	48312653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.479000	0.45197	2.764000	0.94973	0.561000	0.74099	CCG	PRPF40B	-	NULL	ENSG00000110844		0.697	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	-	0.00	69	0	C	NM_012272		50026386	+1	tier1	-	no_errors	ENST00000548825	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
PRPF4B	8899	genome.wustl.edu	37	6	4052975	4052975	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:4052975delA	ENST00000337659.6	+	11	2434	c.2334delA	c.(2332-2334)ttafs	p.L778fs	PRPF4B_ENST00000538861.1_Frame_Shift_Del_p.L764fs	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	778	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAGAGGTGTTAAAAAAATATG	0.299																																																	0													76.0	75.0	76.0					6																	4052975		2203	4300	6503	SO:0001589	frameshift_variant	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2334delA	6.37:g.4052975delA	ENSP00000337194:p.Leu778fs		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K780fs	ENST00000337659.6	37	c.2334	CCDS4488.1	6																																																																																			PRPF4B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000112739		0.299	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2		0.00	30	0	A			4052975	+1	tier1		no_errors	ENST00000337659	ensembl	human	known	74_37	frame_shift_del	15.69	43	8	DEL	1.000	-
PRPF8	10594	genome.wustl.edu	37	17	1582092	1582092	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:1582092G>A	ENST00000572621.1	-	11	1948	c.1683C>T	c.(1681-1683)caC>caT	p.H561H	PRPF8_ENST00000304992.6_Silent_p.H561H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	561					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATACTGCACGTGACTATCCA	0.522																																																	0													70.0	64.0	66.0					17																	1582092		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1683C>T	17.37:g.1582092G>A			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.H561	ENST00000572621.1	37	c.1683	CCDS11010.1	17																																																																																			PRPF8	-	pfam_PROCN,superfamily_Histone-fold	ENSG00000174231		0.522	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2		0.00	29	0	G			1582092	-1			no_errors	ENST00000304992	ensembl	human	known	74_37	silent	20.00	8	2	SNP	0.891	A
PRR12	57479	genome.wustl.edu	37	19	50097858	50097858	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50097858C>A	ENST00000418929.2	+	3	359	c.347C>A	c.(346-348)cCt>cAt	p.P116H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCCGCAGTCCTTCCTGGCAA	0.677																																																	0													32.0	38.0	36.0					19																	50097858		1920	4116	6036	SO:0001583	missense	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.347C>A	19.37:g.50097858C>A	ENSP00000394510:p.Pro116His		E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.P116H	ENST00000418929.2	37	c.347	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636810	0.29068	.	.	ENSG00000126464	ENST00000418929	T	0.27256	1.68	4.65	2.49	0.30216	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.33142	D	0.544556	B	0.33940	0.433	B	0.38264	0.269	T	0.35549	-0.9784	8	0.87932	D	0	.	8.4258	0.32729	0.1538:0.763:0.0:0.0832	.	116	Q9ULL5-3	.	H	116	ENSP00000394510:P116H	ENSP00000394510:P116H	P	+	2	0	PRR12	54789670	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.984000	0.76186	0.572000	0.29383	0.563000	0.77884	CCT	PRR12	-	NULL	ENSG00000126464		0.677	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	-	0.00	62	0	C	NM_020719		50097858	+1	tier1	-	no_errors	ENST00000418929	ensembl	human	novel	74_37	missense	10.64	42	5	SNP	0.999	A
PRR14L	253143	genome.wustl.edu	37	22	32099549	32099549	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:32099549delG	ENST00000327423.6	-	6	6176	c.5987delC	c.(5986-5988)ccafs	p.P1996fs	PRR14L_ENST00000434485.1_Frame_Shift_Del_p.P1996fs|PRR14L_ENST00000397493.2_Frame_Shift_Del_p.P1996fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1996										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TTTCTGTTCTGGGGGGCTGCT	0.532																																																	0													106.0	104.0	105.0					22																	32099549		2203	4300	6503	SO:0001589	frameshift_variant	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5987delC	22.37:g.32099549delG	ENSP00000331845:p.Pro1996fs		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Frame_Shift_Del	DEL	NULL	p.P1996fs	ENST00000327423.6	37	c.5987	CCDS13900.2	22																																																																																			PRR14L	-	NULL	ENSG00000183530		0.532	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2		0.00	47	0	G	NM_173566		32099549	-1	tier1		no_errors	ENST00000397493	ensembl	human	known	74_37	frame_shift_del	18.00	41	9	DEL	0.508	-
PRR14L	253143	genome.wustl.edu	37	22	32111916	32111916	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:32111916A>G	ENST00000327423.6	-	4	2098	c.1909T>C	c.(1909-1911)Tgt>Cgt	p.C637R	PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000434485.1_Missense_Mutation_p.C637R|PRR14L_ENST00000397493.2_Missense_Mutation_p.C637R	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	637										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TCATTGGTACAAGAAAGTTCA	0.358																																																	0													164.0	134.0	143.0					22																	32111916		692	1591	2283	SO:0001583	missense	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.1909T>C	22.37:g.32111916A>G	ENSP00000331845:p.Cys637Arg		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.C637R	ENST00000327423.6	37	c.1909	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	A	4.223	0.040222	0.08148	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.06068	3.35;3.36;3.35	5.4	2.06	0.26882	.	0.798245	0.11068	N	0.603263	T	0.10852	0.0265	L	0.50333	1.59	0.09310	N	0.999997	D;P;D	0.55172	0.97;0.919;0.97	P;P;P	0.52856	0.584;0.584;0.711	T	0.24297	-1.0164	9	.	.	.	3.8596	4.813	0.13353	0.67:0.1592:0.1709:0.0	.	637;637;637	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	R	637	ENSP00000380630:C637R;ENSP00000331845:C637R;ENSP00000388314:C637R	.	C	-	1	0	PRR14L	30441916	0.000000	0.05858	0.003000	0.11579	0.803000	0.45373	0.628000	0.24522	0.105000	0.17753	0.533000	0.62120	TGT	PRR14L	-	NULL	ENSG00000183530		0.358	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	-	0.00	62	0	A	NM_173566		32111916	-1	tier1	-	no_errors	ENST00000397493	ensembl	human	known	74_37	missense	10.34	52	6	SNP	0.015	G
PRR5L	79899	genome.wustl.edu	37	11	36472847	36472847	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:36472847G>T	ENST00000378867.3	+	9	1029	c.674G>T	c.(673-675)aGc>aTc	p.S225I	PRR5L_ENST00000530639.1_Missense_Mutation_p.S225I|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.S152I|PRR5L_ENST00000527487.1_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	225					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CTCGGCATCAGCGGGGACCGT	0.527																																																	0													146.0	118.0	128.0					11																	36472847		2202	4298	6500	SO:0001583	missense	0				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.674G>T	11.37:g.36472847G>T	ENSP00000368144:p.Ser225Ile		A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	pfam_HbrB	p.S225I	ENST00000378867.3	37	c.674	CCDS31463.1	11	.	.	.	.	.	.	.	.	.	.	G	6.310	0.425326	0.11987	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.81078	-1.45;-1.45;-1.45	5.16	4.24	0.50183	.	0.445292	0.23110	N	0.051815	T	0.79167	0.4400	L	0.53249	1.67	0.29841	N	0.829257	P;B	0.39883	0.693;0.0	P;B	0.46975	0.533;0.003	T	0.74176	-0.3750	10	0.31617	T	0.26	-14.6002	9.2211	0.37377	0.1637:0.0:0.8363:0.0	.	97;225	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	I	225;152;225	ENSP00000435050:S225I;ENSP00000310103:S152I;ENSP00000368144:S225I	ENSP00000310103:S152I	S	+	2	0	PRR5L	36429423	1.000000	0.71417	0.990000	0.47175	0.185000	0.23345	3.955000	0.56715	2.417000	0.82017	0.313000	0.20887	AGC	PRR5L	-	NULL	ENSG00000135362		0.527	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	-	0.00	72	0	G	NM_024841		36472847	+1	tier1	-	no_errors	ENST00000378867	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.931	T
PRRC2B	84726	genome.wustl.edu	37	9	134319642	134319642	+	Silent	SNP	G	G	A	rs370981276		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:134319642G>A	ENST00000357304.4	+	5	595	c.540G>A	c.(538-540)ggG>ggA	p.G180G	PRRC2B_ENST00000458550.1_Silent_p.G180G|PRRC2B_ENST00000405995.1_Silent_p.G180G|PRRC2B_ENST00000372249.1_5'Flank	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	180							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGCTGGAGGGCAGGACAAGG	0.562																																																	0								G		0,4026		0,0,2013	54.0	56.0	55.0		540	4.6	1.0	9		55	3,8373		0,3,4185	no	coding-synonymous	PRRC2B	NM_013318.3		0,3,6198	AA,AG,GG		0.0358,0.0,0.0242		180/2230	134319642	3,12399	2013	4188	6201	SO:0001819	synonymous_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.540G>A	9.37:g.134319642G>A			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	pfam_BAT2_N	p.G180	ENST00000357304.4	37	c.540	CCDS48044.1	9																																																																																			PRRC2B	-	pfam_BAT2_N	ENSG00000130723		0.562	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		-	0.00	65	0	G			134319642	+1	tier1	-	no_errors	ENST00000357304	ensembl	human	known	74_37	silent	26.92	38	14	SNP	1.000	A
PRRC2C	23215	genome.wustl.edu	37	1	171535520	171535520	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:171535520G>A	ENST00000338920.4	+	21	6497	c.6260G>A	c.(6259-6261)cGg>cAg	p.R2087Q	PRRC2C_ENST00000426496.2_Missense_Mutation_p.R2087Q|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R2089Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R2089Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2087					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AAAGAACAGCGGCAGAAGCAG	0.403																																																	0													24.0	25.0	25.0					1																	171535520		2203	4294	6497	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.6260G>A	1.37:g.171535520G>A	ENSP00000343629:p.Arg2087Gln		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.R2089Q	ENST00000338920.4	37	c.6266	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.084850|4.084850	0.76642|0.76642	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.02177	.|4.41;4.43;4.43;4.43	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.42548	.|D	.|0.000682	T|T	0.05410|0.05410	0.0143|0.0143	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999994|0.999994	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.58008|0.58008	-0.7712|-0.7712	5|10	.|0.16420	.|T	.|0.52	.|.	18.6804|18.6804	0.91545|0.91545	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2087	.|Q9Y520-4	.|.	S|Q	635|2089;2041;2087;2089;2087;1844	.|ENSP00000375928:R2089Q;ENSP00000410219:R2087Q;ENSP00000356716:R2089Q;ENSP00000343629:R2087Q	.|ENSP00000343629:R2087Q	G|R	+|+	1|2	0|0	PRRC2C|PRRC2C	169802144|169802144	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.987000|0.987000	0.75469|0.75469	9.334000|9.334000	0.96470|0.96470	2.396000|2.396000	0.81511|0.81511	0.655000|0.655000	0.94253|0.94253	GGC|CGG	PRRC2C	-	NULL	ENSG00000117523		0.403	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	-	0.00	48	0	G	NM_015172		171535520	+1	tier1	-	no_errors	ENST00000392078	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A
PRRT3	285368	genome.wustl.edu	37	3	9989596	9989596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:9989596G>A	ENST00000412055.1	-	4	1390	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	421	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GTGGTGACTCGAATGAGGCCC	0.706																																																	0													4.0	5.0	4.0					3																	9989596		1977	4021	5998	SO:0001587	stop_gained	0			AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1261C>T	3.37:g.9989596G>A	ENSP00000392511:p.Arg421*		Q49AD0|Q6UXY6|Q8NBC9	Nonsense_Mutation	SNP	NULL	p.R421*	ENST00000412055.1	37	c.1261	CCDS43049.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.494178	0.97612	.	.	ENSG00000163704	ENST00000412055	.	.	.	4.96	4.06	0.47325	.	0.158819	0.29699	N	0.011432	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.73	12.037	0.53431	0.0:0.0:0.82:0.18	.	.	.	.	X	421	.	.	R	-	1	2	PRRT3	9964596	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.098000	0.31000	1.244000	0.43870	0.563000	0.77884	CGA	PRRT3	-	NULL	ENSG00000163704		0.706	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT3	HGNC	protein_coding	OTTHUMT00000339322.1	-	0.00	27	0	G	NM_207351		9989596	-1	tier1	-	no_errors	ENST00000295984	ensembl	human	known	74_37	nonsense	23.53	13	4	SNP	1.000	A
PRSS22	64063	genome.wustl.edu	37	16	2903146	2903146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2903146delC	ENST00000161006.3	-	6	967	c.902delG	c.(901-903)ggtfs	p.G302fs	PRSS22_ENST00000571228.1_Frame_Shift_Del_p.G192fs|PRSS22_ENST00000574768.1_5'Flank	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	302						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GAGGGCCCCACCCCCCTGAGC	0.726																																																	0													11.0	14.0	13.0					16																	2903146		2146	4210	6356	SO:0001589	frameshift_variant	0			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.902delG	16.37:g.2903146delC	ENSP00000161006:p.Gly302fs		O43342|Q6UXE0	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.G301fs	ENST00000161006.3	37	c.902	CCDS10481.1	16																																																																																			PRSS22	-	NULL	ENSG00000005001		0.726	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS22	HGNC	protein_coding	OTTHUMT00000250943.1		0.00	10	0	C	NM_022119		2903146	-1	tier1		no_errors	ENST00000161006	ensembl	human	known	74_37	frame_shift_del	40.00	6	4	DEL	0.010	-
PRSS42	339906	genome.wustl.edu	37	3	46875570	46875570	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:46875570C>T	ENST00000429665.1	-	1	15	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	PRSS42_ENST00000447340.1_5'Flank	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	6					germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CCCCGGGAGCCGCCGCCAGAG	0.726																																																	0													3.0	6.0	5.0					3																	46875570		1698	3771	5469	SO:0001583	missense	0				CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"""Serine peptidases / Serine peptidases"""	30716	protein-coding gene	gene with protein product	"""testis serine protease 2"""					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.16G>A	3.37:g.46875570C>T	ENSP00000401701:p.Gly6Ser			Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G6S	ENST00000429665.1	37	c.16	CCDS46816.1	3	.	.	.	.	.	.	.	.	.	.	C	8.406	0.843126	0.16963	.	.	ENSG00000178055	ENST00000429665	D	0.87571	-2.27	2.85	-1.36	0.09085	.	0.739382	0.11138	N	0.595613	T	0.66607	0.2806	N	0.14661	0.345	0.09310	N	1	D	0.53745	0.962	B	0.37198	0.243	T	0.62959	-0.6743	10	0.25106	T	0.35	.	2.2014	0.03924	0.1842:0.3361:0.3612:0.1185	.	6	Q7Z5A4	PRS42_HUMAN	S	6	ENSP00000401701:G6S	ENSP00000401701:G6S	G	-	1	0	PRSS42	46850574	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.322000	0.08007	-0.355000	0.08199	-0.693000	0.03709	GGC	PRSS42	-	NULL	ENSG00000178055		0.726	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS42	HGNC	protein_coding	OTTHUMT00000344347.1	-	0.00	39	0	C	NM_182702		46875570	-1	tier1	-	no_errors	ENST00000429665	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.000	T
PRSS51	346702	genome.wustl.edu	37	8	10356254	10356254	+	RNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:10356254C>T	ENST00000523024.1	-	0	220				PRSS51_ENST00000521149.1_RNA					protease, serine, 51																		GGACTTGAAGCCGTTCATGAA	0.473																																																	0																																												0					8p23.1	2013-01-16			ENSG00000253649	ENSG00000253649			37321	other	unknown							Standard			Approved				OTTHUMG00000163805		8.37:g.10356254C>T				RNA	SNP	-	NULL	ENST00000523024.1	37	NULL		8																																																																																			PRSS51	-	-	ENSG00000253649		0.473	PRSS51-002	KNOWN	basic	antisense	PRSS51	HGNC	antisense	OTTHUMT00000375669.1	-	0.00	36	0	C			10356254	-1	tier1	-	no_errors	ENST00000521149	ensembl	human	known	74_37	rna	10.20	44	5	SNP	0.013	T
PSD4	23550	genome.wustl.edu	37	2	113956432	113956432	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:113956432C>A	ENST00000245796.6	+	15	2935	c.2740C>A	c.(2740-2742)Ctg>Atg	p.L914M	PSD4_ENST00000441564.3_Missense_Mutation_p.L885M	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	914					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGGCCCATCCTGCCCGTGGG	0.716																																																	0													9.0	10.0	10.0					2																	113956432		2165	4224	6389	SO:0001583	missense	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2740C>A	2.37:g.113956432C>A	ENSP00000245796:p.Leu914Met		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.L914M	ENST00000245796.6	37	c.2740	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458484	0.63401	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.80393	-1.37;-1.37	5.31	4.43	0.53597	.	0.000000	0.64402	D	0.000001	D	0.87249	0.6130	M	0.71581	2.175	0.80722	D	1	P;P;P;D	0.65815	0.652;0.655;0.901;0.995	P;P;P;P	0.60173	0.511;0.644;0.87;0.812	D	0.87685	0.2550	10	0.87932	D	0	.	14.8863	0.70572	0.0:0.9212:0.0:0.0788	.	144;571;885;914	B4DFU9;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;PSD4_HUMAN	M	914;885	ENSP00000245796:L914M;ENSP00000413997:L885M	ENSP00000245796:L914M	L	+	1	2	PSD4	113672903	1.000000	0.71417	0.998000	0.56505	0.389000	0.30415	2.838000	0.48199	0.635000	0.30488	-1.579000	0.00862	CTG	PSD4	-	NULL	ENSG00000125637		0.716	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0.00	23	0	C	NM_012455		113956432	+1	tier1	-	no_errors	ENST00000245796	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	A
PSD4	23550	genome.wustl.edu	37	2	113956438	113956438	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:113956438G>A	ENST00000245796.6	+	15	2941	c.2746G>A	c.(2746-2748)Gtg>Atg	p.V916M	PSD4_ENST00000441564.3_Missense_Mutation_p.V887M	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	916					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATCCTGCCCGTGGGCCCCGC	0.721																																																	0													8.0	9.0	9.0					2																	113956438		2159	4200	6359	SO:0001583	missense	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2746G>A	2.37:g.113956438G>A	ENSP00000245796:p.Val916Met		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.V916M	ENST00000245796.6	37	c.2746	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	G	7.237	0.600432	0.13939	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10099	2.91;2.91	5.31	-3.39	0.04868	.	0.904162	0.09578	N	0.783290	T	0.04861	0.0131	N	0.04636	-0.2	0.19775	N	0.99995	B;B;B;B	0.22800	0.019;0.075;0.024;0.014	B;B;B;B	0.19148	0.018;0.011;0.024;0.011	T	0.40478	-0.9561	10	0.35671	T	0.21	.	11.9096	0.52731	0.8059:0.0:0.1941:0.0	.	146;573;887;916	B4DFU9;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;PSD4_HUMAN	M	916;887	ENSP00000245796:V916M;ENSP00000413997:V887M	ENSP00000245796:V916M	V	+	1	0	PSD4	113672909	0.001000	0.12720	0.003000	0.11579	0.235000	0.25334	0.113000	0.15499	-0.582000	0.05929	0.491000	0.48974	GTG	PSD4	-	NULL	ENSG00000125637		0.721	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0.00	21	0	G	NM_012455		113956438	+1	tier1	-	no_errors	ENST00000245796	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.000	A
PSEN2	5664	genome.wustl.edu	37	1	227078994	227078994	+	Missense_Mutation	SNP	C	C	T	rs144277432	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:227078994C>T	ENST00000366783.3	+	10	1338	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PSEN2_ENST00000422240.2_Missense_Mutation_p.T301M|PSEN2_ENST00000340188.4_Missense_Mutation_p.T268M|PSEN2_ENST00000366782.1_Missense_Mutation_p.T334M|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000391872.2_Missense_Mutation_p.T334M|PSEN2_ENST00000472139.2_Missense_Mutation_p.T157M	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	301					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				ATGGTGTGGACGGTTGGCATG	0.632																																																	0			GRCh37	CM045430	PSEN2	M	rs144277432	C	MET/THR,MET/THR	0,4406		0,0,2203	57.0	50.0	52.0		902,902	3.4	0.6	1	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PSEN2	NM_000447.2,NM_012486.2	81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	301/449,301/448	227078994	2,13004	2203	4300	6503	SO:0001583	missense	0			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.902C>T	1.37:g.227078994C>T	ENSP00000355747:p.Thr301Met		A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS2,prints_Peptidase_A22A	p.T334M	ENST00000366783.3	37	c.1001	CCDS1556.1	1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.691166	0.30052	0.0	2.33E-4	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D;D	0.99709	-6.05;-6.48;-6.05;-6.05;-6.05;-6.05;-6.05	5.25	3.38	0.38709	.	0.381500	0.31177	N	0.008103	D	0.97663	0.9234	N	0.21194	0.64	0.36334	D	0.859047	P;P	0.37398	0.483;0.593	B;B	0.29663	0.105;0.067	D	0.98470	1.0600	10	0.38643	T	0.18	.	9.9972	0.41907	0.0:0.8357:0.0:0.1643	.	301;301	A8K8D4;P49810	.;PSN2_HUMAN	M	301;268;301;128;334;334;157	ENSP00000355747:T301M;ENSP00000339860:T268M;ENSP00000403737:T301M;ENSP00000427912:T128M;ENSP00000355746:T334M;ENSP00000375745:T334M;ENSP00000427806:T157M	ENSP00000339860:T268M	T	+	2	0	PSEN2	225145617	0.945000	0.32115	0.634000	0.29324	0.959000	0.62525	1.893000	0.39758	0.600000	0.29862	0.655000	0.94253	ACG	PSEN2	-	pfam_Peptidase_A22A,smart_Preselin/SPP	ENSG00000143801		0.632	PSEN2-001	KNOWN	basic|CCDS	protein_coding	PSEN2	HGNC	protein_coding	OTTHUMT00000091539.1	-	0.00	47	0	C	NM_000447		227078994	+1	tier1	rs144277432	no_errors	ENST00000391872	ensembl	human	known	74_37	missense	23.26	33	10	SNP	0.711	T
PSG2	5670	genome.wustl.edu	37	19	43585990	43585991	+	Intron	DEL	TT	TT	-	rs58620361	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:43585990_43585991delTT	ENST00000406487.1	-	2	163				PSG2_ENST00000491995.1_5'UTR	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2						cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ACCCTTGGTGTTTTTTTTTTTC	0.441																																																	0																																										SO:0001627	intron_variant	0				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.65-592AA>-	19.37:g.43585998_43585999delTT			Q8TCD9|Q9UEA4|Q9UQ78	RNA	DEL	-	NULL	ENST00000406487.1	37	NULL	CCDS12616.1	19																																																																																			PSG2	-	-	ENSG00000242221		0.441	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG2	HGNC	protein_coding	OTTHUMT00000323083.1		0.00	20	0	TT	NM_031246		43585991	-1	tier1		no_errors	ENST00000491995	ensembl	human	known	74_37	rna	41.18	10	7	DEL	0.004:0.005	-
PSG8	440533	genome.wustl.edu	37	19	43257204	43257204	+	IGR	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:43257204C>A	ENST00000306511.4	-	0	1441				PSG8_ENST00000401467.2_3'UTR|PSG8_ENST00000404209.4_3'UTR|PSG8_ENST00000406636.3_3'UTR|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				aagaggcaggcatgagcaagg	0.448																																																	0																																										SO:0001628	intergenic_variant	0			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118		19.37:g.43257204C>A			A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	RNA	SNP	-	NULL	ENST00000306511.4	37	NULL	CCDS33037.1	19																																																																																			PSG8	-	-	ENSG00000124467		0.448	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	HGNC	protein_coding	OTTHUMT00000464526.1	-	0.00	18	0	C			43257204	-1	tier1	-	no_errors	ENST00000600709	ensembl	human	known	74_37	rna	27.27	16	6	SNP	0.070	A
PSIP1	11168	genome.wustl.edu	37	9	15472612	15472613	+	Intron	DEL	AA	AA	-	rs201263257		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:15472612_15472613delAA	ENST00000380733.4	-	10	1321				PSIP1_ENST00000397519.2_Intron|PSIP1_ENST00000380716.4_Intron|PSIP1_ENST00000380715.1_Intron|PSIP1_ENST00000380738.4_Intron			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CAAAATTTAGAAAAAAAAAAAT	0.347																																																	0																																										SO:0001627	intron_variant	0			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.977+16TT>-	9.37:g.15472620_15472621delAA			D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	RNA	DEL	-	NULL	ENST00000380733.4	37	NULL	CCDS6479.1	9																																																																																			PSIP1	-	-	ENSG00000164985		0.347	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1		0.00	41	0	AA	NM_033222		15472613	-1	tier1		no_errors	ENST00000495873	ensembl	human	known	74_37	rna	27.03	27	10	DEL	0.001:0.000	-
PSMD1	5707	genome.wustl.edu	37	2	232030597	232030597	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:232030597delA	ENST00000308696.6	+	23	2743	c.2581delA	c.(2581-2583)aaafs	p.K862fs	PSMD1_ENST00000409643.1_Frame_Shift_Del_p.K831fs|PSMD1_ENST00000373635.4_Frame_Shift_Del_p.K831fs	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	862					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGAGGCAGAGAAAAAGGAGGA	0.388																																																	0													34.0	35.0	35.0					2																	232030597		2203	4300	6503	SO:0001589	frameshift_variant	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2581delA	2.37:g.232030597delA	ENSP00000309474:p.Lys862fs		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Frame_Shift_Del	DEL	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.K862fs	ENST00000308696.6	37	c.2581	CCDS2482.1	2																																																																																			PSMD1	-	pirsf_26S_Psome_Rpn2	ENSG00000173692		0.388	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2		0.00	41	0	A			232030597	+1	tier1		no_errors	ENST00000308696	ensembl	human	known	74_37	frame_shift_del	14.29	30	5	DEL	1.000	-
PSME4	23198	genome.wustl.edu	37	2	54093345	54093345	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:54093345delT	ENST00000404125.1	-	46	5468	c.5413delA	c.(5413-5415)accfs	p.T1805fs	PSME4_ENST00000421748.2_Frame_Shift_Del_p.T949fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1805					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGGATAAGGTTTTTTTTACA	0.403																																																	1	Deletion - Frameshift(1)	ovary(1)											204.0	192.0	196.0					2																	54093345		2203	4300	6503	SO:0001589	frameshift_variant	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5413delA	2.37:g.54093345delT	ENSP00000384211:p.Thr1805fs		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Del	DEL	pfam_DUF3437,superfamily_ARM-type_fold	p.T1805fs	ENST00000404125.1	37	c.5413	CCDS33197.2	2																																																																																			PSME4	-	pfam_DUF3437,superfamily_ARM-type_fold	ENSG00000068878		0.403	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1		0.00	52	0	T	XM_040158		54093345	-1	tier1		no_errors	ENST00000404125	ensembl	human	known	74_37	frame_shift_del	18.64	48	11	DEL	1.000	-
PSMF1	9491	genome.wustl.edu	37	20	1145699	1145699	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:1145699C>T	ENST00000335877.6	+	7	967	c.791C>T	c.(790-792)cCg>cTg	p.P264L	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000333082.3_Missense_Mutation_p.P264L|PSMF1_ENST00000246015.4_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	264	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CTCCCCCCGCCGGGCTACGAT	0.572																																																	0													163.0	142.0	149.0					20																	1145699		2203	4300	6503	SO:0001583	missense	0			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.791C>T	20.37:g.1145699C>T	ENSP00000338039:p.Pro264Leu		A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	pfam_FP_dom,pfam_PI31_Prot_Reg	p.P264L	ENST00000335877.6	37	c.791	CCDS13010.1	20	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688057	0.68271	.	.	ENSG00000125818	ENST00000333082;ENST00000454500;ENST00000335877	T;T	0.62639	0.01;0.01	5.41	5.41	0.78517	.	0.122334	0.56097	D	0.000021	T	0.79094	0.4388	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80734	-0.1250	10	0.87932	D	0	-13.9781	16.2153	0.82211	0.0:1.0:0.0:0.0	.	176;264	B4DUJ0;Q92530	.;PSMF1_HUMAN	L	264;158;264	ENSP00000327704:P264L;ENSP00000338039:P264L	ENSP00000327704:P264L	P	+	2	0	PSMF1	1093699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.823000	0.69272	2.815000	0.96918	0.561000	0.74099	CCG	PSMF1	-	NULL	ENSG00000125818		0.572	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	HGNC	protein_coding	OTTHUMT00000077504.2	-	0.00	65	0	C	NM_178578		1145699	+1	tier1	-	no_errors	ENST00000333082	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
PSPH	5723	genome.wustl.edu	37	7	56079283	56079285	+	3'UTR	DEL	AAA	AAA	-	rs71015155		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:56079283_56079285delAAA	ENST00000395471.3	-	0	1653_1655				PSPH_ENST00000275605.3_3'UTR|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACTACAGTTAAAAAAAAAAAAA	0.345																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.*172TTT>-	7.37:g.56079292_56079294delAAA			B2RCR5|Q7Z3S5	RNA	DEL	-	NULL	ENST00000395471.3	37	NULL	CCDS5522.1	7																																																																																			PSPH	-	-	ENSG00000146733		0.345	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1		0.00	23	0	AAA	NM_004577		56079285	-1	tier1		no_errors	ENST00000459834	ensembl	human	known	74_37	rna	26.32	14	5	DEL	0.001:0.001:0.001	-
PTCH1	5727	genome.wustl.edu	37	9	98211549	98211549	+	Frame_Shift_Del	DEL	G	G	-	rs138240178	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:98211549delG	ENST00000331920.6	-	22	3905	c.3606delC	c.(3604-3606)cccfs	p.P1202fs	PTCH1_ENST00000437951.1_Frame_Shift_Del_p.P1136fs|PTCH1_ENST00000421141.1_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000375274.2_Frame_Shift_Del_p.P1201fs|PTCH1_ENST00000429896.2_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000430669.2_Frame_Shift_Del_p.P1136fs|PTCH1_ENST00000418258.1_Frame_Shift_Del_p.P1051fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1202					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S1203fs*52(2)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGACCACGCTGGGGGGTGGCT	0.597																																																	3	Deletion - Frameshift(3)	large_intestine(3)											23.0	28.0	26.0					9																	98211549		2188	4275	6463	SO:0001589	frameshift_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3606delC	9.37:g.98211549delG	ENSP00000332353:p.Pro1202fs		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Del	DEL	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.S1203fs	ENST00000331920.6	37	c.3606	CCDS6714.1	9																																																																																			PTCH1	-	tigrfam_TM_rcpt_patched	ENSG00000185920		0.597	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0.00	76	0	G	NM_000264		98211549	-1	tier1		no_errors	ENST00000331920	ensembl	human	known	74_37	frame_shift_del	17.39	57	12	DEL	0.012	-
PTCH1	5727	genome.wustl.edu	37	9	98244509	98244509	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:98244509delA	ENST00000331920.6	-	4	884				PTCH1_ENST00000437951.1_Intron|PTCH1_ENST00000421141.1_Intron|PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000429896.2_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000548379.1_Intron|PTCH1_ENST00000430669.2_Intron|PTCH1_ENST00000418258.1_Intron	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1						brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCAGAGACAAAAATTTCTC	0.318																																																	0													44.0	44.0	44.0					9																	98244509		2202	4300	6502	SO:0001627	intron_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.585-24T>-	9.37:g.98244509delA			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Del	DEL	NULL	p.L48fs	ENST00000331920.6	37	c.143	CCDS6714.1	9																																																																																			PTCH1	-	NULL	ENSG00000185920		0.318	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0.00	40	0	A	NM_000264		98244509	-1	tier1		no_errors	ENST00000550914	ensembl	human	known	74_37	frame_shift_del	10.71	25	3	DEL	0.653	-
PTEN	5728	genome.wustl.edu	37	10	89720738	89720738	+	Missense_Mutation	SNP	G	G	A	rs267602610|rs370064195		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:89720738G>A	ENST00000371953.3	+	8	2246	c.889G>A	c.(889-891)Gat>Aat	p.D297N	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	297	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGTCTATGTGATCAAGAAAT	0.318		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	50	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											87.0	87.0	87.0					10																	89720738		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.889G>A	10.37:g.89720738G>A	ENSP00000361021:p.Asp297Asn		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D297N	ENST00000371953.3	37	c.889	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538395	0.45176	.	.	ENSG00000171862	ENST00000371953	D	0.94330	-3.4	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.174563	0.50627	D	0.000108	D	0.84329	0.5448	N	0.03608	-0.345	0.43841	D	0.99642	B	0.10296	0.003	B	0.10450	0.005	T	0.79531	-0.1765	9	.	.	.	-12.1043	18.5632	0.91108	0.0:0.0:1.0:0.0	.	297	P60484	PTEN_HUMAN	N	297	ENSP00000361021:D297N	.	D	+	1	0	PTEN	89710718	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.179000	0.71974	2.399000	0.81585	0.591000	0.81541	GAT	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.318	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	-	0.00	52	0	G	NM_000314		89720738	+1	tier1	-	no_errors	ENST00000371953	ensembl	human	known	74_37	missense	19.64	45	11	SNP	1.000	A
PTENP1	11191	genome.wustl.edu	37	9	33674344	33674346	+	RNA	DEL	TTT	TTT	-	rs76928302|rs200594180		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:33674344_33674346delTTT	ENST00000532280.1	-	0	3151_3153					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TTCTATGTTCTTTTTTTTTTTTT	0.271																																																	0																																												0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33674353_33674355delTTT				RNA	DEL	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.271	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1		0.00	17	0	TTT	NR_023917		33674346	-1	tier1		no_errors	ENST00000532280	ensembl	human	known	74_37	rna	29.41	12	5	DEL	0.837:0.842:0.847	-
PTENP1	11191	genome.wustl.edu	37	9	33676993	33676993	+	RNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:33676993C>T	ENST00000532280.1	-	0	504					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		AAAACCGGCCCGGGTCCCTCC	0.706																																																	0																																												0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676993C>T				RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.706	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	-	0.00	11	0	C	NR_023917		33676993	-1	tier1	-	no_errors	ENST00000532280	ensembl	human	known	74_37	rna	38.46	8	5	SNP	0.070	T
PTF1A	256297	genome.wustl.edu	37	10	23481496	23481496	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:23481496C>A	ENST00000376504.3	+	1	241	c.37C>A	c.(37-39)Cta>Ata	p.L13I		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	13					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCCCGGGGGCCTAGACGCCTT	0.637																																																	0													61.0	57.0	58.0					10																	23481496		2203	4300	6503	SO:0001583	missense	0			BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.37C>A	10.37:g.23481496C>A	ENSP00000365687:p.Leu13Ile		Q9HC25	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L13I	ENST00000376504.3	37	c.37	CCDS7143.1	10	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285286	0.59867	.	.	ENSG00000168267	ENST00000376504	D	0.97959	-4.63	2.96	2.96	0.34315	.	0.000000	0.56097	U	0.000027	D	0.97213	0.9089	L	0.29908	0.895	0.36659	D	0.877848	D	0.63880	0.993	D	0.73708	0.981	D	0.99544	1.0964	10	0.87932	D	0	-1.1716	13.6355	0.62221	0.0:1.0:0.0:0.0	.	13	Q7RTS3	PTF1A_HUMAN	I	13	ENSP00000365687:L13I	ENSP00000365687:L13I	L	+	1	2	PTF1A	23521502	0.985000	0.35326	1.000000	0.80357	0.540000	0.34992	2.616000	0.46376	1.490000	0.48466	0.313000	0.20887	CTA	PTF1A	-	NULL	ENSG00000168267		0.637	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTF1A	HGNC	protein_coding	OTTHUMT00000047210.1	-	0.00	49	0	C	NM_178161		23481496	+1	tier1	-	no_errors	ENST00000376504	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	A
PTN	5764	genome.wustl.edu	37	7	136938294	136938294	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:136938294C>T	ENST00000348225.2	-	3	633	c.206G>A	c.(205-207)gGc>gAc	p.G69D	PTN_ENST00000393083.2_Missense_Mutation_p.G69D	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	69					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						AGTCCGAGTGCCCTCCCGTGT	0.517																																																	0													113.0	94.0	101.0					7																	136938294		2203	4300	6503	SO:0001583	missense	0			M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.206G>A	7.37:g.136938294C>T	ENSP00000341170:p.Gly69Asp		Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF	p.G69D	ENST00000348225.2	37	c.206	CCDS5844.1	7	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883676	0.91740	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.41	5.41	0.78517	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, conserved site (1);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.78419	0.4280	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80056	-0.1542	9	0.87932	D	0	-14.9339	19.2046	0.93724	0.0:1.0:0.0:0.0	.	69;69	C9JR52;P21246	.;PTN_HUMAN	D	69	.	ENSP00000341170:G69D	G	-	2	0	PTN	136588834	1.000000	0.71417	0.999000	0.59377	0.733000	0.41908	7.764000	0.85297	2.548000	0.85928	0.585000	0.79938	GGC	PTN	-	pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF	ENSG00000105894		0.517	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTN	HGNC	protein_coding	OTTHUMT00000341339.1		0.00	25	0	C	NM_002825		136938294	-1			no_errors	ENST00000348225	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T
PTOV1	53635	genome.wustl.edu	37	19	50363527	50363527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50363527delG	ENST00000601675.1	+	12	1346	c.1242delG	c.(1240-1242)atgfs	p.M414fs	AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000391842.1_Frame_Shift_Del_p.M414fs|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000599732.1_Frame_Shift_Del_p.M414fs|PTOV1_ENST00000600603.1_Frame_Shift_Del_p.W359fs|PTOV1_ENST00000601638.1_Frame_Shift_Del_p.M382fs|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000221557.9_Frame_Shift_Del_p.W359fs|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000598325.1_3'UTR			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	414	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.*417fs?(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGCCGTAGATGGGGGGGTAGT	0.657																																																	1	Deletion - Frameshift(1)	large_intestine(1)											24.0	26.0	25.0					19																	50363527		2203	4300	6503	SO:0001589	frameshift_variant	0			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.1242delG	19.37:g.50363527delG	ENSP00000472816:p.Met414fs		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Frame_Shift_Del	DEL	pfam_Mediator_Med25	p.*417fs	ENST00000601675.1	37	c.1242	CCDS12782.1	19																																																																																			PTOV1	-	NULL	ENSG00000104960		0.657	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PTOV1	HGNC	protein_coding	OTTHUMT00000465347.1		0.00	78	0	G	NM_017432		50363527	+1	tier1		no_errors	ENST00000391842	ensembl	human	known	74_37	frame_shift_del	39.73	44	29	DEL	1.000	-
PTPLAD1	51495	genome.wustl.edu	37	15	65868695	65868695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:65868695delA	ENST00000261875.5	+	11	1233	c.1067delA	c.(1066-1068)caafs	p.Q356fs	PTPLAD1_ENST00000566511.1_Frame_Shift_Del_p.Q239fs|PTPLAD1_ENST00000568793.1_Frame_Shift_Del_p.Q331fs|PTPLAD1_ENST00000565299.1_Frame_Shift_Del_p.Q394fs|PTPLAD1_ENST00000569894.1_Frame_Shift_Del_p.Q239fs|PTPLAD1_ENST00000566074.1_Frame_Shift_Del_p.Q239fs|PTPLAD1_ENST00000561763.1_3'UTR|PTPLAD1_ENST00000562901.1_Frame_Shift_Del_p.Q239fs|PTPLAD1_ENST00000442729.2_Frame_Shift_Del_p.Q301fs	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	356				RRYGQKKKKIH -> LKMRAGAVAHACDPSALGG (in Ref. 1; CAB69070). {ECO:0000305}.	activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGCTATGGACAAAAAAAGAAA	0.333																																																	0													30.0	27.0	28.0					15																	65868695		1792	4067	5859	SO:0001589	frameshift_variant	0				CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.1067delA	15.37:g.65868695delA	ENSP00000261875:p.Gln356fs		A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Frame_Shift_Del	DEL	pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.K358fs	ENST00000261875.5	37	c.1067	CCDS45282.1	15																																																																																			PTPLAD1	-	NULL	ENSG00000074696		0.333	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLAD1	HGNC	protein_coding	OTTHUMT00000419739.1		0.00	41	0	A	NM_016395		65868695	+1	tier1		no_errors	ENST00000261875	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	1.000	-
PTPLAD1	51495	genome.wustl.edu	37	15	65868701	65868702	+	Missense_Mutation	DNP	AG	AG	GA			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A|G	A|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:65868701_65868702AG>GA	ENST00000261875.5	+	11	1239_1240	c.1073_1074AG>GA	c.(1072-1074)aAG>aGA	p.K358R	PTPLAD1_ENST00000566511.1_Missense_Mutation_p.K241R|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.K333R|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.K396R|PTPLAD1_ENST00000569894.1_Missense_Mutation_p.K241R|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.K241R|PTPLAD1_ENST00000561763.1_3'UTR|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.K241R|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.K303R	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	358	Poly-Lys.			RRYGQKKKKIH -> LKMRAGAVAHACDPSALGG (in Ref. 1; CAB69070). {ECO:0000305}.	activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GGACAAAAAAAGAAAAAGATCC	0.332																																																	0																																										SO:0001583	missense	0				CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		Exception_encountered	15.37:g.65868701_65868702delinsGA	ENSP00000261875:p.Lys358Arg		A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Missense_Mutation|Silent	SNP	pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.K358R|p.K358	ENST00000261875.5	37	c.1073|c.1074	CCDS45282.1	15																																																																																			PTPLAD1	-	NULL	ENSG00000074696		0.332	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLAD1	HGNC	protein_coding	OTTHUMT00000419739.1		0.00	39	0	A|G	NM_016395		65868701|65868702	+1			no_errors	ENST00000261875	ensembl	human	known	74_37	missense|silent	13.16|13.51	33|32	5	SNP	1.000	G|A
PTPN21	11099	genome.wustl.edu	37	14	89016861	89016861	+	5'UTR	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:89016861A>G	ENST00000556564.1	-	0	185				RP11-507K2.3_ENST00000556328.1_RNA|PTPN21_ENST00000328736.3_5'UTR|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCGGATGGGACGAACACTGT	0.582																																																	0																																										SO:0001623	5_prime_UTR_variant	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.-100T>C	14.37:g.89016861A>G				RNA	SNP	-	NULL	ENST00000556564.1	37	NULL	CCDS9884.1	14																																																																																			PTPN21	-	-	ENSG00000070778		0.582	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0.00	57	0	A			89016861	-1	tier1	-	no_errors	ENST00000554628	ensembl	human	known	74_37	rna	15.71	59	11	SNP	0.000	G
PTPRA	5786	genome.wustl.edu	37	20	3001962	3001962	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:3001962G>A	ENST00000216877.6	+	13	1422	c.1022G>A	c.(1021-1023)tGc>tAc	p.C341Y	PTPRA_ENST00000318266.5_Missense_Mutation_p.C341Y|PTPRA_ENST00000358719.4_Missense_Mutation_p.C206Y|PTPRA_ENST00000380393.3_Missense_Mutation_p.C350Y|PTPRA_ENST00000425918.2_Missense_Mutation_p.C361Y|PTPRA_ENST00000399903.2_Missense_Mutation_p.C350Y|PTPRA_ENST00000356147.3_Missense_Mutation_p.C341Y	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	350	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGTGCAAGTGCGCCCAGTAC	0.532																																																	0													187.0	157.0	168.0					20																	3001962		2203	4300	6503	SO:0001583	missense	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1022G>A	20.37:g.3001962G>A	ENSP00000216877:p.Cys341Tyr		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.C361Y	ENST00000216877.6	37	c.1082	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359192	0.82353	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36	4.68	4.68	0.58851	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.079938	0.64402	U	0.000002	T	0.58250	0.2109	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.945;0.994	T	0.74717	-0.3571	10	0.87932	D	0	.	18.1483	0.89665	0.0:0.0:1.0:0.0	.	361;350;341	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	Y	350;341;350;206;361;341;341	ENSP00000369756:C350Y;ENSP00000216877:C341Y;ENSP00000382787:C350Y;ENSP00000351559:C206Y;ENSP00000393553:C361Y;ENSP00000314568:C341Y;ENSP00000348468:C341Y	ENSP00000216877:C341Y	C	+	2	0	PTPRA	2949962	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.657000	0.98554	2.584000	0.87258	0.563000	0.77884	TGC	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132670		0.532	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	-	0.00	82	0	G			3001962	+1	tier1	-	no_errors	ENST00000425918	ensembl	human	known	74_37	missense	10.17	53	6	SNP	1.000	A
PTPRC	5788	genome.wustl.edu	37	1	198697519	198697519	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:198697519T>C	ENST00000367376.2	+	16	1936	c.1765T>C	c.(1765-1767)Tca>Cca	p.S589P	PTPRC_ENST00000348564.6_Missense_Mutation_p.S430P|PTPRC_ENST00000352140.3_Missense_Mutation_p.S541P|PTPRC_ENST00000594404.1_Missense_Mutation_p.S428P|PTPRC_ENST00000442510.2_Missense_Mutation_p.S591P	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	589					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TATTGTGACATCAATAGCCCT	0.294																																																	0													124.0	130.0	128.0					1																	198697519		2203	4299	6502	SO:0001583	missense	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1765T>C	1.37:g.198697519T>C	ENSP00000356346:p.Ser589Pro		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S591P	ENST00000367376.2	37	c.1771		1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473895	0.43942	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.03272	3.99	5.47	4.33	0.51752	.	0.415744	0.18172	N	0.149435	T	0.06188	0.0160	M	0.76328	2.33	0.47123	D	0.999327	B;B;B;B;B	0.33238	0.154;0.403;0.092;0.092;0.092	B;B;B;B;B	0.31547	0.132;0.132;0.06;0.06;0.06	T	0.14924	-1.0455	10	0.46703	T	0.11	.	7.7684	0.28993	0.1374:0.0:0.1438:0.7188	.	525;525;430;541;589	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	P	591;525;541;541;475;589;523;428	ENSP00000193532:S541P	ENSP00000306782:S428P	S	+	1	0	PTPRC	196964142	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	1.564000	0.36375	0.873000	0.35799	-0.420000	0.06012	TCA	PTPRC	-	pirsf_Leukocyte_common_ag	ENSG00000081237		0.294	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		-	0.00	91	0	T			198697519	+1	tier1	-	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	27.88	75	29	SNP	1.000	C
PTPRH	5794	genome.wustl.edu	37	19	55697597	55697597	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:55697597C>T	ENST00000376350.3	-	16	2796	c.2774G>A	c.(2773-2775)gGc>gAc	p.G925D	PTPRH_ENST00000263434.5_Missense_Mutation_p.G747D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	925	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTCACCCGGCCGGCCTCCAT	0.627																																																	0													42.0	42.0	42.0					19																	55697597		2203	4300	6503	SO:0001583	missense	0				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2774G>A	19.37:g.55697597C>T	ENSP00000365528:p.Gly925Asp		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G925D	ENST00000376350.3	37	c.2774	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	16.37	3.102949	0.56183	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.14516	2.5;2.5	4.97	3.93	0.45458	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.36200	N	0.002723	T	0.38241	0.1033	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.39143	-0.9628	10	0.87932	D	0	.	14.7441	0.69477	0.0:0.8541:0.1459:0.0	.	747;925	C9JCH2;Q9HD43	.;PTPRH_HUMAN	D	925;747	ENSP00000365528:G925D;ENSP00000263434:G747D	ENSP00000263434:G747D	G	-	2	0	PTPRH	60389409	0.874000	0.30092	0.111000	0.21465	0.166000	0.22503	3.550000	0.53691	1.256000	0.44068	0.650000	0.86243	GGC	PTPRH	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000080031		0.627	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	-	0.00	64	0	C			55697597	-1	tier1	-	no_errors	ENST00000376350	ensembl	human	known	74_37	missense	20.34	47	12	SNP	0.976	T
PTPRK	5796	genome.wustl.edu	37	6	128321225	128321225	+	Intron	DEL	A	A	-	rs202179145|rs78615852	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:128321225delA	ENST00000368215.3	-	16	2491				PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000368226.4_Intron|PTPRK_ENST00000368213.5_Intron|PTPRK_ENST00000368227.3_Intron|PTPRK_ENST00000532331.1_Intron|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Intron			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTTACCACTTAAAAAAAAAAA	0.299													|||unknown(HR)	242	0.0483227	0.0303	0.0245	5008	,	,		17261	0.0714		0.0328	False		,,,				2504	0.0818																0																																										SO:0001627	intron_variant	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2492-1176T>-	6.37:g.128321225delA			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	RNA	DEL	-	NULL	ENST00000368215.3	37	NULL		6																																																																																			PTPRK	-	-	ENSG00000152894		0.299	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1		0.00	11	0	A			128321225	-1	tier1		no_errors	ENST00000524481	ensembl	human	known	74_37	rna	38.89	11	7	DEL	0.625	-
PTPRM	5797	genome.wustl.edu	37	18	7955190	7955190	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:7955190G>A	ENST00000332175.8	+	7	1947	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	PTPRM_ENST00000400053.4_Missense_Mutation_p.A242T|PTPRM_ENST00000444013.1_Missense_Mutation_p.A91T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A304T|PTPRM_ENST00000580170.1_Missense_Mutation_p.A304T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	304	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACAGCTCAACGCCAACTCCAT	0.577																																																	0													60.0	57.0	58.0					18																	7955190		2203	4300	6503	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.910G>A	18.37:g.7955190G>A	ENSP00000331418:p.Ala304Thr		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A304T	ENST00000332175.8	37	c.910	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219586	0.58560	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051382	0.85682	D	0.000000	T	0.35828	0.0945	N	0.10733	0.035	0.54753	D	0.999989	B;B;B	0.23937	0.094;0.057;0.057	B;B;B	0.25614	0.062;0.022;0.022	T	0.28170	-1.0052	10	0.10377	T	0.69	.	13.7	0.62602	0.07:0.0:0.93:0.0	.	91;304;304	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	304;304;242;91	ENSP00000331418:A304T;ENSP00000382933:A304T;ENSP00000382927:A242T;ENSP00000387608:A91T	ENSP00000331418:A304T	A	+	1	0	PTPRM	7945190	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	8.061000	0.89467	2.865000	0.98341	0.655000	0.94253	GCC	PTPRM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000173482		0.577	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0.00	32	0	G			7955190	+1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	A
PTPRN	5798	genome.wustl.edu	37	2	220161986	220161986	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:220161986T>C	ENST00000295718.2	-	14	2297	c.2057A>G	c.(2056-2058)aAc>aGc	p.N686S	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Missense_Mutation_p.N596S|PTPRN_ENST00000409251.3_Missense_Mutation_p.N657S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	686					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGTCCATGTTGGCTTGGGC	0.652																																																	0													60.0	52.0	54.0					2																	220161986		2203	4300	6503	SO:0001583	missense	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2057A>G	2.37:g.220161986T>C	ENSP00000295718:p.Asn686Ser		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.N686S	ENST00000295718.2	37	c.2057	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993432	0.74703	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.12774	2.65;2.65;2.65	4.28	4.28	0.50868	.	0.120882	0.56097	D	0.000035	T	0.30448	0.0765	L	0.56124	1.755	0.58432	D	0.999999	D;P	0.71674	0.998;0.855	D;P	0.72625	0.978;0.574	T	0.01720	-1.1288	10	0.46703	T	0.11	.	13.2708	0.60159	0.0:0.0:0.0:1.0	.	657;686	Q6NSL1;Q16849	.;PTPRN_HUMAN	S	657;686;657;596	ENSP00000386638:N657S;ENSP00000295718:N686S;ENSP00000444244:N596S	ENSP00000295718:N686S	N	-	2	0	PTPRN	219870230	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.594000	0.67557	1.800000	0.52685	0.459000	0.35465	AAC	PTPRN	-	NULL	ENSG00000054356		0.652	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	-	0.00	73	0	T			220161986	-1	tier1	-	no_errors	ENST00000295718	ensembl	human	known	74_37	missense	13.64	57	9	SNP	1.000	C
PTPRVP	148713	genome.wustl.edu	37	1	202140354	202140354	+	RNA	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:202140354G>T	ENST00000482597.1	+	0	1085					NR_002930.2				protein tyrosine phosphatase, receptor type, V, pseudogene																		TCCCCTGCCCGCCAAGCTCTG	0.542																																																	0																																												0			AJ629456		1q32.1	2013-09-26	2010-03-16	2010-03-16	ENSG00000243323	ENSG00000243323		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	13421	pseudogene	pseudogene				PTPRV		15358244	Standard	NR_002930		Approved	OST-PTP, ESP	uc009xaa.2		OTTHUMG00000040524		1.37:g.202140354G>T				RNA	SNP	-	NULL	ENST00000482597.1	37	NULL		1																																																																																			PTPRVP	-	-	ENSG00000243323		0.542	PTPRVP-003	KNOWN	basic	processed_transcript	PTPRVP	HGNC	pseudogene	OTTHUMT00000334021.1	-	0.00	51	0	G	XM_086287		202140354	+1	tier1	-	no_errors	ENST00000482597	ensembl	human	known	74_37	rna	7.41	50	4	SNP	0.003	T
PXDN	7837	genome.wustl.edu	37	2	1652402	1652402	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:1652402G>A	ENST00000252804.4	-	17	3200	c.3150C>T	c.(3148-3150)taC>taT	p.Y1050Y		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1050					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGTAGCCGTGGTACTCTCCCA	0.617																																																	0													51.0	58.0	56.0					2																	1652402		2192	4286	6478	SO:0001819	synonymous_variant	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3150C>T	2.37:g.1652402G>A			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.Y1050	ENST00000252804.4	37	c.3150	CCDS46221.1	2																																																																																			PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000130508		0.617	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0.00	29	0	G	XM_056455		1652402	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.676	A
PXDN	7837	genome.wustl.edu	37	2	1677547	1677547	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:1677547A>G	ENST00000252804.4	-	9	936	c.886T>C	c.(886-888)Ttg>Ctg	p.L296L	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	296	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCGTCCAGCAAGTTTAGGCGG	0.502																																																	0													135.0	136.0	136.0					2																	1677547		2054	4205	6259	SO:0001819	synonymous_variant	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.886T>C	2.37:g.1677547A>G			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.L296	ENST00000252804.4	37	c.886	CCDS46221.1	2																																																																																			PXDN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000130508		0.502	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0.00	55	0	A	XM_056455		1677547	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	silent	29.27	29	12	SNP	0.617	G
PXDN	7837	genome.wustl.edu	37	2	1680771	1680771	+	Missense_Mutation	SNP	G	G	A	rs375938992		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:1680771G>A	ENST00000252804.4	-	8	826	c.776C>T	c.(775-777)tCg>tTg	p.S259L	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	259	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTGTTCCCCGAGGTCACATC	0.532																																																	0								G	LEU/SER	1,3941		0,1,1970	60.0	67.0	65.0		776	2.9	0.0	2		65	0,8308		0,0,4154	no	missense	PXDN	NM_012293.1	145	0,1,6124	AA,AG,GG		0.0,0.0254,0.0082	benign	259/1480	1680771	1,12249	1971	4154	6125	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.776C>T	2.37:g.1680771G>A	ENSP00000252804:p.Ser259Leu		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.S259L	ENST00000252804.4	37	c.776	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.758|6.758	0.508688|0.508688	0.12883|0.12883	2.54E-4|2.54E-4	0.0|0.0	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.37058	.|1.22	4.77|4.77	2.9|2.9	0.33743|0.33743	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.365309	.|0.26038	.|N	.|0.026718	T|T	0.16085|0.16085	0.0387|0.0387	N|N	0.10837|0.10837	0.055|0.055	0.35092|0.35092	D|D	0.764389|0.764389	.|B;B	.|0.16603	.|0.003;0.018	.|B;B	.|0.17979	.|0.002;0.02	T|T	0.17077|0.17077	-1.0381|-1.0381	5|10	.|0.10636	.|T	.|0.68	-4.5439|-4.5439	7.6146|7.6146	0.28150|0.28150	0.2683:0.0:0.7317:0.0|0.2683:0.0:0.7317:0.0	.|.	.|259;259	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	W|L	255|259	.|ENSP00000252804:S259L	.|ENSP00000252804:S259L	R|S	-|-	1|2	2|0	PXDN|PXDN	1659778|1659778	0.998000|0.998000	0.40836|0.40836	0.016000|0.016000	0.15963|0.15963	0.699000|0.699000	0.40488|0.40488	2.961000|2.961000	0.49168|0.49168	0.969000|0.969000	0.38237|0.38237	0.449000|0.449000	0.29647|0.29647	CGG|TCG	PXDN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000130508		0.532	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0.00	44	0	G	XM_056455		1680771	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	36.59	26	15	SNP	0.921	A
PYCR1	5831	genome.wustl.edu	37	17	79892835	79892835	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:79892835G>A	ENST00000329875.8	-	4	571	c.507C>T	c.(505-507)gcC>gcT	p.A169A	PYCR1_ENST00000403172.4_Silent_p.A169A|PYCR1_ENST00000337943.5_Silent_p.A169A|PYCR1_ENST00000577756.1_Silent_p.A169A|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000402252.2_Silent_p.A196A	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	169					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	GCCCCGTGACGGCATCAATCA	0.692																																																	0													45.0	39.0	41.0					17																	79892835		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.507C>T	17.37:g.79892835G>A			A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Silent	SNP	pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.A169	ENST00000329875.8	37	c.507	CCDS11795.1	17																																																																																			PYCR1	-	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	ENSG00000183010		0.692	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCR1	HGNC	protein_coding	OTTHUMT00000441953.1	-	0.00	73	0	G			79892835	-1	tier1	-	no_errors	ENST00000329875	ensembl	human	known	74_37	silent	13.56	51	8	SNP	0.877	A
PYROXD1	79912	genome.wustl.edu	37	12	21608074	21608074	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:21608074T>A	ENST00000240651.9	+	6	551	c.497T>A	c.(496-498)aTt>aAt	p.I166N	PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000538582.1_Missense_Mutation_p.I95N	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	166							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AGGTATGAAATTGAAGGCTGT	0.338																																																	0													59.0	63.0	62.0					12																	21608074		2203	4300	6503	SO:0001583	missense	0			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.497T>A	12.37:g.21608074T>A	ENSP00000240651:p.Ile166Asn		A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase	p.I166N	ENST00000240651.9	37	c.497	CCDS31755.1	12	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905017	0.72868	.	.	ENSG00000121350	ENST00000240651;ENST00000538582	.	.	.	5.32	5.32	0.75619	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.283827	0.41938	D	0.000800	T	0.76919	0.4055	M	0.71206	2.165	0.80722	D	1	D	0.56746	0.977	D	0.67382	0.951	T	0.79130	-0.1930	9	0.59425	D	0.04	.	14.773	0.69693	0.0:0.0:0.0:1.0	.	166	Q8WU10	PYRD1_HUMAN	N	166;95	.	ENSP00000240651:I166N	I	+	2	0	PYROXD1	21499341	1.000000	0.71417	0.999000	0.59377	0.766000	0.43426	6.908000	0.75730	2.137000	0.66172	0.528000	0.53228	ATT	PYROXD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000121350		0.338	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD1	HGNC	protein_coding	OTTHUMT00000402363.1	-	0.00	40	0	T	NM_024854		21608074	+1	tier1	-	no_errors	ENST00000240651	ensembl	human	known	74_37	missense	19.44	28	7	SNP	1.000	A
QKI	9444	genome.wustl.edu	37	6	163899920	163899920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:163899920delA	ENST00000361752.3	+	3	945	c.394delA	c.(394-396)aaafs	p.K134fs	QKI_ENST00000453779.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000361195.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000392127.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000424802.3_Frame_Shift_Del_p.K134fs|QKI_ENST00000275262.7_Frame_Shift_Del_p.K134fs	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	134	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K134fs*14(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AATGAGGGATAAAAAAAAGGT	0.363																																																	1	Deletion - Frameshift(1)	large_intestine(1)											79.0	80.0	80.0					6																	163899920		2203	4300	6503	SO:0001589	frameshift_variant	0			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.394delA	6.37:g.163899920delA	ENSP00000355094:p.Lys134fs		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,smart_KH_dom	p.K134fs	ENST00000361752.3	37	c.394	CCDS5285.1	6																																																																																			QKI	-	smart_KH_dom	ENSG00000112531		0.363	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QKI	HGNC	protein_coding	OTTHUMT00000043016.2		0.00	66	0	A	NM_006775		163899920	+1	tier1		no_errors	ENST00000361752	ensembl	human	known	74_37	frame_shift_del	16.67	65	13	DEL	1.000	-
RAB11FIP1	80223	genome.wustl.edu	37	8	37728987	37728987	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:37728987G>T	ENST00000330843.4	-	4	3345	c.3333C>A	c.(3331-3333)ccC>ccA	p.P1111P	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1111					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTGCAGAGCTGGGGAAAGAGT	0.532											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													187.0	190.0	189.0					8																	37728987		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3333C>A	8.37:g.37728987G>T		872	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P1111	ENST00000330843.4	37	c.3333	CCDS34882.1	8																																																																																			RAB11FIP1	-	NULL	ENSG00000156675		0.532	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	-	0.00	52	0	G	NM_025151		37728987	-1	tier1	-	no_errors	ENST00000330843	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.000	T
RAB11FIP2	22841	genome.wustl.edu	37	10	119768615	119768615	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:119768615T>C	ENST00000355624.3	-	5	1872	c.1433A>G	c.(1432-1434)gAg>gGg	p.E478G	RAB11FIP2_ENST00000476207.1_5'UTR|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E498G	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	478	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.|Necessary for the interaction with AP2A1, RAB11A, subcellular location, endocytosis activity and homooligomerization.				establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GATGTAGTCCTCGAGTTCCCG	0.483																																																	0													190.0	185.0	187.0					10																	119768615		2203	4300	6503	SO:0001583	missense	0			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1433A>G	10.37:g.119768615T>C	ENSP00000347839:p.Glu478Gly		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.E498G	ENST00000355624.3	37	c.1493	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	T	26.2	4.717468	0.89205	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;D	0.81821	-1.48;-1.54	5.16	5.16	0.70880	Rab-binding domain FIP-RBD (2);	0.048027	0.85682	D	0.000000	D	0.89118	0.6624	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90533	0.4497	10	0.87932	D	0	-7.7312	15.2742	0.73728	0.0:0.0:0.0:1.0	.	498;478	Q3I768;Q7L804	.;RFIP2_HUMAN	G	478;498	ENSP00000347839:E478G;ENSP00000358200:E498G	ENSP00000347839:E478G	E	-	2	0	RAB11FIP2	119758605	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	7.594000	0.82698	2.067000	0.61834	0.482000	0.46254	GAG	RAB11FIP2	-	pfam_Rab-bd_FIP-RBD	ENSG00000107560		0.483	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	-	0.00	44	0	T	NM_014904		119768615	-1	tier1	-	no_errors	ENST00000369199	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	C
RAB13	5872	genome.wustl.edu	37	1	153954703	153954703	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:153954703G>A	ENST00000368575.3	-	8	650				RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTTAGGGTAGGAGGGTATAA	0.458																																					Ovarian(138;395 2427 24306 43415)												0													102.0	95.0	97.0					1																	153954703		2203	4300	6503	SO:0001627	intron_variant	0			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.535-51C>T	1.37:g.153954703G>A			A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	RNA	SNP	-	NULL	ENST00000368575.3	37	NULL	CCDS1058.1	1																																																																																			RAB13	-	-	ENSG00000143545		0.458	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	-	0.00	61	0	G	NM_002870		153954703	-1	tier1	-	no_errors	ENST00000462680	ensembl	human	known	74_37	rna	8.06	57	5	SNP	0.000	A
RAB20	55647	genome.wustl.edu	37	13	111176254	111176254	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:111176254C>T	ENST00000267328.3	-	2	676	c.463G>A	c.(463-465)Gtg>Atg	p.V155M		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	155					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			TAAAGGGCCACCGCATCCTCC	0.582																																																	0													67.0	64.0	65.0					13																	111176254		2203	4300	6503	SO:0001583	missense	0			AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.463G>A	13.37:g.111176254C>T	ENSP00000267328:p.Val155Met		Q5T9X5|Q9NX49	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V155M	ENST00000267328.3	37	c.463	CCDS9512.1	13	.	.	.	.	.	.	.	.	.	.	C	2.813	-0.246625	0.05867	.	.	ENSG00000139832	ENST00000267328	T	0.74209	-0.82	5.09	0.237	0.15475	.	0.802333	0.11894	N	0.519330	T	0.52996	0.1769	N	0.05554	-0.025	0.19300	N	0.999975	B	0.25206	0.12	B	0.23852	0.049	T	0.42396	-0.9454	10	0.46703	T	0.11	-26.1862	10.2511	0.43370	0.0:0.4122:0.0:0.5878	.	155	Q9NX57	RAB20_HUMAN	M	155	ENSP00000267328:V155M	ENSP00000267328:V155M	V	-	1	0	RAB20	109974255	0.000000	0.05858	0.063000	0.19743	0.069000	0.16628	-0.274000	0.08537	-0.051000	0.13334	-0.258000	0.10820	GTG	RAB20	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho	ENSG00000139832		0.582	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB20	HGNC	protein_coding	OTTHUMT00000045760.2	-	0.00	43	0	C	NM_017817		111176254	-1	tier1	-	no_errors	ENST00000267328	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.014	T
RAB35	11021	genome.wustl.edu	37	12	120534289	120534289	+	3'UTR	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:120534289G>A	ENST00000229340.5	-	0	1554				RAB35_ENST00000432953.2_Missense_Mutation_p.S254F|RAB35_ENST00000543364.1_5'Flank	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family						antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CTTTCTGTTGGAACTGAAACC	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.*760C>T	12.37:g.120534289G>A			B2R6E0|B4E390	Missense_Mutation	SNP	NULL	p.S254F	ENST00000229340.5	37	c.761	CCDS41846.1	12	.	.	.	.	.	.	.	.	.	.	G	7.908	0.735928	0.15574	.	.	ENSG00000111737	ENST00000432953	.	.	.	5.24	2.28	0.28536	.	.	.	.	.	T	0.32285	0.0824	.	.	.	0.09310	N	1	B	0.24882	0.113	B	0.25405	0.06	T	0.30707	-0.9969	7	0.87932	D	0	.	7.5162	0.27602	0.0883:0.3162:0.5955:0.0	.	254	G5E9K9	.	F	254	.	ENSP00000399317:S254F	S	-	2	0	RAB35	119018672	0.384000	0.25164	0.031000	0.17742	0.172000	0.22775	1.523000	0.35932	0.592000	0.29728	0.655000	0.94253	TCC	RAB35	-	NULL	ENSG00000111737		0.502	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB35	HGNC	protein_coding	OTTHUMT00000402599.2		0.00	39	0	G			120534289	-1			no_errors	ENST00000432953	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.024	A
RAB3B	5865	genome.wustl.edu	37	1	52385688	52385688	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:52385688G>T	ENST00000371655.3	-	5	783	c.571C>A	c.(571-573)Ctg>Atg	p.L191M		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	191					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						TCTGTGTCCAGCGAATCAGAC	0.557																																																	0													137.0	112.0	120.0					1																	52385688		2203	4300	6503	SO:0001583	missense	0			BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"""RAB, member RAS oncogene"""	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.571C>A	1.37:g.52385688G>T	ENSP00000360718:p.Leu191Met		Q5VUL2|Q9BSI1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L191M	ENST00000371655.3	37	c.571	CCDS560.1	1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712042	0.30322	.	.	ENSG00000169213	ENST00000371655;ENST00000537650	T	0.80214	-1.35	5.49	1.27	0.21489	.	0.346149	0.27327	N	0.019862	T	0.69602	0.3129	L	0.41492	1.28	0.28789	N	0.899427	B	0.15719	0.014	B	0.17979	0.02	T	0.62091	-0.6927	10	0.49607	T	0.09	.	8.1591	0.31187	0.0745:0.0:0.5216:0.4039	.	191	P20337	RAB3B_HUMAN	M	191	ENSP00000360718:L191M	ENSP00000360718:L191M	L	-	1	2	RAB3B	52158276	0.004000	0.15560	0.787000	0.31911	0.863000	0.49368	-0.029000	0.12329	0.381000	0.24851	-0.164000	0.13417	CTG	RAB3B	-	superfamily_P-loop_NTPase,smart_Ran_GTPase	ENSG00000169213		0.557	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3B	HGNC	protein_coding	OTTHUMT00000023816.1	-	0.00	32	0	G	NM_002867		52385688	-1	tier1	-	no_errors	ENST00000371655	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.158	T
RABEPK	10244	genome.wustl.edu	37	9	127990265	127990265	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:127990265A>G	ENST00000373538.3	+	6	913	c.603A>G	c.(601-603)gcA>gcG	p.A201A	RABEPK_ENST00000394125.4_Silent_p.A201A|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Silent_p.A150A	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	201					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGGTGGCAGCAGGGACAAAGC	0.502																																																	0													77.0	74.0	75.0					9																	127990265		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.603A>G	9.37:g.127990265A>G			A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1	p.A201	ENST00000373538.3	37	c.603	CCDS6862.1	9																																																																																			RABEPK	-	pfam_Kelch_1	ENSG00000136933		0.502	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEPK	HGNC	protein_coding	OTTHUMT00000054064.1	-	0.00	69	0	A	NM_005833		127990265	+1	tier1	-	no_errors	ENST00000373538	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.997	G
RABGAP1L	9910	genome.wustl.edu	37	1	174517133	174517133	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:174517133G>A	ENST00000357444.6	+	14	2039	c.1758G>A	c.(1756-1758)gaG>gaA	p.E586E	RABGAP1L_ENST00000251507.4_Intron			B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CCTTTCCTGAGCCTGAATTGT	0.393																																																	0																																										SO:0001819	synonymous_variant	0			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000357444.6:c.1758G>A	1.37:g.174517133G>A			B7ZAA4	Silent	SNP	pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.E586	ENST00000357444.6	37	c.1758		1																																																																																			RABGAP1L	-	NULL	ENSG00000152061		0.393	RABGAP1L-003	KNOWN	basic	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084499.1	-	0.00	65	0	G	NM_001243765		174517133	+1	tier1	-	no_errors	ENST00000357444	ensembl	human	known	74_37	silent	7.89	70	6	SNP	0.000	A
RAD21	5885	genome.wustl.edu	37	8	117862896	117862898	+	In_Frame_Del	DEL	CTT	CTT	-	rs201422711		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:117862896_117862898delCTT	ENST00000297338.2	-	12	1866_1868	c.1579_1581delAAG	c.(1579-1581)aagdel	p.K527del	RAD21_ENST00000517749.1_5'Flank|RAD21_ENST00000518055.1_In_Frame_Del_p.K72del|RAD21_ENST00000523986.1_In_Frame_Del_p.K31del	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	527					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					tctctttctccttctctttttcT	0.379																																																	0																																										SO:0001651	inframe_deletion	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1579_1581delAAG	8.37:g.117862896_117862898delCTT	ENSP00000297338:p.Lys527del		A8K0E0|Q15001|Q99568	In_Frame_Del	DEL	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA	p.K527in_frame_del	ENST00000297338.2	37	c.1581_1579	CCDS6321.1	8																																																																																			RAD21	-	pfam_ScpA	ENSG00000164754		0.379	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1		0.00	68	0	CTT	NM_006265		117862898	-1	tier1		no_errors	ENST00000297338	ensembl	human	known	74_37	in_frame_del	22.95	47	14	DEL	1.000:1.000:1.000	-
RAD54L2	23132	genome.wustl.edu	37	3	51680478	51680478	+	Missense_Mutation	SNP	G	G	A	rs143819415		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:51680478G>A	ENST00000409535.2	+	18	3132	c.3007G>A	c.(3007-3009)Gcc>Acc	p.A1003T	RAD54L2_ENST00000296477.3_Missense_Mutation_p.A697T	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1003						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CAGCATCCCCGCCTTCAGCCA	0.517																																																	0								G	THR/ALA	0,4406		0,0,2203	60.0	54.0	56.0		3007	5.6	1.0	3	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RAD54L2	NM_015106.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	1003/1468	51680478	2,13004	2203	4300	6503	SO:0001583	missense	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3007G>A	3.37:g.51680478G>A	ENSP00000386520:p.Ala1003Thr		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A1003T	ENST00000409535.2	37	c.3007	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.561507|4.561507	0.86335|0.86335	0.0|0.0	2.33E-4|2.33E-4	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	D;D|.	0.93906|.	-3.23;-3.31|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69160|0.69160	0.3080|0.3080	L|L	0.48642|0.48642	1.525|1.525	0.49915|0.49915	D|D	0.999835|0.999835	D;P|.	0.63046|.	0.992;0.703|.	P;B|.	0.48063|.	0.565;0.115|.	T|T	0.64791|0.64791	-0.6324|-0.6324	10|5	0.27785|.	T|.	0.31|.	-16.7463|-16.7463	18.6053|18.6053	0.91264|0.91264	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1003;592|.	Q9Y4B4;B3KV54|.	ARIP4_HUMAN;.|.	T|H	1003;697|831	ENSP00000386520:A1003T;ENSP00000296477:A697T|.	ENSP00000296477:A697T|.	A|R	+|+	1|2	0|0	RAD54L2|RAD54L2	51655518|51655518	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.911000|0.911000	0.54048|0.54048	7.493000|7.493000	0.81493|0.81493	2.638000|2.638000	0.89438|0.89438	0.462000|0.462000	0.41574|0.41574	GCC|CGC	RAD54L2	-	NULL	ENSG00000164080		0.517	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	-	0.00	29	0	G	NM_015106		51680478	+1	tier1	rs143819415	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	45.45	12	10	SNP	0.999	A
RALGAPA2	57186	genome.wustl.edu	37	20	20565580	20565580	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:20565580C>T	ENST00000202677.7	-	19	2466	c.2459G>A	c.(2458-2460)aGc>aAc	p.S820N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	820					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGCAGGGCTGCTGCTTCTTCG	0.373																																																	0													131.0	125.0	127.0					20																	20565580		1827	4078	5905	SO:0001583	missense	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2459G>A	20.37:g.20565580C>T	ENSP00000202677:p.Ser820Asn		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.S820N	ENST00000202677.7	37	c.2459	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.530894|2.530894	0.45073|0.45073	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|T	.|0.70516	.|-0.49	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.241501	.|0.46758	.|D	.|0.000272	T|T	0.61211|0.61211	0.2329|0.2329	L|L	0.38838|0.38838	1.175|1.175	0.32223|0.32223	N|N	0.574938|0.574938	.|B;B	.|0.19200	.|0.016;0.034	.|B;B	.|0.15870	.|0.014;0.012	T|T	0.65919|0.65919	-0.6051|-0.6051	5|10	.|0.54805	.|T	.|0.06	.|.	12.6709|12.6709	0.56866|0.56866	0.0:0.9198:0.0:0.0802|0.0:0.9198:0.0:0.0802	.|.	.|658;820	.|A8MSM5;Q2PPJ7	.|.;RGPA2_HUMAN	T|N	637|820	.|ENSP00000202677:S820N	.|ENSP00000202677:S820N	A|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20513580|20513580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.318000|3.318000	0.51975|0.51975	2.747000|2.747000	0.94245|0.94245	0.591000|0.591000	0.81541|0.81541	GCA|AGC	RALGAPA2	-	NULL	ENSG00000188559		0.373	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	-	0.00	32	0	C	NM_020343		20565580	-1	tier1	-	no_errors	ENST00000202677	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T
RALGAPB	57148	genome.wustl.edu	37	20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:37146233delC	ENST00000262879.6	+	8	1420	c.1136delC	c.(1135-1137)accfs	p.T379fs	MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.T379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Del_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.T157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.T379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCAGTACCACCCCCCCACAT	0.448																																																	1	Insertion - Frameshift(1)	lung(1)											134.0	123.0	126.0					20																	37146233		2203	4300	6503	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.1136delC	20.37:g.37146233delC	ENSP00000262879:p.Thr379fs		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.P381fs	ENST00000262879.6	37	c.1136	CCDS13305.1	20																																																																																			RALGAPB	-	NULL	ENSG00000170471		0.448	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1		0.00	104	0	C	NM_020336		37146233	+1	tier1		no_errors	ENST00000262879	ensembl	human	known	74_37	frame_shift_del	25.97	57	20	DEL	1.000	-
RAN	5901	genome.wustl.edu	37	12	131360212	131360212	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:131360212T>G	ENST00000543796.1	+	6	749	c.491T>G	c.(490-492)cTt>cGt	p.L164R	RAN_ENST00000254675.3_Missense_Mutation_p.L76R|RAN_ENST00000392369.2_Missense_Mutation_p.L164R|RAN_ENST00000392367.3_Missense_Mutation_p.L181R|RAN_ENST00000541630.1_Missense_Mutation_p.L76R			P62826	RAN_HUMAN	RAN, member RAS oncogene family	164					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		TTCCTCTGGCTTGCTAGGAAG	0.408																																																	0													54.0	55.0	54.0					12																	131360212		2203	4300	6503	SO:0001583	missense	0			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.491T>G	12.37:g.131360212T>G	ENSP00000446215:p.Leu164Arg		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L164R	ENST00000543796.1	37	c.491	CCDS9271.1	12	.	.	.	.	.	.	.	.	.	.	T	21.0	4.081216	0.76528	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000541630;ENST00000392369;ENST00000254675;ENST00000535090;ENST00000392367	D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	H	0.97214	3.96	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	D	0.95674	0.8726	10	0.87932	D	0	-20.1153	12.2939	0.54833	0.0:0.0:0.0:1.0	.	164;164	A8K3Z8;P62826	.;RAN_HUMAN	R	164;182;76;164;76;160;181	ENSP00000446215:L164R;ENSP00000396127:L182R;ENSP00000441210:L76R;ENSP00000376176:L164R;ENSP00000254675:L76R;ENSP00000444042:L160R;ENSP00000376174:L181R	ENSP00000254675:L76R	L	+	2	0	RAN	129926165	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	7.590000	0.82653	1.554000	0.49487	0.460000	0.39030	CTT	RAN	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase	ENSG00000132341		0.408	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAN	HGNC	protein_coding	OTTHUMT00000259441.2	-	0.00	78	0	T	NM_006325		131360212	+1	tier1	-	no_errors	ENST00000392369	ensembl	human	known	74_37	missense	25.64	57	20	SNP	1.000	G
RAP1GDS1	5910	genome.wustl.edu	37	4	99363154	99363154	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:99363154G>A	ENST00000408927.3	+	15	1823	c.1710G>A	c.(1708-1710)aaG>aaA	p.K570K	RAP1GDS1_ENST00000339360.5_Silent_p.K571K|RAP1GDS1_ENST00000380158.4_Silent_p.K522K|RAP1GDS1_ENST00000264572.7_Silent_p.K479K|RAP1GDS1_ENST00000453712.2_Silent_p.K570K|RAP1GDS1_ENST00000408900.3_Silent_p.K521K	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	570					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTCTACACAAGGAAGTACAGG	0.378			T	NUP98	T-ALL																																			Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	0													68.0	68.0	68.0					4																	99363154		1875	4107	5982	SO:0001819	synonymous_variant	0				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1710G>A	4.37:g.99363154G>A			E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.K571	ENST00000408927.3	37	c.1713	CCDS43253.1	4																																																																																			RAP1GDS1	-	superfamily_ARM-type_fold	ENSG00000138698		0.378	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	HGNC	protein_coding	OTTHUMT00000363273.2	-	0.00	43	0	G	NM_001100426		99363154	+1	tier1	-	no_errors	ENST00000339360	ensembl	human	known	74_37	silent	18.37	40	9	SNP	1.000	A
RAPGEF1	2889	genome.wustl.edu	37	9	134501680	134501680	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:134501680C>T	ENST00000372189.3	-	10	1403	c.1280G>A	c.(1279-1281)gGc>gAc	p.G427D	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.G444D|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.G445D|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	427					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GAAAGGAGGGCCAAGAAATGG	0.612																																																	0													34.0	39.0	38.0					9																	134501680		1941	4137	6078	SO:0001583	missense	0			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1280G>A	9.37:g.134501680C>T	ENSP00000361263:p.Gly427Asp		Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G445D	ENST00000372189.3	37	c.1334	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648724	0.67358	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.42131	0.98;0.98;0.98	4.8	4.8	0.61643	.	0.872335	0.10315	N	0.689477	T	0.49898	0.1584	L	0.60455	1.87	0.38360	D	0.944592	P;P;D	0.52996	0.927;0.927;0.957	B;B;P	0.46049	0.424;0.305;0.502	T	0.58651	-0.7599	10	0.62326	D	0.03	.	17.238	0.87005	0.0:1.0:0.0:0.0	.	444;427;445	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	D	427;444;321;427;445;407;353;122;444	ENSP00000361269:G444D;ENSP00000361263:G427D;ENSP00000361264:G445D	ENSP00000266110:G427D	G	-	2	0	RAPGEF1	133491501	1.000000	0.71417	0.962000	0.40283	0.639000	0.38242	3.883000	0.56168	2.376000	0.81061	0.655000	0.94253	GGC	RAPGEF1	-	NULL	ENSG00000107263		0.612	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	-	0.00	64	0	C	NM_005312		134501680	-1	tier1	-	no_errors	ENST00000372190	ensembl	human	known	74_37	missense	33.33	46	23	SNP	1.000	T
RAPGEF2	9693	genome.wustl.edu	37	4	160225603	160225603	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:160225603G>A	ENST00000264431.4	+	2	589	c.170G>A	c.(169-171)aGc>aAc	p.S57N	RAPGEF2_ENST00000504604.1_3'UTR	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	57					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCTGGGAGCAGCAGTCTTTCT	0.403																																																	0													167.0	156.0	160.0					4																	160225603		1909	4124	6033	SO:0001583	missense	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.170G>A	4.37:g.160225603G>A	ENSP00000264431:p.Ser57Asn		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S57N	ENST00000264431.4	37	c.170	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931147	0.92389	.	.	ENSG00000109756	ENST00000505478;ENST00000510510;ENST00000264431;ENST00000514565	T	0.39592	1.07	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61598	-0.7030	10	0.41790	T	0.15	.	19.8097	0.96542	0.0:0.0:1.0:0.0	.	57	Q9Y4G8	RPGF2_HUMAN	N	213;55;57;38	ENSP00000264431:S57N	ENSP00000264431:S57N	S	+	2	0	RAPGEF2	160445053	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.685000	0.91497	0.484000	0.47621	AGC	RAPGEF2	-	NULL	ENSG00000109756		0.403	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	-	0.00	61	0	G	NM_014247		160225603	+1	tier1	-	no_errors	ENST00000264431	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	A
RAPGEF4	11069	genome.wustl.edu	37	2	173885367	173885367	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:173885367A>G	ENST00000397081.3	+	23	2320	c.2177A>G	c.(2176-2178)aAt>aGt	p.N726S	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.N506S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.N726S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.N573S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.N573S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.N555S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.N582S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.N725S	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	726					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTCAAACCTAATGATGTTTCA	0.438																																																	0													242.0	227.0	232.0					2																	173885367		1928	4139	6067	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2177A>G	2.37:g.173885367A>G	ENSP00000380271:p.Asn726Ser		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.N726S	ENST00000397081.3	37	c.2177	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966323	0.53507	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.95	5.95	0.96441	Ras-association (1);Ras guanine nucleotide exchange factor, domain (1);	0.043512	0.85682	D	0.000000	T	0.17238	0.0414	L	0.35793	1.09	0.53688	D	0.999975	B;B	0.13594	0.008;0.005	B;B	0.15484	0.012;0.013	T	0.01800	-1.1271	10	0.46703	T	0.11	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	582;726	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	S	725;726;726;582;555;573;573;506	ENSP00000264111:N725S;ENSP00000380271:N726S;ENSP00000387104:N726S;ENSP00000380276:N582S;ENSP00000440135:N555S;ENSP00000440250:N573S;ENSP00000437384:N573S;ENSP00000438011:N506S	ENSP00000264111:N725S	N	+	2	0	RAPGEF4	173593613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.729000	0.68538	2.279000	0.76181	0.533000	0.62120	AAT	RAPGEF4	-	pfam_Ras-assoc,superfamily_Ras_GEF_dom	ENSG00000091428		0.438	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	-	0.00	59	0	A	NM_007023		173885367	+1	tier1	-	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	30.91	38	17	SNP	1.000	G
RAPH1	65059	genome.wustl.edu	37	2	204309641	204309641	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:204309641C>T	ENST00000319170.5	-	13	2025	c.1726G>A	c.(1726-1728)Gta>Ata	p.V576I	RAPH1_ENST00000308091.4_Missense_Mutation_p.V628I|RAPH1_ENST00000439222.1_Missense_Mutation_p.V601I|RAPH1_ENST00000418114.1_Missense_Mutation_p.V576I|RAPH1_ENST00000374493.3_Missense_Mutation_p.V628I|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000419464.1_Missense_Mutation_p.V576I|RAPH1_ENST00000453034.1_Missense_Mutation_p.V628I|RAPH1_ENST00000374489.2_Missense_Mutation_p.V603I|RAPH1_ENST00000457812.1_Missense_Mutation_p.V576I|RAPH1_ENST00000374488.2_Missense_Mutation_p.V601I|RAPH1_ENST00000423104.1_Missense_Mutation_p.V603I	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	576					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCAGAGAATACGGAGCTCACA	0.463																																																	0													137.0	136.0	136.0					2																	204309641		2203	4300	6503	SO:0001583	missense	0			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1726G>A	2.37:g.204309641C>T	ENSP00000316543:p.Val576Ile		Q96Q37|Q9C0I2	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.V628I	ENST00000319170.5	37	c.1882	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	C	5.511	0.279248	0.10458	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.39406	1.08;2.02;2.02;1.1;1.14;1.16;1.14;1.08;1.1;1.17;1.08	5.3	1.63	0.23807	.	0.112997	0.39475	N	0.001359	T	0.14399	0.0348	N	0.02721	-0.515	0.19775	N	0.999953	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.34304	-0.9834	10	0.02654	T	1	-9.9014	9.2308	0.37437	0.0:0.2081:0.0:0.7919	.	628;628;576	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	I	576;576;628;603;601;628;601;576;603;628;601;576;603	ENSP00000392854:V576I;ENSP00000316543:V576I;ENSP00000363617:V628I;ENSP00000363613:V603I;ENSP00000363612:V601I;ENSP00000311293:V628I;ENSP00000411138:V601I;ENSP00000390578:V576I;ENSP00000397751:V603I;ENSP00000406662:V628I;ENSP00000396711:V576I	ENSP00000311293:V628I	V	-	1	0	RAPH1	204017886	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	4.293000	0.59037	0.039000	0.15632	-0.417000	0.06048	GTA	RAPH1	-	superfamily_Kinase-like_dom	ENSG00000173166		0.463	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2	-	0.00	69	0	C	NM_025252		204309641	-1	tier1	-	no_errors	ENST00000374493	ensembl	human	known	74_37	missense	33.87	41	21	SNP	1.000	T
RASA1	5921	genome.wustl.edu	37	5	86669996	86669996	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:86669996T>C	ENST00000274376.6	+	14	2357	c.1793T>C	c.(1792-1794)tTa>tCa	p.L598S	RASA1_ENST00000456692.2_Missense_Mutation_p.L421S|RASA1_ENST00000506290.1_Missense_Mutation_p.L432S|RASA1_ENST00000512763.1_Missense_Mutation_p.L431S|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	598	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGCCTTGTTTTACATATTGAA	0.308																																																	0													48.0	45.0	46.0					5																	86669996		2202	4299	6501	SO:0001583	missense	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1793T>C	5.37:g.86669996T>C	ENSP00000274376:p.Leu598Ser		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.L598S	ENST00000274376.6	37	c.1793	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303232	0.81136	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.7	5.7	0.88788	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.80764	0.991;0.989;0.991;0.984;0.994	D	0.85839	0.1396	10	0.87932	D	0	.	15.9734	0.80040	0.0:0.0:0.0:1.0	.	432;431;432;421;598	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	S	598;631;421;431;432	ENSP00000274376:L598S;ENSP00000411221:L421S;ENSP00000422008:L431S;ENSP00000420905:L432S	ENSP00000274376:L598S	L	+	2	0	RASA1	86705752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.180000	0.69256	0.454000	0.30748	TTA	RASA1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000145715		0.308	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	-	0.00	53	0	T	NM_002890		86669996	+1	tier1	-	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	C
RASA1	5921	genome.wustl.edu	37	5	86675571	86675571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:86675571delA	ENST00000274376.6	+	19	3071	c.2507delA	c.(2506-2508)gaafs	p.E836fs	RASA1_ENST00000456692.2_Frame_Shift_Del_p.E659fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.E670fs|RASA1_ENST00000512763.1_Frame_Shift_Del_p.E669fs|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	836	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCAAAGTTAGAAAAAAATGAA	0.308																																																	0													75.0	76.0	76.0					5																	86675571		2203	4296	6499	SO:0001589	frameshift_variant	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2507delA	5.37:g.86675571delA	ENSP00000274376:p.Glu836fs		B2R6W3|Q9UDI1	Frame_Shift_Del	DEL	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.N838fs	ENST00000274376.6	37	c.2507	CCDS34200.1	5																																																																																			RASA1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145715		0.308	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1		0.00	50	0	A	NM_002890		86675571	+1	tier1		no_errors	ENST00000274376	ensembl	human	known	74_37	frame_shift_del	14.71	29	5	DEL	1.000	-
RASA1	5921	genome.wustl.edu	37	5	86675607	86675607	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:86675607T>C	ENST00000274376.6	+	19	3107	c.2543T>C	c.(2542-2544)cTa>cCa	p.L848P	RASA1_ENST00000456692.2_Missense_Mutation_p.L671P|RASA1_ENST00000506290.1_Missense_Mutation_p.L682P|RASA1_ENST00000512763.1_Missense_Mutation_p.L681P|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	848	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTAACACACCTATTGAACATA	0.313																																																	0													86.0	87.0	87.0					5																	86675607		2203	4296	6499	SO:0001583	missense	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2543T>C	5.37:g.86675607T>C	ENSP00000274376:p.Leu848Pro		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.L848P	ENST00000274376.6	37	c.2543	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229726	0.79688	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.98	4.98	0.66077	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.143803	0.47093	D	0.000257	T	0.77651	0.4162	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.85109	0.0962	10	0.87932	D	0	.	14.9763	0.71277	0.0:0.0:0.0:1.0	.	682;681;682;671;848	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	P	848;671;681;682	ENSP00000274376:L848P;ENSP00000411221:L671P;ENSP00000422008:L681P;ENSP00000420905:L682P	ENSP00000274376:L848P	L	+	2	0	RASA1	86711363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.944000	0.87722	1.999000	0.58509	0.533000	0.62120	CTA	RASA1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145715		0.313	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	-	0.00	46	0	T	NM_002890		86675607	+1	tier1	-	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	C
RASAL1	8437	genome.wustl.edu	37	12	113537619	113537619	+	3'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:113537619C>T	ENST00000261729.5	-	0	2845				RASAL1_ENST00000546530.1_3'UTR|RASAL1_ENST00000446861.3_3'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)						intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCTCTGGGAGCCTCCAAACCA	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.*115G>A	12.37:g.113537619C>T			B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	RNA	SNP	-	NULL	ENST00000261729.5	37	NULL	CCDS9165.1	12																																																																																			RASAL1	-	-	ENSG00000111344		0.602	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	-	0.00	24	0	C	NM_004658		113537619	-1	tier1	-	no_errors	ENST00000549444	ensembl	human	putative	74_37	rna	17.86	23	5	SNP	0.000	T
RASAL2	9462	genome.wustl.edu	37	1	178062370	178062370	+	5'Flank	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:178062370C>T	ENST00000367649.3	+	0	0				RASAL2_ENST00000448150.3_5'Flank|RASAL2-AS1_ENST00000421505.1_lincRNA			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2						negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCCATCCACACCACACTTCTT	0.512																																																	0																																										SO:0001631	upstream_gene_variant	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022		1.37:g.178062370C>T	Exception_encountered		F8W755|O95174|Q2TB22|Q5TFU9	RNA	SNP	-	NULL	ENST00000367649.3	37	NULL	CCDS1321.2	1																																																																																			RASAL2-AS1	-	-	ENSG00000224687		0.512	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASAL2-AS1	HGNC	protein_coding	OTTHUMT00000352415.1	-	0.00	38	0	C	NM_170692		178062370	-1	tier1	-	no_errors	ENST00000419458	ensembl	human	known	74_37	rna	9.52	38	4	SNP	1.000	T
RASAL2	9462	genome.wustl.edu	37	1	178436542	178436542	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:178436542A>T	ENST00000462775.1	+	15	3366	c.3241A>T	c.(3241-3243)Ata>Tta	p.I1081L	RASAL2_ENST00000448150.3_Missense_Mutation_p.I1211L|RASAL2_ENST00000367649.3_Missense_Mutation_p.I1222L	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1081					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAAGCAGAAAATAATTGATGC	0.413																																																	0													91.0	87.0	88.0					1																	178436542		2203	4300	6503	SO:0001583	missense	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.3241A>T	1.37:g.178436542A>T	ENSP00000420558:p.Ile1081Leu		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.I1222L	ENST00000462775.1	37	c.3664	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.021071|4.021071	0.75275|0.75275	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775;ENST00000367647|ENST00000433130	T;T;T|.	0.12672|.	2.66;2.66;2.66|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61590|0.61590	0.2359|0.2359	L|L	0.45137|0.45137	1.4|1.4	0.49798|0.49798	D|D	0.999821|0.999821	D;P;B|.	0.54397|.	0.966;0.885;0.207|.	P;P;B|.	0.57620|.	0.772;0.824;0.413|.	T|T	0.58476|0.58476	-0.7630|-0.7630	10|5	0.87932|.	D|.	0|.	.|.	15.5585|15.5585	0.76219|0.76219	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1211;1081;1222|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	L|I	1211;1222;1081;24|631	ENSP00000407768:I1211L;ENSP00000356621:I1222L;ENSP00000420558:I1081L|.	ENSP00000356619:I24L|.	I|N	+|+	1|2	0|0	RASAL2|RASAL2	176703165|176703165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.203000|7.203000	0.77864|0.77864	2.145000|2.145000	0.66743|0.66743	0.528000|0.528000	0.53228|0.53228	ATA|AAT	RASAL2	-	pfam_DUF3498	ENSG00000075391		0.413	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3		0.00	22	0	A	NM_170692		178436542	+1			no_errors	ENST00000367649	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
RASEF	158158	genome.wustl.edu	37	9	85637251	85637251	+	Splice_Site	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:85637251G>A	ENST00000376447.3	-	3	929	c.669C>T	c.(667-669)gaC>gaT	p.D223D		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	223					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AGAAACTCACGTCTTTCCGTG	0.502																																																	0													251.0	213.0	226.0					9																	85637251		2203	4300	6503	SO:0001630	splice_region_variant	0			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.669+1C>T	9.37:g.85637251G>A			A6NC29|Q96N04	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.D223	ENST00000376447.3	37	c.669	CCDS6662.1	9																																																																																			RASEF	-	superfamily_Vinculin/catenin	ENSG00000165105		0.502	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1	-	0.00	54	0	G	NM_152573	Silent	85637251	-1	tier1	-	no_errors	ENST00000376447	ensembl	human	known	74_37	silent	26.23	45	16	SNP	0.080	A
RASGRP1	10125	genome.wustl.edu	37	15	38786678	38786678	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:38786678G>A	ENST00000310803.5	-	16	2341	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R687W|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R773W|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R674W|RASGRP1_ENST00000558164.1_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	722	PT region; mediates the BCR-dependent translocation to plasma membrane. {ECO:0000250}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ACAAAAGCCCGCTTTCTGACC	0.512																																																	0													59.0	58.0	58.0					15																	38786678		1848	4087	5935	SO:0001583	missense	0			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.2164C>T	15.37:g.38786678G>A	ENSP00000310244:p.Arg722Trp		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.R722W	ENST00000310803.5	37	c.2164	CCDS45222.1	15	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974311	0.74246	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000539159	T;D;T	0.81908	-1.29;-1.55;-1.37	5.23	3.27	0.37495	.	0.440664	0.24859	N	0.035038	T	0.81202	0.4773	N	0.24115	0.695	0.31308	N	0.687476	D;D	0.69078	0.996;0.997	P;P	0.55923	0.617;0.787	T	0.82341	-0.0505	10	0.87932	D	0	-20.2661	13.0403	0.58895	0.0:0.0:0.3982:0.6017	.	722;687	O95267;O95267-2	GRP1_HUMAN;.	W	722;687;674	ENSP00000310244:R722W;ENSP00000388540:R687W;ENSP00000444762:R674W	ENSP00000310244:R722W	R	-	1	2	RASGRP1	36573970	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.447000	0.44917	0.718000	0.32166	0.655000	0.94253	CGG	RASGRP1	-	NULL	ENSG00000172575		0.512	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRP1	HGNC	protein_coding	OTTHUMT00000418223.1	-	0.00	54	0	G	NM_005739		38786678	-1	tier1	-	no_errors	ENST00000310803	ensembl	human	known	74_37	missense	35.90	25	14	SNP	1.000	A
RAVER2	55225	genome.wustl.edu	37	1	65296647	65296647	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:65296647delA	ENST00000294428.3	+	12	2133	c.2055delA	c.(2053-2055)ttafs	p.L685fs	RAVER2_ENST00000371072.4_Frame_Shift_Del_p.L672fs|RAVER2_ENST00000430964.2_Frame_Shift_Del_p.L224fs			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	685						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AAACTTACTTAAAAAAGAAGC	0.443																																																	0													129.0	121.0	123.0					1																	65296647		1870	4108	5978	SO:0001589	frameshift_variant	0			AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.2055delA	1.37:g.65296647delA	ENSP00000294428:p.Leu685fs		Q6P141|Q9NPV7	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K687fs	ENST00000294428.3	37	c.2055		1																																																																																			RAVER2	-	NULL	ENSG00000162437		0.443	RAVER2-201	KNOWN	basic	protein_coding	RAVER2	HGNC	protein_coding			0.00	65	0	A	NM_018211		65296647	+1	tier1		no_errors	ENST00000294428	ensembl	human	known	74_37	frame_shift_del	18.97	47	11	DEL	0.993	-
RB1CC1	9821	genome.wustl.edu	37	8	53554985	53554985	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:53554985T>C	ENST00000025008.5	-	18	4786	c.4263A>G	c.(4261-4263)tcA>tcG	p.S1421S	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.S1421S|RB1CC1_ENST00000539297.1_Silent_p.S1421S	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1421					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CGGATCTATCTGATTCACCTG	0.443																																					GBM(180;1701 2102 13475 42023 52570)												0													126.0	120.0	122.0					8																	53554985		2203	4300	6503	SO:0001819	synonymous_variant	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4263A>G	8.37:g.53554985T>C			Q86YR4|Q8WVU9|Q92601	Silent	SNP	pfam_Autophagy-rel_p11	p.S1421	ENST00000025008.5	37	c.4263	CCDS34892.1	8																																																																																			RB1CC1	-	NULL	ENSG00000023287		0.443	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	-	0.00	53	0	T	NM_014781		53554985	-1	tier1	-	no_errors	ENST00000025008	ensembl	human	known	74_37	silent	15.09	45	8	SNP	0.018	C
RB1CC1	9821	genome.wustl.edu	37	8	53574183	53574183	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:53574183A>T	ENST00000025008.5	-	9	1793	c.1270T>A	c.(1270-1272)Ttg>Atg	p.L424M	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L424M|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L424M	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	424					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGATTTTGCAACATAATCATC	0.353																																					GBM(180;1701 2102 13475 42023 52570)												0													162.0	156.0	158.0					8																	53574183		2203	4300	6503	SO:0001583	missense	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1270T>A	8.37:g.53574183A>T	ENSP00000025008:p.Leu424Met		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.L424M	ENST00000025008.5	37	c.1270	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117601	0.77323	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.18810	2.19;2.19;2.19	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000004	T	0.43277	0.1240	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.38672	-0.9650	10	0.72032	D	0.01	-8.2713	9.9258	0.41492	0.9235:0.0:0.0765:0.0	.	424;424	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	M	424	ENSP00000025008:L424M;ENSP00000396067:L424M;ENSP00000445960:L424M	ENSP00000025008:L424M	L	-	1	2	RB1CC1	53736736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.862000	0.62976	2.116000	0.64780	0.528000	0.53228	TTG	RB1CC1	-	NULL	ENSG00000023287		0.353	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	-	0.00	47	0	A	NM_014781		53574183	-1	tier1	-	no_errors	ENST00000025008	ensembl	human	known	74_37	missense	12.12	58	8	SNP	1.000	T
RBBP4	5928	genome.wustl.edu	37	1	33134598	33134598	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:33134598C>T	ENST00000373493.5	+	6	785	c.626C>T	c.(625-627)gCc>gTc	p.A209V	RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000544435.1_5'UTR|RBBP4_ENST00000458695.2_Missense_Mutation_p.A174V|RBBP4_ENST00000414241.3_Missense_Mutation_p.A208V|RBBP4_ENST00000373485.1_Missense_Mutation_p.A209V	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	209					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GACATCAGTGCCGTTCCAAAG	0.443																																																	0													96.0	88.0	91.0					1																	33134598		2203	4300	6503	SO:0001583	missense	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.626C>T	1.37:g.33134598C>T	ENSP00000362592:p.Ala209Val		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A209V	ENST00000373493.5	37	c.626	CCDS366.1	1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867040	0.72065	.	.	ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000373485;ENST00000458695	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.091784	0.85682	D	0.000000	T	0.66247	0.2770	M	0.74647	2.275	0.80722	D	1	B;B	0.22211	0.066;0.039	B;B	0.24006	0.05;0.022	T	0.64943	-0.6288	10	0.54805	T	0.06	.	18.6116	0.91286	0.0:1.0:0.0:0.0	.	208;209	Q09028-2;Q09028	.;RBBP4_HUMAN	V	208;209;209;174	ENSP00000398242:A208V;ENSP00000362592:A209V;ENSP00000362584:A209V;ENSP00000396057:A174V	ENSP00000362584:A209V	A	+	2	0	RBBP4	32907185	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.832000	0.62759	2.725000	0.93324	0.591000	0.81541	GCC	RBBP4	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000162521		0.443	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	HGNC	protein_coding	OTTHUMT00000021957.3	-	0.00	22	0	C	NM_005610		33134598	+1	tier1	-	no_errors	ENST00000373493	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.999	T
RBBP6	5930	genome.wustl.edu	37	16	24583221	24583221	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:24583221G>A	ENST00000319715.4	+	18	5266	c.4834G>A	c.(4834-4836)Gtc>Atc	p.V1612I	RBBP6_ENST00000381039.3_Missense_Mutation_p.V772I|RBBP6_ENST00000348022.2_Missense_Mutation_p.V1578I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1612					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAAGAGTACTGTCAAGCCTAA	0.378																																																	0													87.0	92.0	90.0					16																	24583221		2197	4300	6497	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4834G>A	16.37:g.24583221G>A	ENSP00000317872:p.Val1612Ile		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.V1612I	ENST00000319715.4	37	c.4834	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	0.302	-0.973000	0.02215	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17854	2.25;2.48;2.48	5.94	-10.6	0.00265	.	1.458410	0.03935	N	0.286013	T	0.08846	0.0219	N	0.17082	0.46	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	0.44174	-0.9345	10	0.05959	T	0.93	2.5205	16.7382	0.85453	0.0998:0.2346:0.6656:0.0	.	772;1578;1612	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	I	772;1612;1578	ENSP00000370427:V772I;ENSP00000317872:V1612I;ENSP00000316291:V1578I	ENSP00000317872:V1612I	V	+	1	0	RBBP6	24490722	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.906000	0.04071	-1.979000	0.00992	-0.251000	0.11542	GTC	RBBP6	-	NULL	ENSG00000122257		0.378	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	-	0.00	47	0	G	NM_006910		24583221	+1	tier1	-	no_errors	ENST00000319715	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.000	A
RBBP8	5932	genome.wustl.edu	37	18	20606158	20606158	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:20606158T>C	ENST00000399722.2	+	19	3000	c.2649T>C	c.(2647-2649)ccT>ccC	p.P883P	Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000327155.5_Silent_p.P883P|RBBP8_ENST00000399725.2_Missense_Mutation_p.L851P|RBBP8_ENST00000360790.5_Silent_p.P888P|RBBP8_ENST00000581687.1_Silent_p.P61P	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	883					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GACGTCAGCCTTACAACGCAA	0.358								Homologous recombination																																									0													121.0	107.0	112.0					18																	20606158		2203	4300	6503	SO:0001819	synonymous_variant	0			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2649T>C	18.37:g.20606158T>C			A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N	p.L851P	ENST00000399722.2	37	c.2552	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	T	9.416	1.081702	0.20309	.	.	ENSG00000101773	ENST00000399725;ENST00000399721	T	0.31510	1.49	5.75	3.31	0.37934	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.80722	D	1	B	0.29508	0.246	B	0.26094	0.066	T	0.05649	-1.0872	7	.	.	.	-5.1471	7.8719	0.29571	0.0:0.0713:0.1384:0.7903	.	851	A6NKN2	.	P	851	ENSP00000382630:L851P	.	L	+	2	0	RBBP8	18860156	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	1.505000	0.35736	0.426000	0.26116	0.533000	0.62120	CTT	RBBP8	-	NULL	ENSG00000101773		0.358	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	-	0.00	50	0	T	NM_203291		20606158	+1	tier1	-	no_errors	ENST00000399725	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	C
RBFOX3	146713	genome.wustl.edu	37	17	77093503	77093503	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:77093503G>A	ENST00000453134.2	-	11	1138	c.626C>T	c.(625-627)aCg>aTg	p.T209M	RBFOX3_ENST00000415831.1_Missense_Mutation_p.T209M|RBFOX3_ENST00000580155.1_Missense_Mutation_p.T209M|RBFOX3_ENST00000583458.1_Missense_Mutation_p.T208M|RBFOX3_ENST00000584778.1_Missense_Mutation_p.T209M|RBFOX3_ENST00000582043.1_Missense_Mutation_p.T178M			A6NFN3	RFOX3_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 3	209					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perikaryon (GO:0043204)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)	2						GGGGAACCCCGTCACTGCAGG	0.697																																																	0													2.0	4.0	3.0					17																	77093503		561	1387	1948	SO:0001583	missense	0				CCDS45805.1	17q25.3	2013-02-12			ENSG00000167281	ENSG00000167281		"""RNA binding motif (RRM) containing"""	27097	protein-coding gene	gene with protein product	"""neuronal nuclei"", ""hexaribonucleotide binding protein 3"""					16260614	Standard	NM_001082575		Approved	FOX-3, NeuN, HRNBP3	uc010dhs.4	A6NFN3	OTTHUMG00000150183	ENST00000453134.2:c.626C>T	17.37:g.77093503G>A	ENSP00000393262:p.Thr209Met		B4DEG6|B4DF29	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.T209M	ENST00000453134.2	37	c.626	CCDS45805.1	17	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583373	0.46006	.	.	ENSG00000167281	ENST00000338834;ENST00000415831;ENST00000453134	T;T	0.21031	2.03;2.03	3.77	3.77	0.43336	.	0.830709	0.10558	N	0.660670	T	0.26048	0.0635	N	0.08118	0	0.47276	D	0.999373	D;D	0.65815	0.994;0.995	D;P	0.62955	0.909;0.782	T	0.33523	-0.9865	10	0.59425	D	0.04	-4.4586	14.5421	0.68002	0.0:0.0:1.0:0.0	.	209;209	B4DF29;A6NFN3	.;RFOX3_HUMAN	M	208;209;209	ENSP00000408395:T209M;ENSP00000393262:T209M	ENSP00000344726:T208M	T	-	2	0	RBFOX3	74605098	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	9.166000	0.94766	1.934000	0.56057	0.462000	0.41574	ACG	RBFOX3	-	pfam_Fox-1_C_dom,pirsf_RNA-bd_Fox-1	ENSG00000167281		0.697	RBFOX3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RBFOX3	HGNC	protein_coding	OTTHUMT00000437658.1		0.00	22	0	G	NM_001082575		77093503	-1			no_errors	ENST00000415831	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	A
RBL1	5933	genome.wustl.edu	37	20	35689630	35689630	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:35689630A>G	ENST00000373664.3	-	9	1192	c.1126T>C	c.(1126-1128)Tat>Cat	p.Y376H	RBL1_ENST00000344359.3_Missense_Mutation_p.Y376H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	376					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCTCGTAAATATCTCCGTCCG	0.423																																																	0													116.0	110.0	112.0					20																	35689630		2203	4300	6503	SO:0001583	missense	0			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1126T>C	20.37:g.35689630A>G	ENSP00000362768:p.Tyr376His		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like	p.Y376H	ENST00000373664.3	37	c.1126	CCDS13289.1	20	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971042	0.74246	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.94046	-3.09;-3.34	4.68	3.57	0.40892	.	0.121926	0.64402	D	0.000020	D	0.95736	0.8613	M	0.81497	2.545	0.54753	D	0.999985	D;D	0.89917	1.0;0.989	D;P	0.91635	0.999;0.844	D	0.93662	0.6982	10	0.22706	T	0.39	-14.6989	10.7007	0.45926	0.857:0.0:0.0:0.1429	.	376;376	P28749-2;P28749	.;RBL1_HUMAN	H	376	ENSP00000362768:Y376H;ENSP00000343646:Y376H	ENSP00000343646:Y376H	Y	-	1	0	RBL1	35123044	1.000000	0.71417	0.516000	0.27786	0.972000	0.66771	8.587000	0.90810	0.790000	0.33803	0.533000	0.62120	TAT	RBL1	-	NULL	ENSG00000080839		0.423	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	-	0.00	49	0	A	NM_002895		35689630	-1	tier1	-	no_errors	ENST00000373664	ensembl	human	known	74_37	missense	15.25	50	9	SNP	0.988	G
RBL2	5934	genome.wustl.edu	37	16	53488648	53488648	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:53488648C>T	ENST00000262133.6	+	8	1210	c.1073C>T	c.(1072-1074)gCt>gTt	p.A358V	RBL2_ENST00000544545.1_Missense_Mutation_p.A142V|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	358					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGAGAGGATGCTGAGGAGGAA	0.413																																																	0													128.0	126.0	127.0					16																	53488648		2198	4300	6498	SO:0001583	missense	0			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1073C>T	16.37:g.53488648C>T	ENSP00000262133:p.Ala358Val		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A358V	ENST00000262133.6	37	c.1073	CCDS10748.1	16	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667075	0.67814	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.90955	-2.76;-2.33;-2.03	5.5	5.5	0.81552	.	0.053009	0.85682	D	0.000000	D	0.90542	0.7036	L	0.60067	1.865	0.51482	D	0.999922	B;D;P;P	0.54964	0.404;0.969;0.864;0.635	B;P;B;B	0.48770	0.056;0.589;0.38;0.081	D	0.90969	0.4818	10	0.62326	D	0.03	-15.1844	12.7048	0.57054	0.0:0.9247:0.0:0.0753	.	142;358;68;358	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	V	358;284;68;142	ENSP00000262133:A358V;ENSP00000443744:A284V;ENSP00000444685:A142V	ENSP00000262133:A358V	A	+	2	0	RBL2	52046149	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.924000	0.70054	2.585000	0.87301	0.555000	0.69702	GCT	RBL2	-	NULL	ENSG00000103479		0.413	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL2	HGNC	protein_coding	OTTHUMT00000256908.3	-	0.00	88	0	C	NM_005611		53488648	+1	tier1	-	no_errors	ENST00000262133	ensembl	human	known	74_37	missense	7.53	85	7	SNP	1.000	T
RBM12	10137	genome.wustl.edu	37	20	34242923	34242923	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:34242923G>T	ENST00000374114.3	-	3	585	c.322C>A	c.(322-324)Cca>Aca	p.P108T	CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_5'Flank|RBM12_ENST00000359646.1_Missense_Mutation_p.P108T|RBM12_ENST00000374104.3_Missense_Mutation_p.P108T|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	108						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GAGCTAGGTGGTGGTCCTGAT	0.438											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													189.0	180.0	183.0					20																	34242923		2203	4300	6503	SO:0001583	missense	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.322C>A	20.37:g.34242923G>T	ENSP00000363228:p.Pro108Thr	846	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P108T	ENST00000374114.3	37	c.322	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203900	0.09704	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458;ENST00000431148;ENST00000435161	T;T;T;T;T;T	0.25085	2.49;2.49;2.49;1.82;2.12;2.15	5.34	3.34	0.38264	.	0.218768	0.39687	N	0.001282	T	0.12944	0.0314	N	0.11560	0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08617	-1.0713	10	0.27082	T	0.32	0.29	10.2129	0.43152	0.0:0.133:0.5914:0.2757	.	108	Q9NTZ6	RBM12_HUMAN	T	108	ENSP00000363228:P108T;ENSP00000352668:P108T;ENSP00000363217:P108T;ENSP00000411036:P108T;ENSP00000392642:P108T;ENSP00000411692:P108T	ENSP00000352668:P108T	P	-	1	0	RBM12	33706337	0.996000	0.38824	0.666000	0.29783	0.989000	0.77384	2.410000	0.44592	0.772000	0.33382	0.650000	0.86243	CCA	RBM12	-	NULL	ENSG00000244462		0.438	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	-	0.00	67	0	G	NM_006047		34242923	-1	tier1	-	no_errors	ENST00000359646	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.494	T
RBM24	221662	genome.wustl.edu	37	6	17283276	17283276	+	Intron	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:17283276A>G	ENST00000379052.5	+	2	528				RBM24_ENST00000318204.5_Intron|RBM24_ENST00000425446.2_Intron	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24						cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			GTAAACTTGAACCATGGCTTG	0.408																																																	0																																										SO:0001627	intron_variant	0			BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.292+117A>G	6.37:g.17283276A>G			E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	RNA	SNP	-	NULL	ENST00000379052.5	37	NULL	CCDS47378.1	6																																																																																			RBM24	-	-	ENSG00000112183		0.408	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM24	HGNC	protein_coding	OTTHUMT00000039946.2	-	0.00	11	0	A	NM_153020		17283276	+1	tier1	-	no_errors	ENST00000504055	ensembl	human	known	74_37	rna	50.00	7	7	SNP	0.000	G
RBM25	58517	genome.wustl.edu	37	14	73570072	73570072	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:73570072G>A	ENST00000261973.7	+	10	1325	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q	RBM25_ENST00000527432.1_Missense_Mutation_p.R347Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	347	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gaacgagaacgggatagggac	0.527																																																	0													154.0	131.0	139.0					14																	73570072		2203	4300	6503	SO:0001583	missense	0			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1040G>A	14.37:g.73570072G>A	ENSP00000261973:p.Arg347Gln		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom	p.R347Q	ENST00000261973.7	37	c.1040	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594151	0.66219	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.15603	2.41;2.41	5.75	5.75	0.90469	.	0.059729	0.64402	D	0.000002	T	0.31638	0.0803	L	0.46157	1.445	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.00814	-1.1555	10	0.18710	T	0.47	.	17.7126	0.88326	0.0:0.0:1.0:0.0	.	347	P49756	RBM25_HUMAN	Q	347	ENSP00000261973:R347Q;ENSP00000431150:R347Q	ENSP00000261973:R347Q	R	+	2	0	RBM25	72639825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.547000	0.90665	2.712000	0.92718	0.655000	0.94253	CGG	RBM25	-	NULL	ENSG00000119707		0.527	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	-	0.00	21	0	G	XM_027330		73570072	+1	tier1	-	no_errors	ENST00000261973	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	A
RBM33	155435	genome.wustl.edu	37	7	155504069	155504070	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:155504069_155504070insT	ENST00000401878.3	+	8	1319_1320	c.1121_1122insT	c.(1120-1125)ccgccafs	p.P375fs	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	375	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATGATGACCCCGCCACCCGTGA	0.589																																																	0																																										SO:0001589	frameshift_variant	0			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	Exception_encountered	7.37:g.155504069_155504070insT	ENSP00000384160:p.Pro375fs		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Ins	INS	smart_RRM_dom	p.P375fs	ENST00000401878.3	37	c.1121_1122	CCDS5941.2	7																																																																																			RBM33	-	NULL	ENSG00000184863		0.589	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3		0.00	92	0	0	NM_001008408		155504070	+1			no_errors	ENST00000401878	ensembl	human	known	74_37	frame_shift_ins	8.89	82	8	INS	0.998:0.029	T
RBMXL1	494115	genome.wustl.edu	37	1	89449530	89449530	+	5'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:89449530C>T	ENST00000321792.5	-	0	407				CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'UTR|RBMXL1_ENST00000399794.2_5'UTR|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GCCGGTGAGTCGGAGGGGTGA	0.522											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													64.0	68.0	66.0					1																	89449530		2203	4299	6502	SO:0001623	5_prime_UTR_variant	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.-21G>A	1.37:g.89449530C>T		1267		RNA	SNP	-	NULL	ENST00000321792.5	37	NULL	CCDS716.1	1																																																																																			RBMXL1	-	-	ENSG00000213516		0.522	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	-	0.00	68	0	C	NM_019610		89449530	-1	tier1	-	no_errors	ENST00000413769	ensembl	human	known	74_37	rna	14.29	30	5	SNP	0.001	T
RBPJL	11317	genome.wustl.edu	37	20	43940969	43940969	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:43940969C>A	ENST00000343694.3	+	6	625	c.553C>A	c.(553-555)Cac>Aac	p.H185N	RBPJL_ENST00000372741.3_Missense_Mutation_p.H185N|RBPJL_ENST00000372743.1_Missense_Mutation_p.H185N	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	185					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GGGTACCTTCCACAGCCGCCT	0.642																																																	0													31.0	33.0	32.0					20																	43940969		2203	4299	6502	SO:0001583	missense	0			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.553C>A	20.37:g.43940969C>A	ENSP00000341243:p.His185Asn		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.H185N	ENST00000343694.3	37	c.553	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704629	0.30232	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.81996	-1.56;-1.56;-1.56	3.9	3.9	0.45041	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.158491	0.43579	D	0.000556	T	0.63988	0.2558	N	0.11341	0.13	0.39632	D	0.970194	B;B	0.25007	0.116;0.061	B;B	0.24974	0.057;0.031	T	0.59778	-0.7390	10	0.12766	T	0.61	-34.545	9.2567	0.37588	0.0:0.8994:0.0:0.1006	.	185;185	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	N	185	ENSP00000361828:H185N;ENSP00000361826:H185N;ENSP00000341243:H185N	ENSP00000341243:H185N	H	+	1	0	RBPJL	43374383	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.326000	0.43849	2.144000	0.66660	0.448000	0.29417	CAC	RBPJL	-	pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000124232		0.642	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	-	0.00	95	0	C	NM_014276		43940969	+1	tier1	-	no_errors	ENST00000343694	ensembl	human	known	74_37	missense	16.42	56	11	SNP	1.000	A
RCC2	55920	genome.wustl.edu	37	1	17749315	17749315	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:17749315G>T	ENST00000375436.4	-	5	728	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	RCC2_ENST00000375433.3_Missense_Mutation_p.Q181K	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	181					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		TGTCCCAGCTGCCCCTTCTCA	0.542																																																	0													86.0	71.0	76.0					1																	17749315		2203	4300	6503	SO:0001583	missense	0				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.541C>A	1.37:g.17749315G>T	ENSP00000364585:p.Gln181Lys		Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	p.Q181K	ENST00000375436.4	37	c.541	CCDS181.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022595	0.93462	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.90504	-2.68;-2.68	5.1	5.1	0.69264	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.95959	0.8684	M	0.88031	2.925	0.80722	D	1	D	0.59357	0.985	D	0.73708	0.981	D	0.96187	0.9135	10	0.56958	D	0.05	-27.3107	17.4474	0.87581	0.0:0.0:1.0:0.0	.	181	Q9P258	RCC2_HUMAN	K	181	ENSP00000364585:Q181K;ENSP00000364582:Q181K	ENSP00000364582:Q181K	Q	-	1	0	RCC2	17621902	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.711000	0.98735	2.546000	0.85860	0.555000	0.69702	CAG	RCC2	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	ENSG00000179051		0.542	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCC2	HGNC	protein_coding	OTTHUMT00000007144.1	-	0.00	67	0	G	NM_018715		17749315	-1	tier1	-	no_errors	ENST00000375433	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	T
RCE1	9986	genome.wustl.edu	37	11	66612465	66612465	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66612465C>A	ENST00000309657.3	+	5	621	c.577C>A	c.(577-579)Ctg>Atg	p.L193M	RCE1_ENST00000524506.1_Missense_Mutation_p.L193M|RCE1_ENST00000525356.1_Missense_Mutation_p.L70M	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	193					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGCATGGGCCTGGGCCCTGC	0.587																																																	0													55.0	48.0	50.0					11																	66612465		2200	4295	6495	SO:0001583	missense	0			AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.577C>A	11.37:g.66612465C>A	ENSP00000309163:p.Leu193Met		Q52LZ9	Missense_Mutation	SNP	pfam_CAAX_protease	p.L193M	ENST00000309657.3	37	c.577	CCDS8151.1	11	.	.	.	.	.	.	.	.	.	.	C	9.624	1.134625	0.21123	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	4.3	2.4	0.29515	.	0.083181	0.48767	D	0.000167	T	0.37210	0.0995	N	0.17594	0.5	0.30416	N	0.778579	D	0.62365	0.991	P	0.55011	0.766	T	0.35375	-0.9791	9	0.33141	T	0.24	-9.2156	11.6426	0.51242	0.0:0.836:0.0:0.164	.	193	Q9Y256	FACE2_HUMAN	M	193;193;70	.	ENSP00000309163:L193M	L	+	1	2	RCE1	66369041	0.981000	0.34729	0.929000	0.37066	0.207000	0.24258	2.539000	0.45718	0.198000	0.20407	-2.069000	0.00389	CTG	RCE1	-	pfam_CAAX_protease	ENSG00000173653		0.587	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCE1	HGNC	protein_coding	OTTHUMT00000393105.1		0.00	46	0	C	NM_005133		66612465	+1			no_errors	ENST00000309657	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
RCHY1	25898	genome.wustl.edu	37	4	76407852	76407852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:76407852G>A	ENST00000324439.5	-	9	1080	c.682C>T	c.(682-684)Cga>Tga	p.R228*	RCHY1_ENST00000380840.2_Nonsense_Mutation_p.R188*|RCHY1_ENST00000513257.1_Nonsense_Mutation_p.R219*|RCHY1_ENST00000512706.1_Nonsense_Mutation_p.R206*|RCHY1_ENST00000451788.1_3'UTR	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	228					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R228*(1)		large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGTGGATCGTCCATTACAG	0.338																																																	1	Substitution - Nonsense(1)	large_intestine(1)											89.0	86.0	87.0					4																	76407852		2203	4300	6503	SO:0001587	stop_gained	0			AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.682C>T	4.37:g.76407852G>A	ENSP00000321239:p.Arg228*		B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Nonsense_Mutation	SNP	pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R228*	ENST00000324439.5	37	c.682	CCDS3567.1	4	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680204	0.88542	.	.	ENSG00000163743	ENST00000324439;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	.	.	.	5.87	3.04	0.35103	.	0.054275	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-19.7569	4.8148	0.13362	0.1777:0.0:0.4283:0.394	.	.	.	.	X	228;188;206;219;179	.	ENSP00000321239:R228X	R	-	1	2	RCHY1	76626876	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	3.867000	0.56047	0.300000	0.22699	0.650000	0.86243	CGA	RCHY1	-	NULL	ENSG00000163743		0.338	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCHY1	HGNC	protein_coding	OTTHUMT00000252411.2	-	0.00	40	0	G	NM_015436		76407852	-1	tier1	-	no_errors	ENST00000324439	ensembl	human	known	74_37	nonsense	32.61	31	15	SNP	0.994	A
RDH5	5959	genome.wustl.edu	37	12	56117811	56117812	+	Frame_Shift_Ins	INS	-	-	G	rs62638191|rs199865350	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:56117811_56117812insG	ENST00000257895.5	+	4	863_864	c.711_712insG	c.(712-714)gggfs	p.G238fs	RDH5_ENST00000548082.1_Frame_Shift_Ins_p.G238fs|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000547072.1_Frame_Shift_Ins_p.G141fs	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	238			G -> W (in RPA; decreased stability; loss of enzymatic activity; accumulates in the perinuclear region; dbSNP:rs62638191). {ECO:0000269|PubMed:10369264, ECO:0000269|PubMed:10617778}.		phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)	p.A240fs*19(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	AGGCCCACTATGGGGGGGCCTT	0.604																																																	1	Insertion - Frameshift(1)	large_intestine(1)	GRCh37	CM991095	RDH5	M	rs62638191																																			SO:0001589	frameshift_variant	0			U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.718dupG	12.37:g.56117818_56117818dupG	ENSP00000257895:p.Gly238fs		O00179|Q8TAI2	Frame_Shift_Ins	INS	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.A239fs	ENST00000257895.5	37	c.711_712	CCDS31829.1	12																																																																																			RDH5	-	NULL	ENSG00000135437		0.604	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH5	HGNC	protein_coding	OTTHUMT00000407493.1		0.00	67	0	-	NM_002905		56117812	+1	tier1		no_errors	ENST00000257895	ensembl	human	known	74_37	frame_shift_ins	12.31	57	8	INS	0.947:1.000	G
RECK	8434	genome.wustl.edu	37	9	36066767	36066767	+	Intron	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:36066767C>A	ENST00000377966.3	+	6	971				RECK_ENST00000479053.1_Intron	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs						blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CTTCCATAGCCTGTCCTCCGT	0.413																																																	0																																										SO:0001627	intron_variant	0			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.405+1146C>A	9.37:g.36066767C>A			B2RNS1|Q5W0K6|Q8WX37	RNA	SNP	-	NULL	ENST00000377966.3	37	NULL	CCDS6597.1	9																																																																																			RECK	-	-	ENSG00000122707		0.413	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1	-	0.00	45	0	C			36066767	+1	tier1	-	no_errors	ENST00000475774	ensembl	human	known	74_37	rna	17.02	39	8	SNP	1.000	A
RECK	8434	genome.wustl.edu	37	9	36102113	36102113	+	Frame_Shift_Del	DEL	A	A	-	rs71508012		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:36102113delA	ENST00000377966.3	+	12	1887	c.1321delA	c.(1321-1323)aaafs	p.K442fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	442					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GGAGATTCTTAAAAAATGTGG	0.383																																																	0													103.0	104.0	103.0					9																	36102113		2203	4300	6503	SO:0001589	frameshift_variant	0			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1321delA	9.37:g.36102113delA	ENSP00000367202:p.Lys442fs		B2RNS1|Q5W0K6|Q8WX37	Frame_Shift_Del	DEL	pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom	p.K442fs	ENST00000377966.3	37	c.1321	CCDS6597.1	9																																																																																			RECK	-	NULL	ENSG00000122707		0.383	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1		0.00	85	0	A			36102113	+1	tier1		no_errors	ENST00000377966	ensembl	human	known	74_37	frame_shift_del	19.70	53	13	DEL	1.000	-
RELB	5971	genome.wustl.edu	37	19	45537526	45537526	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:45537526G>A	ENST00000221452.8	+	10	1382	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	RELB_ENST00000505236.1_Missense_Mutation_p.R408Q|RELB_ENST00000540120.1_Missense_Mutation_p.R411Q	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	411	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.			R -> A (in Ref. 1; AAA36127). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R411Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GACAAGAAGCGGAAACGGGGG	0.498																																																	1	Substitution - Missense(1)	ovary(1)											54.0	57.0	56.0					19																	45537526		1951	4146	6097	SO:0001583	missense	0			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1232G>A	19.37:g.45537526G>A	ENSP00000221452:p.Arg411Gln		Q6GTX7|Q9UEI7	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.R411Q	ENST00000221452.8	37	c.1232	CCDS46110.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557926	0.86231	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.38560	1.13;1.13;1.13	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000008	T	0.66557	0.2801	M	0.87758	2.905	0.48236	D	0.999615	D	0.89917	1.0	D	0.67900	0.954	T	0.72887	-0.4156	10	0.87932	D	0	-8.3957	13.2639	0.60122	0.0:0.0:1.0:0.0	.	408	D6R992	.	Q	411;411;408	ENSP00000221452:R411Q;ENSP00000445542:R411Q;ENSP00000423287:R408Q	ENSP00000221452:R411Q	R	+	2	0	RELB	50229366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.828000	0.62730	2.501000	0.84356	0.563000	0.77884	CGG	RELB	-	superfamily_Ig_E-set	ENSG00000104856		0.498	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	-	0.00	125	0	G			45537526	+1	tier1	-	no_errors	ENST00000221452	ensembl	human	known	74_37	missense	25.35	105	36	SNP	1.000	A
RELN	5649	genome.wustl.edu	37	7	103137131	103137131	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:103137131G>A	ENST00000428762.1	-	56	9194	c.9035C>T	c.(9034-9036)gCc>gTc	p.A3012V	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.A3012V|RELN_ENST00000343529.5_Missense_Mutation_p.A3012V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3012					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTGGTGAGGGCATCTTCAGG	0.458																																					NSCLC(146;835 1944 15585 22231 52158)												0													122.0	104.0	110.0					7																	103137131		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9035C>T	7.37:g.103137131G>A	ENSP00000392423:p.Ala3012Val		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.A3012V	ENST00000428762.1	37	c.9035	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699664	0.88830	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.34667	1.35;1.35;1.35	5.94	5.94	0.96194	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.978	T	0.64257	-0.6450	10	0.56958	D	0.05	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	3012;3012	P78509-2;P78509	.;RELN_HUMAN	V	3012;3012;3012;529;3012	ENSP00000392423:A3012V;ENSP00000345694:A3012V;ENSP00000388446:A3012V	ENSP00000345694:A3012V	A	-	2	0	RELN	102924367	1.000000	0.71417	0.103000	0.21229	0.526000	0.34562	9.476000	0.97823	2.820000	0.97059	0.650000	0.86243	GCC	RELN	-	superfamily_Sialidases	ENSG00000189056		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0.00	51	0	G	NM_005045		103137131	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.999	A
RELN	5649	genome.wustl.edu	37	7	103629675	103629675	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:103629675G>A	ENST00000428762.1	-	1	288	c.129C>T	c.(127-129)caC>caT	p.H43H	RELN_ENST00000424685.2_Silent_p.H43H|RELN_ENST00000343529.5_Silent_p.H43H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	43	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAGCTCCCCGTGGTGGGTGC	0.622																																					NSCLC(146;835 1944 15585 22231 52158)												0													44.0	46.0	45.0					7																	103629675		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.129C>T	7.37:g.103629675G>A			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.H43	ENST00000428762.1	37	c.129	CCDS47680.1	7																																																																																			RELN	-	pfscan_Reeler_dom	ENSG00000189056		0.622	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0.00	77	0	G	NM_005045		103629675	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	silent	16.83	84	17	SNP	1.000	A
REM1	28954	genome.wustl.edu	37	20	30072036	30072036	+	Missense_Mutation	SNP	G	G	A	rs61759895		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:30072036G>A	ENST00000201979.2	+	5	993	c.700G>A	c.(700-702)Gag>Aag	p.E234K	LINC00028_ENST00000435497.1_lincRNA	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	234					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAATGTGGCCGAGCTCTTCGA	0.701																																																	0													15.0	16.0	16.0					20																	30072036		2194	4283	6477	SO:0001583	missense	0			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.700G>A	20.37:g.30072036G>A	ENSP00000201979:p.Glu234Lys		E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E234K	ENST00000201979.2	37	c.700	CCDS13181.1	20	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010230	0.93346	.	.	ENSG00000088320	ENST00000201979	D	0.82081	-1.57	5.02	5.02	0.67125	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87341	0.6153	M	0.65975	2.015	0.80722	D	1	P	0.52842	0.956	P	0.52856	0.711	D	0.88842	0.3313	10	0.72032	D	0.01	.	17.5014	0.87733	0.0:0.0:1.0:0.0	.	234	O75628	REM1_HUMAN	K	234	ENSP00000201979:E234K	ENSP00000201979:E234K	E	+	1	0	REM1	29535697	1.000000	0.71417	0.955000	0.39395	0.561000	0.35649	9.112000	0.94314	2.585000	0.87301	0.561000	0.74099	GAG	REM1	-	pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000088320		0.701	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REM1	HGNC	protein_coding	OTTHUMT00000078508.2	-	0.00	11	0	G	NM_014012		30072036	+1	tier1	-	no_errors	ENST00000201979	ensembl	human	known	74_37	missense	40.00	9	6	SNP	1.000	A
RERE	473	genome.wustl.edu	37	1	8419873	8419873	+	Missense_Mutation	SNP	T	T	C	rs147985313|rs376434590	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:8419873T>C	ENST00000337907.3	-	20	4203	c.3569A>G	c.(3568-3570)aAg>aGg	p.K1190R	RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.K922R|RERE_ENST00000400908.2_Missense_Mutation_p.K1190R|RERE_ENST00000476556.1_Missense_Mutation_p.K636R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1190	Arg/Glu-rich (mixed charge).				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ctcccgctccttctccttctc	0.677													T|||	27	0.00539137	0.0083	0.0043	5008	,	,		15766	0.0089		0.003	False		,,,				2504	0.001																0								T	ARG/LYS,ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	33.0	33.0	33.0		3569,1907,3569	5.4	1.0	1		33	0,8600		0,0,4300	no	missense,missense,missense	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	26,26,26	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1190/1567,636/1013,1190/1567	8419873	1,13005	2203	4300	6503	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3569A>G	1.37:g.8419873T>C	ENSP00000338629:p.Lys1190Arg		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.K1190R	ENST00000337907.3	37	c.3569	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.264258	0.23136	2.27E-4	0.0	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.76060	-0.99;4.18;4.18;-0.99	5.42	5.42	0.78866	.	.	.	.	.	T	0.58061	0.2096	L	0.33668	1.02	0.39213	D	0.963359	B	0.27416	0.178	B	0.30316	0.114	T	0.53222	-0.8469	9	0.07325	T	0.83	-13.3852	6.6534	0.22975	0.0:0.0791:0.1554:0.7655	.	1190	Q9P2R6	RERE_HUMAN	R	1190;922;636;1190	ENSP00000338629:K1190R;ENSP00000366684:K922R;ENSP00000422246:K636R;ENSP00000383700:K1190R	ENSP00000338629:K1190R	K	-	2	0	RERE	8342460	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	5.886000	0.69743	2.039000	0.60335	0.533000	0.62120	AAG	RERE	-	pfam_Atrophin-like	ENSG00000142599		0.677	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1		0.00	89	0	T			8419873	-1			no_errors	ENST00000337907	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	C
RERE	473	genome.wustl.edu	37	1	8555155	8555155	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:8555155G>A	ENST00000337907.3	-	11	1706	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	RERE_ENST00000400907.2_Missense_Mutation_p.R358W|RERE_ENST00000377464.1_Missense_Mutation_p.R90W|RERE_ENST00000400908.2_Missense_Mutation_p.R358W	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	358	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTGTCATCCCGAGAGGCTGCG	0.488																																																	0													211.0	212.0	212.0					1																	8555155		2203	4300	6503	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1072C>T	1.37:g.8555155G>A	ENSP00000338629:p.Arg358Trp		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.R358W	ENST00000337907.3	37	c.1072	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677670	0.68042	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.83	4.91	0.64330	ELM2 domain (1);	.	.	.	.	T	0.51109	0.1655	M	0.88450	2.955	0.80722	D	1	B;B	0.23128	0.08;0.008	B;B	0.15052	0.012;0.0	T	0.56637	-0.7946	9	0.87932	D	0	-12.5837	13.9613	0.64182	0.0743:0.0:0.9257:0.0	.	90;358	B1AKN3;Q9P2R6	.;RERE_HUMAN	W	358;90;358;358	ENSP00000338629:R358W;ENSP00000366684:R90W;ENSP00000383699:R358W;ENSP00000383700:R358W	ENSP00000338629:R358W	R	-	1	2	RERE	8477742	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.176000	0.65026	1.446000	0.47643	0.561000	0.74099	CGG	RERE	-	pfscan_ELM2_dom	ENSG00000142599		0.488	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	-	0.00	48	0	G			8555155	-1	tier1	-	no_errors	ENST00000337907	ensembl	human	known	74_37	missense	17.50	33	7	SNP	1.000	A
RFX2	5990	genome.wustl.edu	37	19	6013117	6013117	+	Splice_Site	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6013117C>A	ENST00000303657.5	-	8	929		c.e8-1		CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Splice_Site|RFX2_ENST00000592546.1_Splice_Site	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGAGTTGCCCCTGGAAACCAA	0.493																																					Colon(38;171 817 19800 47433 48051)												0													107.0	100.0	102.0					19																	6013117		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.780-1G>T	19.37:g.6013117C>A			A8K581|B3KNC4|Q6IQ44|Q8SNA2	Splice_Site	SNP	-	e7-1	ENST00000303657.5	37	c.780-1	CCDS12157.1	19	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557524	0.86231	.	.	ENSG00000087903	ENST00000303657;ENST00000359161	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7199	0.85407	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFX2	5964117	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.616000	0.83018	2.356000	0.79943	0.557000	0.71058	.	RFX2	-	-	ENSG00000087903		0.493	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1	-	0.00	39	0	C	NM_000635	Intron	6013117	-1	tier1	-	no_errors	ENST00000303657	ensembl	human	known	74_37	splice_site	9.52	38	4	SNP	1.000	A
RFX2	5990	genome.wustl.edu	37	19	6026217	6026218	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6026217_6026218insT	ENST00000303657.5	-	6	702_703	c.553_554insA	c.(553-555)agcfs	p.S185fs	RFX2_ENST00000359161.3_Frame_Shift_Ins_p.S185fs|RFX2_ENST00000592546.1_Intron	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GATTCCTTCGCTTTTTTGGAGG	0.401																																					Colon(38;171 817 19800 47433 48051)												0																																										SO:0001589	frameshift_variant	0				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.554dupA	19.37:g.6026223_6026223dupT	ENSP00000306335:p.Ser185fs		A8K581|B3KNC4|Q6IQ44|Q8SNA2	Frame_Shift_Ins	INS	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.S185fs	ENST00000303657.5	37	c.554_553	CCDS12157.1	19																																																																																			RFX2	-	NULL	ENSG00000087903		0.401	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1		0.00	116	0	-	NM_000635		6026218	-1	tier1		no_errors	ENST00000303657	ensembl	human	known	74_37	frame_shift_ins	13.92	68	11	INS	0.999:1.000	T
RFX1	5989	genome.wustl.edu	37	19	14104410	14104410	+	Silent	SNP	G	G	A	rs376204922		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14104410G>A	ENST00000254325.4	-	2	480	c.246C>T	c.(244-246)ccC>ccT	p.P82P		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	82					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)			GCGAGGGTGCGGGTACAGCCG	0.662																																																	0								G		0,4406		0,0,2203	44.0	36.0	38.0		246	-2.9	0.8	19		38	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RFX1	NM_002918.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		82/980	14104410	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	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.246C>T	19.37:g.14104410G>A				Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.P82	ENST00000254325.4	37	c.246	CCDS12301.1	19																																																																																			RFX1	-	NULL	ENSG00000132005		0.662	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	HGNC	protein_coding	OTTHUMT00000458510.1	-	0.00	100	0	G	NM_002918		14104410	-1	tier1	-	no_errors	ENST00000254325	ensembl	human	known	74_37	silent	24.49	73	24	SNP	0.363	A
RFX5	5993	genome.wustl.edu	37	1	151318680	151318680	+	Splice_Site	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:151318680C>T	ENST00000290524.4	-	3	295		c.e3+1		RFX5_ENST00000478564.1_Splice_Site|RFX5_ENST00000452671.2_Splice_Site|RFX5_ENST00000368870.2_Splice_Site|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000452513.2_Splice_Site	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGTACTTACGAAATGGTAC	0.552																																																	0													115.0	116.0	116.0					1																	151318680		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.116+1G>A	1.37:g.151318680C>T			B7Z848|D3DV19|E9PFU4|Q5VWC3	Splice_Site	SNP	-	e1+1	ENST00000290524.4	37	c.116+1	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328399	0.81690	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595;ENST00000450506;ENST00000458484;ENST00000430227;ENST00000412774;ENST00000437327;ENST00000436271	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6052	0.62044	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFX5	149585304	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.841000	0.55850	2.591000	0.87537	0.491000	0.48974	.	RFX5	-	-	ENSG00000143390		0.552	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6	-	0.00	56	0	C	NM_000449	Intron	151318680	-1	tier1	-	no_errors	ENST00000290524	ensembl	human	known	74_37	splice_site	19.70	53	13	SNP	1.000	T
RGPD3	653489	genome.wustl.edu	37	2	107040056	107040056	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:107040056G>A	ENST00000409886.3	-	20	4454	c.4367C>T	c.(4366-4368)tCg>tTg	p.S1456L	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1456L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1456	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTTAAACGAGTCTGCAAC	0.398																																																	0													3.0	2.0	3.0					2																	107040056		603	1280	1883	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4367C>T	2.37:g.107040056G>A	ENSP00000386588:p.Ser1456Leu		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S1456L	ENST00000409886.3	37	c.4367	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	0.485	-0.878172	0.02550	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.44881	0.91;0.91	2.35	2.35	0.29111	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.17534	0.0421	N	0.03177	-0.4	0.09310	N	1	B	0.28258	0.205	B	0.23852	0.049	T	0.10917	-1.0609	9	0.38643	T	0.18	-10.2208	5.0894	0.14700	0.1765:0.0:0.8235:0.0	.	1456	A6NKT7	RGPD3_HUMAN	L	1456	ENSP00000386588:S1456L;ENSP00000303659:S1456L	ENSP00000303659:S1456L	S	-	2	0	RGPD3	106406488	0.930000	0.31532	0.999000	0.59377	0.269000	0.26545	2.675000	0.46875	1.314000	0.45095	0.186000	0.17326	TCG	RGPD3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000153165		0.398	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	-	0.00	52	0	G	XM_929931		107040056	-1	tier1	-	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	20.75	42	11	SNP	0.273	A
RGS12	6002	genome.wustl.edu	37	4	3344181	3344181	+	Intron	SNP	C	C	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:3344181C>G	ENST00000344733.5	+	3	2785				RGS12_ENST00000336727.3_Intron|RGS12_ENST00000543385.1_Intron|RGS12_ENST00000382788.3_Intron|RGS12_ENST00000306648.7_5'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12						positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTTCAGACACCAGCTGAATG	0.408																																																	0																																										SO:0001627	intron_variant	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1882-483C>G	4.37:g.3344181C>G			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	RNA	SNP	-	NULL	ENST00000344733.5	37	NULL	CCDS3366.1	4																																																																																			RGS12	-	-	ENSG00000159788		0.408	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	-	0.00	47	0	C	NM_002926		3344181	+1	tier1	-	no_errors	ENST00000513784	ensembl	human	known	74_37	rna	14.58	41	7	SNP	0.033	G
RGS12	6002	genome.wustl.edu	37	4	3432431	3432431	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:3432431delC	ENST00000344733.5	+	17	4767	c.3863delC	c.(3862-3864)accfs	p.T1288fs	RGS12_ENST00000338806.4_Frame_Shift_Del_p.T640fs|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000382788.3_Frame_Shift_Del_p.T1288fs|RGS12_ENST00000336727.3_Frame_Shift_Del_p.T1288fs	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1288					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGGGACGACCCCCCCCGGG	0.716																																																	0									,,	42,83,3921		1,0,40,2,79,1901	8.0	10.0	9.0		,,	-0.8	0.0	4		9	90,200,7674		3,0,84,6,188,3701	no	codingComplex,codingComplex,codingComplex	RGS12	NM_198229.2,NM_198227.1,NM_002926.3	,,	4,0,124,8,267,5602	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6414,3.0895,3.4555	,,	,,	3432431	132,283,11595	2152	4241	6393	SO:0001589	frameshift_variant	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3863delC	4.37:g.3432431delC	ENSP00000339381:p.Thr1288fs		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.1292fs	ENST00000344733.5	37	c.3863	CCDS3366.1	4																																																																																			RGS12	-	NULL	ENSG00000159788		0.716	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1		0.00	36	0	C	NM_002926		3432431	+1	tier1		no_errors	ENST00000344733	ensembl	human	known	74_37	frame_shift_del	15.62	27	5	DEL	0.000	-
RHBDD2	57414	genome.wustl.edu	37	7	75512837	75512837	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:75512837delA	ENST00000006777.6	+	3	721				RHBDD2_ENST00000428119.1_Intron|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_Intron	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2							Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						actccatctcaaaaaaaaaaa	0.532																																																	0																																										SO:0001627	intron_variant	0			AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.587-179A>-	7.37:g.75512837delA			Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	RNA	DEL	-	NULL	ENST00000006777.6	37	NULL	CCDS43602.1	7																																																																																			RHBDD2	-	-	ENSG00000005486		0.532	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD2	HGNC	protein_coding	OTTHUMT00000344176.1		0.00	19	0	A	NM_020684		75512837	+1	tier1		no_errors	ENST00000467406	ensembl	human	putative	74_37	rna	25.00	12	4	DEL	0.010	-
RHOBTB2	23221	genome.wustl.edu	37	8	22862121	22862121	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:22862121A>G	ENST00000251822.6	+	2	711	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.Q65Q|RHOBTB2_ENST00000519685.1_Silent_p.Q80Q|RHOBTB2_ENST00000523918.1_3'UTR|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	58	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCATCGACCAATATCGTGTGT	0.612											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61.0	54.0	56.0					8																	22862121		2203	4300	6503	SO:0001819	synonymous_variant	0			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.174A>G	8.37:g.22862121A>G		759	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.Q58	ENST00000251822.6	37	c.174	CCDS6034.1	8																																																																																			RHOBTB2	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho	ENSG00000008853		0.612	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	-	0.00	32	0	A			22862121	+1	tier1	-	no_errors	ENST00000251822	ensembl	human	known	74_37	silent	14.29	30	5	SNP	1.000	G
RIC3	79608	genome.wustl.edu	37	11	8160039	8160039	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:8160039delA	ENST00000309737.6	-	3	351				RIC3_ENST00000539720.1_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000343202.4_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone						cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GAAATAGCTCAAAAAAAAAAA	0.328																																																	0																																										SO:0001627	intron_variant	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.352-145T>-	11.37:g.8160039delA			B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	RNA	DEL	-	NULL	ENST00000309737.6	37	NULL	CCDS55742.1	11																																																																																			RIC3	-	-	ENSG00000166405		0.328	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1		0.00	14	0	A	NM_024557		8160039	-1	tier1		no_errors	ENST00000524799	ensembl	human	known	74_37	rna	44.44	5	4	DEL	0.000	-
RIC3	79608	genome.wustl.edu	37	11	8161539	8161539	+	Frame_Shift_Del	DEL	A	A	-	rs267603218		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:8161539delA	ENST00000309737.6	-	2	325	c.326delT	c.(325-327)ttafs	p.L109fs	RIC3_ENST00000539720.1_Frame_Shift_Del_p.L60fs|RIC3_ENST00000425599.2_Frame_Shift_Del_p.L109fs|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'Flank|RIC3_ENST00000343202.4_Frame_Shift_Del_p.L109fs|RIC3_ENST00000419822.2_Frame_Shift_Del_p.L109fs			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	109					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGTATATATAAAAAAATCCC	0.353																																																	0													64.0	76.0	72.0					11																	8161539		2201	4296	6497	SO:0001589	frameshift_variant	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.326delT	11.37:g.8161539delA	ENSP00000308820:p.Leu109fs		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Frame_Shift_Del	DEL	NULL	p.L109fs	ENST00000309737.6	37	c.326	CCDS55742.1	11																																																																																			RIC3	-	NULL	ENSG00000166405		0.353	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1		0.00	82	0	A	NM_024557		8161539	-1	tier1		no_errors	ENST00000309737	ensembl	human	known	74_37	frame_shift_del	23.26	66	20	DEL	1.000	-
RICTOR	253260	genome.wustl.edu	37	5	38954826	38954826	+	5'UTR	DEL	T	T	-	rs190666602	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:38954826delT	ENST00000503698.1	-	0	754				RICTOR_ENST00000357387.3_Intron|RICTOR_ENST00000296782.5_Intron					RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TAAGATTTTGTTTTTTTTTTA	0.274																																																	0										610,31,4,3621		43,0,0,524,4,0,23,0,4,1535	48.0	49.0	49.0			-2.5	0.0	5	dbSNP_130	49	132,49,2,8069		1,0,0,130,2,0,45,0,2,3946	no	intron	RICTOR	NM_152756.3		44,0,0,654,6,0,68,0,6,5481	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.2176,15.1195,6.6145			38954826	742,80,6,11690	2203	4300	6503	SO:0001623	5_prime_UTR_variant	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000503698.1:c.-26A>-	5.37:g.38954826delT				RNA	DEL	-	NULL	ENST00000503698.1	37	NULL		5																																																																																			RICTOR	-	-	ENSG00000164327		0.274	RICTOR-009	KNOWN	basic	processed_transcript	RICTOR	HGNC	protein_coding	OTTHUMT00000366993.1		0.00	25	0	T	NM_152756		38954826	-1	tier1		no_errors	ENST00000503698	ensembl	human	known	74_37	rna	34.38	21	11	DEL	0.000	-
RIMBP2	23504	genome.wustl.edu	37	12	130926638	130926638	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:130926638G>A	ENST00000261655.4	-	8	1371	c.1208C>T	c.(1207-1209)aCg>aTg	p.T403M	RIMBP2_ENST00000536002.1_Missense_Mutation_p.T311M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T311M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	403	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGAGATCTGCGTGATGTTGTC	0.637																																																	0													102.0	77.0	85.0					12																	130926638		2203	4300	6503	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1208C>T	12.37:g.130926638G>A	ENSP00000261655:p.Thr403Met		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.T403M	ENST00000261655.4	37	c.1208	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	g	18.61	3.661600	0.67700	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.57436	0.4;0.4;0.4	4.23	4.23	0.50019	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	M	0.77486	2.375	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.959;0.982;0.996	T	0.78874	-0.2032	10	0.87932	D	0	-25.6129	16.6129	0.84899	0.0:0.0:1.0:0.0	.	311;311;403	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	M	403;311;311;311	ENSP00000261655:T403M;ENSP00000440347:T311M;ENSP00000439159:T311M	ENSP00000261655:T403M	T	-	2	0	RIMBP2	129492591	1.000000	0.71417	0.971000	0.41717	0.831000	0.47069	6.756000	0.74919	1.867000	0.54127	0.537000	0.68136	ACG	RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000060709		0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0.00	56	0	G	NM_015347		130926638	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.998	A
RIMS1	22999	genome.wustl.edu	37	6	72596814	72596814	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:72596814G>A	ENST00000521978.1	+	1	88	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	RIMS1_ENST00000517960.1_Missense_Mutation_p.E30K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E30K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E30K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E30K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E30K|RIMS1_ENST00000264839.7_Missense_Mutation_p.E30K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E30K	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	30	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCACCTGACCGAAGAGGAGAG	0.627																																																	0													37.0	45.0	42.0					6																	72596814		2076	4198	6274	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.88G>A	6.37:g.72596814G>A	ENSP00000428417:p.Glu30Lys		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.E30K	ENST00000521978.1	37	c.88	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	g	17.95	3.514473	0.64522	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	4.96	3.17	0.36434	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.272984	0.23076	N	0.052206	T	0.82116	0.4967	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82178	-0.0586	10	0.59425	D	0.04	-6.6415	8.8201	0.35020	0.0786:0.0:0.7712:0.1502	.	30	Q86UR5	RIMS1_HUMAN	K	30	ENSP00000430101:E30K;ENSP00000275037:E30K;ENSP00000264839:E30K;ENSP00000429959:E30K;ENSP00000430408:E30K;ENSP00000430502:E30K;ENSP00000430932:E30K;ENSP00000428417:E30K	ENSP00000264839:E30K	E	+	1	0	RIMS1	72653535	1.000000	0.71417	0.997000	0.53966	0.622000	0.37654	7.463000	0.80869	0.512000	0.28257	-0.226000	0.12346	GAA	RIMS1	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000079841		0.627	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	131	0	G			72596814	+1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	12.03	117	16	SNP	1.000	A
RIMS1	22999	genome.wustl.edu	37	6	72892166	72892166	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:72892166C>T	ENST00000521978.1	+	6	992	c.992C>T	c.(991-993)cCg>cTg	p.P331L	RIMS1_ENST00000517960.1_Missense_Mutation_p.P331L|RIMS1_ENST00000522291.1_Missense_Mutation_p.P331L|RIMS1_ENST00000348717.5_Missense_Mutation_p.P331L|RIMS1_ENST00000491071.2_Missense_Mutation_p.P331L|RIMS1_ENST00000520567.1_Missense_Mutation_p.P331L|RIMS1_ENST00000264839.7_Missense_Mutation_p.P331L|RIMS1_ENST00000518273.1_Missense_Mutation_p.P331L	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	331					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAGACACGCCGGAAAAACGG	0.587																																																	0													37.0	45.0	42.0					6																	72892166		1954	4145	6099	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.992C>T	6.37:g.72892166C>T	ENSP00000428417:p.Pro331Leu		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.P331L	ENST00000521978.1	37	c.992	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	3.371	-0.128377	0.06753	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.15139	2.45;2.6;2.54;2.59;2.59;2.61;2.6;2.52	4.64	2.77	0.32553	.	0.105802	0.40728	N	0.001030	T	0.04497	0.0123	N	0.25647	0.755	0.80722	D	1	B	0.23377	0.084	B	0.11329	0.006	T	0.23190	-1.0195	10	0.44086	T	0.13	-0.1842	10.0322	0.42107	0.0:0.7846:0.138:0.0774	.	331	Q86UR5	RIMS1_HUMAN	L	331	ENSP00000430101:P331L;ENSP00000275037:P331L;ENSP00000264839:P331L;ENSP00000429959:P331L;ENSP00000430408:P331L;ENSP00000430502:P331L;ENSP00000430932:P331L;ENSP00000428417:P331L	ENSP00000264839:P331L	P	+	2	0	RIMS1	72948887	0.966000	0.33281	0.027000	0.17364	0.018000	0.09664	2.324000	0.43831	0.336000	0.23639	0.462000	0.41574	CCG	RIMS1	-	NULL	ENSG00000079841		0.587	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	43	0	C			72892166	+1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.888	T
RIMS1	22999	genome.wustl.edu	37	6	73110999	73110999	+	IGR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:73110999delA	ENST00000521978.1	+	0	5079				RIMS1_ENST00000414192.2_3'UTR|RIMS1_ENST00000348717.5_3'UTR|RIMS1_ENST00000264839.7_3'UTR|RIMS1_ENST00000431478.2_3'UTR	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAAAGCACCAAAAAAAAGGG	0.393																																																	0																																										SO:0001628	intergenic_variant	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009		6.37:g.73110999delA			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	RNA	DEL	-	NULL	ENST00000521978.1	37	NULL	CCDS47449.1	6																																																																																			RIMS1	-	-	ENSG00000079841		0.393	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1		0.00	19	0	A			73110999	+1	tier1		no_errors	ENST00000431478	ensembl	human	known	74_37	rna	30.00	14	6	DEL	0.049	-
RIN1	9610	genome.wustl.edu	37	11	66100117	66100117	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66100117G>A	ENST00000311320.4	-	10	2108	c.1982C>T	c.(1981-1983)aCc>aTc	p.T661I	RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000424433.2_Missense_Mutation_p.T556I|RIN1_ENST00000530056.1_Missense_Mutation_p.T495I|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	661	Ras and 14-3-3 protein binding region.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCGGAACTTGGTGGCACAGAG	0.647																																																	0													107.0	113.0	111.0					11																	66100117		2200	4295	6495	SO:0001583	missense	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1982C>T	11.37:g.66100117G>A	ENSP00000310406:p.Thr661Ile		O15010|Q00427|Q96CC8	Missense_Mutation	SNP	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.T661I	ENST00000311320.4	37	c.1982	CCDS31614.1	11	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450608	0.63290	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.17854	2.25;2.25;2.25	5.03	4.11	0.48088	Ras-association (3);	0.899644	0.09615	N	0.778335	T	0.30541	0.0768	L	0.51422	1.61	0.28930	N	0.891647	P;D;P	0.61697	0.472;0.99;0.472	P;P;P	0.57846	0.636;0.828;0.636	T	0.08411	-1.0723	10	0.34782	T	0.22	-27.7741	11.2036	0.48756	0.0:0.0:0.8164:0.1836	.	495;292;661	E9PNR2;B4DW96;Q13671	.;.;RIN1_HUMAN	I	661;556;495	ENSP00000310406:T661I;ENSP00000400560:T556I;ENSP00000432798:T495I	ENSP00000310406:T661I	T	-	2	0	RIN1	65856693	0.990000	0.36364	1.000000	0.80357	0.995000	0.86356	0.857000	0.27831	1.238000	0.43771	0.462000	0.41574	ACC	RIN1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000174791		0.647	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	-	0.00	60	0	G	NM_004292		66100117	-1	tier1	-	no_errors	ENST00000311320	ensembl	human	known	74_37	missense	35.94	41	23	SNP	0.981	A
RIOK1	83732	genome.wustl.edu	37	6	7398932	7398932	+	Splice_Site	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:7398932T>A	ENST00000379834.2	+	5	946	c.439T>A	c.(439-441)Tat>Aat	p.Y147N		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	147							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TTTGGTTAGGTATCGCATCAA	0.318																																																	0													217.0	210.0	212.0					6																	7398932		2203	4300	6503	SO:0001630	splice_region_variant	0			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.438-1T>A	6.37:g.7398932T>A			B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	p.Y147N	ENST00000379834.2	37	c.439	CCDS4500.1	6	.	.	.	.	.	.	.	.	.	.	T	15.41	2.826212	0.50739	.	.	ENSG00000124784	ENST00000379834	T	0.05319	3.46	5.05	5.05	0.67936	.	0.196582	0.45606	D	0.000353	T	0.02533	0.0077	L	0.33485	1.01	0.58432	D	0.999998	B	0.13145	0.007	B	0.14023	0.01	T	0.43343	-0.9397	10	0.28530	T	0.3	-8.5851	14.2685	0.66138	0.0:0.0:0.0:1.0	.	147	Q9BRS2	RIOK1_HUMAN	N	147	ENSP00000369162:Y147N	ENSP00000369162:Y147N	Y	+	1	0	RIOK1	7343931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.991000	0.70602	2.014000	0.59158	0.482000	0.46254	TAT	RIOK1	-	pirsf_Ser/Thr_kinase_Rio1	ENSG00000124784		0.318	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK1	HGNC	protein_coding	OTTHUMT00000039780.2	-	0.00	66	0	T	NM_031480	Missense_Mutation	7398932	+1	tier1	-	no_errors	ENST00000379834	ensembl	human	known	74_37	missense	11.11	64	8	SNP	1.000	A
RMDN3	55177	genome.wustl.edu	37	15	41029894	41029894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:41029894delT	ENST00000260385.6	-	9	2223	c.1156delA	c.(1156-1158)actfs	p.T386fs	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Del_p.T386fs			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	386					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GCTGTAGCAGTTTTTTTTTCT	0.448																																																	0													49.0	50.0	50.0					15																	41029894		2203	4300	6503	SO:0001589	frameshift_variant	0			AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1156delA	15.37:g.41029894delT	ENSP00000260385:p.Thr386fs		A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Del	DEL	NULL	p.T386fs	ENST00000260385.6	37	c.1156	CCDS10063.1	15																																																																																			RMDN3	-	NULL	ENSG00000137824		0.448	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMDN3	HGNC	protein_coding	OTTHUMT00000252357.1		0.00	90	0	T	NM_018145		41029894	-1	tier1		no_errors	ENST00000260385	ensembl	human	known	74_37	frame_shift_del	14.10	67	11	DEL	1.000	-
CTC-457E21.6	0	genome.wustl.edu	37	19	22784509	22784509	+	RNA	DEL	A	A	-	rs34342142|rs79972208		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:22784509delA	ENST00000599738.1	+	0	0				RN7SL860P_ENST00000473738.2_RNA|CTC-457E21.3_ENST00000600260.1_RNA|AC011467.1_ENST00000408863.1_RNA																							tttggttctcaaaaaaaaaat	0.507																																																	0																																												0																															19.37:g.22784509delA				RNA	DEL	-	NULL	ENST00000599738.1	37	NULL		19																																																																																			RN7SL860P	-	-	ENSG00000240713		0.507	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	RN7SL860P	HGNC	processed_transcript	OTTHUMT00000464575.1		0.00	21	0	A			22784509	+1	tier1		no_errors	ENST00000473738	ensembl	human	known	74_37	rna	37.93	18	11	DEL	0.037	-
RNASE11	122651	genome.wustl.edu	37	14	21052229	21052229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:21052229delG	ENST00000610205.1	-	3	588	c.405delC	c.(403-405)cccfs	p.P135fs	RNASE11_ENST00000398009.2_Frame_Shift_Del_p.P135fs|RNASE11_ENST00000398008.2_Frame_Shift_Del_p.P135fs|RNASE11_ENST00000553849.1_Frame_Shift_Del_p.P135fs|RNASE11_ENST00000432835.2_Frame_Shift_Del_p.P135fs|RNASE11_ENST00000555841.1_Frame_Shift_Del_p.P135fs	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	135						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)		ACTTGCAGCTGGGGGCCCTGT	0.507																																																	0													72.0	64.0	67.0					14																	21052229		2203	4299	6502	SO:0001589	frameshift_variant	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.405delC	14.37:g.21052229delG	ENSP00000476537:p.Pro135fs			Frame_Shift_Del	DEL	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.S136fs	ENST00000610205.1	37	c.405	CCDS9553.1	14																																																																																			RNASE11	-	pfam_RNaseA_domain,superfamily_RNaseA_domain	ENSG00000173464		0.507	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE11	HGNC	protein_coding	OTTHUMT00000073662.3		0.00	58	0	G	NM_145250		21052229	-1	tier1		no_errors	ENST00000398008	ensembl	human	known	74_37	frame_shift_del	23.40	36	11	DEL	0.002	-
RND3	390	genome.wustl.edu	37	2	151326627	151326630	+	Frame_Shift_Del	DEL	TTTA	TTTA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTTA	TTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:151326627_151326630delTTTA	ENST00000375734.2	-	5	855_858	c.606_609delTAAA	c.(604-609)aataaafs	p.NK202fs	RND3_ENST00000472416.1_5'Flank|RND3_ENST00000409557.1_Frame_Shift_Del_p.NK73fs|RND3_ENST00000263895.4_Frame_Shift_Del_p.NK202fs	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	202					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GCTTAACGTTTTTATTTGTCTTAT	0.441																																																	0																																										SO:0001589	frameshift_variant	0				CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.606_609delTAAA	2.37:g.151326627_151326630delTTTA	ENSP00000364886:p.Asn202fs		D3DP95|P52199	Frame_Shift_Del	DEL	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.N202fs	ENST00000375734.2	37	c.609_606	CCDS2190.1	2																																																																																			RND3	-	NULL	ENSG00000115963		0.441	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RND3	HGNC	protein_coding	OTTHUMT00000254809.1		0.00	44	0	TTTA	NM_005168		151326630	-1	tier1		no_errors	ENST00000263895	ensembl	human	known	74_37	frame_shift_del	13.51	32	5	DEL	1.000:1.000:1.000:1.000	-
RNF123	63891	genome.wustl.edu	37	3	49736506	49736506	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:49736506C>T	ENST00000327697.6	+	10	876	c.732C>T	c.(730-732)tcC>tcT	p.S244S	RNF123_ENST00000432042.1_Silent_p.S98S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	244	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCAAGGAGTCCGTGGCCTTCA	0.582																																																	0													83.0	83.0	83.0					3																	49736506		2202	4300	6502	SO:0001819	synonymous_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.732C>T	3.37:g.49736506C>T			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.S244	ENST00000327697.6	37	c.732	CCDS33758.1	3																																																																																			RNF123	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000164068		0.582	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	-	0.00	35	0	C	NM_022064		49736506	+1	tier1	-	no_errors	ENST00000327697	ensembl	human	known	74_37	silent	21.43	33	9	SNP	0.908	T
RNF123	63891	genome.wustl.edu	37	3	49739823	49739823	+	Silent	SNP	C	C	T	rs375257714	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:49739823C>T	ENST00000327697.6	+	19	1758	c.1614C>T	c.(1612-1614)aaC>aaT	p.N538N	RNF123_ENST00000432042.1_Silent_p.N392N	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	538					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGCAGGAGAACGCCAGTGGCC	0.572													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20523	0.0		0.0	False		,,,				2504	0.0																0								C		1,4405	2.1+/-5.4	0,1,2202	118.0	127.0	124.0		1614	-0.9	1.0	3		124	0,8600		0,0,4300	no	coding-synonymous	RNF123	NM_022064.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		538/1315	49739823	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1614C>T	3.37:g.49739823C>T			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.N538	ENST00000327697.6	37	c.1614	CCDS33758.1	3																																																																																			RNF123	-	NULL	ENSG00000164068		0.572	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	-	0.00	33	0	C	NM_022064		49739823	+1	tier1	-	no_errors	ENST00000327697	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.995	T
RNF144A	9781	genome.wustl.edu	37	2	7179767	7179767	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:7179767G>A	ENST00000320892.6	+	9	1197	c.755G>A	c.(754-756)gGc>gAc	p.G252D	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	252					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CAGGTTGTGGGCATTTTTGCA	0.502																																																	0													228.0	213.0	218.0					2																	7179767		2203	4300	6503	SO:0001583	missense	0			D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.755G>A	2.37:g.7179767G>A	ENSP00000321330:p.Gly252Asp		D6W4Y6|Q585H5	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING	p.G252D	ENST00000320892.6	37	c.755	CCDS1657.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817030	0.90790	.	.	ENSG00000151692	ENST00000320892	T	0.24908	1.83	5.01	5.01	0.66863	Zinc finger, RING-type (1);	0.045290	0.85682	D	0.000000	T	0.45518	0.1346	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.42916	-0.9423	10	0.87932	D	0	.	18.7372	0.91759	0.0:0.0:1.0:0.0	.	252	P50876	R144A_HUMAN	D	252	ENSP00000321330:G252D	ENSP00000321330:G252D	G	+	2	0	RNF144A	7097218	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.198000	0.94994	2.486000	0.83907	0.549000	0.68633	GGC	RNF144A	-	NULL	ENSG00000151692		0.502	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF144A	HGNC	protein_coding	OTTHUMT00000206725.2	-	0.00	84	0	G	NM_014746		7179767	+1	tier1	-	no_errors	ENST00000320892	ensembl	human	known	74_37	missense	8.64	74	7	SNP	1.000	A
RNF20	56254	genome.wustl.edu	37	9	104309733	104309733	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:104309733G>A	ENST00000389120.3	+	9	1115	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	342					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GCTCAGAACCGTCTCTGTGAG	0.413																																																	0													76.0	78.0	77.0					9																	104309733		2203	4300	6503	SO:0001583	missense	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1025G>A	9.37:g.104309733G>A	ENSP00000373772:p.Arg342His		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.R342H	ENST00000389120.3	37	c.1025	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115966	0.77323	.	.	ENSG00000155827	ENST00000389120	T	0.30182	1.54	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.62709	-0.6797	10	0.59425	D	0.04	-9.1354	19.1689	0.93569	0.0:0.0:1.0:0.0	.	342	Q5VTR2	BRE1A_HUMAN	H	342	ENSP00000373772:R342H	ENSP00000373772:R342H	R	+	2	0	RNF20	103349554	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.621000	0.83083	2.691000	0.91804	0.563000	0.77884	CGT	RNF20	-	superfamily_STAT_TF_coiled-coil	ENSG00000155827		0.413	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	-	0.00	43	0	G	NM_019592		104309733	+1	tier1	-	no_errors	ENST00000389120	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	A
RNF207	388591	genome.wustl.edu	37	1	6270328	6270328	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:6270328C>T	ENST00000377939.4	+	9	973	c.846C>T	c.(844-846)caC>caT	p.H282H	RNF207_ENST00000377948.2_Silent_p.H55H	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	282						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGCTCTCTCACTTGGCCACCT	0.677																																																	0													73.0	72.0	73.0					1																	6270328		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.846C>T	1.37:g.6270328C>T			A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	NULL	p.H55	ENST00000377939.4	37	c.165	CCDS59.2	1																																																																																			RNF207	-	NULL	ENSG00000158286		0.677	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	HGNC	protein_coding	OTTHUMT00000003669.2	-	0.00	70	0	C	NM_207396		6270328	+1	tier1	-	no_errors	ENST00000377948	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.982	T
RNF213	57674	genome.wustl.edu	37	17	78367233	78367233	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:78367233C>A	ENST00000582970.1	+	68	15702	c.15559C>A	c.(15559-15561)Ctc>Atc	p.L5187I	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.L3260I|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L5236I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5187				L -> P (in Ref. 7; BAB15330). {ECO:0000305}.	ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAGATACTGCTCGCCAGCTG	0.418																																																	0													93.0	89.0	90.0					17																	78367233		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15559C>A	17.37:g.78367233C>A	ENSP00000464087:p.Leu5187Ile		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L5187I	ENST00000582970.1	37	c.15559	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299764	0.60195	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.38560	1.13	4.46	3.45	0.39498	.	0.084390	0.47852	D	0.000210	T	0.50292	0.1607	M	0.80183	2.485	0.18873	N	0.999987	D;D	0.56968	0.973;0.978	P;P	0.50049	0.587;0.629	T	0.49370	-0.8947	10	0.66056	D	0.02	.	7.3595	0.26737	0.1744:0.74:0.0:0.0857	.	5187;3260	D6RI12;Q63HN8	.;RN213_HUMAN	I	5187;5236;3260;537	ENSP00000338218:L3260I	ENSP00000338218:L3260I	L	+	1	0	RNF213	75981828	0.939000	0.31865	0.011000	0.14972	0.076000	0.17211	2.012000	0.40932	0.940000	0.37473	0.563000	0.77884	CTC	RNF213	-	NULL	ENSG00000173821		0.418	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0.00	59	0	C	NM_020914		78367233	+1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	25.00	51	17	SNP	0.477	A
RNF215	200312	genome.wustl.edu	37	22	30775768	30775768	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:30775768T>C	ENST00000382363.3	-	8	1117	c.1043A>G	c.(1042-1044)cAc>cGc	p.H348R	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	348						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						ACAGTCTCGGTGAAACTCGTG	0.647																																																	0													48.0	43.0	45.0					22																	30775768		2197	4293	6490	SO:0001583	missense	0				CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.1043A>G	22.37:g.30775768T>C	ENSP00000371800:p.His348Arg		A6NEL1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H348R	ENST00000382363.3	37	c.1043	CCDS33633.1	22	.	.	.	.	.	.	.	.	.	.	T	17.01	3.278708	0.59758	.	.	ENSG00000099999	ENST00000382363	T	0.78003	-1.14	4.71	4.71	0.59529	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.92237	0.7538	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94482	0.7694	10	0.87932	D	0	-25.3716	12.5853	0.56414	0.0:0.0:0.0:1.0	.	348	Q9Y6U7	RN215_HUMAN	R	348	ENSP00000371800:H348R	ENSP00000371800:H348R	H	-	2	0	RNF215	29105768	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.395000	0.66291	1.970000	0.57323	0.459000	0.35465	CAC	RNF215	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000099999		0.647	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF215	HGNC	protein_coding	OTTHUMT00000320960.1	-	0.00	30	0	T	NM_001017981		30775768	-1	tier1	-	no_errors	ENST00000382363	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	C
RNF220	55182	genome.wustl.edu	37	1	44877906	44877906	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:44877906G>A	ENST00000355387.2	+	2	587	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	RNF220_ENST00000361799.2_Missense_Mutation_p.R46Q|RNF220_ENST00000372247.2_Missense_Mutation_p.R46Q			Q5VTB9	RN220_HUMAN	ring finger protein 220	46					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R46P(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CAGCAGCCACGACCCTTTGGT	0.557																																																	2	Substitution - Missense(2)	endometrium(2)											184.0	168.0	173.0					1																	44877906		2203	4300	6503	SO:0001583	missense	0			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.137G>A	1.37:g.44877906G>A	ENSP00000347548:p.Arg46Gln		B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.R46Q	ENST00000355387.2	37	c.137	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813740	0.90790	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000003	T	0.66336	0.2779	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.66697	-0.5858	9	0.59425	D	0.04	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	46	Q5VTB9	RN220_HUMAN	Q	46	.	ENSP00000347548:R46Q	R	+	2	0	RNF220	44650493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.880000	0.98712	0.655000	0.94253	CGA	RNF220	-	NULL	ENSG00000187147		0.557	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	-	0.00	54	0	G	NM_018150		44877906	+1	tier1	-	no_errors	ENST00000355387	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	A
RNF44	22838	genome.wustl.edu	37	5	175959157	175959157	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:175959157G>A	ENST00000274811.4	-	3	669	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	RNF44_ENST00000537487.1_Intron|RNF44_ENST00000509404.1_5'Flank	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	49	Pro-rich.						zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCTCATCCCGGGCAGGCGGG	0.731																																																	0													8.0	12.0	11.0					5																	175959157		2166	4225	6391	SO:0001583	missense	0			AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"""RING-type (C3HC4) zinc fingers"""	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.145C>T	5.37:g.175959157G>A	ENSP00000274811:p.Arg49Trp		B4DYE0|Q8ND05|Q9UPQ2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R49W	ENST00000274811.4	37	c.145	CCDS4404.1	5	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530370	0.45073	.	.	ENSG00000146083	ENST00000274811	T	0.33216	1.42	4.23	2.4	0.29515	.	0.353014	0.25291	N	0.031739	T	0.13628	0.0330	N	0.08118	0	0.80722	D	1	P	0.49185	0.92	B	0.38712	0.28	T	0.05178	-1.0901	10	0.56958	D	0.05	-9.9867	8.4694	0.32975	0.1833:0.0:0.8167:0.0	.	49	Q7L0R7	RNF44_HUMAN	W	49	ENSP00000274811:R49W	ENSP00000274811:R49W	R	-	1	2	RNF44	175891763	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	5.267000	0.65530	0.911000	0.36747	-0.254000	0.11334	CGG	RNF44	-	NULL	ENSG00000146083		0.731	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF44	HGNC	protein_coding	OTTHUMT00000253156.2	-	0.00	32	0	G			175959157	-1	tier1	-	no_errors	ENST00000274811	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	A
RNFT1	51136	genome.wustl.edu	37	17	58040251	58040251	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:58040251G>A	ENST00000305783.8	-	2	506	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	RP11-178C3.2_ENST00000586209.1_lincRNA|RNFT1_ENST00000442346.2_Silent_p.L114L|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	151						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CTTTTTTGCAGCCACTTGAAG	0.408																																																	0													66.0	66.0	66.0					17																	58040251		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.451C>T	17.37:g.58040251G>A			Q8N7D0|Q96IZ9|Q9Y686	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L151	ENST00000305783.8	37	c.451	CCDS11622.2	17																																																																																			RNFT1	-	NULL	ENSG00000189050		0.408	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT1	HGNC	protein_coding	OTTHUMT00000308958.1	-	0.00	32	0	G	NM_016125		58040251	-1	tier1	-	no_errors	ENST00000305783	ensembl	human	known	74_37	silent	61.36	17	27	SNP	1.000	A
ROBO1	6091	genome.wustl.edu	37	3	78685185	78685185	+	Silent	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:78685185A>C	ENST00000464233.1	-	23	3224	c.3111T>G	c.(3109-3111)gtT>gtG	p.V1037V	ROBO1_ENST00000495273.1_Silent_p.V992V|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000436010.2_Silent_p.V998V	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1037					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CATCACCATAAACAGTTGACT	0.393																																																	0													86.0	85.0	85.0					3																	78685185		1940	4135	6075	SO:0001819	synonymous_variant	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3111T>G	3.37:g.78685185A>C			B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1037	ENST00000464233.1	37	c.3111	CCDS54611.1	3																																																																																			ROBO1	-	NULL	ENSG00000169855		0.393	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0.00	80	0	A	NM_002941		78685185	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	silent	21.74	72	20	SNP	0.991	C
ROBO1	6091	genome.wustl.edu	37	3	78685252	78685252	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:78685252C>T	ENST00000464233.1	-	23	3157	c.3044G>A	c.(3043-3045)tGt>tAt	p.C1015Y	ROBO1_ENST00000495273.1_Missense_Mutation_p.C970Y|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000436010.2_Missense_Mutation_p.C976Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1015					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTTGCTATACAATCAGCTAT	0.348																																																	0													40.0	39.0	39.0					3																	78685252		1862	4091	5953	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3044G>A	3.37:g.78685252C>T	ENSP00000420321:p.Cys1015Tyr		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C1015Y	ENST00000464233.1	37	c.3044	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550256	0.65311	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000398414	T;T;T	0.61274	0.14;0.12;0.2	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	L	0.51422	1.61	0.80722	D	1	D;D;D;B	0.76494	0.997;0.964;0.999;0.371	D;P;D;B	0.85130	0.994;0.714;0.997;0.217	T	0.68202	-0.5471	9	.	.	.	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	979;1015;970;976	Q9Y6N7-3;Q9Y6N7;B2RXI1;Q9Y6N7-4	.;ROBO1_HUMAN;.;.	Y	976;970;1015;970;1019	ENSP00000406043:C976Y;ENSP00000420321:C1015Y;ENSP00000420637:C970Y	.	C	-	2	0	ROBO1	78767942	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.270000	0.78493	2.835000	0.97688	0.650000	0.86243	TGT	ROBO1	-	NULL	ENSG00000169855		0.348	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0.00	53	0	C	NM_002941		78685252	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	T
ROBO4	54538	genome.wustl.edu	37	11	124765468	124765468	+	Silent	SNP	G	G	A	rs534292971		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:124765468G>A	ENST00000306534.3	-	6	1406	c.921C>T	c.(919-921)agC>agT	p.S307S	ROBO4_ENST00000533054.1_Silent_p.S162S|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	307	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S307S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CAAGCTCTGCGCTCTGCCAGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14922	0.0		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	large_intestine(1)											33.0	41.0	38.0					11																	124765468		2199	4291	6490	SO:0001819	synonymous_variant	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.921C>T	11.37:g.124765468G>A			A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S307	ENST00000306534.3	37	c.921	CCDS8455.1	11																																																																																			ROBO4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154133		0.657	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1		0.00	21	0	G	NM_019055		124765468	-1			no_errors	ENST00000306534	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.969	A
ROCK1	6093	genome.wustl.edu	37	18	18622641	18622641	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:18622641A>G	ENST00000399799.2	-	7	1645	c.705T>C	c.(703-705)gtT>gtC	p.V235V		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAGGTGTTCCAACCGCTGTAT	0.373																																																	0													105.0	96.0	99.0					18																	18622641		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.705T>C	18.37:g.18622641A>G			B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.V235	ENST00000399799.2	37	c.705	CCDS11870.2	18																																																																																			ROCK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom	ENSG00000067900		0.373	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	-	0.00	84	0	A	NM_005406		18622641	-1	tier1	-	no_errors	ENST00000399799	ensembl	human	known	74_37	silent	18.06	59	13	SNP	1.000	G
ROPN1B	152015	genome.wustl.edu	37	3	125691017	125691017	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:125691017C>T	ENST00000514116.1	+	3	431				ROPN1B_ENST00000251776.4_Intron|ROPN1B_ENST00000511862.1_Intron|ROPN1B_ENST00000504401.1_Silent_p.Y40Y			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B						acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GGGCCGAGTACGTGCTCCTTT	0.627																																																	0													38.0	40.0	39.0					3																	125691017		2203	4300	6503	SO:0001627	intron_variant	0			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.116+4C>T	3.37:g.125691017C>T			D3DNA6|Q96BM7	Silent	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.Y40	ENST00000514116.1	37	c.120	CCDS33841.1	3																																																																																			ROPN1B	-	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	ENSG00000114547		0.627	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROPN1B	HGNC	protein_coding	OTTHUMT00000369931.1	-	0.00	43	0	C	NM_001012337		125691017	+1	tier1	-	no_errors	ENST00000504401	ensembl	human	putative	74_37	silent	6.90	54	4	SNP	0.224	T
ROR2	4920	genome.wustl.edu	37	9	94538048	94538048	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:94538048C>A	ENST00000375708.3	-	2	348	c.150G>T	c.(148-150)caG>caT	p.Q50H	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_De_novo_Start_OutOfFrame	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	50					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCGGGCCGTCCTGCCCATCAA	0.522											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													85.0	71.0	76.0					9																	94538048		2203	4300	6503	SO:0001583	missense	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.150G>T	9.37:g.94538048C>A	ENSP00000364860:p.Gln50His	1306	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q50H	ENST00000375708.3	37	c.150	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	3.456	-0.110935	0.06924	.	.	ENSG00000169071	ENST00000375708	T	0.77358	-1.09	4.37	-3.4	0.04853	.	1.181470	0.06554	N	0.745471	T	0.44456	0.1294	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25187	-1.0139	10	0.14252	T	0.57	.	1.2614	0.02002	0.1738:0.3715:0.2671:0.1876	.	50;50	A1L4F5;Q01974	.;ROR2_HUMAN	H	50	ENSP00000364860:Q50H	ENSP00000364860:Q50H	Q	-	3	2	ROR2	93577869	0.022000	0.18835	0.010000	0.14722	0.129000	0.20672	-1.261000	0.02855	-0.669000	0.05289	0.561000	0.74099	CAG	ROR2	-	pirsf_Tyr_kinase_rcpt_ROR	ENSG00000169071		0.522	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	-	0.00	39	0	C			94538048	-1	tier1	-	no_errors	ENST00000375708	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.013	A
RP1L1	94137	genome.wustl.edu	37	8	10470049	10470049	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:10470049C>T	ENST00000382483.3	-	4	1782	c.1559G>A	c.(1558-1560)cGc>cAc	p.R520H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	520					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGGTGTCAGGCGGCCGCCTTG	0.692																																																	0													27.0	32.0	30.0					8																	10470049		1946	4110	6056	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1559G>A	8.37:g.10470049C>T	ENSP00000371923:p.Arg520His		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R520H	ENST00000382483.3	37	c.1559	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767351	0.31320	.	.	ENSG00000183638	ENST00000382483	T	0.04809	3.55	4.05	2.15	0.27550	.	.	.	.	.	T	0.04003	0.0112	N	0.19112	0.55	0.09310	N	1	D	0.60160	0.987	P	0.45037	0.467	T	0.42932	-0.9422	9	0.52906	T	0.07	0.0687	5.4588	0.16606	0.0:0.6779:0.2058:0.1163	.	520	A6NKC6	.	H	520	ENSP00000371923:R520H	ENSP00000371923:R520H	R	-	2	0	RP1L1	10507459	0.001000	0.12720	0.003000	0.11579	0.141000	0.21300	0.398000	0.20899	0.278000	0.22164	0.305000	0.20034	CGC	RP1L1	-	NULL	ENSG00000183638		0.692	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0.00	37	0	C			10470049	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.154	T
RPL22	6146	genome.wustl.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																			Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)											62.0	55.0	57.0					1																	6257785		2203	4300	6503	SO:0001589	frameshift_variant	0			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs		B2R495|Q6IBD1	Frame_Shift_Del	DEL	pfam_Ribosomal_L22e	p.K15fs	ENST00000234875.4	37	c.44	CCDS58.1	1																																																																																			RPL22	-	pfam_Ribosomal_L22e	ENSG00000116251		0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL22	HGNC	protein_coding	OTTHUMT00000002830.1		0.00	49	0	T	NM_000983		6257785	-1	tier1		no_errors	ENST00000234875	ensembl	human	known	74_37	frame_shift_del	36.76	43	25	DEL	1.000	-
RPN1	6184	genome.wustl.edu	37	3	128348877	128348877	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:128348877G>T	ENST00000296255.3	-	5	1001	c.953C>A	c.(952-954)cCt>cAt	p.P318H	RPN1_ENST00000497289.1_Missense_Mutation_p.P146H|RPN1_ENST00000490166.1_5'Flank	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	318					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		AGGGAAGCGAGGCCGGATTTC	0.483			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													88.0	84.0	86.0					3																	128348877		2203	4300	6503	SO:0001583	missense	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.953C>A	3.37:g.128348877G>T	ENSP00000296255:p.Pro318His		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.P318H	ENST00000296255.3	37	c.953	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985749	0.93044	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.87051	0.6081	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90352	0.4367	9	0.87932	D	0	-13.2282	19.0082	0.92861	0.0:0.0:1.0:0.0	.	318	P04843	RPN1_HUMAN	H	318;146;89;292	.	ENSP00000296255:P318H	P	-	2	0	RPN1	129831567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.338000	0.96553	2.487000	0.83934	0.591000	0.81541	CCT	RPN1	-	pfam_Ribophorin_I	ENSG00000163902		0.483	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	-	0.00	67	0	G	NM_002950		128348877	-1	tier1	-	no_errors	ENST00000296255	ensembl	human	known	74_37	missense	15.25	50	9	SNP	1.000	T
RPS6KA2	6196	genome.wustl.edu	37	6	166889308	166889308	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:166889308G>A	ENST00000265678.4	-	11	1131				RPS6KA2_ENST00000503859.1_Intron|RPS6KA2_ENST00000405189.3_Intron|RPS6KA2_ENST00000510118.1_Intron|RPS6KA2_ENST00000366863.2_Silent_p.C155C|RPS6KA2_ENST00000481261.2_Intron	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2						axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCACACGGGGGCAGAGGGCCG	0.478																																																	0													108.0	111.0	110.0					6																	166889308		876	1991	2867	SO:0001627	intron_variant	0			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.908-5915C>T	6.37:g.166889308G>A			B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C155	ENST00000265678.4	37	c.465	CCDS5294.1	6																																																																																			RPS6KA2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000071242		0.478	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	-	0.00	104	0	G	NM_021135		166889308	-1	tier1	-	no_errors	ENST00000366863	ensembl	human	known	74_37	silent	18.64	48	11	SNP	0.000	A
RPS6KA4	8986	genome.wustl.edu	37	11	64126867	64126869	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64126867_64126869delGAG	ENST00000334205.4	+	2	138_140	c.73_75delGAG	c.(73-75)gagdel	p.E26del	RPS6KA4_ENST00000528057.1_In_Frame_Del_p.E26del|RPS6KA4_ENST00000294261.4_In_Frame_Del_p.E26del	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	26					axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GACCGGGCACGAGGAGAAGGTGA	0.714																																																	0																																										SO:0001651	inframe_deletion	0			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.73_75delGAG	11.37:g.64126870_64126872delGAG	ENSP00000333896:p.Glu26del		A8K7Z8|O75585|Q53ES8	In_Frame_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.E26in_frame_del	ENST00000334205.4	37	c.73_75	CCDS8073.1	11																																																																																			RPS6KA4	-	superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II	ENSG00000162302		0.714	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA4	HGNC	protein_coding	OTTHUMT00000106246.2		0.00	90	0	GAG	NM_003942		64126869	+1	tier1		no_errors	ENST00000334205	ensembl	human	known	74_37	in_frame_del	28.79	47	19	DEL	1.000:1.000:1.000	-
RPTOR	57521	genome.wustl.edu	37	17	78567121	78567121	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:78567121G>A	ENST00000306801.3	+	2	524				RPTOR_ENST00000537330.1_Intron|RPTOR_ENST00000570891.1_Intron|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1						cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						tgatgagaccgcggcggccat	0.488																																																	0																																										SO:0001627	intron_variant	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.163-32370G>A	17.37:g.78567121G>A			B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	RNA	SNP	-	NULL	ENST00000306801.3	37	NULL	CCDS11773.1	17																																																																																			RPTOR	-	-	ENSG00000141564		0.488	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	-	0.00	43	0	G	NM_020761		78567121	+1	tier1	-	no_errors	ENST00000573746	ensembl	human	putative	74_37	rna	26.47	25	9	SNP	0.000	A
RRAD	6236	genome.wustl.edu	37	16	66957796	66957796	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:66957796C>T	ENST00000299759.6	-	3	647	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	RRAD_ENST00000420652.1_Missense_Mutation_p.V133M			P55042	RAD_HUMAN	Ras-related associated with diabetes	133					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TCTCCGTCCACTACAATGGAG	0.567																																																	0													207.0	194.0	198.0					16																	66957796		2200	4300	6500	SO:0001583	missense	0			L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.397G>A	16.37:g.66957796C>T	ENSP00000299759:p.Val133Met		Q96F39	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V133M	ENST00000299759.6	37	c.397	CCDS10824.1	16	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060093	0.76074	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.79141	-1.24;-1.24	4.11	4.11	0.48088	Small GTP-binding protein domain (1);	0.126808	0.52532	D	0.000072	D	0.89543	0.6745	M	0.91140	3.18	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	D	0.92387	0.5918	10	0.87932	D	0	.	16.5253	0.84329	0.0:1.0:0.0:0.0	.	133	P55042	RAD_HUMAN	M	133	ENSP00000388744:V133M;ENSP00000299759:V133M	ENSP00000299759:V133M	V	-	1	0	RRAD	65515297	1.000000	0.71417	0.965000	0.40720	0.638000	0.38207	7.374000	0.79633	2.294000	0.77228	0.561000	0.74099	GTG	RRAD	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000166592		0.567	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAD	HGNC	protein_coding	OTTHUMT00000268830.1	-	0.00	42	0	C	NM_004165		66957796	-1	tier1	-	no_errors	ENST00000299759	ensembl	human	known	74_37	missense	42.86	24	18	SNP	1.000	T
RRAGD	58528	genome.wustl.edu	37	6	90121614	90121614	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:90121614G>A	ENST00000359203.3	-	0	175				RRAGD_ENST00000492783.1_5'Flank|RRAGD_ENST00000369415.4_Silent_p.D33D					Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		AGTCGGGCCCGTCTCCGTAGT	0.721																																																	0													21.0	16.0	18.0					6																	90121614		2113	4144	6257			0			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200		6.37:g.90121614G>A				Silent	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.D33	ENST00000359203.3	37	c.99		6																																																																																			RRAGD	-	NULL	ENSG00000025039		0.721	RRAGD-002	PUTATIVE	basic	protein_coding	RRAGD	HGNC	protein_coding	OTTHUMT00000041485.2	-	0.00	32	0	G	NM_021244		90121614	-1	tier1	-	no_errors	ENST00000369415	ensembl	human	known	74_37	silent	35.00	13	7	SNP	1.000	A
RRBP1	6238	genome.wustl.edu	37	20	17641107	17641107	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:17641107C>A	ENST00000377813.1	-	3	349	c.46G>T	c.(46-48)Gga>Tga	p.G16*	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.G16*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.G16*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.G16*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	16					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ACCATGAATCCTCCAAAGACC	0.453																																																	0													88.0	83.0	85.0					20																	17641107		2203	4300	6503	SO:0001587	stop_gained	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.46G>T	20.37:g.17641107C>A	ENSP00000367044:p.Gly16*		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Nonsense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.G16*	ENST00000377813.1	37	c.46		20	.	.	.	.	.	.	.	.	.	.	C	36	5.601396	0.96614	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000398782	.	.	.	4.54	4.54	0.55810	.	0.000000	0.31577	N	0.007401	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.671	16.6221	0.84933	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000246043:G16X	G	-	1	0	RRBP1	17589107	1.000000	0.71417	0.996000	0.52242	0.823000	0.46562	7.736000	0.84948	2.247000	0.74100	0.655000	0.94253	GGA	RRBP1	-	NULL	ENSG00000125844		0.453	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1		0.00	60	0	C	NM_001042576		17641107	-1			no_errors	ENST00000246043	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	A
RRM2B	50484	genome.wustl.edu	37	8	103236304	103236304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:103236304G>A	ENST00000251810.3	-	5	763	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Nonsense_Mutation_p.R122*|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	174					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	GCTATCCATCGCAAGGCCCAA	0.338								Modulation of nucleotide pools																																									0													192.0	201.0	198.0					8																	103236304		2203	4300	6503	SO:0001587	stop_gained	0			AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.520C>T	8.37:g.103236304G>A	ENSP00000251810:p.Arg174*		B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Nonsense_Mutation	SNP	pfam_RNR_small,superfamily_Ferritin-like_SF	p.R174*	ENST00000251810.3	37	c.520	CCDS34932.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.96|19.96	3.923234|3.923234	0.73213|0.73213	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000522368|ENST00000251810;ENST00000535248;ENST00000395912	.|.	.|.	.|.	5.36|5.36	3.48|3.48	0.39840|0.39840	.|.	.|0.409490	.|0.27846	.|N	.|0.017620	T|.	0.40498|.	0.1119|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21143|.	-1.0254|.	4|.	.|0.02654	.|T	.|1	.|.	14.3891|14.3891	0.66965|0.66965	0.0:0.0:0.4417:0.5583|0.0:0.0:0.4417:0.5583	.|.	.|.	.|.	.|.	V|X	230|174;120;122	.|.	.|ENSP00000251810:R174X	A|R	-|-	2|1	0|2	RRM2B|RRM2B	103305480|103305480	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	1.591000|1.591000	0.36665|0.36665	0.656000|0.656000	0.30886|0.30886	0.650000|0.650000	0.86243|0.86243	GCG|CGA	RRM2B	-	pfam_RNR_small,superfamily_Ferritin-like_SF	ENSG00000048392		0.338	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM2B	HGNC	protein_coding	OTTHUMT00000380191.3	-	0.00	48	0	G			103236304	-1	tier1	-	no_errors	ENST00000251810	ensembl	human	known	74_37	nonsense	16.39	51	10	SNP	0.978	A
RRN3P2	653390	genome.wustl.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																																	25	Substitution - Missense(25)	endometrium(19)|kidney(4)|prostate(2)																																										0					16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C				RNA	SNP	-	NULL	ENST00000564580.1	37	NULL		16	.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG	RRN3P2	-	-	ENSG00000103472		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	RRN3P2	HGNC	pseudogene	OTTHUMT00000433243.1	-	0.00	76	0	T	NR_003369		29110458	+1	tier1	-	no_errors	ENST00000427965	ensembl	human	known	74_37	rna	17.52	113	24	SNP	0.991	C
RSBN1	54665	genome.wustl.edu	37	1	114319836	114319836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:114319836G>A	ENST00000261441.5	-	4	1717	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	552						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTACCGTCGTCTTTTGAAG	0.403																																																	0													163.0	161.0	162.0					1																	114319836		2203	4300	6503	SO:0001587	stop_gained	0			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1654C>T	1.37:g.114319836G>A	ENSP00000261441:p.Arg552*		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Nonsense_Mutation	SNP	NULL	p.R552*	ENST00000261441.5	37	c.1654	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.730575	0.97796	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.62	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8739	0.79145	0.0:0.0:0.8634:0.1366	.	.	.	.	X	552	.	ENSP00000261441:R552X	R	-	1	2	RSBN1	114121359	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.484000	0.53201	1.352000	0.45808	0.650000	0.86243	CGA	RSBN1	-	NULL	ENSG00000081019		0.403	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	-	0.00	64	0	G	NM_018364		114319836	-1	tier1	-	no_errors	ENST00000261441	ensembl	human	known	74_37	nonsense	14.52	53	9	SNP	1.000	A
RSPH10B2	728194	genome.wustl.edu	37	7	6831535	6831535	+	Splice_Site	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:6831535C>A	ENST00000403107.1	+	18	2527	c.2140C>A	c.(2140-2142)Ccc>Acc	p.P714T	RSPH10B2_ENST00000297186.3_Splice_Site_p.P714T|RSPH10B2_ENST00000433859.2_Splice_Site_p.P714T|RSPH10B2_ENST00000404077.1_Splice_Site_p.P714T|CCZ1B_ENST00000597208.1_5'Flank|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000359718.3_3'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	714										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						AATGCAAAAGCCCAAGATCAA	0.284																																																	0													1.0	1.0	1.0					7																	6831535		209	597	806	SO:0001630	splice_region_variant	0				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.2140-1C>A	7.37:g.6831535C>A			A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.P714T	ENST00000403107.1	37	c.2140	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	C	4.711	0.132198	0.08981	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859;ENST00000540958	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	2.94	0.0534	0.14306	.	2.047000	0.02643	U	0.105521	T	0.39835	0.1093	L	0.47716	1.5	0.26707	N	0.971055	B	0.17038	0.02	B	0.12156	0.007	T	0.11397	-1.0589	9	.	.	.	.	4.6404	0.12545	0.4091:0.3812:0.2097:0.0	.	714	B2RC85	R10B2_HUMAN	T	714;714;714;714;573	ENSP00000384766:P714T;ENSP00000386102:P714T;ENSP00000297186:P714T;ENSP00000416710:P714T	.	P	+	1	0	RSPH10B2	6798060	0.798000	0.28890	0.607000	0.28956	0.121000	0.20230	0.005000	0.13129	0.107000	0.17824	0.177000	0.17058	CCC	RSPH10B2	-	NULL	ENSG00000169402		0.284	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	-	0.00	23	0	C	NM_001099697	Missense_Mutation	6831535	+1	tier1	-	no_errors	ENST00000297186	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.347	A
RTN3	10313	genome.wustl.edu	37	11	63525656	63525656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:63525656delA	ENST00000377819.5	+	9	3236	c.3082delA	c.(3082-3084)aaafs	p.K1030fs	RTN3_ENST00000356000.3_Frame_Shift_Del_p.K253fs|RTN3_ENST00000341307.2_Frame_Shift_Del_p.Q212fs|RTN3_ENST00000540798.1_Frame_Shift_Del_p.K918fs|RTN3_ENST00000537981.1_Frame_Shift_Del_p.K234fs|C11orf95_ENST00000433688.1_lincRNA|RTN3_ENST00000339997.4_Frame_Shift_Del_p.K1011fs|RTN3_ENST00000354497.4_Frame_Shift_Del_p.P146fs	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	1030	Interaction with FADD.|Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGGAATCGCCAAAAAAAAGGC	0.333																																																	0													74.0	70.0	71.0					11																	63525656		2201	4298	6499	SO:0001589	frameshift_variant	0			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.3082delA	11.37:g.63525656delA	ENSP00000367050:p.Lys1030fs		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Frame_Shift_Del	DEL	pfam_Reticulon,pfscan_Reticulon	p.K1030fs	ENST00000377819.5	37	c.3082	CCDS58141.1	11																																																																																			RTN3	-	pfscan_Reticulon	ENSG00000133318		0.333	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1		0.00	38	0	A	NM_006054		63525656	+1	tier1		no_errors	ENST00000377819	ensembl	human	known	74_37	frame_shift_del	35.00	26	14	DEL	1.000	-
RTN4	57142	genome.wustl.edu	37	2	55209688	55209688	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:55209688C>T	ENST00000337526.6	-	5	3566	c.3323G>A	c.(3322-3324)cGc>cAc	p.R1108H	RTN4_ENST00000405240.1_Missense_Mutation_p.R902H|RTN4_ENST00000357732.4_Missense_Mutation_p.R308H|RTN4_ENST00000394609.2_Missense_Mutation_p.R115H|RTN4_ENST00000402434.2_Missense_Mutation_p.R261H|RTN4_ENST00000394611.2_Missense_Mutation_p.R902H|RTN4_ENST00000317610.7_Missense_Mutation_p.R289H|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000357376.3_Missense_Mutation_p.R902H|RTN4_ENST00000354474.6_Missense_Mutation_p.R876H|RTN4_ENST00000404909.1_Missense_Mutation_p.R902H	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1108	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TAAGAAGAGGCGCCTGAGTTC	0.378																																																	0													85.0	80.0	81.0					2																	55209688		2203	4300	6503	SO:0001583	missense	0			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3323G>A	2.37:g.55209688C>T	ENSP00000337838:p.Arg1108His		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.R1108H	ENST00000337526.6	37	c.3323	CCDS42684.1	2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784557	0.70222	.	.	ENSG00000115310	ENST00000394609;ENST00000405240;ENST00000357376;ENST00000337526;ENST00000317610;ENST00000357732;ENST00000394611;ENST00000404909;ENST00000402434;ENST00000354474	T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.84	4.95	0.65309	.	0.093699	0.85682	D	0.000000	T	0.59878	0.2226	L	0.41573	1.285	0.80722	D	1	P;P;D;B	0.89917	0.762;0.827;1.0;0.348	P;B;D;B	0.91635	0.545;0.41;0.999;0.243	T	0.58375	-0.7647	10	0.49607	T	0.09	-5.9866	15.3424	0.74309	0.0:0.9319:0.0:0.0681	.	289;308;1108;115	Q7L7Q6;Q9NQC3-5;Q9NQC3;Q7L7Q5	.;.;RTN4_HUMAN;.	H	115;902;902;1108;289;308;902;902;261;876	ENSP00000378107:R115H;ENSP00000384471:R902H;ENSP00000349944:R902H;ENSP00000337838:R1108H;ENSP00000322147:R289H;ENSP00000350365:R308H;ENSP00000378109:R902H;ENSP00000385650:R902H;ENSP00000384825:R261H;ENSP00000346465:R876H	ENSP00000322147:R289H	R	-	2	0	RTN4	55063192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.002000	0.70693	2.758000	0.94735	0.591000	0.81541	CGC	RTN4	-	pfam_Reticulon,pfscan_Reticulon	ENSG00000115310		0.378	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	-	0.00	56	0	C			55209688	-1	tier1	-	no_errors	ENST00000337526	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	T
RTTN	25914	genome.wustl.edu	37	18	67759942	67759942	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:67759942G>T	ENST00000255674.6	-	29	4288	c.4002C>A	c.(4000-4002)tcC>tcA	p.S1334S	RTTN_ENST00000437017.1_Silent_p.S1334S|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1334					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCATCTCATGGGATAAGTGAA	0.443																																																	0													104.0	105.0	104.0					18																	67759942		2009	4161	6170	SO:0001819	synonymous_variant	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4002C>A	18.37:g.67759942G>T			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.S1334	ENST00000255674.6	37	c.4002	CCDS42443.1	18																																																																																			RTTN	-	NULL	ENSG00000176225		0.443	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	-	0.00	51	0	G	NM_173630		67759942	-1	tier1	-	no_errors	ENST00000255674	ensembl	human	known	74_37	silent	15.38	44	8	SNP	0.885	T
RTTN	25914	genome.wustl.edu	37	18	67863751	67863751	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:67863751delA	ENST00000255674.6	-	7	1113	c.827delT	c.(826-828)ttcfs	p.F276fs	RTTN_ENST00000454359.1_Frame_Shift_Del_p.F276fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.F276fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	276					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTTATTGGAGAAAAAACCTGG	0.403																																																	0													78.0	76.0	77.0					18																	67863751		1869	4099	5968	SO:0001589	frameshift_variant	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.827delT	18.37:g.67863751delA	ENSP00000255674:p.Phe276fs		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.F276fs	ENST00000255674.6	37	c.827	CCDS42443.1	18																																																																																			RTTN	-	superfamily_ARM-type_fold	ENSG00000176225		0.403	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1		0.00	89	0	A	NM_173630		67863751	-1	tier1		no_errors	ENST00000255674	ensembl	human	known	74_37	frame_shift_del	11.11	64	8	DEL	1.000	-
RXFP2	122042	genome.wustl.edu	37	13	32376432	32376432	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:32376432A>C	ENST00000298386.2	+	18	2226	c.2155A>C	c.(2155-2157)Aaa>Caa	p.K719Q	RXFP2_ENST00000380314.1_Missense_Mutation_p.K695Q	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	719					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CAAAATTAAAAAAAAAAGTTT	0.348																																																	0													107.0	117.0	114.0					13																	32376432		2203	4300	6503	SO:0001583	missense	0			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.2155A>C	13.37:g.32376432A>C	ENSP00000298386:p.Lys719Gln		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.K719Q	ENST00000298386.2	37	c.2155	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	A	2.322	-0.355300	0.05138	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.72505	-0.66;-0.58	5.78	5.78	0.91487	.	0.411631	0.25197	N	0.032407	T	0.56441	0.1985	L	0.35414	1.06	0.21256	N	0.999742	B;B	0.23735	0.09;0.09	B;B	0.24006	0.05;0.05	T	0.42050	-0.9474	10	0.12766	T	0.61	.	10.1437	0.42751	0.922:0.0:0.078:0.0	.	695;719	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	Q	695;719	ENSP00000369670:K695Q;ENSP00000298386:K719Q	ENSP00000298386:K719Q	K	+	1	0	RXFP2	31274432	0.700000	0.27796	0.941000	0.38009	0.733000	0.41908	2.107000	0.41844	2.220000	0.72140	0.533000	0.62120	AAA	RXFP2	-	NULL	ENSG00000133105		0.348	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	-	0.00	54	0	A	NM_130806		32376432	+1	tier1	-	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	27.66	34	13	SNP	0.948	C
RXRB	6257	genome.wustl.edu	37	6	33164130	33164130	+	Intron	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:33164130delG	ENST00000374680.3	-	5	1205				RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374685.4_Intron|RXRB_ENST00000413614.2_Frame_Shift_Del_p.P262fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta						cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGGGAAAGGAGGGGGAGGGGA	0.557																																																	0																																										SO:0001627	intron_variant	0			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.993+80C>-	6.37:g.33164130delG			P28703|Q59G65|Q5JP92|Q5STQ1	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S263fs	ENST00000374680.3	37	c.786	CCDS4768.1	6																																																																																			RXRB	-	NULL	ENSG00000204231		0.557	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	HGNC	protein_coding	OTTHUMT00000076642.2		0.00	90	0	G	NM_021976		33164130	-1	tier1		no_errors	ENST00000413614	ensembl	human	known	74_37	frame_shift_del	35.44	51	28	DEL	0.000	-
RYR1	6261	genome.wustl.edu	37	19	39038962	39038962	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:39038962G>A	ENST00000359596.3	+	89	12184	c.12184G>A	c.(12184-12186)Gac>Aac	p.D4062N	RYR1_ENST00000355481.4_Missense_Mutation_p.D4057N|RYR1_ENST00000360985.3_Missense_Mutation_p.D4057N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4062					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.D4062Y(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAAGTTCTTCGACATGTTCCT	0.542																																																	1	Substitution - Missense(1)	pancreas(1)											182.0	136.0	152.0					19																	39038962		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12184G>A	19.37:g.39038962G>A	ENSP00000352608:p.Asp4062Asn		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.D4062N	ENST00000359596.3	37	c.12184	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267332	0.59540	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.68025	-0.3;-0.3;-0.3	4.36	4.36	0.52297	.	0.000000	0.64402	U	0.000001	T	0.81777	0.4894	M	0.76838	2.35	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.99	D	0.83427	0.0036	10	0.51188	T	0.08	.	17.0495	0.86514	0.0:0.0:1.0:0.0	.	4057;4057;4062	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	N	4062;4057;4057	ENSP00000352608:D4062N;ENSP00000347667:D4057N;ENSP00000354254:D4057N	ENSP00000347667:D4057N	D	+	1	0	RYR1	43730802	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	9.520000	0.98027	2.441000	0.82636	0.561000	0.74099	GAC	RYR1	-	NULL	ENSG00000196218		0.542	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0.00	73	0	G			39038962	+1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	23.33	46	14	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237993779	237993779	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:237993779delT	ENST00000366574.2	+	103	14972				RYR2_ENST00000360064.6_Intron|RYR2_ENST00000542537.1_Intron	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGTTTTCCTTTTGTTTTGC	0.418																																																	0													49.0	74.0	64.0					1																	237993779		351	564	915	SO:0001627	intron_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14656-51T>-	1.37:g.237993779delT			Q15411|Q546N8|Q5T3P2	RNA	DEL	-	NULL	ENST00000366574.2	37	NULL	CCDS55691.1	1																																																																																			RYR2	-	-	ENSG00000198626		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0.00	99	0	T	NM_001035		237993779	+1	tier1		no_errors	ENST00000462585	ensembl	human	known	74_37	rna	22.62	65	19	DEL	0.000	-
RYR3	6263	genome.wustl.edu	37	15	33954455	33954455	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:33954455G>T	ENST00000389232.4	+	35	4794	c.4724G>T	c.(4723-4725)cGc>cTc	p.R1575L	RYR3_ENST00000415757.3_Missense_Mutation_p.R1575L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1575	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R1575H(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAACAGCCGCGTGGCCTAC	0.592																																																	1	Substitution - Missense(1)	endometrium(1)											59.0	59.0	59.0					15																	33954455		2061	4221	6282	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4724G>T	15.37:g.33954455G>T	ENSP00000373884:p.Arg1575Leu		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R1575L	ENST00000389232.4	37	c.4724	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443296	0.83993	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97480	-4.39;-4.4	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	D	0.98573	0.9523	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	D	0.99556	1.0967	10	0.87932	D	0	.	18.7881	0.91963	0.0:0.0:1.0:0.0	.	1575;1575	Q15413-2;Q15413	.;RYR3_HUMAN	L	1575	ENSP00000373884:R1575L;ENSP00000399610:R1575L	ENSP00000354735:R1575L	R	+	2	0	RYR3	31741747	1.000000	0.71417	0.950000	0.38849	0.716000	0.41182	9.601000	0.98297	2.673000	0.90976	0.650000	0.86243	CGC	RYR3	-	NULL	ENSG00000198838		0.592	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1		0.00	32	0	G			33954455	+1			no_errors	ENST00000389232	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	34077887	34077887	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:34077887A>G	ENST00000389232.4	+	66	9363	c.9293A>G	c.(9292-9294)gAa>gGa	p.E3098G	RYR3_ENST00000415757.3_Missense_Mutation_p.E3098G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3098					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACACGGTAGAAGACATGTGT	0.537																																																	0													44.0	51.0	49.0					15																	34077887		2125	4247	6372	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9293A>G	15.37:g.34077887A>G	ENSP00000373884:p.Glu3098Gly		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E3098G	ENST00000389232.4	37	c.9293	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828888	0.71258	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.69306	-0.39;-0.39	5.25	5.25	0.73442	.	0.060124	0.64402	D	0.000003	T	0.79851	0.4517	M	0.68593	2.085	0.58432	D	0.999999	D;B	0.89917	1.0;0.103	D;B	0.80764	0.994;0.084	T	0.80286	-0.1446	10	0.48119	T	0.1	.	15.6116	0.76727	1.0:0.0:0.0:0.0	.	3098;3098	Q15413-2;Q15413	.;RYR3_HUMAN	G	3098	ENSP00000373884:E3098G;ENSP00000399610:E3098G	ENSP00000354735:E3098G	E	+	2	0	RYR3	31865179	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	9.087000	0.94110	2.333000	0.79357	0.533000	0.62120	GAA	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	55	0	A			34077887	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	38.46	24	15	SNP	1.000	G
S1PR2	9294	genome.wustl.edu	37	19	10334909	10334909	+	Missense_Mutation	SNP	C	C	T	rs143046723	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10334909C>T	ENST00000590320.1	-	2	783	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	225					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCTGCGGGGCGGCCATGTCA	0.612																																					Pancreas(194;229 3020 15179 45747)												0								C	THR/ALA	0,4406		0,0,2203	71.0	60.0	64.0		673	4.8	0.0	19	dbSNP_134	64	5,8595	4.3+/-15.6	0,5,4295	yes	missense	S1PR2	NM_004230.3	58	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	225/354	10334909	5,13001	2203	4300	6503	SO:0001583	missense	0			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.673G>A	19.37:g.10334909C>T	ENSP00000466933:p.Ala225Thr		Q86UN8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG5_rcpt,prints_GPCR_Rhodpsn,prints_S1P_rcpt,prints_Melcrt_ACTH_rcpt	p.A225T	ENST00000590320.1	37	c.673	CCDS12229.1	19	.	.	.	.	.	.	.	.	.	.	C	9.940	1.217311	0.22373	0.0	5.81E-4	ENSG00000175898	ENST00000317726	.	.	.	5.81	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.550755	0.17097	U	0.187156	T	0.29716	0.0742	N	0.17474	0.49	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.19647	-1.0299	9	0.45353	T	0.12	.	13.864	0.63576	0.0:0.9254:0.0:0.0746	.	225	O95136	S1PR2_HUMAN	T	225	.	ENSP00000322049:A225T	A	-	1	0	S1PR2	10195909	0.000000	0.05858	0.021000	0.16686	0.000000	0.00434	1.133000	0.31430	1.474000	0.48178	-0.144000	0.13903	GCC	S1PR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG5_rcpt	ENSG00000267534		0.612	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR2	HGNC	protein_coding	OTTHUMT00000451194.1		0.00	29	0	C	NM_004230		10334909	-1			no_errors	ENST00000590320	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.174	T
S1PR2	9294	genome.wustl.edu	37	19	10335511	10335511	+	Missense_Mutation	SNP	G	G	A	rs189645503		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10335511G>A	ENST00000590320.1	-	2	181	c.71C>T	c.(70-72)aCg>aTg	p.T24M	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	24					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGTTTCCAGCGTCTCCTTGGT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19662	0.001		0.0	False		,,,				2504	0.0				Pancreas(194;229 3020 15179 45747)												0								G	MET/THR	0,4406		0,0,2203	143.0	137.0	139.0		71	1.8	0.9	19		139	2,8598	2.2+/-6.3	0,2,4298	yes	missense	S1PR2	NM_004230.3	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	24/354	10335511	2,13004	2203	4300	6503	SO:0001583	missense	0			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.71C>T	19.37:g.10335511G>A	ENSP00000466933:p.Thr24Met		Q86UN8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG5_rcpt,prints_GPCR_Rhodpsn,prints_S1P_rcpt,prints_Melcrt_ACTH_rcpt	p.T24M	ENST00000590320.1	37	c.71	CCDS12229.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.235	0.805435	0.16467	0.0	2.33E-4	ENSG00000175898	ENST00000317726	.	.	.	5.09	1.8	0.24995	.	0.303471	0.31071	N	0.008307	T	0.32102	0.0818	L	0.44542	1.39	0.31460	N	0.669738	B	0.11235	0.004	B	0.06405	0.002	T	0.16217	-1.0410	9	0.34782	T	0.22	.	3.3445	0.07131	0.0841:0.1413:0.3482:0.4264	.	24	O95136	S1PR2_HUMAN	M	24	.	ENSP00000322049:T24M	T	-	2	0	S1PR2	10196511	0.000000	0.05858	0.863000	0.33907	0.591000	0.36615	0.046000	0.14035	0.548000	0.28955	0.586000	0.80456	ACG	S1PR2	-	prints_EDG5_rcpt	ENSG00000267534		0.577	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR2	HGNC	protein_coding	OTTHUMT00000451194.1		0.00	61	0	G	NM_004230		10335511	-1			no_errors	ENST00000590320	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.757	A
S1PR5	53637	genome.wustl.edu	37	19	10625120	10625120	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10625120C>T	ENST00000439028.3	-	2	693	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	S1PR5_ENST00000333430.4_Missense_Mutation_p.A190T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	190					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	TAGGCCTTGGCGTAGAGCGGC	0.672																																																	0													28.0	24.0	26.0					19																	10625120		2200	4299	6499	SO:0001583	missense	0			AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.568G>A	19.37:g.10625120C>T	ENSP00000416915:p.Ala190Thr		Q6NW11	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn	p.A190T	ENST00000439028.3	37	c.568	CCDS12240.1	19	.	.	.	.	.	.	.	.	.	.	c	13.92	2.380416	0.42207	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	T;T	0.37058	1.22;1.22	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.147053	0.44285	U	0.000471	T	0.22126	0.0533	N	0.12471	0.22	0.34755	D	0.732162	D	0.55385	0.971	P	0.48795	0.59	T	0.09618	-1.0666	10	0.06891	T	0.86	.	9.5805	0.39484	0.3319:0.6681:0.0:0.0	.	190	Q9H228	S1PR5_HUMAN	T	190	ENSP00000416915:A190T;ENSP00000328472:A190T	ENSP00000328472:A190T	A	-	1	0	S1PR5	10486120	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.343000	0.44001	2.223000	0.72356	0.486000	0.48141	GCC	S1PR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180739		0.672	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR5	HGNC	protein_coding	OTTHUMT00000452015.1	-	0.00	60	0	C	NM_030760		10625120	-1	tier1	-	no_errors	ENST00000333430	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23909409	23909409	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:23909409C>G	ENST00000382292.3	-	9	8879	c.8606G>C	c.(8605-8607)tGt>tCt	p.C2869S	SACS_ENST00000402364.1_Missense_Mutation_p.C2119S|SACS_ENST00000382298.3_Missense_Mutation_p.C2869S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2869					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGCAAAAAACAGAAGGCCCT	0.458																																																	0													55.0	59.0	58.0					13																	23909409		2203	4299	6502	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8606G>C	13.37:g.23909409C>G	ENSP00000371729:p.Cys2869Ser		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.C2869S	ENST00000382292.3	37	c.8606	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749271	0.89753	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.92699	-2.73;-3.09;-2.73	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.93743	0.8000	L	0.39898	1.24	0.58432	D	0.99999	D	0.67145	0.996	D	0.67382	0.951	D	0.92184	0.5754	10	0.28530	T	0.3	.	19.1639	0.93546	0.0:1.0:0.0:0.0	.	2869	Q9NZJ4	SACS_HUMAN	S	2869;2119;2869	ENSP00000371729:C2869S;ENSP00000385844:C2119S;ENSP00000371735:C2869S	ENSP00000371729:C2869S	C	-	2	0	SACS	22807409	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	7.487000	0.81328	2.525000	0.85131	0.555000	0.69702	TGT	SACS	-	NULL	ENSG00000151835		0.458	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0.00	27	0	C	NM_014363		23909409	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	G
SAE1	10055	genome.wustl.edu	37	19	47634198	47634200	+	In_Frame_Del	DEL	AGG	AGG	-	rs371247946		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:47634198_47634200delAGG	ENST00000270225.7	+	1	79_81	c.11_13delAGG	c.(10-15)aaggag>aag	p.E6del	SAE1_ENST00000540850.1_Intron|SAE1_ENST00000413379.3_In_Frame_Del_p.E6del|SAE1_ENST00000598840.1_In_Frame_Del_p.E6del|SAE1_ENST00000392776.3_In_Frame_Del_p.E6del	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	6					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		ATGGTGGAGAAGGAGGAGGCTGG	0.729																																																	0																																										SO:0001651	inframe_deletion	0			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.11_13delAGG	19.37:g.47634204_47634206delAGG	ENSP00000270225:p.Glu6del		B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	In_Frame_Del	DEL	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like	p.E6in_frame_del	ENST00000270225.7	37	c.11_13	CCDS12696.1	19																																																																																			SAE1	-	NULL	ENSG00000142230		0.729	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAE1	HGNC	protein_coding	OTTHUMT00000466775.1		0.00	142	0	AGG	NM_005500		47634200	+1	tier1		no_errors	ENST00000270225	ensembl	human	known	74_37	in_frame_del	21.52	124	34	DEL	1.000:1.000:1.000	-
SAFB	6294	genome.wustl.edu	37	19	5661791	5661791	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:5661791G>A	ENST00000292123.5	+	15	2232	c.2125G>A	c.(2125-2127)Gcg>Acg	p.A709T	SAFB_ENST00000538656.1_Missense_Mutation_p.A551T|SAFB_ENST00000433404.1_Missense_Mutation_p.A539T|SAFB_ENST00000592224.1_Missense_Mutation_p.A708T|SAFB_ENST00000588852.1_Missense_Mutation_p.A709T|SAFB_ENST00000454510.1_Missense_Mutation_p.A640T	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	709	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCGGCGGCCCGCGGTGCGGCG	0.662																																					Colon(88;338 1345 6184 8214 20897)												0													5.0	6.0	5.0					19																	5661791		2040	4052	6092	SO:0001583	missense	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2125G>A	19.37:g.5661791G>A	ENSP00000292123:p.Ala709Thr		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.A709T	ENST00000292123.5	37	c.2125	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132829	0.56828	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.11385	2.81;2.96;2.8;2.78	4.99	4.99	0.66335	.	0.116874	0.38005	N	0.001843	T	0.14960	0.0361	L	0.55834	1.745	0.28634	N	0.907507	P;P;P;P;P;P;P	0.41748	0.649;0.649;0.761;0.649;0.649;0.649;0.649	B;B;B;B;B;B;B	0.38842	0.224;0.224;0.283;0.147;0.147;0.147;0.147	T	0.03761	-1.1006	10	0.66056	D	0.02	-12.2914	18.6251	0.91334	0.0:0.0:1.0:0.0	.	508;551;640;708;709;709;708	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	T	640;604;539;709;551	ENSP00000415895:A640T;ENSP00000404545:A539T;ENSP00000292123:A709T;ENSP00000438880:A551T	ENSP00000292123:A709T	A	+	1	0	SAFB	5612791	0.012000	0.17670	0.075000	0.20258	0.794000	0.44872	1.198000	0.32223	2.490000	0.84030	0.455000	0.32223	GCG	SAFB	-	NULL	ENSG00000160633		0.662	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	-	0.00	76	0	G			5661791	+1	tier1	-	no_errors	ENST00000588852	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.557	A
PRKACA	5566	genome.wustl.edu	37	19	14199586	14199586	+	IGR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14199586C>T	ENST00000308677.4	-	0	2677				SAMD1_ENST00000541938.1_5'Flank|C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000533683.2_Missense_Mutation_p.R346H|PRKACA_ENST00000350356.3_5'Flank	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CTTCTCTTTGCGCCCGGGACT	0.542																																																	0													44.0	48.0	47.0					19																	14199586		2076	4200	6276	SO:0001628	intergenic_variant	0				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612			19.37:g.14199586C>T			Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R346H	ENST00000308677.4	37	c.1037	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158606	0.78226	.	.	ENSG00000141858	ENST00000533683;ENST00000269724	T	0.44881	0.91	5.02	5.02	0.67125	.	0.217487	0.34802	N	0.003675	T	0.35068	0.0919	N	0.03608	-0.345	0.34904	D	0.74681	D	0.71674	0.998	P	0.57324	0.818	T	0.54925	-0.8220	10	0.49607	T	0.09	-16.6705	13.828	0.63361	0.0:1.0:0.0:0.0	.	346	E9PIW9	.	H	346;46	ENSP00000431971:R346H	ENSP00000269724:R46H	R	-	2	0	SAMD1	14060586	0.973000	0.33851	1.000000	0.80357	0.905000	0.53344	1.888000	0.39708	2.327000	0.79052	0.563000	0.77884	CGC	SAMD1	-	superfamily_SAM/pointed	ENSG00000141858		0.542	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD1	HGNC	protein_coding	OTTHUMT00000459004.1	-	0.00	68	0	C	NM_002730		14199586	-1	tier1	-	no_errors	ENST00000533683	ensembl	human	novel	74_37	missense	6.67	56	4	SNP	1.000	T
SAR1A	56681	genome.wustl.edu	37	10	71921648	71921648	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:71921648G>T	ENST00000373242.2	-	3	220	c.24C>A	c.(22-24)atC>atA	p.I8I	SAR1A_ENST00000373236.1_Silent_p.I8I|SAR1A_ENST00000458634.2_Intron|SAR1A_ENST00000373241.4_Silent_p.I8I|SAR1A_ENST00000373238.1_Silent_p.I8I|SAR1A_ENST00000431664.2_Silent_p.I8I|SAR1A_ENST00000477464.1_5'UTR	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	8					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AGCCATTGTAGATCCACTCAA	0.363																																																	0													77.0	72.0	74.0					10																	71921648		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.24C>A	10.37:g.71921648G>T			B4DQ19	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I8	ENST00000373242.2	37	c.24	CCDS7298.1	10																																																																																			SAR1A	-	smart_Small_GTPase_ARF	ENSG00000079332		0.363	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	SAR1A	HGNC	protein_coding	OTTHUMT00000048500.2	-	0.00	30	0	G			71921648	-1	tier1	-	no_errors	ENST00000373238	ensembl	human	known	74_37	silent	25.00	27	9	SNP	1.000	T
SASH1	23328	genome.wustl.edu	37	6	148711274	148711274	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:148711274G>A	ENST00000367467.3	+	2	636	c.161G>A	c.(160-162)gGt>gAt	p.G54D	SASH1_ENST00000367469.1_Missense_Mutation_p.G9D	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	54					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTTCAGGACGGTTCACTGGGA	0.532																																																	0													155.0	147.0	150.0					6																	148711274		2203	4300	6503	SO:0001583	missense	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.161G>A	6.37:g.148711274G>A	ENSP00000356437:p.Gly54Asp		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.G54D	ENST00000367467.3	37	c.161	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	g	20.3	3.967491	0.74131	.	.	ENSG00000111961	ENST00000367469;ENST00000367467;ENST00000392284	T	0.13420	2.59	4.55	4.55	0.56014	.	0.056558	0.64402	D	0.000001	T	0.18676	0.0448	L	0.34521	1.04	0.58432	D	0.999993	D	0.89917	1.0	D	0.67103	0.949	T	0.03852	-1.0998	10	0.87932	D	0	-13.9447	17.6938	0.88276	0.0:0.0:1.0:0.0	.	54	O94885	SASH1_HUMAN	D	9;54;8	ENSP00000356437:G54D	ENSP00000356437:G54D	G	+	2	0	SASH1	148752967	1.000000	0.71417	0.734000	0.30879	0.502000	0.33828	9.319000	0.96338	2.235000	0.73313	0.591000	0.81541	GGT	SASH1	-	NULL	ENSG00000111961		0.532	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	-	0.00	66	0	G	NM_015278		148711274	+1	tier1	-	no_errors	ENST00000367467	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	A
SASH1	23328	genome.wustl.edu	37	6	148865156	148865156	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:148865156G>A	ENST00000367467.3	+	18	3025	c.2550G>A	c.(2548-2550)gaG>gaA	p.E850E		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	850					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTGGTGCTGAGCAAGACGTGC	0.627																																																	0													132.0	141.0	138.0					6																	148865156		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2550G>A	6.37:g.148865156G>A			Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E850	ENST00000367467.3	37	c.2550	CCDS5212.1	6																																																																																			SASH1	-	NULL	ENSG00000111961		0.627	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1		0.00	40	0	G	NM_015278		148865156	+1			no_errors	ENST00000367467	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.000	A
SATL1	340562	genome.wustl.edu	37	X	84363925	84363925	+	5'UTR	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:84363925G>T	ENST00000395409.3	-	0	49				SATL1_ENST00000509231.1_Missense_Mutation_p.A17E|SATL1_ENST00000332921.5_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTTATGCCTGCTTGGTTCGA	0.458											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													360.0	226.0	267.0					X																	84363925		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.-512C>A	X.37:g.84363925G>T		1228	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.A17E	ENST00000395409.3	37	c.50		X	.	.	.	.	.	.	.	.	.	.	G	1.400	-0.578468	0.03854	.	.	ENSG00000184788	ENST00000509231	T	0.41065	1.01	3.37	-1.36	0.09085	.	.	.	.	.	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21042	-1.0257	8	.	.	.	.	0.2059	0.00150	0.2449:0.1645:0.2554:0.3352	.	17	E9PB72	.	E	17	ENSP00000425421:A17E	.	A	-	2	0	SATL1	84250581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.218000	0.09240	-0.196000	0.10366	-0.494000	0.04653	GCA	SATL1	-	NULL	ENSG00000184788		0.458	SATL1-202	KNOWN	basic|appris_principal	protein_coding	SATL1	HGNC	protein_coding		-	0.00	87	0	G	XM_291339		84363925	-1	tier1	-	no_errors	ENST00000509231	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.000	T
SBNO1	55206	genome.wustl.edu	37	12	123798226	123798226	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:123798226A>G	ENST00000602398.1	-	24	3288	c.3161T>C	c.(3160-3162)gTa>gCa	p.V1054A	SBNO1_ENST00000267176.4_Missense_Mutation_p.V1053A|SBNO1_ENST00000602750.1_Missense_Mutation_p.V1053A|SBNO1_ENST00000420886.2_Missense_Mutation_p.V1054A			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1054					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATCCAAGTTTACAATGGATTT	0.318																																																	0													75.0	76.0	75.0					12																	123798226		2203	4300	6503	SO:0001583	missense	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3161T>C	12.37:g.123798226A>G	ENSP00000473665:p.Val1054Ala		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like	p.V1054A	ENST00000602398.1	37	c.3161	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	A	21.9	4.219930	0.79464	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.31510	1.49;1.49	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.28699	0.0711	N	0.20845	0.615	0.58432	D	0.999994	P;P;B	0.47034	0.889;0.865;0.004	P;P;B	0.51866	0.682;0.554;0.016	T	0.02781	-1.1111	10	0.07482	T	0.82	-18.2982	15.6824	0.77381	1.0:0.0:0.0:0.0	.	1054;1053;165	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	A	1054;1053	ENSP00000387361:V1054A;ENSP00000267176:V1053A	ENSP00000267176:V1053A	V	-	2	0	SBNO1	122364179	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.006000	0.93592	2.116000	0.64780	0.482000	0.46254	GTA	SBNO1	-	NULL	ENSG00000139697		0.318	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1		0.00	35	0	A	NM_018183		123798226	-1			no_errors	ENST00000420886	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	G
SCAP	22937	genome.wustl.edu	37	3	47460943	47460943	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:47460943C>A	ENST00000265565.5	-	13	2227	c.1815G>T	c.(1813-1815)gaG>gaT	p.E605D	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Missense_Mutation_p.E350D|SCAP_ENST00000545718.1_Missense_Mutation_p.E213D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	605					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CATGGACAACCTCTGCTGGAC	0.602																																					Pancreas(149;978 1908 29304 37806 46700)												0													92.0	86.0	88.0					3																	47460943		2203	4300	6503	SO:0001583	missense	0			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1815G>T	3.37:g.47460943C>A	ENSP00000265565:p.Glu605Asp		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E605D	ENST00000265565.5	37	c.1815	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	C	8.060	0.768012	0.15983	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.80214	-1.35;-1.3;0.82	4.48	1.68	0.24146	.	1.172010	0.06252	N	0.692273	T	0.69024	0.3065	L	0.35854	1.095	0.23386	N	0.997788	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.47898	-0.9081	10	0.12766	T	0.61	-16.3724	5.8546	0.18712	0.0:0.6151:0.1411:0.2438	.	350;605	F8W921;Q12770	.;SCAP_HUMAN	D	232;605;350;213	ENSP00000265565:E605D;ENSP00000416847:E350D;ENSP00000438956:E213D	ENSP00000265565:E605D	E	-	3	2	SCAP	47435947	0.001000	0.12720	0.525000	0.27900	0.621000	0.37620	0.133000	0.15912	0.150000	0.19136	0.462000	0.41574	GAG	SCAP	-	NULL	ENSG00000114650		0.602	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	-	0.00	44	0	C	NM_012235		47460943	-1	tier1	-	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.985	A
TMEM167A	153339	genome.wustl.edu	37	5	82360128	82360128	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:82360128G>T	ENST00000502346.1	-	2	286				TMEM167A_ENST00000511450.1_Intron|SCARNA18_ENST00000459004.1_RNA	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2						TGCTCCCAAGGAATGAGAAGC	0.373																																																	0													52.0	47.0	48.0					5																	82360128		876	1991	2867	SO:0001627	intron_variant	0			BC107575, AK055070	CCDS34198.1	5q14.2	2008-06-06	2008-06-06	2008-06-06	ENSG00000174695	ENSG00000174695			28330	protein-coding gene	gene with protein product			"""transmembrane protein 167"""	TMEM167		1316117	Standard	NM_174909		Approved	FLJ30508, MGC23909	uc003khx.4	Q8TBQ9	OTTHUMG00000162570	ENST00000502346.1:c.113+698C>A	5.37:g.82360128G>T			Q0P692	RNA	SNP	-	NULL	ENST00000502346.1	37	NULL	CCDS34198.1	5																																																																																			SCARNA18	-	-	ENSG00000238835		0.373	TMEM167A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARNA18	HGNC	protein_coding	OTTHUMT00000369631.2	-	0.00	29	0	G	NM_174909		82360128	-1	tier1	-	no_errors	ENST00000459004	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.000	T
SCD5	79966	genome.wustl.edu	37	4	83582061	83582061	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:83582061G>T	ENST00000319540.4	-	3	889				SCD5_ENST00000273908.4_Missense_Mutation_p.R247S	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5						fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GAAAGAGCACGCAGCATCAAG	0.448																																																	0													157.0	151.0	153.0					4																	83582061		2203	4300	6503	SO:0001627	intron_variant	0			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.569+19798C>A	4.37:g.83582061G>T			B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.R247S	ENST00000319540.4	37	c.739	CCDS34024.1	4	.	.	.	.	.	.	.	.	.	.	G	7.216	0.596489	0.13875	.	.	ENSG00000145284	ENST00000273908	.	.	.	3.92	0.238	0.15480	.	.	.	.	.	T	0.28333	0.0700	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.17098	0.017	T	0.29701	-1.0003	7	0.87932	D	0	.	3.9205	0.09242	0.2963:0.1819:0.5218:0.0	.	247	Q86SK9-2	.	S	247	.	ENSP00000273908:R247S	R	-	1	0	SCD5	83801085	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.041000	0.13927	0.008000	0.14787	0.585000	0.79938	CGT	SCD5	-	NULL	ENSG00000145284		0.448	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	-	0.00	93	0	G	NM_024906		83582061	-1	tier1	-	no_errors	ENST00000273908	ensembl	human	known	74_37	missense	32.26	42	20	SNP	0.000	T
SCD5	79966	genome.wustl.edu	37	4	83601945	83601945	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:83601945G>A	ENST00000319540.4	-	3	803	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	SCD5_ENST00000273908.4_Missense_Mutation_p.R162C	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	162					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CGATGCTTGCGAACAAACAGC	0.547																																																	0													115.0	116.0	116.0					4																	83601945		2203	4300	6503	SO:0001583	missense	0			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.484C>T	4.37:g.83601945G>A	ENSP00000316329:p.Arg162Cys		B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.R162C	ENST00000319540.4	37	c.484	CCDS34024.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305453	0.81247	.	.	ENSG00000145284	ENST00000319540;ENST00000273908	T;T	0.14516	2.5;2.5	5.27	4.43	0.53597	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.66638	-0.5873	10	0.87932	D	0	-10.4342	14.3888	0.66963	0.0717:0.0:0.9283:0.0	.	162;162	Q86SK9-2;Q86SK9	.;SCD5_HUMAN	C	162	ENSP00000316329:R162C;ENSP00000273908:R162C	ENSP00000273908:R162C	R	-	1	0	SCD5	83820969	1.000000	0.71417	0.955000	0.39395	0.764000	0.43329	6.519000	0.73768	1.435000	0.47434	0.467000	0.42956	CGC	SCD5	-	pfam_Fatty_acid_desaturase-1	ENSG00000145284		0.547	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1		0.00	38	0	G	NM_024906		83601945	-1			no_errors	ENST00000319540	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	A
SCFD1	23256	genome.wustl.edu	37	14	31091582	31091582	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:31091582C>T	ENST00000458591.2	+	1	265	c.38C>T	c.(37-39)gCc>gTc	p.A13V	SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000421551.3_5'UTR|SCFD1_ENST00000544052.2_5'UTR|SCFD1_ENST00000541123.1_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	13	Poly-Ala.				post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		gcagcagcagcCAGTATTCGG	0.637																																																	0													62.0	43.0	49.0					14																	31091582		2128	4146	6274	SO:0001583	missense	0			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.38C>T	14.37:g.31091582C>T	ENSP00000390783:p.Ala13Val		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.A13V	ENST00000458591.2	37	c.38	CCDS9639.1	14	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548402	0.65311	.	.	ENSG00000092108	ENST00000458591	T	0.28666	1.6	5.45	4.54	0.55810	.	0.174741	0.49305	D	0.000149	T	0.15739	0.0379	N	0.08118	0	0.38986	D	0.959043	B	0.13594	0.008	B	0.14023	0.01	T	0.09378	-1.0677	10	0.17369	T	0.5	-11.883	12.4075	0.55449	0.0:0.8308:0.1692:0.0	.	13	Q8WVM8	SCFD1_HUMAN	V	13	ENSP00000390783:A13V	ENSP00000309417:A21V	A	+	2	0	SCFD1	30161333	0.266000	0.24112	0.043000	0.18650	0.816000	0.46133	0.145000	0.16157	1.385000	0.46445	0.655000	0.94253	GCC	SCFD1	-	superfamily_Sec1-like	ENSG00000092108		0.637	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD1	HGNC	protein_coding	OTTHUMT00000276612.3	-	0.00	91	0	C	NM_182835		31091582	+1	tier1	-	no_errors	ENST00000458591	ensembl	human	known	74_37	missense	12.36	78	11	SNP	0.068	T
SCFD1	23256	genome.wustl.edu	37	14	31107414	31107414	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:31107414T>C	ENST00000458591.2	+	5	623	c.396T>C	c.(394-396)aaT>aaC	p.N132N	SCFD1_ENST00000396629.2_Silent_p.N40N|SCFD1_ENST00000421551.3_Silent_p.N73N|SCFD1_ENST00000544052.2_Silent_p.N65N|SCFD1_ENST00000541123.1_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	132					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATATTGCAAATGCAGCGTTAG	0.318																																																	0													68.0	62.0	64.0					14																	31107414		2203	4300	6503	SO:0001819	synonymous_variant	0			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.396T>C	14.37:g.31107414T>C			A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.N132	ENST00000458591.2	37	c.396	CCDS9639.1	14																																																																																			SCFD1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000092108		0.318	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD1	HGNC	protein_coding	OTTHUMT00000276612.3	-	0.00	53	0	T	NM_182835		31107414	+1	tier1	-	no_errors	ENST00000458591	ensembl	human	known	74_37	silent	25.00	36	12	SNP	1.000	C
SCGB2B2	284402	genome.wustl.edu	37	19	35084404	35084404	+	3'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:35084404C>T	ENST00000601241.1	-	0	2447				SCGB2B2_ENST00000379204.2_3'UTR|SCGB2B2_ENST00000595326.1_5'UTR			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2							extracellular region (GO:0005576)											GCCAGGAACGCGGGGAGCCCC	0.552																																																	0													61.0	66.0	65.0					19																	35084404		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.*56G>A	19.37:g.35084404C>T				RNA	SNP	-	NULL	ENST00000601241.1	37	NULL	CCDS32989.1	19																																																																																			SCGB2B2	-	-	ENSG00000205209		0.552	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2B2	HGNC	protein_coding	OTTHUMT00000461457.2	-	0.00	20	0	C	NM_001025591		35084404	-1	tier1	-	no_errors	ENST00000595326	ensembl	human	known	74_37	rna	33.33	8	4	SNP	0.001	T
SCN3A	6328	genome.wustl.edu	37	2	165948847	165948847	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:165948847A>G	ENST00000360093.3	-	27	5215	c.4724T>C	c.(4723-4725)cTg>cCg	p.L1575P	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1575P|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1526P|SCN3A_ENST00000540861.1_Missense_Mutation_p.L58P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1575					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACGAGCTTCAGCACAAATTC	0.443																																																	0													157.0	132.0	140.0					2																	165948847		2203	4300	6503	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4724T>C	2.37:g.165948847A>G	ENSP00000353206:p.Leu1575Pro		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.L1575P	ENST00000360093.3	37	c.4724		2	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377821	0.82682	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000014	D	0.99654	0.9872	H	0.99074	4.42	0.80722	D	1	D;D;B	0.89917	1.0;0.999;0.383	D;D;B	0.91635	0.999;0.996;0.14	D	0.97321	0.9944	10	0.87932	D	0	.	16.4053	0.83662	1.0:0.0:0.0:0.0	.	1526;1526;1575	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	P	1575;1575;1526;58	ENSP00000353206:L1575P;ENSP00000283254:L1575P;ENSP00000386726:L1526P;ENSP00000439920:L58P	ENSP00000283254:L1575P	L	-	2	0	SCN3A	165657093	1.000000	0.71417	0.992000	0.48379	0.749000	0.42624	7.256000	0.78350	2.333000	0.79357	0.482000	0.46254	CTG	SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.443	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0.00	63	0	A	NM_006922		165948847	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	9.30	78	8	SNP	1.000	G
SCN2A	6326	genome.wustl.edu	37	2	166171983	166171983	+	Silent	SNP	G	G	A	rs145912536		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:166171983G>A	ENST00000375437.2	+	11	1676	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	SCN2A_ENST00000283256.6_Silent_p.A462A|SCN2A_ENST00000357398.3_Silent_p.A462A|SCN2A_ENST00000375427.2_Silent_p.A462A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	462					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTCTAGGCGGCAGCTGCAG	0.413																																																	0								G	,,	0,4406		0,0,2203	54.0	60.0	58.0		1386,1386,1386	3.4	1.0	2	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SCN2A	NM_001040142.1,NM_001040143.1,NM_021007.2	,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,	462/2006,462/2006,462/2006	166171983	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1386G>A	2.37:g.166171983G>A			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.A462	ENST00000375437.2	37	c.1386	CCDS33314.1	2																																																																																			SCN2A	-	NULL	ENSG00000136531		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0.00	69	0	G	NM_021007		166171983	+1	tier1	rs145912536	no_errors	ENST00000283256	ensembl	human	known	74_37	silent	19.05	34	8	SNP	1.000	A
SCLY	51540	genome.wustl.edu	37	2	238991922	238991922	+	Nonsense_Mutation	SNP	C	C	T	rs367978630		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:238991922C>T	ENST00000555827.1	+	7	875	c.811C>T	c.(811-813)Cga>Tga	p.R271*	SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Nonsense_Mutation_p.R189*|SCLY_ENST00000409736.2_Nonsense_Mutation_p.R271*|SCLY_ENST00000254663.6_Nonsense_Mutation_p.R279*|SCLY_ENST00000422984.2_Nonsense_Mutation_p.R177*			Q96I15	SCLY_HUMAN	selenocysteine lyase	271					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ACTTTATATACGAGGACTTGG	0.423																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)												0								C	stop/ARG	0,4406		0,0,2203	181.0	165.0	171.0		835	4.9	0.3	2		171	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	SCLY	NM_016510.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		279/454	238991922	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.811C>T	2.37:g.238991922C>T	ENSP00000450613:p.Arg271*		B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Nonsense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS	p.R279*	ENST00000555827.1	37	c.835		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.786252|2.786252	0.49997|0.49997	0.0|0.0	1.16E-4|1.16E-4	ENSG00000132330|ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000450965|ENST00000437134	.|.	.|.	.|.	5.79|5.79	4.9|4.9	0.64082|0.64082	.|.	0.193757|.	0.44483|.	D|.	0.000450|.	.|T	.|0.68952	.|0.3057	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67933	.|-0.5542	.|4	0.02654|.	T|.	1|.	-17.5691|-17.5691	12.9041|12.9041	0.58141|0.58141	0.2954:0.7046:0.0:0.0|0.2954:0.7046:0.0:0.0	.|.	.|.	.|.	.|.	X|M	279;271;189;271;177;101|114	.|.	ENSP00000254663:R271X|.	R|T	+|+	1|2	2|0	SCLY|SCLY	238656661|238656661	0.999000|0.999000	0.42202|0.42202	0.327000|0.327000	0.25402|0.25402	0.051000|0.051000	0.14879|0.14879	4.315000|4.315000	0.59172|0.59172	1.425000|1.425000	0.47237|0.47237	0.655000|0.655000	0.94253|0.94253	CGA|ACG	SCLY	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS	ENSG00000132330		0.423	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	SCLY	HGNC	protein_coding		-	0.00	67	0	C	NM_016510		238991922	+1	tier1	-	no_errors	ENST00000254663	ensembl	human	known	74_37	nonsense	10.91	49	6	SNP	0.911	T
SCN3B	55800	genome.wustl.edu	37	11	123516402	123516402	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:123516402C>A	ENST00000392770.2	-	2	914	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C	SCN3B_ENST00000530277.1_Missense_Mutation_p.G38C|SCN3B_ENST00000299333.3_Missense_Mutation_p.G38C	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	38	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGGGTTGCCCTGCACGGCC	0.607																																																	0													110.0	106.0	108.0					11																	123516402		2202	4299	6501	SO:0001583	missense	0			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.112G>T	11.37:g.123516402C>A	ENSP00000376523:p.Gly38Cys		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.G38C	ENST00000392770.2	37	c.112	CCDS8442.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746335	0.89663	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	5.96	5.96	0.96718	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91425	0.7294	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91683	0.5360	10	0.87932	D	0	-6.6827	20.4182	0.99029	0.0:1.0:0.0:0.0	.	38	Q9NY72	SCN3B_HUMAN	C	38	ENSP00000376523:G38C;ENSP00000299333:G38C;ENSP00000432785:G38C;ENSP00000435554:G38C;ENSP00000434363:G38C	ENSP00000299333:G38C	G	-	1	0	SCN3B	123021612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.966000	0.49208	2.820000	0.97059	0.609000	0.83330	GGC	SCN3B	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000166257		0.607	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN3B	HGNC	protein_coding	OTTHUMT00000387412.1	-	0.00	31	0	C	NM_018400		123516402	-1	tier1	-	no_errors	ENST00000299333	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	A
SCN4A	6329	genome.wustl.edu	37	17	62018159	62018159	+	Missense_Mutation	SNP	C	C	T	rs201555161	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:62018159C>T	ENST00000435607.1	-	24	5559	c.5483G>A	c.(5482-5484)cGc>cAc	p.R1828H	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1828H	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1828					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACACCTGGGCGCACAGTCTG	0.672													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17827	0.0		0.0	False		,,,				2504	0.0																0													37.0	46.0	43.0					17																	62018159		2048	4189	6237	SO:0001583	missense	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5483G>A	17.37:g.62018159C>T	ENSP00000396320:p.Arg1828His		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.R1828H	ENST00000435607.1	37	c.5483	CCDS45761.1	17	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	8.938	0.965073	0.18583	.	.	ENSG00000007314	ENST00000435607	D	0.96554	-4.05	4.32	4.32	0.51571	.	1.836130	0.02649	N	0.106191	D	0.92107	0.7498	N	0.08118	0	0.29871	N	0.82685	B	0.12630	0.006	B	0.04013	0.001	T	0.78463	-0.2194	10	0.30078	T	0.28	.	14.4789	0.67567	0.0:1.0:0.0:0.0	.	1828	P35499	SCN4A_HUMAN	H	1828	ENSP00000396320:R1828H	ENSP00000396320:R1828H	R	-	2	0	SCN4A	59371891	0.971000	0.33674	0.995000	0.50966	0.021000	0.10359	1.417000	0.34770	2.399000	0.81585	0.561000	0.74099	CGC	SCN4A	-	NULL	ENSG00000007314		0.672	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding			0.00	43	0	C	NM_000334		62018159	-1			no_errors	ENST00000435607	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.951	T
SCN4A	6329	genome.wustl.edu	37	17	62045456	62045456	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:62045456G>A	ENST00000435607.1	-	6	1039	c.963C>T	c.(961-963)aaC>aaT	p.N321N	SCN4A_ENST00000578147.1_Silent_p.N321N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	321					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCACGTGTCGTTGGCATACC	0.527																																																	0													337.0	329.0	332.0					17																	62045456		2165	4264	6429	SO:0001819	synonymous_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.963C>T	17.37:g.62045456G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.N321	ENST00000435607.1	37	c.963	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom	ENSG00000007314		0.527	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0.00	59	0	G	NM_000334		62045456	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	silent	60.34	23	35	SNP	0.820	A
SCN5A	6331	genome.wustl.edu	37	3	38622707	38622707	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:38622707G>A	ENST00000333535.4	-	17	3092	c.2943C>T	c.(2941-2943)tgC>tgT	p.C981C	SCN5A_ENST00000450102.2_Silent_p.C981C|SCN5A_ENST00000451551.2_Silent_p.C981C|SCN5A_ENST00000443581.1_Silent_p.C981C|SCN5A_ENST00000425664.1_Silent_p.C981C|SCN5A_ENST00000413689.1_Silent_p.C981C|SCN5A_ENST00000414099.2_Silent_p.C981C|SCN5A_ENST00000449557.2_Silent_p.C981C|SCN5A_ENST00000423572.2_Silent_p.C981C|SCN5A_ENST00000455624.2_Silent_p.C981C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	981					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAGACCACAGCAGAAATCCC	0.677																																																	0													16.0	18.0	18.0					3																	38622707		1945	4141	6086	SO:0001819	synonymous_variant	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2943C>T	3.37:g.38622707G>A			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.C981	ENST00000333535.4	37	c.2943	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Na_trans_assoc,prints_Na_channel_a5su	ENSG00000183873		0.677	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0.00	37	0	G	NM_198056		38622707	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	silent	21.88	25	7	SNP	1.000	A
SCN7A	6332	genome.wustl.edu	37	2	167279923	167279924	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:167279923_167279924delAT	ENST00000409855.1	-	18	2998_2999	c.2872_2873delAT	c.(2872-2874)atgfs	p.M958fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	958			M -> I (in dbSNP:rs6738031). {ECO:0000269|PubMed:1317577}.		membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCTCTGATCCATATATATATCT	0.277																																																	0																																										SO:0001589	frameshift_variant	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2872_2873delAT	2.37:g.167279931_167279932delAT	ENSP00000386796:p.Met958fs			Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.M958fs	ENST00000409855.1	37	c.2873_2872	CCDS46442.1	2																																																																																			SCN7A	-	NULL	ENSG00000136546		0.277	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1		0.00	32	0	AT			167279924	-1	tier1		no_errors	ENST00000409855	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	1.000:1.000	-
SCN9A	6335	genome.wustl.edu	37	2	167055647	167055647	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:167055647G>A	ENST00000409435.1	-	26	5501	c.5502C>T	c.(5500-5502)gaC>gaT	p.D1834D	SCN9A_ENST00000409672.1_Silent_p.D1823D|SCN9A_ENST00000375387.4_Silent_p.D1835D|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.D1835D			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1834					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATGGATCCGGTCACCACTAA	0.463																																																	0													125.0	125.0	125.0					2																	167055647		2203	4300	6503	SO:0001819	synonymous_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5502C>T	2.37:g.167055647G>A			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.D1835	ENST00000409435.1	37	c.5505	CCDS46441.1	2																																																																																			SCN9A	-	NULL	ENSG00000169432		0.463	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0.00	88	0	G	NM_002977		167055647	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	silent	23.81	64	20	SNP	1.000	A
SCN9A	6335	genome.wustl.edu	37	2	167134703	167134703	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:167134703C>T	ENST00000409435.1	-	14	2463	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	SCN9A_ENST00000409672.1_Missense_Mutation_p.E811K|SCN9A_ENST00000375387.4_Missense_Mutation_p.E823K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.E823K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	822					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGAAAGAGCTCCACTAAACTT	0.363																																																	0													81.0	79.0	80.0					2																	167134703		1923	4181	6104	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2464G>A	2.37:g.167134703C>T	ENSP00000386330:p.Glu822Lys		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E823K	ENST00000409435.1	37	c.2467	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041543	0.93685	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000007	D	0.99171	0.9713	H	0.95260	3.645	0.58432	D	0.99999	D	0.67145	0.996	D	0.66351	0.943	D	0.99060	1.0830	10	0.87932	D	0	.	14.4578	0.67428	0.0:0.9266:0.0:0.0734	.	811	E7EUN6	.	K	811;823;823;822	ENSP00000386306:E811K;ENSP00000364536:E823K;ENSP00000304748:E823K;ENSP00000386330:E822K	ENSP00000304748:E823K	E	-	1	0	SCN9A	166842949	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.756000	0.85195	2.583000	0.87209	0.655000	0.94253	GAG	SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.363	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1		0.00	63	0	C	NM_002977		167134703	-1			no_errors	ENST00000303354	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	T
SCNN1D	6339	genome.wustl.edu	37	1	1222275	1222275	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1222275delC	ENST00000338555.2	+	5	1691	c.547delC	c.(547-549)cccfs	p.P184fs	SCNN1D_ENST00000325425.8_Frame_Shift_Del_p.P250fs|SCNN1D_ENST00000400928.3_Frame_Shift_Del_p.P184fs|SCNN1D_ENST00000379116.5_Frame_Shift_Del_p.P348fs			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	184					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CCGCCACGAGCCCCCCTTCCA	0.657																																																	0													33.0	44.0	40.0					1																	1222275		2193	4294	6487	SO:0001589	frameshift_variant	0			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.547delC	1.37:g.1222275delC	ENSP00000339504:p.Pro184fs		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Frame_Shift_Del	DEL	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.F349fs	ENST00000338555.2	37	c.1039		1																																																																																			SCNN1D	-	pfam_Na+channel_ASC,tigrfam_EnaC	ENSG00000162572		0.657	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2		0.00	78	0	C	NM_002978		1222275	+1	tier1		no_errors	ENST00000379116	ensembl	human	known	74_37	frame_shift_del	19.48	62	15	DEL	0.000	-
SCRIB	23513	genome.wustl.edu	37	8	144873383	144873383	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:144873383G>T	ENST00000320476.3	-	36	4849	c.4843C>A	c.(4843-4845)Cgc>Agc	p.R1615S	RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.R1640S|SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000377533.3_Missense_Mutation_p.R1534S|RP11-429J17.8_ENST00000532625.1_RNA|RP11-429J17.8_ENST00000534089.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1615					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGGGGCGGCGGCTGCTGCAC	0.711																																					Pancreas(51;966 1133 10533 14576 29674)												0													11.0	14.0	13.0					8																	144873383		2126	4195	6321	SO:0001583	missense	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4843C>A	8.37:g.144873383G>T	ENSP00000322938:p.Arg1615Ser		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R1615S	ENST00000320476.3	37	c.4843	CCDS6411.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.49|10.49	1.365877|1.365877	0.24684|0.24684	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000526832|ENST00000356994;ENST00000320476;ENST00000377533	.|T;T;T	.|0.52526	.|0.66;1.07;0.91	4.48|4.48	3.58|3.58	0.41010|0.41010	.|.	.|.	.|.	.|.	.|.	T|T	0.61677|0.61677	0.2366|0.2366	M|M	0.63428|0.63428	1.95|1.95	0.27635|0.27635	N|N	0.947903|0.947903	.|P;P;D	.|0.63880	.|0.841;0.901;0.993	.|B;P;D	.|0.64595	.|0.373;0.577;0.927	T|T	0.53683|0.53683	-0.8404|-0.8404	5|9	.|0.72032	.|D	.|0.01	.|.	10.0885|10.0885	0.42432|0.42432	0.0:0.2044:0.7956:0.0|0.0:0.2044:0.7956:0.0	.|.	.|1615;1640;1534	.|Q14160;Q14160-3;Q14160-2	.|SCRIB_HUMAN;.;.	Q|S	634|1640;1615;1534	.|ENSP00000349486:R1640S;ENSP00000322938:R1615S;ENSP00000366756:R1534S	.|ENSP00000322938:R1615S	P|R	-|-	2|1	0|0	SCRIB|SCRIB	144945371|144945371	0.941000|0.941000	0.31946|0.31946	0.969000|0.969000	0.41365|0.41365	0.122000|0.122000	0.20287|0.20287	0.954000|0.954000	0.29175|0.29175	1.058000|1.058000	0.40530|0.40530	0.486000|0.486000	0.48141|0.48141	CCG|CGC	SCRIB	-	NULL	ENSG00000180900		0.711	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1		0.00	31	0	G	NM_015356		144873383	-1			no_errors	ENST00000320476	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.993	T
SCRN2	90507	genome.wustl.edu	37	17	45915667	45915667	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:45915667T>C	ENST00000290216.9	-	7	1213	c.1088A>G	c.(1087-1089)cAg>cGg	p.Q363R	SCRN2_ENST00000407215.3_Missense_Mutation_p.Q363R|SCRN2_ENST00000584123.1_Missense_Mutation_p.Q371R	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	363						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CAGGGCTGCCTGGTGTCCACG	0.612																																																	0													61.0	62.0	62.0					17																	45915667		2203	4300	6503	SO:0001583	missense	0			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.1088A>G	17.37:g.45915667T>C	ENSP00000290216:p.Gln363Arg		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.Q363R	ENST00000290216.9	37	c.1088	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118392	0.77323	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.09445	3.15;2.98	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.30541	0.0768	M	0.65975	2.015	0.80722	D	1	D;D;D	0.69078	0.993;0.997;0.993	D;D;D	0.75484	0.968;0.986;0.968	T	0.01172	-1.1429	10	0.34782	T	0.22	-27.2468	14.8687	0.70437	0.0:0.0:0.0:1.0	.	363;363;363	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	R	363	ENSP00000290216:Q363R;ENSP00000383935:Q363R	ENSP00000290216:Q363R	Q	-	2	0	SCRN2	43270666	1.000000	0.71417	0.998000	0.56505	0.618000	0.37518	7.185000	0.77714	2.160000	0.67779	0.533000	0.62120	CAG	SCRN2	-	NULL	ENSG00000141295		0.612	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	-	0.00	64	0	T	NM_138355		45915667	-1	tier1	-	no_errors	ENST00000290216	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	C
SCUBE3	222663	genome.wustl.edu	37	6	35205687	35205687	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35205687G>A	ENST00000274938.7	+	7	721	c.721G>A	c.(721-723)Gct>Act	p.A241T	SCUBE3_ENST00000394681.1_Missense_Mutation_p.A257T	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGAGACCTGTGCTGTCAACAA	0.577																																																	0													143.0	125.0	131.0					6																	35205687		2203	4300	6503	SO:0001583	missense	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.721G>A	6.37:g.35205687G>A	ENSP00000274938:p.Ala241Thr			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.A257T	ENST00000274938.7	37	c.769	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042406	0.93685	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.96396	-4.0;-4.0	5.38	4.51	0.55191	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	L	0.47190	1.495	0.80722	D	1	D;P	0.54964	0.969;0.935	P;P	0.57009	0.811;0.494	D	0.95392	0.8482	10	0.56958	D	0.05	.	13.4901	0.61390	0.0751:0.0:0.9249:0.0	.	257;241	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	T	257;241	ENSP00000378174:A257T;ENSP00000274938:A241T	ENSP00000274938:A241T	A	+	1	0	SCUBE3	35313665	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.937000	0.87672	2.523000	0.85059	0.491000	0.48974	GCT	SCUBE3	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin	ENSG00000146197		0.577	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	-	0.00	86	0	G	NM_152753		35205687	+1	tier1	-	no_errors	ENST00000394681	ensembl	human	known	74_37	missense	14.47	65	11	SNP	1.000	A
SCUBE3	222663	genome.wustl.edu	37	6	35213121	35213121	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35213121C>T	ENST00000274938.7	+	19	2518	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R856C	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.R840C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCCACCCAAGCGCAAGATCCT	0.557																																																	1	Substitution - Missense(1)	urinary_tract(1)											111.0	102.0	105.0					6																	35213121		2203	4300	6503	SO:0001583	missense	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2518C>T	6.37:g.35213121C>T	ENSP00000274938:p.Arg840Cys			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.R856C	ENST00000274938.7	37	c.2566	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457467	0.84317	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.35236	1.32;1.32	5.44	5.44	0.79542	CUB (5);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.58629	-0.7603	10	0.87932	D	0	.	13.4743	0.61299	0.2748:0.7252:0.0:0.0	.	856;840	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	C	856;840	ENSP00000378174:R856C;ENSP00000274938:R840C	ENSP00000274938:R840C	R	+	1	0	SCUBE3	35321099	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.053000	0.49901	2.558000	0.86282	0.655000	0.94253	CGC	SCUBE3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000146197		0.557	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	-	0.00	77	0	C	NM_152753		35213121	+1	tier1	-	no_errors	ENST00000394681	ensembl	human	known	74_37	missense	34.94	54	29	SNP	1.000	T
SDC1	6382	genome.wustl.edu	37	2	20402090	20402090	+	3'UTR	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:20402090delC	ENST00000254351.4	-	0	1614				SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000381150.1_3'UTR	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1						canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TCAGCGGCCACCCCCCCAAGA	0.532																																																	0													30.0	29.0	29.0					2																	20402090		876	1991	2867	SO:0001624	3_prime_UTR_variant	0			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.*437G>-	2.37:g.20402090delC			D6W523|Q53QV0|Q546D3|Q96HB7	RNA	DEL	-	NULL	ENST00000254351.4	37	NULL	CCDS1697.1	2																																																																																			SDC1	-	-	ENSG00000115884		0.532	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC1	HGNC	protein_coding	OTTHUMT00000207495.1		0.00	47	0	C	NM_001006946		20402090	-1	tier1		no_errors	ENST00000482879	ensembl	human	known	74_37	rna	13.16	33	5	DEL	0.000	-
SDC3	9672	genome.wustl.edu	37	1	31351475	31351475	+	Missense_Mutation	SNP	G	G	A	rs549486633		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:31351475G>A	ENST00000339394.6	-	2	425	c.251C>T	c.(250-252)tCg>tTg	p.S84L	SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000336798.7_5'UTR	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	84					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S84L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CTTACAGCCCGAGCCCGACCC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18625	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)											88.0	81.0	83.0					1																	31351475		2203	4300	6503	SO:0001583	missense	0			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.251C>T	1.37:g.31351475G>A	ENSP00000344468:p.Ser84Leu		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	pfam_Syndecan/Neurexin_dom,smart_Neurexin-like	p.S84L	ENST00000339394.6	37	c.251	CCDS30661.1	1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664935	0.67700	.	.	ENSG00000162512	ENST00000339394	T	0.33216	1.42	5.01	5.01	0.66863	.	0.251943	0.27927	N	0.017296	T	0.45296	0.1335	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49707	-0.8911	10	0.87932	D	0	-12.5059	18.3315	0.90271	0.0:0.0:1.0:0.0	.	84	O75056	SDC3_HUMAN	L	84	ENSP00000344468:S84L	ENSP00000344468:S84L	S	-	2	0	SDC3	31124062	1.000000	0.71417	0.998000	0.56505	0.570000	0.35934	6.861000	0.75478	2.339000	0.79563	0.561000	0.74099	TCG	SDC3	-	pfam_Syndecan/Neurexin_dom	ENSG00000162512		0.607	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC3	HGNC	protein_coding	OTTHUMT00000102017.1	-	0.00	42	0	G	NM_014654		31351475	-1	tier1	-	no_errors	ENST00000339394	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	A
SDK2	54549	genome.wustl.edu	37	17	71344794	71344794	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:71344794T>C	ENST00000392650.3	-	44	6109	c.6109A>G	c.(6109-6111)Atc>Gtc	p.I2037V	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.I2018V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2037					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCTGCAGGGATGAGGTCGTTG	0.647																																																	0													76.0	66.0	69.0					17																	71344794		2203	4299	6502	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6109A>G	17.37:g.71344794T>C	ENSP00000376421:p.Ile2037Val		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.I2037V	ENST00000392650.3	37	c.6109	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	T	5.943	0.357914	0.11239	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.58060	0.36;0.39;1.66	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	N	0.03194	-0.395	0.48571	D	0.999676	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.18871	-1.0323	10	0.05436	T	0.98	.	13.3621	0.60663	0.0:0.0:0.0:1.0	.	2037;2018	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	V	1661;2037;2018;1194;2037;378	ENSP00000376421:I2037V;ENSP00000373378:I2018V;ENSP00000407098:I1194V	ENSP00000324967:I2037V	I	-	1	0	SDK2	68856389	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.903000	0.63272	1.789000	0.52484	0.460000	0.39030	ATC	SDK2	-	NULL	ENSG00000069188		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	-	0.00	45	0	T	NM_019064		71344794	-1	tier1	-	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	C
SEC24A	10802	genome.wustl.edu	37	5	134050782	134050782	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:134050782C>T	ENST00000398844.2	+	19	3084	c.2796C>T	c.(2794-2796)aaC>aaT	p.N932N	RNU6-757P_ENST00000410334.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	932					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGTGAAAAACCAGCCCTTGG	0.408																																																	0													155.0	143.0	147.0					5																	134050782		1874	4105	5979	SO:0001819	synonymous_variant	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2796C>T	5.37:g.134050782C>T			A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.N932	ENST00000398844.2	37	c.2796	CCDS43363.1	5																																																																																			SEC24A	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom	ENSG00000113615		0.408	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	-	0.00	46	0	C			134050782	+1	tier1	-	no_errors	ENST00000398844	ensembl	human	known	74_37	silent	12.12	58	8	SNP	0.994	T
SEC31B	25956	genome.wustl.edu	37	10	102256019	102256019	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:102256019G>A	ENST00000370345.3	-	18	2403	c.2306C>T	c.(2305-2307)gCt>gTt	p.A769V	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	769					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTTACCTGAGCACAGTCCCT	0.537																																																	0													86.0	74.0	78.0					10																	102256019		2203	4300	6503	SO:0001583	missense	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2306C>T	10.37:g.102256019G>A	ENSP00000359370:p.Ala769Val		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A769V	ENST00000370345.3	37	c.2306	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847882	0.51164	.	.	ENSG00000075826	ENST00000370345	T	0.53206	0.63	5.9	-0.794	0.10918	.	1.013270	0.07862	N	0.966459	T	0.38295	0.1035	L	0.55481	1.735	0.23568	N	0.9974	B;B	0.15719	0.014;0.008	B;B	0.25405	0.06;0.027	T	0.44050	-0.9353	10	0.51188	T	0.08	0.1152	0.7059	0.00916	0.2874:0.1047:0.2855:0.3224	.	768;769	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	V	769	ENSP00000359370:A769V	ENSP00000359370:A769V	A	-	2	0	SEC31B	102246009	0.875000	0.30112	0.941000	0.38009	0.936000	0.57629	0.787000	0.26858	-0.104000	0.12154	0.455000	0.32223	GCT	SEC31B	-	NULL	ENSG00000075826		0.537	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	-	0.00	41	0	G	NM_015490		102256019	-1	tier1	-	no_errors	ENST00000370345	ensembl	human	known	74_37	missense	12.96	47	7	SNP	0.462	A
SEC61A1	29927	genome.wustl.edu	37	3	127774388	127774388	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:127774388C>T	ENST00000243253.3	+	3	289	c.105C>T	c.(103-105)acC>acT	p.T35T	SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Silent_p.T41T	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	35					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGCTGTGGACCGCTATCACCC	0.433																																																	0													173.0	166.0	168.0					3																	127774388		2203	4300	6503	SO:0001819	synonymous_variant	0			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.105C>T	3.37:g.127774388C>T			P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.T35	ENST00000243253.3	37	c.105	CCDS3046.1	3																																																																																			SEC61A1	-	superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	ENSG00000058262		0.433	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A1	HGNC	protein_coding	OTTHUMT00000356541.2	-	0.00	78	0	C	NM_013336		127774388	+1	tier1	-	no_errors	ENST00000243253	ensembl	human	known	74_37	silent	9.52	76	8	SNP	0.169	T
SEL1L3	23231	genome.wustl.edu	37	4	25831751	25831751	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:25831751C>A	ENST00000399878.3	-	6	1248	c.1126G>T	c.(1126-1128)Gat>Tat	p.D376Y	SEL1L3_ENST00000513364.1_5'Flank|SEL1L3_ENST00000264868.5_Missense_Mutation_p.D341Y|SEL1L3_ENST00000502949.1_Missense_Mutation_p.D223Y	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	376						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTTTCAAATCCTGTCCAATG	0.388																																																	0													130.0	123.0	125.0					4																	25831751		1909	4129	6038	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1126G>T	4.37:g.25831751C>A	ENSP00000382767:p.Asp376Tyr		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.D376Y	ENST00000399878.3	37	c.1126	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985569	0.53934	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.17370	2.28;2.28;2.28	5.51	5.51	0.81932	.	0.353818	0.33591	N	0.004745	T	0.31358	0.0794	L	0.51422	1.61	0.43536	D	0.995824	D	0.69078	0.997	P	0.57679	0.825	T	0.01202	-1.1420	10	0.87932	D	0	-21.8645	14.9183	0.70815	0.0:1.0:0.0:0.0	.	376	Q68CR1	SE1L3_HUMAN	Y	376;341;223	ENSP00000382767:D376Y;ENSP00000264868:D341Y;ENSP00000425438:D223Y	ENSP00000264868:D341Y	D	-	1	0	SEL1L3	25440849	1.000000	0.71417	0.728000	0.30774	0.392000	0.30506	2.749000	0.47492	2.575000	0.86900	0.655000	0.94253	GAT	SEL1L3	-	superfamily_ConA-like_lec_gl_sf	ENSG00000091490		0.388	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	-	0.00	100	0	C	NM_015187		25831751	-1	tier1	-	no_errors	ENST00000399878	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.997	A
CIB1	10519	genome.wustl.edu	37	15	90771824	90771824	+	IGR	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:90771824delC	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000332496.6_Frame_Shift_Del_p.C821fs|SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000411539.2_Frame_Shift_Del_p.C821fs	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)	p.C821fs*>1(1)		lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCCCAGTGTGCCCCCGGCCCC	0.632																																																	1	Deletion - Frameshift(1)	breast(1)											32.0	38.0	36.0					15																	90771824		2074	4189	6263	SO:0001628	intergenic_variant	0			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771824delC			B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Frame_Shift_Del	DEL	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.R823fs	ENST00000328649.6	37	c.2463	CCDS10360.1	15																																																																																			SEMA4B	-	NULL	ENSG00000185033		0.632	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000313419.1		0.00	57	0	C			90771824	+1	tier1		no_errors	ENST00000332496	ensembl	human	known	74_37	frame_shift_del	29.17	51	21	DEL	1.000	-
SEMA4D	10507	genome.wustl.edu	37	9	91994102	91994102	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:91994102C>T	ENST00000450295.1	-	16	2882	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	SEMA4D_ENST00000438547.2_Silent_p.A702A|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Silent_p.A702A|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A702A|SEMA4D_ENST00000339861.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	702					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGCCGGTGGGCGCAGGCTTGG	0.617																																																	0													74.0	73.0	74.0					9																	91994102		2203	4300	6503	SO:0001819	synonymous_variant	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2106G>A	9.37:g.91994102C>T			B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.A702	ENST00000450295.1	37	c.2106	CCDS6685.1	9																																																																																			SEMA4D	-	NULL	ENSG00000187764		0.617	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	-	0.00	49	0	C	NM_006378		91994102	-1	tier1	-	no_errors	ENST00000356444	ensembl	human	known	74_37	silent	19.30	45	11	SNP	0.000	T
SEMA6A	57556	genome.wustl.edu	37	5	115831945	115831945	+	Splice_Site	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:115831945A>G	ENST00000343348.6	-	5	1130		c.e5+1		SEMA6A_ENST00000510263.1_Splice_Site|SEMA6A_ENST00000503962.1_Splice_Site|SEMA6A_ENST00000257414.8_Splice_Site|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AAAATTGCCTACCTTATGTTT	0.423																																																	0													165.0	167.0	166.0					5																	115831945		1895	4127	6022	SO:0001630	splice_region_variant	0			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.342+1T>C	5.37:g.115831945A>G			Q9P2H9	Splice_Site	SNP	-	e4+2	ENST00000343348.6	37	c.342+2	CCDS47256.1	5	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315183	0.81358	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4675	0.84087	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA6A	115859844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	.	SEMA6A	-	-	ENSG00000092421		0.423	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	-	0.00	78	0	A	NM_020796	Intron	115831945	-1	tier1	-	no_errors	ENST00000257414	ensembl	human	known	74_37	splice_site	13.04	59	9	SNP	1.000	G
SEMA6C	10500	genome.wustl.edu	37	1	151106894	151106894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:151106894delG	ENST00000341697.3	-	18	3433	c.1742delC	c.(1741-1743)cctfs	p.P581fs	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	581					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGAATCCCCAGGGCCAGACTG	0.542																																																	0													78.0	58.0	64.0					1																	151106894		2203	4300	6503	SO:0001589	frameshift_variant	0			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1742delC	1.37:g.151106894delG	ENSP00000344148:p.Pro581fs		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Frame_Shift_Del	DEL	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.P581fs	ENST00000341697.3	37	c.1742	CCDS984.1	1																																																																																			SEMA6C	-	NULL	ENSG00000143434		0.542	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1		0.00	40	0	G	NM_030913		151106894	-1	tier1		no_errors	ENST00000368913	ensembl	human	known	74_37	frame_shift_del	20.51	31	8	DEL	0.334	-
SEPN1	57190	genome.wustl.edu	37	1	26136236	26136236	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:26136236A>G	ENST00000374315.1	+	6	871	c.833A>G	c.(832-834)cAg>cGg	p.Q278R	SEPN1_ENST00000361547.2_Missense_Mutation_p.Q312R|SEPN1_ENST00000354177.4_Missense_Mutation_p.Q278R	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	312						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCTGCTCAGTTCACCGGC	0.637																																																	0													110.0	127.0	121.0					1																	26136236		2137	4239	6376	SO:0001583	missense	0			AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.833A>G	1.37:g.26136236A>G	ENSP00000363434:p.Gln278Arg		A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.Q278R	ENST00000374315.1	37	c.833	CCDS41283.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.382140	0.82792	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.91068	-2.74;-2.78;-2.78	4.84	4.84	0.62591	.	0.054826	0.85682	D	0.000000	D	0.91338	0.7268	M	0.74258	2.255	0.58432	D	0.999999	P;P	0.48294	0.908;0.851	P;B	0.45753	0.492;0.297	D	0.92633	0.6118	10	0.87932	D	0	-28.0987	14.5789	0.68271	1.0:0.0:0.0:0.0	.	278;312	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	R	312;278;278	ENSP00000355141:Q312R;ENSP00000346109:Q278R;ENSP00000363434:Q278R	ENSP00000346109:Q278R	Q	+	2	0	SEPN1	26008823	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.107000	0.94261	2.044000	0.60594	0.379000	0.24179	CAG	SEPN1	-	NULL	ENSG00000162430		0.637	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SEPN1	HGNC	protein_coding	OTTHUMT00000019315.2	-	0.00	47	0	A	NM_020451		26136236	+1	tier1	-	no_errors	ENST00000354177	ensembl	human	known	74_37	missense	14.81	46	8	SNP	1.000	G
SERF2	10169	genome.wustl.edu	37	15	44086154	44086154	+	3'UTR	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:44086154G>A	ENST00000381359.1	+	0	1292				MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409960.2_Missense_Mutation_p.G166D|SERF2_ENST00000339624.5_Missense_Mutation_p.G129D|SERF2_ENST00000402131.1_3'UTR|SERF2_ENST00000403425.1_3'UTR|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000409614.1_3'UTR|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000249786.4_3'UTR|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2							cytosol (GO:0005829)|nucleus (GO:0005634)				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTCCCCCTGGGCCACTCCCGG	0.572																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.*183G>A	15.37:g.44086154G>A			A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Missense_Mutation	SNP	pfam_Uncharacterised_SERF	p.G166D	ENST00000381359.1	37	c.497	CCDS32218.1	15	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946063	0.53079	.	.	ENSG00000140264	ENST00000409960;ENST00000339624	T;T	0.61040	0.14;0.27	6.07	4.21	0.49690	.	.	.	.	.	T	0.35451	0.0932	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24476	-1.0159	9	0.87932	D	0	.	8.4096	0.32636	0.171:0.0:0.829:0.0	.	166	B9A026	.	D	166;129	ENSP00000387187:G166D;ENSP00000339647:G129D	ENSP00000339647:G129D	G	+	2	0	SERF2	41873446	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.124000	0.42006	1.583000	0.49898	-0.140000	0.14226	GGC	SERF2	-	NULL	ENSG00000140264		0.572	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERF2	HGNC	protein_coding	OTTHUMT00000133233.2		0.00	59	0	G	NM_005770		44086154	+1			no_errors	ENST00000409960	ensembl	human	putative	74_37	missense	9.30	39	4	SNP	1.000	A
SERPINA12	145264	genome.wustl.edu	37	14	94956095	94956095	+	Silent	SNP	G	G	A	rs536943554		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:94956095G>A	ENST00000341228.2	-	5	1710	c.915C>T	c.(913-915)gaC>gaT	p.D305D	SERPINA12_ENST00000556881.1_Silent_p.D305D	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	305					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTACAGACACGTCTACGACCC	0.502																																																	0													127.0	99.0	109.0					14																	94956095		2203	4300	6503	SO:0001819	synonymous_variant	0			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.915C>T	14.37:g.94956095G>A				Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D305	ENST00000341228.2	37	c.915	CCDS9926.1	14																																																																																			SERPINA12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000165953		0.502	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA12	HGNC	protein_coding	OTTHUMT00000413097.1	-	0.00	47	0	G	NM_173850		94956095	-1	tier1	-	no_errors	ENST00000341228	ensembl	human	known	74_37	silent	31.37	35	16	SNP	0.000	A
SERPINB9	5272	genome.wustl.edu	37	6	2892189	2892189	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:2892189C>T	ENST00000380698.4	-	6	690	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	201					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				AACGTGGCCTCCTGATACATC	0.572																																																	0													73.0	75.0	74.0					6																	2892189		2203	4300	6503	SO:0001583	missense	0			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.601G>A	6.37:g.2892189C>T	ENSP00000370074:p.Glu201Lys		B2RBW3|Q5TD03	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.E201K	ENST00000380698.4	37	c.601	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564894	0.13498	.	.	ENSG00000170542	ENST00000380698	D	0.84146	-1.81	4.07	3.21	0.36854	Serpin domain (3);	0.434052	0.27035	N	0.021248	T	0.45696	0.1355	N	0.16656	0.425	0.33378	D	0.574446	B	0.10296	0.003	B	0.16289	0.015	T	0.25950	-1.0117	10	0.02654	T	1	.	5.1826	0.15167	0.0:0.6783:0.0:0.3217	.	201	P50453	SPB9_HUMAN	K	201	ENSP00000370074:E201K	ENSP00000370074:E201K	E	-	1	0	SERPINB9	2837188	0.000000	0.05858	0.871000	0.34182	0.190000	0.23558	0.420000	0.21263	1.308000	0.44962	0.655000	0.94253	GAG	SERPINB9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	ENSG00000170542		0.572	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1		0.00	38	0	C			2892189	-1			no_errors	ENST00000380698	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.931	T
SERPINF1	5176	genome.wustl.edu	37	17	1674430	1674431	+	Frame_Shift_Ins	INS	-	-	C	rs148005190		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:1674430_1674431insC	ENST00000254722.4	+	4	554_555	c.391_392insC	c.(391-393)gccfs	p.A131fs	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	131					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CACGGTCACTGCCCCCCAGAAG	0.55																																																	0																																										SO:0001589	frameshift_variant	0			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.397dupC	17.37:g.1674436_1674436dupC	ENSP00000254722:p.Ala131fs		F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Frame_Shift_Ins	INS	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.Q133fs	ENST00000254722.4	37	c.391_392	CCDS11012.1	17																																																																																			SERPINF1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000132386		0.550	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF1	HGNC	protein_coding	OTTHUMT00000207109.4		0.00	52	0	-	NM_002615		1674431	+1	tier1		no_errors	ENST00000254722	ensembl	human	known	74_37	frame_shift_ins	25.93	40	14	INS	0.614:0.627	C
SERTAD3	29946	genome.wustl.edu	37	19	40946794	40946796	+	3'UTR	DEL	AAA	AAA	-	rs542682405|rs112924689	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:40946794_40946796delAAA	ENST00000322354.3	-	0	1688_1690				CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_3'UTR|SERTAD3_ENST00000601217.1_5'UTR	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3						negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAAACAATCCAAAAAAAAAAAAA	0.394																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.*603TTT>-	19.37:g.40946803_40946805delAAA			B3KQB3|Q96CQ2	RNA	DEL	-	NULL	ENST00000322354.3	37	NULL	CCDS12558.1	19																																																																																			SERTAD3	-	-	ENSG00000167565		0.394	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SERTAD3	HGNC	protein_coding	OTTHUMT00000462573.1		0.00	186	0	AAA	NM_013368		40946796	-1	tier1		no_errors	ENST00000601217	ensembl	human	known	74_37	rna	9.47	153	16	DEL	0.794:0.788:0.768	-
SETBP1	26040	genome.wustl.edu	37	18	42532404	42532404	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:42532404delT	ENST00000282030.5	+	4	3395	c.3099delT	c.(3097-3099)cctfs	p.P1033fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1033						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAAAGGTGCCTTTTTTACAAG	0.443									Schinzel-Giedion syndrome																																								0													83.0	71.0	75.0					18																	42532404		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3099delT	18.37:g.42532404delT	ENSP00000282030:p.Pro1033fs		A6H8W5|Q6P6C3|Q9UEF3	Frame_Shift_Del	DEL	smart_AT_hook_DNA-bd_motif	p.L1035fs	ENST00000282030.5	37	c.3099	CCDS11923.2	18																																																																																			SETBP1	-	NULL	ENSG00000152217		0.443	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4		0.00	69	0	T	NM_001130110		42532404	+1	tier1		no_errors	ENST00000282030	ensembl	human	known	74_37	frame_shift_del	23.21	43	13	DEL	1.000	-
SETD1A	9739	genome.wustl.edu	37	16	30975958	30975958	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:30975958C>T	ENST00000262519.8	+	7	1581	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	299	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTTCAAGCCCCGGCGGTCAGA	0.607																																																	0													80.0	82.0	81.0					16																	30975958		2197	4300	6497	SO:0001583	missense	0			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.895C>T	16.37:g.30975958C>T	ENSP00000262519:p.Arg299Trp		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.R299W	ENST00000262519.8	37	c.895	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401925	0.42613	.	.	ENSG00000099381	ENST00000262519	D	0.96334	-3.98	5.63	5.63	0.86233	.	0.297069	0.29293	N	0.012570	D	0.97108	0.9055	L	0.55990	1.75	0.35467	D	0.797017	D	0.89917	1.0	D	0.66979	0.948	D	0.99936	1.1363	10	0.87932	D	0	.	14.1195	0.65177	0.0:0.8493:0.1507:0.0	.	299	O15047	SET1A_HUMAN	W	299	ENSP00000262519:R299W	ENSP00000262519:R299W	R	+	1	2	SETD1A	30883459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.986000	0.49370	2.644000	0.89710	0.555000	0.69702	CGG	SETD1A	-	NULL	ENSG00000099381		0.607	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	-	0.00	53	0	C	NM_014712		30975958	+1	tier1	-	no_errors	ENST00000262519	ensembl	human	known	74_37	missense	34.62	34	18	SNP	1.000	T
SETD1B	23067	genome.wustl.edu	37	12	122242658	122242658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:122242658delC	ENST00000604567.1	+	2	83	c.15delC	c.(13-15)cacfs	p.H5fs	RHOF_ENST00000545544.1_5'Flank|RP11-347I19.8_ENST00000609067.1_lincRNA|SETD1B_ENST00000542440.1_Frame_Shift_Del_p.H5fs|SETD1B_ENST00000267197.5_Frame_Shift_Del_p.H5fs			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	5					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H8fs*27(2)		NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						AGAACAGTCACCCCCCCCACC	0.632																																																	2	Deletion - Frameshift(2)	large_intestine(2)											37.0	44.0	42.0					12																	122242658		692	1591	2283	SO:0001589	frameshift_variant	0			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.15delC	12.37:g.122242658delC	ENSP00000474253:p.His5fs		F6MFW1	Frame_Shift_Del	DEL	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.H8fs	ENST00000604567.1	37	c.15		12																																																																																			SETD1B	-	NULL	ENSG00000139718		0.632	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1		0.00	49	0	C	XM_037523		122242658	+1	tier1		no_errors	ENST00000267197	ensembl	human	known	74_37	frame_shift_del	48.65	19	18	DEL	1.000	-
SETD1B	23067	genome.wustl.edu	37	12	122252481	122252481	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:122252481C>T	ENST00000604567.1	+	7	2428	c.2360C>T	c.(2359-2361)aCg>aTg	p.T787M	SETD1B_ENST00000542440.1_Missense_Mutation_p.T787M|SETD1B_ENST00000267197.5_Missense_Mutation_p.T787M			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	787	Pro-rich.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						CGGCTGATGACGGGCCAGGGC	0.697																																																	0													6.0	8.0	8.0					12																	122252481		682	1575	2257	SO:0001583	missense	0			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.2360C>T	12.37:g.122252481C>T	ENSP00000474253:p.Thr787Met		F6MFW1	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.T787M	ENST00000604567.1	37	c.2360		12	.	.	.	.	.	.	.	.	.	.	C	9.393	1.076125	0.20227	.	.	ENSG00000139718	ENST00000542440;ENST00000267197	D;D	0.94092	-3.35;-3.35	4.32	3.32	0.38043	.	.	.	.	.	D	0.86522	0.5953	N	0.02539	-0.55	0.28697	N	0.904257	D	0.69078	0.997	P	0.52481	0.7	T	0.80677	-0.1276	9	0.51188	T	0.08	.	9.3727	0.38264	0.5189:0.4811:0.0:0.0	.	787	Q9UPS6	SET1B_HUMAN	M	787	ENSP00000442924:T787M;ENSP00000267197:T787M	ENSP00000267197:T787M	T	+	2	0	SETD1B	120736864	1.000000	0.71417	0.911000	0.35937	0.475000	0.33008	6.891000	0.75639	1.933000	0.56026	0.561000	0.74099	ACG	SETD1B	-	NULL	ENSG00000139718		0.697	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1		0.00	9	0	C	XM_037523		122252481	+1			no_errors	ENST00000267197	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.997	T
SETD6	79918	genome.wustl.edu	37	16	58550438	58550440	+	In_Frame_Del	DEL	AGA	AGA	-	rs370929550		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:58550438_58550440delAGA	ENST00000219315.4	+	4	583_585	c.533_535delAGA	c.(532-537)gagaag>gag	p.K179del	SETD6_ENST00000394266.4_Intron|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_In_Frame_Del_p.K155del			Q8TBK2	SETD6_HUMAN	SET domain containing 6	179	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GAGGCCGTGGAGAAGGATTTGGC	0.616																																																	0									,	2,4262		1,0,2131					,	4.4	1.0			107	1,8253		0,1,4126	no	coding,coding	SETD6	NM_024860.2,NM_001160305.1	,	1,1,6257	A1A1,A1R,RR		0.0121,0.0469,0.024	,	,		3,12515				SO:0001651	inframe_deletion	0			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.533_535delAGA	16.37:g.58550438_58550440delAGA	ENSP00000219315:p.Lys179del		A8K380|B5ME38|Q9H787	In_Frame_Del	DEL	pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase	p.K179in_frame_del	ENST00000219315.4	37	c.533_535	CCDS54013.1	16																																																																																			SETD6	-	pfam_SET_dom,pirsf_RuBisCo-cyt_methylase	ENSG00000103037		0.616	SETD6-003	KNOWN	basic|CCDS	protein_coding	SETD6	HGNC	protein_coding	OTTHUMT00000317274.2		0.00	61	0	AGA	NM_024860		58550440	+1	tier1		no_errors	ENST00000219315	ensembl	human	known	74_37	in_frame_del	21.95	32	9	DEL	1.000:0.998:1.000	-
SETDB1	9869	genome.wustl.edu	37	1	150936218	150936218	+	Splice_Site	SNP	G	G	A	rs111660370		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:150936218G>A	ENST00000271640.5	+	20	3859		c.e20+1		RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_3'UTR|RP11-316M1.12_ENST00000561111.1_RNA|SETDB1_ENST00000368969.4_Splice_Site|CERS2_ENST00000345896.4_5'Flank	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTACCTCAACGTGAGACCCCT	0.468																																																	0													71.0	62.0	65.0					1																	150936218		2203	4300	6503	SO:0001630	splice_region_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3669+1G>A	1.37:g.150936218G>A			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Splice_Site	SNP	-	e19+1	ENST00000271640.5	37	c.3669+1	CCDS44217.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.070487|4.070487	0.76301|0.76301	.|.	.|.	ENSG00000143379|ENSG00000143379	ENST00000271640;ENST00000368969|ENST00000498193	.|T	.|0.35789	.|1.29	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56292	.|0.1975	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.54330	.|-0.8310	.|7	.|.	.|.	.|.	.|.	19.7359|19.7359	0.96202|0.96202	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1224	.|E9PRF4	.|.	.|M	-1|1224	.|ENSP00000432348:V1224M	.|.	.|V	+|+	.|1	.|0	SETDB1|SETDB1	149202842|149202842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.706000|0.706000	0.40770|0.40770	9.806000|9.806000	0.99153|0.99153	2.672000|2.672000	0.90937|0.90937	0.462000|0.462000	0.41574|0.41574	.|GTG	SETDB1	-	-	ENSG00000143379		0.468	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0.00	44	0	G		Intron	150936218	+1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	splice_site	20.00	36	9	SNP	1.000	A
SEZ6L2	26470	genome.wustl.edu	37	16	29906705	29906706	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:29906705_29906706insG	ENST00000308713.5	-	5	1254_1255	c.727_728insC	c.(727-729)cgafs	p.R243fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.R199fs|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.R173fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	243	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCCAGGAGTCGGGGGGCCAGG	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.728dupC	16.37:g.29906711_29906711dupG	ENSP00000312550:p.Arg243fs		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Frame_Shift_Ins	INS	pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R243fs	ENST00000308713.5	37	c.728_727	CCDS10659.1	16																																																																																			SEZ6L2	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000174938		0.639	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2		0.00	166	0	-	NM_012410		29906706	-1	tier1		no_errors	ENST00000308713	ensembl	human	known	74_37	frame_shift_ins	17.57	122	26	INS	1.000:1.000	G
SF3B2	10992	genome.wustl.edu	37	11	65827281	65827281	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:65827281T>C	ENST00000322535.6	+	13	1479	c.1430T>C	c.(1429-1431)aTg>aCg	p.M477T	SF3B2_ENST00000528302.1_Missense_Mutation_p.M460T	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	477					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GTCGTGGAGATGCACGATGTG	0.542																																																	0													95.0	78.0	84.0					11																	65827281		2201	4295	6496	SO:0001583	missense	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1430T>C	11.37:g.65827281T>C	ENSP00000318861:p.Met477Thr		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom	p.M477T	ENST00000322535.6	37	c.1430	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418405	0.83559	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.96	5.96	0.96718	Domain of unknown function DUF382 (1);	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.72894	2.215	0.80722	D	1	D	0.63046	0.992	D	0.67103	0.949	T	0.78344	-0.2240	9	0.54805	T	0.06	-36.7628	14.3967	0.67015	0.0:0.0:0.0:1.0	.	477	Q13435	SF3B2_HUMAN	T	460;477;381	.	ENSP00000318861:M477T	M	+	2	0	SF3B2	65583857	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.562000	0.82300	2.284000	0.76573	0.528000	0.53228	ATG	SF3B2	-	pfam_DUF382	ENSG00000087365		0.542	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	-	0.00	34	0	T			65827281	+1	tier1	-	no_errors	ENST00000322535	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	C
SFI1	9814	genome.wustl.edu	37	22	32014440	32014440	+	3'UTR	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:32014440delG	ENST00000400288.2	+	0	3870				SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000540643.1_3'UTR|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000432498.1_3'UTR|SFI1_ENST00000400289.1_3'UTR|PISD_ENST00000478893.1_5'Flank|SFI1_ENST00000443326.1_3'UTR	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGGGCTGTCGGGGAGGCCTC	0.537																																																	0													5.0	6.0	6.0					22																	32014440		1845	4034	5879	SO:0001624	3_prime_UTR_variant	0			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.*36G>-	22.37:g.32014440delG			A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	RNA	DEL	-	NULL	ENST00000400288.2	37	NULL	CCDS43004.1	22																																																																																			SFI1	-	-	ENSG00000198089		0.537	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3		0.00	52	0	G	NM_014775		32014440	+1	tier1		no_errors	ENST00000474741	ensembl	human	known	74_37	rna	18.18	27	6	DEL	0.000	-
SFTPA2	729238	genome.wustl.edu	37	10	81317336	81317336	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:81317336T>C	ENST00000372325.2	-	6	460	c.376A>G	c.(376-378)Agt>Ggt	p.S126G	SFTPA2_ENST00000372327.5_Missense_Mutation_p.S126G	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	126					respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCCTGCAGACTGAGGGCTGAG	0.552									Pulmonary Fibrosis, Idiopathic																																								0													65.0	79.0	74.0					10																	81317336		2151	4273	6424	SO:0001583	missense	0	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.376A>G	10.37:g.81317336T>C	ENSP00000361400:p.Ser126Gly		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S126G	ENST00000372325.2	37	c.376	CCDS41540.1	10	.	.	.	.	.	.	.	.	.	.	N	8.756	0.922490	0.17982	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327;ENST00000417041	D;D;D	0.87887	-1.83;-1.83;-2.31	2.98	-1.83	0.07833	.	0.901185	0.09775	N	0.757521	T	0.80944	0.4721	M	0.81682	2.555	0.09310	N	1	P	0.45569	0.861	B	0.27887	0.084	T	0.69308	-0.5179	10	0.54805	T	0.06	-4.4461	5.8055	0.18438	0.0:0.12:0.5456:0.3344	.	126	E3VLC8	.	G	126;92;126;126	ENSP00000361400:S126G;ENSP00000361402:S126G;ENSP00000397375:S126G	ENSP00000361400:S126G	S	-	1	0	SFTPA2	80987342	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-2.136000	0.01305	-0.704000	0.05042	-0.581000	0.04135	AGT	SFTPA2	-	smart_C-type_lectin	ENSG00000185303		0.552	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SFTPA2	HGNC	protein_coding	OTTHUMT00000048961.1	-	0.00	43	0	T	NM_001098668		81317336	-1	tier1	-	no_errors	ENST00000372325	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.013	C
SGSM2	9905	genome.wustl.edu	37	17	2268625	2268625	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:2268625G>A	ENST00000426855.2	+	11	1453	c.1278G>A	c.(1276-1278)agG>agA	p.R426R	SGSM2_ENST00000268989.3_Silent_p.R426R|SGSM2_ENST00000574563.1_Silent_p.R426R	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	426					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCGGCCACAGGCACGAGCACA	0.652																																																	0													38.0	31.0	33.0					17																	2268625		2193	4292	6485	SO:0001819	synonymous_variant	0			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1278G>A	17.37:g.2268625G>A			A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.R426	ENST00000426855.2	37	c.1278	CCDS45570.1	17																																																																																			SGSM2	-	NULL	ENSG00000141258		0.652	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	-	0.00	66	0	G	NM_014853		2268625	+1	tier1	-	no_errors	ENST00000268989	ensembl	human	known	74_37	silent	8.93	51	5	SNP	1.000	A
SH3BGR	6450	genome.wustl.edu	37	21	40871812	40871812	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:40871812G>T	ENST00000333634.4	+	4	643	c.565G>T	c.(565-567)Ggc>Tgc	p.G189C	SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380637.3_Missense_Mutation_p.G78C|SH3BGR_ENST00000380634.1_Missense_Mutation_p.G78C|SH3BGR_ENST00000380631.1_Missense_Mutation_p.G78C	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	189	Glu-rich (acidic).				positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TGAAGATGTGGGCAACCTCCC	0.468																																																	0													125.0	115.0	118.0					21																	40871812		2203	4300	6503	SO:0001583	missense	0				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.565G>T	21.37:g.40871812G>T	ENSP00000332513:p.Gly189Cys		A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	p.G189C	ENST00000333634.4	37	c.565	CCDS13666.1	21	.	.	.	.	.	.	.	.	.	.	.	1.036	-0.680447	0.03353	.	.	ENSG00000185437	ENST00000380637;ENST00000380634;ENST00000440288;ENST00000380631;ENST00000333634;ENST00000423596;ENST00000447939	T;T;T;T;T;T;T	0.77620	0.87;0.87;0.83;0.87;1.83;-0.55;-1.11	4.96	3.14	0.36123	.	0.553031	0.20565	N	0.089825	T	0.75961	0.3921	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.63957	0.92	T	0.65335	-0.6193	10	0.72032	D	0.01	.	7.89	0.29672	0.195:0.0:0.805:0.0	.	189	P55822	SH3BG_HUMAN	C	78;78;78;78;189;31;22	ENSP00000370011:G78C;ENSP00000370008:G78C;ENSP00000401572:G78C;ENSP00000370005:G78C;ENSP00000332513:G189C;ENSP00000413981:G31C;ENSP00000403115:G22C	ENSP00000332513:G189C	G	+	1	0	SH3BGR	39793682	0.036000	0.19791	0.023000	0.16930	0.037000	0.13140	1.661000	0.37408	0.767000	0.33267	0.549000	0.68633	GGC	SH3BGR	-	NULL	ENSG00000185437		0.468	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGR	HGNC	protein_coding	OTTHUMT00000157377.6	-	0.00	90	0	G	NM_007341		40871812	+1	tier1	-	no_errors	ENST00000333634	ensembl	human	known	74_37	missense	14.29	65	11	SNP	0.051	T
SH3BP4	23677	genome.wustl.edu	37	2	235950921	235950921	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:235950921C>T	ENST00000409212.1	+	4	2015	c.1508C>T	c.(1507-1509)aCg>aTg	p.T503M	SH3BP4_ENST00000392011.2_Missense_Mutation_p.T503M|SH3BP4_ENST00000344528.4_Missense_Mutation_p.T503M			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	503					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCCCCAAAGACGCTCCTGGTC	0.572																																																	0													75.0	77.0	76.0					2																	235950921		2203	4300	6503	SO:0001583	missense	0			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1508C>T	2.37:g.235950921C>T	ENSP00000386862:p.Thr503Met		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.T503M	ENST00000409212.1	37	c.1508	CCDS2513.1	2	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722959	0.48728	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.11063	2.81;2.81;2.81	5.18	4.3	0.51218	.	0.048840	0.85682	N	0.000000	T	0.27241	0.0668	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66084	0.941;0.941	T	0.01096	-1.1453	10	0.62326	D	0.03	-7.0391	12.3899	0.55352	0.0:0.9181:0.0:0.0819	.	503;503	A8K594;Q9P0V3	.;SH3B4_HUMAN	M	503	ENSP00000375867:T503M;ENSP00000386862:T503M;ENSP00000340237:T503M	ENSP00000340237:T503M	T	+	2	0	SH3BP4	235615660	1.000000	0.71417	0.821000	0.32701	0.562000	0.35680	4.699000	0.61796	1.186000	0.42985	0.655000	0.94253	ACG	SH3BP4	-	NULL	ENSG00000130147		0.572	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	HGNC	protein_coding	OTTHUMT00000329763.1	-	0.00	24	0	C			235950921	+1	tier1	-	no_errors	ENST00000344528	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.998	T
SH3BP5L	80851	genome.wustl.edu	37	1	249106200	249106200	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:249106200C>T	ENST00000366472.5	-	7	2310	c.1081G>A	c.(1081-1083)Gtc>Atc	p.V361I	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.V329I	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	361										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCCAGACTGACGTGGTCCGAG	0.692																																																	0													13.0	16.0	15.0					1																	249106200		2200	4294	6494	SO:0001583	missense	0			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.1081G>A	1.37:g.249106200C>T	ENSP00000355428:p.Val361Ile		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	pfam_SH3-bd_5	p.V361I	ENST00000366472.5	37	c.1081	CCDS31126.1	1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827795	0.32329	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	.	.	.	4.27	-1.69	0.08186	.	0.391294	0.27917	N	0.017339	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18013	0.025;0.007;0.007;0.007	B;B;B;B	0.12156	0.007;0.004;0.003;0.004	T	0.12682	-1.0538	9	0.46703	T	0.11	-4.5242	9.2539	0.37571	0.0:0.3908:0.0:0.6092	.	329;254;361;219	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	I	361;329	.	ENSP00000355428:V361I	V	-	1	0	SH3BP5L	247072823	0.010000	0.17322	0.151000	0.22473	0.717000	0.41224	-0.094000	0.11094	-0.438000	0.07232	0.313000	0.20887	GTC	SH3BP5L	-	NULL	ENSG00000175137		0.692	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5L	HGNC	protein_coding	OTTHUMT00000097140.1		0.00	20	0	C	NM_030645		249106200	-1			no_errors	ENST00000366472	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.166	T
SH3GL1	6455	genome.wustl.edu	37	19	4361753	4361753	+	Silent	SNP	G	G	A	rs576935472		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4361753G>A	ENST00000269886.3	-	10	1129	c.951C>T	c.(949-951)ttC>ttT	p.F317F	SH3GL1_ENST00000417295.2_Silent_p.F269F|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Silent_p.F253F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	317	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCTCGGGCTCGAAGTCGTACA	0.687			T	MLL	AL								G|||	1	0.000199681	0.0008	0.0	5008	,	,		12436	0.0		0.0	False		,,,				2504	0.0				NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													74.0	59.0	64.0					19																	4361753		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.951C>T	19.37:g.4361753G>A			B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.F317	ENST00000269886.3	37	c.951	CCDS32874.1	19																																																																																			SH3GL1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	ENSG00000141985		0.687	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1		0.00	67	0	G	NM_003025		4361753	-1			no_errors	ENST00000269886	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.995	A
SH3KBP1	30011	genome.wustl.edu	37	X	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:19560215delG	ENST00000397821.3	-	16	2010	c.1720delC	c.(1720-1722)ctgfs	p.L574fs	SH3KBP1_ENST00000379698.4_Frame_Shift_Del_p.L537fs|SH3KBP1_ENST00000379716.1_Frame_Shift_Del_p.L336fs|SH3KBP1_ENST00000541422.1_Frame_Shift_Del_p.L313fs	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	574					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAGGATGACAGGGGGGAGGGC	0.647																																																	0													51.0	50.0	50.0					X																	19560215		2203	4300	6503	SO:0001589	frameshift_variant	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1720delC	X.37:g.19560215delG	ENSP00000380921:p.Leu574fs		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Frame_Shift_Del	DEL	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.L574fs	ENST00000397821.3	37	c.1720	CCDS14193.1	X																																																																																			SH3KBP1	-	NULL	ENSG00000147010		0.647	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1		0.00	84	0	G	NM_031892		19560215	-1	tier1		no_errors	ENST00000397821	ensembl	human	known	74_37	frame_shift_del	11.29	55	7	DEL	0.002	-
SH3PXD2A	9644	genome.wustl.edu	37	10	105362131	105362131	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:105362131delG	ENST00000369774.4	-	15	3120	c.2844delC	c.(2842-2844)cccfs	p.P948fs	SH3PXD2A_ENST00000538130.1_Frame_Shift_Del_p.P783fs|SH3PXD2A_ENST00000540321.1_Frame_Shift_Del_p.P815fs|SH3PXD2A_ENST00000355946.2_Frame_Shift_Del_p.P920fs|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	948					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGGAGGGGATGGGGGGCGTGG	0.637																																																	0													83.0	77.0	79.0					10																	105362131		2203	4300	6503	SO:0001589	frameshift_variant	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2844delC	10.37:g.105362131delG	ENSP00000358789:p.Pro948fs		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.I949fs	ENST00000369774.4	37	c.2844		10																																																																																			SH3PXD2A	-	NULL	ENSG00000107957		0.637	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1		0.00	9	0	G	NM_014631		105362131	-1			no_errors	ENST00000369774	ensembl	human	known	74_37	frame_shift_del	33.33	10	5	DEL	1.000	0
SH3TC2	79628	genome.wustl.edu	37	5	148427444	148427444	+	Missense_Mutation	SNP	T	T	C	rs200560355		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:148427444T>C	ENST00000515425.1	-	3	361	c.260A>G	c.(259-261)gAg>gGg	p.E87G	SH3TC2_ENST00000512049.1_Missense_Mutation_p.E87G|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	87					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGCGCACCTCCTGGTCCTC	0.532																																																	0													115.0	107.0	110.0					5																	148427444		2203	4300	6503	SO:0001583	missense	0			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.260A>G	5.37:g.148427444T>C	ENSP00000423660:p.Glu87Gly		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.E87G	ENST00000515425.1	37	c.260	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089731	0.36855	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	T;T	0.80393	-1.36;-1.37	5.38	2.95	0.34219	.	0.219539	0.38605	N	0.001632	T	0.72653	0.3487	L	0.53249	1.67	0.80722	D	1	B;B;B	0.14438	0.005;0.01;0.005	B;B;B	0.14023	0.004;0.01;0.004	T	0.66575	-0.5889	10	0.87932	D	0	.	5.4398	0.16501	0.1534:0.0828:0.0:0.7638	.	87;87;87	Q14CC0;D6RFX2;Q8TF17	.;.;S3TC2_HUMAN	G	87	ENSP00000423660:E87G;ENSP00000421860:E87G	ENSP00000313025:E87G	E	-	2	0	SH3TC2	148407637	1.000000	0.71417	0.960000	0.40013	0.650000	0.38633	1.506000	0.35747	0.424000	0.26061	0.533000	0.62120	GAG	SH3TC2	-	NULL	ENSG00000169247		0.532	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	-	0.00	43	0	T	NM_024577		148427444	-1	tier1	-	no_errors	ENST00000515425	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.996	C
SHC1	6464	genome.wustl.edu	37	1	154935863	154935863	+	3'UTR	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:154935863delG	ENST00000368445.5	-	0	2382				PYGO2_ENST00000483463.1_Intron|SHC1_ENST00000448116.2_3'UTR|SHC1_ENST00000606391.1_3'UTR|PYGO2_ENST00000368456.1_5'Flank|SHC1_ENST00000368450.1_3'UTR|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000368457.2_5'Flank|SHC1_ENST00000368449.4_3'UTR|SHC1_ENST00000368453.4_3'UTR|SHC1_ENST00000490667.1_5'UTR	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1						actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTTTAAACATGGGGGGGGCGG	0.507																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)												0																																										SO:0001624	3_prime_UTR_variant	0			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.*416C>-	1.37:g.154935863delG			B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	RNA	DEL	-	NULL	ENST00000368445.5	37	NULL	CCDS30881.1	1																																																																																			SHC1	-	-	ENSG00000160691		0.507	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHC1	HGNC	protein_coding	OTTHUMT00000090781.2		0.00	107	0	G	NM_183001		154935863	-1	tier1		no_errors	ENST00000490667	ensembl	human	known	74_37	rna	35.19	70	38	DEL	0.000	-
SHCBP1L	81626	genome.wustl.edu	37	1	182909500	182909500	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:182909500T>A	ENST00000367547.3	-	3	970	c.734A>T	c.(733-735)gAt>gTt	p.D245V	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.D126V	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	317										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AACATGTATATCAGTATCTTG	0.353																																																	0													117.0	113.0	114.0					1																	182909500		2203	4300	6503	SO:0001583	missense	0			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.734A>T	1.37:g.182909500T>A	ENSP00000356518:p.Asp245Val		Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.D245V	ENST00000367547.3	37	c.734	CCDS30955.1	1	.	.	.	.	.	.	.	.	.	.	T	5.256	0.232720	0.09969	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.49720	0.77;0.79	4.67	2.19	0.27852	.	0.234460	0.29624	N	0.011638	T	0.36026	0.0952	L	0.49350	1.555	0.20074	N	0.999931	B;B	0.16396	0.006;0.017	B;B	0.21151	0.007;0.033	T	0.22626	-1.0211	10	0.26408	T	0.33	-4.9235	5.6174	0.17438	0.1653:0.0:0.3422:0.4925	.	126;245	Q9BZQ2-2;Q9BZQ2-3	.;.	V	245;314;126	ENSP00000356518:D245V;ENSP00000397308:D126V	ENSP00000287709:D314V	D	-	2	0	SHCBP1L	181176123	0.175000	0.23083	0.001000	0.08648	0.484000	0.33280	0.825000	0.27393	0.129000	0.18514	0.533000	0.62120	GAT	SHCBP1L	-	NULL	ENSG00000157060		0.353	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	HGNC	protein_coding	OTTHUMT00000085956.1	-	0.00	60	0	T	NM_030933		182909500	-1	tier1	-	no_errors	ENST00000367547	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.003	A
SHPK	23729	genome.wustl.edu	37	17	3513905	3513905	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:3513905G>A	ENST00000225519.3	-	7	1488	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	462					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GAGCTGCCCCGACAGCTGCAT	0.542																																																	0													145.0	137.0	140.0					17																	3513905		2203	4300	6503	SO:0001819	synonymous_variant	0			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1386C>T	17.37:g.3513905G>A			B2R640|Q8WUH3	Silent	SNP	pfam_Carb_kinase_FGGY_N	p.V462	ENST00000225519.3	37	c.1386	CCDS11030.1	17																																																																																			SHPK	-	NULL	ENSG00000197417		0.542	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHPK	HGNC	protein_coding	OTTHUMT00000207378.2	-	0.00	16	0	G			3513905	-1	tier1	-	no_errors	ENST00000225519	ensembl	human	known	74_37	silent	53.85	6	7	SNP	0.027	A
SIDT1	54847	genome.wustl.edu	37	3	113322843	113322843	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:113322843C>T	ENST00000264852.4	+	13	2026	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.R434W	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	434					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CAGGAAGGACCGGAGAATTGT	0.363																																																	0													87.0	79.0	82.0					3																	113322843		2203	4300	6503	SO:0001583	missense	0			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1300C>T	3.37:g.113322843C>T	ENSP00000264852:p.Arg434Trp		Q17RR4	Missense_Mutation	SNP	NULL	p.R434W	ENST00000264852.4	37	c.1300	CCDS2974.1	3	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064150	0.76187	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.24151	1.87;1.87	6.17	4.33	0.51752	.	0.000000	0.56097	D	0.000026	T	0.44244	0.1284	L	0.53249	1.67	0.47183	D	0.999344	D;D	0.71674	0.998;0.996	D;D	0.65987	0.94;0.935	T	0.35351	-0.9792	10	0.62326	D	0.03	-17.2654	14.1922	0.65646	0.3889:0.6111:0.0:0.0	.	434;434	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	W	434	ENSP00000264852:R434W;ENSP00000377416:R434W	ENSP00000264852:R434W	R	+	1	2	SIDT1	114805533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.515000	0.45512	0.871000	0.35750	0.655000	0.94253	CGG	SIDT1	-	NULL	ENSG00000072858		0.363	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	HGNC	protein_coding	OTTHUMT00000317564.1	-	0.00	69	0	C	NM_017699		113322843	+1	tier1	-	no_errors	ENST00000393830	ensembl	human	known	74_37	missense	22.03	46	13	SNP	1.000	T
SIK1	150094	genome.wustl.edu	37	21	44837638	44837638	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:44837638C>T	ENST00000270162.6	-	13	1893	c.1761G>A	c.(1759-1761)cgG>cgA	p.R587R		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	587	RK-rich region. {ECO:0000250}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	TCAGCTGCTGCCGAAAGGCCT	0.632																																																	0													29.0	21.0	24.0					21																	44837638		2192	4290	6482	SO:0001819	synonymous_variant	0			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1761G>A	21.37:g.44837638C>T			A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R587	ENST00000270162.6	37	c.1761	CCDS33575.1	21																																																																																			SIK1	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000142178		0.632	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1	-	0.00	59	0	C	NM_173354		44837638	-1	tier1	-	no_errors	ENST00000270162	ensembl	human	known	74_37	silent	8.11	68	6	SNP	0.975	T
SIPA1L2	57568	genome.wustl.edu	37	1	232607232	232607232	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:232607232C>T	ENST00000366630.1	-	7	2486	c.2128G>A	c.(2128-2130)Gtc>Atc	p.V710I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V710I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	710	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCCTGGAAGACGATGGTGACG	0.398																																																	0													137.0	142.0	141.0					1																	232607232		2126	4274	6400	SO:0001583	missense	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2128G>A	1.37:g.232607232C>T	ENSP00000355589:p.Val710Ile		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.V710I	ENST00000366630.1	37	c.2128	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810396	0.32053	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.93488	-3.23;-3.23	5.99	5.07	0.68467	Rap/ran-GAP (2);	0.063724	0.64402	N	0.000007	D	0.85852	0.5793	N	0.13043	0.29	0.43003	D	0.994524	B	0.14438	0.01	B	0.20577	0.03	T	0.80480	-0.1364	10	0.21014	T	0.42	-33.1823	11.6445	0.51253	0.0:0.8627:0.0:0.1373	.	710	Q9P2F8	SI1L2_HUMAN	I	710	ENSP00000355589:V710I;ENSP00000262861:V710I	ENSP00000262861:V710I	V	-	1	0	SIPA1L2	230673855	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.578000	0.46051	1.518000	0.48934	0.655000	0.94253	GTC	SIPA1L2	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000116991		0.398	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0.00	67	0	C	XM_045839		232607232	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	33.33	42	21	SNP	1.000	T
SIPA1L3	23094	genome.wustl.edu	37	19	38573645	38573645	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:38573645G>T	ENST00000222345.6	+	3	1949	c.1440G>T	c.(1438-1440)aaG>aaT	p.K480N		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	480					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGTTCCCAAGGAGCAGCAGC	0.667																																																	0													29.0	34.0	32.0					19																	38573645		2203	4300	6503	SO:0001583	missense	0			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1440G>T	19.37:g.38573645G>T	ENSP00000222345:p.Lys480Asn		Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.K480N	ENST00000222345.6	37	c.1440	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552962	0.45487	.	.	ENSG00000105738	ENST00000222345	T	0.76968	-1.06	5.15	4.12	0.48240	.	0.521465	0.20367	N	0.093721	T	0.71702	0.3371	L	0.50333	1.59	0.41648	D	0.989115	B	0.27910	0.193	B	0.24269	0.052	T	0.70733	-0.4791	10	0.54805	T	0.06	-36.3841	12.6268	0.56634	0.082:0.0:0.918:0.0	.	480	O60292	SI1L3_HUMAN	N	480	ENSP00000222345:K480N	ENSP00000222345:K480N	K	+	3	2	SIPA1L3	43265485	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	2.466000	0.45084	1.186000	0.42985	0.563000	0.77884	AAG	SIPA1L3	-	NULL	ENSG00000105738		0.667	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	-	0.00	71	0	G	XM_032278		38573645	+1	tier1	-	no_errors	ENST00000222345	ensembl	human	known	74_37	missense	17.39	38	8	SNP	1.000	T
SLC15A1	6564	genome.wustl.edu	37	13	99362008	99362008	+	Silent	SNP	G	G	T	rs141847035		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:99362008G>T	ENST00000376503.5	-	13	1021	c.966C>A	c.(964-966)ccC>ccA	p.P322P		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	322					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCATCTGATCGGGCTGAATTT	0.423																																																	0													109.0	103.0	105.0					13																	99362008		2203	4300	6503	SO:0001819	synonymous_variant	0			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.966C>A	13.37:g.99362008G>T			Q5VW82	Silent	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.P322	ENST00000376503.5	37	c.966	CCDS9489.1	13																																																																																			SLC15A1	-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	ENSG00000088386		0.423	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	HGNC	protein_coding	OTTHUMT00000045560.3	-	0.00	58	0	G	NM_005073		99362008	-1	tier1	-	no_errors	ENST00000376503	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.046	T
SLC16A14	151473	genome.wustl.edu	37	2	230902154	230902154	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:230902154G>A	ENST00000295190.4	-	5	1933	c.1475C>T	c.(1474-1476)cCg>cTg	p.P492L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	492						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCGAATGCACGGCTGAATAAG	0.343																																																	0													129.0	123.0	125.0					2																	230902154		2203	4300	6503	SO:0001583	missense	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1475C>T	2.37:g.230902154G>A	ENSP00000295190:p.Pro492Leu		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P492L	ENST00000295190.4	37	c.1475	CCDS2473.1	2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709540	0.48517	.	.	ENSG00000163053	ENST00000295190	T	0.79940	-1.32	5.4	4.45	0.53987	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.106588	0.41823	N	0.000820	T	0.81828	0.4905	M	0.90369	3.11	0.58432	D	0.999999	B	0.17268	0.021	B	0.10450	0.005	T	0.77259	-0.2654	10	0.15066	T	0.55	.	12.7429	0.57264	0.0869:0.0:0.9131:0.0	.	492	Q7RTX9	MOT14_HUMAN	L	492	ENSP00000295190:P492L	ENSP00000295190:P492L	P	-	2	0	SLC16A14	230610398	1.000000	0.71417	0.129000	0.21949	0.860000	0.49131	5.450000	0.66626	1.366000	0.46076	0.655000	0.94253	CCG	SLC16A14	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.343	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	-	0.00	51	0	G	NM_152527		230902154	-1	tier1	-	no_errors	ENST00000295190	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.863	A
SLC18A3	6572	genome.wustl.edu	37	10	50819743	50819743	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:50819743G>A	ENST00000374115.3	+	1	1397	c.957G>A	c.(955-957)acG>acA	p.T319T	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000455728.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	319					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGAAGCATACGATGGCGGCTT	0.652																																																	0													76.0	74.0	74.0					10																	50819743		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.957G>A	10.37:g.50819743G>A			B2R7S1	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T319	ENST00000374115.3	37	c.957	CCDS7231.1	10																																																																																			SLC18A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000187714		0.652	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	-	0.00	19	0	G	NM_003055		50819743	+1	tier1	-	no_errors	ENST00000374115	ensembl	human	known	74_37	silent	21.43	22	6	SNP	1.000	A
SLC19A1	6573	genome.wustl.edu	37	21	46952005	46952005	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:46952005delC	ENST00000311124.4	-	3	399	c.247delG	c.(247-249)gtgfs	p.V83fs	SLC19A1_ENST00000567670.1_Frame_Shift_Del_p.V83fs|SLC19A1_ENST00000380010.4_Frame_Shift_Del_p.V83fs|SLC19A1_ENST00000485649.2_Frame_Shift_Del_p.V43fs	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	83					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	AGCAGGAACACGGGCACCAGC	0.667																																																	0													70.0	60.0	64.0					21																	46952005		2203	4300	6503	SO:0001589	frameshift_variant	0			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.247delG	21.37:g.46952005delC	ENSP00000308895:p.Val83fs		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Frame_Shift_Del	DEL	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.V83fs	ENST00000311124.4	37	c.247	CCDS13725.1	21																																																																																			SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000173638		0.667	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1		0.00	35	0	C			46952005	-1	tier1		no_errors	ENST00000311124	ensembl	human	known	74_37	frame_shift_del	19.44	29	7	DEL	0.014	-
SLC1A6	6511	genome.wustl.edu	37	19	15067364	15067364	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15067364C>T	ENST00000221742.3	-	6	1100	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Missense_Mutation_p.V301I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	365					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CGGTGAGTGACGAGGAAGTAG	0.617																																																	0													172.0	134.0	147.0					19																	15067364		2203	4300	6503	SO:0001583	missense	0				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1093G>A	19.37:g.15067364C>T	ENSP00000221742:p.Val365Ile		Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V365I	ENST00000221742.3	37	c.1093	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	c	2.021	-0.424764	0.04734	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.58652	0.32;0.32	3.96	-1.06	0.10002	.	0.403999	0.26658	N	0.023178	T	0.29817	0.0745	N	0.05330	-0.07	0.80722	D	1	B;B	0.27853	0.191;0.007	B;B	0.31614	0.133;0.004	T	0.20140	-1.0284	10	0.06236	T	0.91	-11.0254	11.0045	0.47626	0.0:0.7689:0.0:0.2311	.	301;365	E7EV13;P48664	.;EAA4_HUMAN	I	301;365	ENSP00000409386:V301I;ENSP00000221742:V365I	ENSP00000221742:V365I	V	-	1	0	SLC1A6	14928364	0.003000	0.15002	0.925000	0.36789	0.931000	0.56810	0.028000	0.13644	-0.385000	0.07833	-1.397000	0.01146	GTC	SLC1A6	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	ENSG00000105143		0.617	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	-	0.00	70	0	C	NM_005071		15067364	-1	tier1	-	no_errors	ENST00000221742	ensembl	human	known	74_37	missense	33.33	40	20	SNP	0.984	T
SLC25A14	9016	genome.wustl.edu	37	X	129492768	129492768	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:129492768delT	ENST00000218197.5	+	6	821				SLC25A14_ENST00000361980.5_Intron|SLC25A14_ENST00000545805.1_Intron|SLC25A14_ENST00000339231.3_Intron|SLC25A14_ENST00000467496.1_Intron|SLC25A14_ENST00000543953.1_Intron	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14						aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TTGCAGAGAATTTTTTTTTAT	0.368																																																	0																																										SO:0001627	intron_variant	0			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.594+59T>-	X.37:g.129492768delT			D3DTG2|Q0VDH7|Q9HC60|Q9HC61	RNA	DEL	-	NULL	ENST00000218197.5	37	NULL	CCDS14623.1	X																																																																																			SLC25A14	-	-	ENSG00000102078		0.368	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A14	HGNC	protein_coding	OTTHUMT00000058253.1		0.00	33	0	T	NM_022810, NM_003951		129492768	+1	tier1		no_errors	ENST00000464184	ensembl	human	known	74_37	rna	17.39	19	4	DEL	0.000	-
SLC25A16	8034	genome.wustl.edu	37	10	70246947	70246947	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:70246947G>A	ENST00000609923.1	-	8	894	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Missense_Mutation_p.R168W	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	266					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TGCATTCGCCGACGAGTCACA	0.328																																																	0													127.0	127.0	127.0					10																	70246947		2203	4300	6503	SO:0001583	missense	0			M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.796C>T	10.37:g.70246947G>A	ENSP00000476815:p.Arg266Trp		Q8N2U1	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier	p.R266W	ENST00000609923.1	37	c.796	CCDS7280.1	10	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352461	0.41700	.	.	ENSG00000122912	ENST00000265870;ENST00000539557	T;T	0.79352	-1.26;-1.26	5.14	2.19	0.27852	Mitochondrial carrier domain (2);	0.167682	0.51477	D	0.000097	D	0.90793	0.7109	H	0.98333	4.205	0.52501	D	0.99995	D	0.89917	1.0	D	0.97110	1.0	D	0.88611	0.3156	10	0.87932	D	0	-7.7348	6.4923	0.22123	0.1492:0.0:0.5505:0.3003	.	266	P16260	GDC_HUMAN	W	266;168	ENSP00000265870:R266W;ENSP00000443914:R168W	ENSP00000265870:R266W	R	-	1	2	SLC25A16	69916953	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	3.534000	0.53568	0.552000	0.29026	-0.147000	0.13772	CGG	SLC25A16	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000122912		0.328	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A16	HGNC	protein_coding	OTTHUMT00000048347.2	-	0.00	55	0	G			70246947	-1	tier1	-	no_errors	ENST00000609923	ensembl	human	known	74_37	missense	28.00	34	14	SNP	0.999	A
SLC25A25	114789	genome.wustl.edu	37	9	130854349	130854349	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:130854349C>A	ENST00000373066.5	+	1	607	c.200C>A	c.(199-201)cCt>cAt	p.P67H	SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000432073.2_Missense_Mutation_p.P67H|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000373069.5_Intron	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	114	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GTGGTTGGACCTGCAGAGCAG	0.542																																																	0													82.0	84.0	83.0					9																	130854349		1901	4129	6030	SO:0001583	missense	0			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373066.5:c.200C>A	9.37:g.130854349C>A	ENSP00000362157:p.Pro67His		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.P67H	ENST00000373066.5	37	c.200	CCDS59146.1	9	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987086	0.74589	.	.	ENSG00000148339	ENST00000432073;ENST00000373066	T;T	0.81415	0.48;-1.49	5.93	5.93	0.95920	.	.	.	.	.	D	0.84741	0.5539	.	.	.	0.80722	D	1	P;P	0.48089	0.905;0.905	P;P	0.49708	0.62;0.62	D	0.85941	0.1458	8	0.72032	D	0.01	.	17.4997	0.87727	0.0:1.0:0.0:0.0	.	67;67	Q6KCM7-5;Q6KCM7-4	.;.	H	67	ENSP00000410053:P67H;ENSP00000362157:P67H	ENSP00000362157:P67H	P	+	2	0	SLC25A25	129894170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.770000	0.62309	2.815000	0.96918	0.561000	0.74099	CCT	SLC25A25	-	NULL	ENSG00000148339		0.542	SLC25A25-001	KNOWN	basic|CCDS	protein_coding	SLC25A25	HGNC	protein_coding	OTTHUMT00000054406.1	-	0.00	68	0	C	NM_052901		130854349	+1	tier1	-	no_errors	ENST00000373066	ensembl	human	known	74_37	missense	26.42	39	14	SNP	1.000	A
SLC26A1	10861	genome.wustl.edu	37	4	985263	985263	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:985263G>A	ENST00000361661.2	-	3	606	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	SLC26A1_ENST00000398520.2_Silent_p.L77L|SLC26A1_ENST00000398516.2_Silent_p.L77L|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	77					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCGATGACCAGCCCAGACATG	0.667																																																	0													67.0	61.0	63.0					4																	985263		2202	4300	6502	SO:0001819	synonymous_variant	0			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.229C>T	4.37:g.985263G>A			A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.L77	ENST00000361661.2	37	c.229	CCDS33934.1	4																																																																																			SLC26A1	-	tigrfam_SulP_transpt	ENSG00000145217		0.667	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A1	HGNC	protein_coding	OTTHUMT00000358783.1	-	0.00	49	0	G	NM_022042, NM_134425		985263	-1	tier1	-	no_errors	ENST00000361661	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.240	A
SLC26A7	115111	genome.wustl.edu	37	8	92352747	92352747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:92352747delA	ENST00000276609.3	+	8	1233	c.994delA	c.(994-996)aaafs	p.K333fs	SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.K333fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.K333fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.K333fs*20(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGGATCTGCCAAAAAATTCAA	0.502																																																	1	Deletion - Frameshift(1)	large_intestine(1)											97.0	90.0	92.0					8																	92352747		2203	4300	6503	SO:0001589	frameshift_variant	0			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.994delA	8.37:g.92352747delA	ENSP00000276609:p.Lys333fs			Frame_Shift_Del	DEL	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.K333fs	ENST00000276609.3	37	c.994	CCDS6254.1	8																																																																																			SLC26A7	-	pfam_Sulph_transpt	ENSG00000147606		0.502	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377011.1		0.00	59	0	A			92352747	+1	tier1		no_errors	ENST00000309536	ensembl	human	known	74_37	frame_shift_del	13.51	64	10	DEL	1.000	-
SLC28A3	64078	genome.wustl.edu	37	9	86955495	86955495	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:86955495G>T	ENST00000376238.4	-	1	103	c.54C>A	c.(52-54)ggC>ggA	p.G18G	SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	18					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TCACCTGGAAGCCCACGTTGC	0.537																																					Ovarian(106;425 1539 34835 42413 43572)												0													146.0	128.0	134.0					9																	86955495		2203	4300	6503	SO:0001819	synonymous_variant	0			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.54C>A	9.37:g.86955495G>T			A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.G18	ENST00000376238.4	37	c.54	CCDS6670.1	9																																																																																			SLC28A3	-	NULL	ENSG00000197506		0.537	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC28A3	HGNC	protein_coding	OTTHUMT00000052874.1	-	0.00	63	0	G	NM_022127		86955495	-1	tier1	-	no_errors	ENST00000376238	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.013	T
SLC2A12	154091	genome.wustl.edu	37	6	134327992	134327992	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:134327992C>T	ENST00000275230.5	-	3	1680	c.1525G>A	c.(1525-1527)Ggc>Agc	p.G509S		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	509					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AGATTGATGCCCCAGTTCATG	0.473																																					Melanoma(122;1663 1672 14489 35294 41228)												0													138.0	113.0	122.0					6																	134327992		2203	4300	6503	SO:0001583	missense	0			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1525G>A	6.37:g.134327992C>T	ENSP00000275230:p.Gly509Ser		B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.G509S	ENST00000275230.5	37	c.1525	CCDS5169.1	6	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704750	0.68615	.	.	ENSG00000146411	ENST00000275230	T	0.73897	-0.79	5.89	5.02	0.67125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.111716	0.64402	D	0.000009	T	0.55545	0.1927	L	0.41632	1.29	0.50632	D	0.99988	B	0.15473	0.013	B	0.16289	0.015	T	0.56529	-0.7964	10	0.49607	T	0.09	-9.6659	14.4699	0.67509	0.0:0.9301:0.0:0.0699	.	509	Q8TD20	GTR12_HUMAN	S	509	ENSP00000275230:G509S	ENSP00000275230:G509S	G	-	1	0	SLC2A12	134369685	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.864000	0.62990	2.793000	0.96121	0.655000	0.94253	GGC	SLC2A12	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146411		0.473	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	-	0.00	49	0	C			134327992	-1	tier1	-	no_errors	ENST00000275230	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	T
SLC2A13	114134	genome.wustl.edu	37	12	40345040	40345040	+	Intron	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:40345040G>A	ENST00000280871.4	-	4	1085				SLC2A13_ENST00000380858.1_Silent_p.G351G	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TCAGTAAAAAGCCAGAAAGAA	0.358										HNSCC(50;0.14)																																							0													65.0	64.0	64.0					12																	40345040		2203	4300	6503	SO:0001627	intron_variant	0			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1034+18C>T	12.37:g.40345040G>A			Q17S07	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.G351	ENST00000280871.4	37	c.1053	CCDS8736.2	12																																																																																			SLC2A13	-	pfscan_MFS_dom	ENSG00000151229		0.358	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A13	HGNC	protein_coding	OTTHUMT00000132849.2	-	0.00	91	0	G			40345040	-1	tier1	-	no_errors	ENST00000380858	ensembl	human	putative	74_37	silent	16.67	65	13	SNP	0.040	A
SLC2A9	56606	genome.wustl.edu	37	4	9922179	9922179	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:9922179C>T	ENST00000264784.3	-	7	885	c.832G>A	c.(832-834)Ggt>Agt	p.G278S	RP13-560N11.1_ENST00000504249.1_RNA|SLC2A9_ENST00000309065.3_Missense_Mutation_p.G249S|SLC2A9_ENST00000506583.1_Missense_Mutation_p.G249S	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	278					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TCTGCTTTACCCAAGAACGTT	0.582																																																	0													52.0	46.0	48.0					4																	9922179		2203	4300	6503	SO:0001583	missense	0			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.832G>A	4.37:g.9922179C>T	ENSP00000264784:p.Gly278Ser		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.G278S	ENST00000264784.3	37	c.832	CCDS3407.1	4	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590672	0.66219	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.76968	-1.06;-1.06;-1.06	4.9	4.9	0.64082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90065	0.6897	M	0.91038	3.17	0.53688	D	0.999977	D;D	0.65815	0.995;0.987	D;D	0.67103	0.915;0.949	D	0.92092	0.5681	9	.	.	.	.	17.4309	0.87539	0.0:1.0:0.0:0.0	.	249;278	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	S	249;278;249	ENSP00000422209:G249S;ENSP00000264784:G278S;ENSP00000311383:G249S	.	G	-	1	0	SLC2A9	9531277	1.000000	0.71417	0.965000	0.40720	0.018000	0.09664	7.062000	0.76706	2.427000	0.82271	0.650000	0.86243	GGT	SLC2A9	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000109667		0.582	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	-	0.00	29	0	C			9922179	-1	tier1	-	no_errors	ENST00000264784	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	T
SLC30A10	55532	genome.wustl.edu	37	1	220088998	220088998	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:220088998delG	ENST00000366926.3	-	4	1412	c.1251delC	c.(1249-1251)cccfs	p.P417fs	SLC30A10_ENST00000536446.1_Frame_Shift_Del_p.P172fs|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	417					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCAGTGCCCCGGGGGGACAAC	0.562																																					Colon(76;360 1614 43677 51136)												0													87.0	85.0	86.0					1																	220088998		2203	4300	6503	SO:0001589	frameshift_variant	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1251delC	1.37:g.220088998delG	ENSP00000355893:p.Pro417fs		Q49AL9|Q9NPW0	Frame_Shift_Del	DEL	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A419fs	ENST00000366926.3	37	c.1251	CCDS31026.1	1																																																																																			SLC30A10	-	NULL	ENSG00000196660		0.562	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1		0.00	41	0	G	NM_018713		220088998	-1	tier1		no_errors	ENST00000366926	ensembl	human	known	74_37	frame_shift_del	16.67	35	7	DEL	0.000	-
SLC30A5	64924	genome.wustl.edu	37	5	68398896	68398896	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:68398896delT	ENST00000396591.3	+	3	824	c.214delT	c.(214-216)tttfs	p.F73fs	SLC30A5_ENST00000380860.4_Frame_Shift_Del_p.F73fs|SLC30A5_ENST00000502979.1_Frame_Shift_Del_p.F32fs	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	73					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CAGGACTGCATTTTTTATGGT	0.279																																																	0																																										SO:0001589	frameshift_variant	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.214delT	5.37:g.68398896delT	ENSP00000379836:p.Phe73fs		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Frame_Shift_Del	DEL	pfam_Cation_efflux,tigrfam_Cation_efflux	p.F73fs	ENST00000396591.3	37	c.214	CCDS3996.1	5																																																																																			SLC30A5	-	NULL	ENSG00000145740		0.279	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2		0.00	125	0	T			68398896	+1	tier1		no_errors	ENST00000396591	ensembl	human	known	74_37	frame_shift_del	22.70	109	32	DEL	0.996	-
SLC38A9	153129	genome.wustl.edu	37	5	55008154	55008154	+	5'UTR	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:55008154G>A	ENST00000396865.2	-	0	400				SLC38A9_ENST00000504880.1_5'UTR	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ACAGGAAGCGGCAATAGCCTG	0.587																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.-192C>T	5.37:g.55008154G>A			B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	RNA	SNP	-	NULL	ENST00000396865.2	37	NULL	CCDS3968.1	5																																																																																			SLC38A9	-	-	ENSG00000177058		0.587	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A9	HGNC	protein_coding	OTTHUMT00000253912.2	-	0.00	85	0	G	NM_173514		55008154	-1	tier1	-	no_errors	ENST00000502416	ensembl	human	known	74_37	rna	15.28	61	11	SNP	0.321	A
SLC30A5	64924	genome.wustl.edu	37	5	68411969	68411969	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:68411969G>T	ENST00000396591.3	+	9	1610	c.1000G>T	c.(1000-1002)Gca>Tca	p.A334S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	334					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TATGAACAAAGCAGCACACCA	0.418																																																	0													116.0	120.0	119.0					5																	68411969		2203	4300	6503	SO:0001583	missense	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1000G>T	5.37:g.68411969G>T	ENSP00000379836:p.Ala334Ser		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A334S	ENST00000396591.3	37	c.1000	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331541	0.24167	.	.	ENSG00000145740	ENST00000396591	T	0.62941	-0.01	5.68	2.51	0.30379	.	0.143208	0.64402	D	0.000005	T	0.36358	0.0964	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.24258	0.1;0.073;0.042	B;B;B	0.24394	0.02;0.053;0.015	T	0.16897	-1.0387	10	0.09338	T	0.73	.	16.3229	0.82958	0.0:0.6651:0.3349:0.0	.	163;163;334	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	S	334	ENSP00000379836:A334S	ENSP00000379836:A334S	A	+	1	0	SLC30A5	68447725	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	3.647000	0.54403	0.806000	0.34183	0.585000	0.79938	GCA	SLC30A5	-	NULL	ENSG00000145740		0.418	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	-	0.00	49	0	G			68411969	+1	tier1	-	no_errors	ENST00000396591	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.974	T
SLC39A3	29985	genome.wustl.edu	37	19	2737237	2737237	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:2737237C>T	ENST00000269740.4	-	2	348	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	SLC39A3_ENST00000455372.2_Missense_Mutation_p.A7T|SLC39A3_ENST00000590875.1_5'Flank|AC006538.4_ENST00000586572.1_Missense_Mutation_p.A7T|SLC39A3_ENST00000545664.1_Missense_Mutation_p.A7T	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	7					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGATTTTGGCCACTAGCAAT	0.577																																																	0													82.0	78.0	79.0					19																	2737237		2203	4300	6503	SO:0001583	missense	0			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.19G>A	19.37:g.2737237C>T	ENSP00000269740:p.Ala7Thr		B3KMJ3|Q8WUG1	Missense_Mutation	SNP	pfam_ZIP	p.A7T	ENST00000269740.4	37	c.19	CCDS12093.1	19	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199701	0.79015	.	.	ENSG00000141873	ENST00000545664;ENST00000269740;ENST00000455372	T;T;T	0.50277	0.75;0.75;0.75	5.12	4.09	0.47781	.	0.059130	0.64402	D	0.000003	T	0.49389	0.1554	M	0.73962	2.25	0.45318	D	0.998316	D;P;P	0.55800	0.973;0.925;0.645	B;B;P	0.44477	0.44;0.439;0.451	T	0.54159	-0.8335	10	0.40728	T	0.16	-0.1492	11.7684	0.51943	0.0:0.913:0.0:0.087	.	7;7;7	F5H385;Q9BRY0-2;Q9BRY0	.;.;S39A3_HUMAN	T	7	ENSP00000445345:A7T;ENSP00000269740:A7T;ENSP00000393715:A7T	ENSP00000269740:A7T	A	-	1	0	SLC39A3	2688237	1.000000	0.71417	0.940000	0.37924	0.836000	0.47400	3.221000	0.51215	2.374000	0.81015	0.561000	0.74099	GCC	SLC39A3	-	pfam_ZIP	ENSG00000141873		0.577	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A3	HGNC	protein_coding	OTTHUMT00000451354.2	-	0.00	59	0	C			2737237	-1	tier1	-	no_errors	ENST00000269740	ensembl	human	known	74_37	missense	14.86	63	11	SNP	1.000	T
SLC39A7	7922	genome.wustl.edu	37	6	33171577	33171577	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:33171577C>T	ENST00000374677.3	+	7	1770	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	SLC39A7_ENST00000374675.3_Missense_Mutation_p.A466V|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	466				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTGCTGATTGCCCACCTTGAG	0.597																																																	0													58.0	61.0	60.0					6																	33171577		2001	4159	6160	SO:0001583	missense	0			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1397C>T	6.37:g.33171577C>T	ENSP00000363809:p.Ala466Val		B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.A466V	ENST00000374677.3	37	c.1397	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024657	0.75390	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.55234	0.53;0.53	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.90870	3.155	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.994;0.998	T	0.80228	-0.1469	10	0.72032	D	0.01	-10.7891	15.3789	0.74637	0.0:1.0:0.0:0.0	.	447;466	B4DVK8;Q92504	.;S39A7_HUMAN	V	466;447;371;466	ENSP00000363807:A466V;ENSP00000363809:A466V	ENSP00000363807:A466V	A	+	2	0	SLC39A7	33279555	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.918000	0.69996	2.494000	0.84150	0.549000	0.68633	GCC	SLC39A7	-	pfam_ZIP	ENSG00000112473		0.597	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2		0.00	43	0	C	NM_006979		33171577	+1			no_errors	ENST00000374675	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T
SLC43A1	8501	genome.wustl.edu	37	11	57254668	57254668	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:57254668G>A	ENST00000278426.3	-	14	1788	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	SLC43A1_ENST00000528450.1_Missense_Mutation_p.T478M	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCCTGTCAGCGTCCCAAAGTG	0.612																																																	0													105.0	77.0	87.0					11																	57254668		2201	4296	6497	SO:0001583	missense	0			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1433C>T	11.37:g.57254668G>A	ENSP00000278426:p.Thr478Met			Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T478M	ENST00000278426.3	37	c.1433	CCDS7958.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.169087|4.169087	0.78339|0.78339	.|.	.|.	ENSG00000149150|ENSG00000149150	ENST00000525764|ENST00000278426;ENST00000528450	.|T;T	.|0.61742	.|0.08;0.08	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.188031	.|0.44902	.|D	.|0.000414	T|T	0.70360|0.70360	0.3215|0.3215	M|M	0.65498|0.65498	2.005|2.005	0.47037|0.47037	D|D	0.999294|0.999294	.|D	.|0.62365	.|0.991	.|P	.|0.61940	.|0.896	T|T	0.72994|0.72994	-0.4122|-0.4122	5|10	.|0.66056	.|D	.|0.02	-19.5839|-19.5839	12.8552|12.8552	0.57882|0.57882	0.0:0.1645:0.8355:0.0|0.0:0.1645:0.8355:0.0	.|.	.|478	.|O75387	.|LAT3_HUMAN	C|M	181|478	.|ENSP00000278426:T478M;ENSP00000435673:T478M	.|ENSP00000278426:T478M	R|T	-|-	1|2	0|0	SLC43A1|SLC43A1	57011244|57011244	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.977000|0.977000	0.68977|0.68977	3.671000|3.671000	0.54576|0.54576	2.560000|2.560000	0.86352|0.86352	0.462000|0.462000	0.41574|0.41574	CGC|ACG	SLC43A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000149150		0.612	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC43A1	HGNC	protein_coding	OTTHUMT00000392541.1	-	0.00	98	0	G	NM_003627		57254668	-1	tier1	-	no_errors	ENST00000278426	ensembl	human	known	74_37	missense	12.82	68	10	SNP	0.997	A
SLC43A1	8501	genome.wustl.edu	37	11	57265290	57265290	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:57265290G>T	ENST00000278426.3	-	6	849	c.494C>A	c.(493-495)tCc>tAc	p.S165Y	SLC43A1_ENST00000528450.1_Missense_Mutation_p.S165Y|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CATTAACGTGGAGCGCAGGTT	0.552																																																	0													128.0	98.0	108.0					11																	57265290		2201	4296	6497	SO:0001583	missense	0			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.494C>A	11.37:g.57265290G>T	ENSP00000278426:p.Ser165Tyr			Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S165Y	ENST00000278426.3	37	c.494	CCDS7958.1	11	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945809	0.92593	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.60299	0.2;0.2	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	M	0.78456	2.415	0.52501	D	0.999955	D	0.89917	1.0	D	0.87578	0.998	T	0.78112	-0.2331	10	0.54805	T	0.06	-27.7328	16.3713	0.83361	0.0:0.0:1.0:0.0	.	165	O75387	LAT3_HUMAN	Y	165	ENSP00000278426:S165Y;ENSP00000435673:S165Y	ENSP00000278426:S165Y	S	-	2	0	SLC43A1	57021866	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	8.567000	0.90737	2.590000	0.87494	0.650000	0.86243	TCC	SLC43A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000149150		0.552	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC43A1	HGNC	protein_coding	OTTHUMT00000392541.1		0.00	37	0	G	NM_003627		57265290	-1			no_errors	ENST00000278426	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
SLC4A7	9497	genome.wustl.edu	37	3	27450945	27450945	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:27450945G>T	ENST00000295736.5	-	13	1886	c.1816C>A	c.(1816-1818)Ctg>Atg	p.L606M	SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L615M|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L156M|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L487M|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L482M|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L602M|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L598M|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L487M|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L602M|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L491M	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	606					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	AGGCACTGCAGGCTTAATGCA	0.433																																																	0													149.0	150.0	149.0					3																	27450945		2203	4300	6503	SO:0001583	missense	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1816C>A	3.37:g.27450945G>T	ENSP00000295736:p.Leu606Met		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.L615M	ENST00000295736.5	37	c.1843	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628991	0.67015	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.71	5.71	0.89125	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.89602	0.6762	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.986;0.999;0.999;1.0;0.99;0.982;1.0;0.986	D;D;D;D;D;D;D;D;D	0.81914	0.995;0.979;0.99;0.99;0.995;0.97;0.964;0.995;0.979	D	0.87559	0.2470	10	0.35671	T	0.21	.	19.857	0.96762	0.0:0.0:1.0:0.0	.	602;487;598;602;615;156;482;606;487	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	M	157;606;482;615;602;487;598;487;602;491;156;502	ENSP00000411031:L157M;ENSP00000295736:L606M;ENSP00000416368:L482M;ENSP00000390394:L615M;ENSP00000414797:L602M;ENSP00000394252:L487M;ENSP00000406605:L598M;ENSP00000407382:L487M;ENSP00000406804:L602M;ENSP00000395336:L491M;ENSP00000373429:L156M;ENSP00000388703:L502M	ENSP00000295736:L606M	L	-	1	2	SLC4A7	27425949	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.889000	0.87307	2.690000	0.91761	0.585000	0.79938	CTG	SLC4A7	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.433	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2		0.00	46	0	G	NM_003615		27450945	-1			no_errors	ENST00000454389	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	T
SLC4A8	9498	genome.wustl.edu	37	12	51868866	51868866	+	Missense_Mutation	SNP	C	C	T	rs376308798		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:51868866C>T	ENST00000453097.2	+	16	2265	c.2048C>T	c.(2047-2049)gCg>gTg	p.A683V	SLC4A8_ENST00000514353.3_Missense_Mutation_p.A630V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.A630V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.A710V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATGGGATCTGCGTGCGGCCAT	0.463																																																	0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	230.0	194.0	206.0		2048,2048	4.4	0.8	12		206	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC4A8	NM_001039960.1,NM_004858.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	683/1094,683/1045	51868866	1,13005	2203	4300	6503	SO:0001583	missense	0			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2048C>T	12.37:g.51868866C>T	ENSP00000405812:p.Ala683Val			Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.A683V	ENST00000453097.2	37	c.2048	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216594	0.79352	0.0	1.16E-4	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.32	4.44	0.53790	Bicarbonate transporter, C-terminal (1);	0.100198	0.64402	D	0.000002	D	0.87517	0.6197	M	0.82132	2.575	0.80722	D	1	B;P;D;D	0.89917	0.075;0.533;1.0;0.998	B;B;D;D	0.75484	0.02;0.146;0.986;0.947	D	0.88685	0.3205	10	0.59425	D	0.04	.	13.5181	0.61551	0.0:0.9229:0.0:0.0771	.	630;710;683;683	E7EML0;Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;.;S4A8_HUMAN;.	V	710;683;630;683;630;630	ENSP00000351483:A710V;ENSP00000405812:A683V;ENSP00000378325:A630V;ENSP00000442561:A630V	ENSP00000315789:A683V	A	+	2	0	SLC4A8	50155133	1.000000	0.71417	0.807000	0.32361	0.550000	0.35303	6.087000	0.71362	1.408000	0.46895	0.563000	0.77884	GCG	SLC4A8	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000050438		0.463	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	-	0.00	53	0	C	NM_004858		51868866	+1	tier1	-	no_errors	ENST00000453097	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.999	T
SLC5A11	115584	genome.wustl.edu	37	16	24919407	24919407	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:24919407G>A	ENST00000347898.3	+	13	2011	c.1389G>A	c.(1387-1389)gcG>gcA	p.A463A	SLC5A11_ENST00000568579.1_Silent_p.A393A|SLC5A11_ENST00000449109.2_Silent_p.A307A|SLC5A11_ENST00000539472.1_Silent_p.A399A|SLC5A11_ENST00000567758.1_Silent_p.A428A|SLC5A11_ENST00000565769.1_Silent_p.A399A|SLC5A11_ENST00000569071.1_Silent_p.A307A|SLC5A11_ENST00000545376.1_Silent_p.A393A|SLC5A11_ENST00000424767.2_Silent_p.A428A	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CGCCTGTGGCGGTGGTCTTCA	0.572																																																	0													91.0	99.0	96.0					16																	24919407		2197	4300	6497	SO:0001819	synonymous_variant	0			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1389G>A	16.37:g.24919407G>A				Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.A463	ENST00000347898.3	37	c.1389	CCDS10625.1	16																																																																																			SLC5A11	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000158865		0.572	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	-	0.00	60	0	G	NM_052944		24919407	+1	tier1	-	no_errors	ENST00000347898	ensembl	human	known	74_37	silent	18.75	39	9	SNP	0.043	A
SLC5A7	60482	genome.wustl.edu	37	2	108626718	108626718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:108626718C>T	ENST00000264047.2	+	9	1420	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	SLC5A7_ENST00000540517.1_Nonsense_Mutation_p.R277*|SLC5A7_ENST00000409059.1_Nonsense_Mutation_p.R382*	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	382					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTGGGTTATGCGAATCACAGT	0.448																																																	0													175.0	138.0	151.0					2																	108626718		2203	4300	6503	SO:0001587	stop_gained	0			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1144C>T	2.37:g.108626718C>T	ENSP00000264047:p.Arg382*		Q53TF2	Nonsense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	p.R382*	ENST00000264047.2	37	c.1144	CCDS2074.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.786878	0.97837	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	.	.	.	5.85	1.3	0.21679	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9117	15.2373	0.73441	0.5297:0.4703:0.0:0.0	.	.	.	.	X	382;277;382	.	ENSP00000264047:R382X	R	+	1	2	SLC5A7	107993150	0.998000	0.40836	0.998000	0.56505	0.876000	0.50452	0.610000	0.24253	0.301000	0.22738	0.650000	0.86243	CGA	SLC5A7	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	ENSG00000115665		0.448	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A7	HGNC	protein_coding	OTTHUMT00000253562.1	-	0.00	86	0	C			108626718	+1	tier1	-	no_errors	ENST00000264047	ensembl	human	known	74_37	nonsense	31.82	45	21	SNP	1.000	T
SLC6A14	11254	genome.wustl.edu	37	X	115569030	115569030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:115569030delA	ENST00000371900.4	+	2	209	c.121delA	c.(121-123)aaafs	p.K42fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	42					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TAACTGGTCCAAAAAATCGGA	0.408																																																	0													150.0	147.0	148.0					X																	115569030		2203	4300	6503	SO:0001589	frameshift_variant	0			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.121delA	X.37:g.115569030delA	ENSP00000360967:p.Lys42fs		Q5H942	Frame_Shift_Del	DEL	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.K42fs	ENST00000371900.4	37	c.121	CCDS14570.1	X																																																																																			SLC6A14	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000087916		0.408	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1		0.00	117	0	A			115569030	+1	tier1		no_errors	ENST00000371900	ensembl	human	known	74_37	frame_shift_del	24.32	56	18	DEL	1.000	-
SLC6A9	6536	genome.wustl.edu	37	1	44468596	44468596	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:44468596G>T	ENST00000360584.2	-	6	1062	c.871C>A	c.(871-873)Ctt>Att	p.L291I	SLC6A9_ENST00000372310.3_Missense_Mutation_p.L218I|SLC6A9_ENST00000537678.1_Missense_Mutation_p.L153I|SLC6A9_ENST00000372307.3_Missense_Mutation_p.L153I|SLC6A9_ENST00000372306.3_Missense_Mutation_p.L218I|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L107I|SLC6A9_ENST00000357730.2_Missense_Mutation_p.L237I	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	291					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGGCAGCCAAGGAGGGGCAGC	0.617																																																	0													126.0	133.0	131.0					1																	44468596		2203	4300	6503	SO:0001583	missense	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.871C>A	1.37:g.44468596G>T	ENSP00000353791:p.Leu291Ile		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.L291I	ENST00000360584.2	37	c.871	CCDS41317.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260082	0.80246	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.12	5.12	0.69794	.	0.233238	0.37437	N	0.002098	D	0.84174	0.5414	L	0.58101	1.795	0.58432	D	0.999999	D;P;P;P;P;D	0.76494	0.999;0.89;0.89;0.539;0.539;0.999	D;P;P;B;B;D	0.87578	0.984;0.69;0.474;0.234;0.234;0.998	T	0.82717	-0.0319	10	0.39692	T	0.17	.	18.7515	0.91818	0.0:0.0:1.0:0.0	.	222;218;153;218;237;291	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	I	153;218;218;107;291;237;153	ENSP00000361381:L153I;ENSP00000361380:L218I;ENSP00000361384:L218I;ENSP00000434460:L107I;ENSP00000353791:L291I;ENSP00000350362:L237I;ENSP00000442523:L153I	ENSP00000350362:L237I	L	-	1	0	SLC6A9	44241183	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.787000	0.85759	2.667000	0.90743	0.655000	0.94253	CTT	SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000196517		0.617	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	-	0.00	72	0	G	NM_201649		44468596	-1	tier1	-	no_errors	ENST00000360584	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	T
SLC8A1	6546	genome.wustl.edu	37	2	40657337	40657337	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:40657337G>T	ENST00000403092.1	-	2	117	c.84C>A	c.(82-84)tcC>tcA	p.S28S	SLC8A1_ENST00000332839.4_Silent_p.S28S|SLC8A1_ENST00000408028.2_Silent_p.S28S|SLC8A1_ENST00000405901.3_Silent_p.S28S|SLC8A1_ENST00000542024.1_Silent_p.S28S|SLC8A1_ENST00000406785.2_Silent_p.S28S|SLC8A1_ENST00000406391.2_Silent_p.S28S|SLC8A1_ENST00000405269.1_Silent_p.S28S|SLC8A1_ENST00000402441.1_Silent_p.S28S|SLC8A1_ENST00000542756.1_Silent_p.S28S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	28					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTCCACATGGGAAAATAAGA	0.403																																																	0													106.0	105.0	105.0					2																	40657337		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.84C>A	2.37:g.40657337G>T			A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.S28	ENST00000403092.1	37	c.84	CCDS1806.1	2																																																																																			SLC8A1	-	prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	ENSG00000183023		0.403	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	-	0.00	32	0	G	NM_021097		40657337	-1	tier1	-	no_errors	ENST00000332839	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.997	T
SLC9A1	6548	genome.wustl.edu	37	1	27429000	27429000	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:27429000C>T	ENST00000263980.3	-	8	2271	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Missense_Mutation_p.E227K	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	566					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTGGAGCGCTCGCCAGCTATC	0.582											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													101.0	106.0	104.0					1																	27429000		2203	4300	6503	SO:0001583	missense	0			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1696G>A	1.37:g.27429000C>T	ENSP00000263980:p.Glu566Lys	794	B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E566K	ENST00000263980.3	37	c.1696	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.626083	0.96671	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949	T;T	0.45276	0.9;1.48	5.04	5.04	0.67666	.	0.048638	0.85682	D	0.000000	T	0.42086	0.1187	L	0.55103	1.725	0.80722	D	1	B	0.26975	0.165	B	0.24848	0.056	T	0.30119	-0.9989	10	0.41790	T	0.15	.	18.1634	0.89717	0.0:1.0:0.0:0.0	.	566	P19634	SL9A1_HUMAN	K	566;70;227	ENSP00000263980:E566K;ENSP00000445520:E227K	ENSP00000263980:E566K	E	-	1	0	SLC9A1	27301587	1.000000	0.71417	0.982000	0.44146	0.969000	0.65631	4.633000	0.61318	2.623000	0.88846	0.561000	0.74099	GAG	SLC9A1	-	tigrfam_NaH_exchanger	ENSG00000090020		0.582	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	-	0.00	45	0	C	NM_003047		27429000	-1	tier1	-	no_errors	ENST00000263980	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	T
SLC9A3R1	9368	genome.wustl.edu	37	17	72758236	72758236	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:72758236G>C	ENST00000262613.5	+	2	722	c.527G>C	c.(526-528)gGc>gCc	p.G176A	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.G20A	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	176	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						TCCAAGCCAGGCCAGTTCATC	0.627																																																	0													80.0	77.0	78.0					17																	72758236		2203	4300	6503	SO:0001583	missense	0			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.527G>C	17.37:g.72758236G>C	ENSP00000262613:p.Gly176Ala		B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	p.G176A	ENST00000262613.5	37	c.527	CCDS11705.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.090737	0.94149	.	.	ENSG00000109062	ENST00000262613;ENST00000413388	T	0.58940	0.3	5.27	5.27	0.74061	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	M	0.85299	2.745	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.82862	-0.0247	10	0.66056	D	0.02	-18.4203	18.8824	0.92362	0.0:0.0:1.0:0.0	.	176	O14745	NHRF1_HUMAN	A	176;126	ENSP00000262613:G176A	ENSP00000262613:G176A	G	+	2	0	SLC9A3R1	70269831	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.786000	0.99046	2.450000	0.82876	0.561000	0.74099	GGC	SLC9A3R1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	ENSG00000109062		0.627	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3R1	HGNC	protein_coding	OTTHUMT00000443671.1	-	0.00	55	0	G			72758236	+1	tier1	-	no_errors	ENST00000262613	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	C
SLC9A7P1	121456	genome.wustl.edu	37	12	98849361	98849361	+	RNA	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:98849361G>T	ENST00000554295.1	-	0	1562					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		TCCAGATGGTGAAGAACACGA	0.537																																																	0																																												0					12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98849361G>T				RNA	SNP	-	NULL	ENST00000554295.1	37	NULL		12																																																																																			SLC9A7P1	-	-	ENSG00000227825		0.537	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	SLC9A7P1	HGNC	pseudogene	OTTHUMT00000409869.1		0.00	64	0	G			98849361	-1			no_errors	ENST00000554295	ensembl	human	putative	74_37	rna	6.78	53	4	SNP	1.000	T
SLC9C1	285335	genome.wustl.edu	37	3	111936361	111936362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:111936361_111936362insT	ENST00000305815.5	-	15	1969_1970	c.1717_1718insA	c.(1717-1719)acafs	p.T573fs	SLC9C1_ENST00000487372.1_Frame_Shift_Ins_p.T525fs	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	573					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AAAGGTAACTGTTTTTTGGCTT	0.297																																																	0																																										SO:0001589	frameshift_variant	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1718dupA	3.37:g.111936367_111936367dupT	ENSP00000306627:p.Thr573fs		Q6ZRP4|Q7RTP2	Frame_Shift_Ins	INS	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.T573fs	ENST00000305815.5	37	c.1718_1717	CCDS33817.1	3																																																																																			SLC9C1	-	NULL	ENSG00000172139		0.297	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1		0.00	77	0	-	NM_183061		111936362	-1	tier1		no_errors	ENST00000305815	ensembl	human	known	74_37	frame_shift_ins	11.76	75	10	INS	0.000:0.000	T
SLCO2A1	6578	genome.wustl.edu	37	3	133666102	133666103	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:133666102_133666103insG	ENST00000310926.4	-	9	1565_1566	c.1292_1293insC	c.(1291-1293)cctfs	p.P431fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.P355fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	431					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CCCATTACCTAGGGGGGTAGAC	0.485																																																	0																																										SO:0001589	frameshift_variant	0				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1293dupC	3.37:g.133666108_133666108dupG	ENSP00000311291:p.Pro431fs		Q86V98|Q8IUN2	Frame_Shift_Ins	INS	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S432fs	ENST00000310926.4	37	c.1293_1292	CCDS3084.1	3																																																																																			SLCO2A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000174640		0.485	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1		0.00	33	0	-	NM_005630		133666103	-1	tier1		no_errors	ENST00000310926	ensembl	human	known	74_37	frame_shift_ins	11.90	37	5	INS	0.371:0.000	G
SLC9A9	285195	genome.wustl.edu	37	3	143513850	143513850	+	Missense_Mutation	SNP	C	C	T	rs375659735		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:143513850C>T	ENST00000316549.6	-	4	734	c.526G>A	c.(526-528)Gtc>Atc	p.V176I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	176					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TACCCTATGACGATGCAGGAG	0.443																																																	0								C	ILE/VAL	0,4406		0,0,2203	112.0	106.0	108.0		526	4.3	0.8	3		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A9	NM_173653.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	176/646	143513850	1,13005	2203	4300	6503	SO:0001583	missense	0			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.526G>A	3.37:g.143513850C>T	ENSP00000320246:p.Val176Ile		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.V176I	ENST00000316549.6	37	c.526	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169910	0.38315	0.0	1.16E-4	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.15603	2.41	6.07	4.26	0.50523	Cation/H+ exchanger (1);	0.269957	0.31199	N	0.008079	T	0.10551	0.0258	N	0.17800	0.525	0.38705	D	0.953073	B	0.25486	0.127	B	0.20577	0.03	T	0.18967	-1.0320	10	0.23302	T	0.38	.	10.8841	0.46957	0.0:0.7972:0.1317:0.0711	.	176	Q8IVB4	SL9A9_HUMAN	I	176;59	ENSP00000320246:V176I	ENSP00000320246:V176I	V	-	1	0	SLC9A9	144996540	0.944000	0.32072	0.793000	0.32043	0.945000	0.59286	1.129000	0.31381	0.873000	0.35799	0.650000	0.86243	GTC	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000181804		0.443	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	-	0.00	61	0	C	NM_173653		143513850	-1	tier1	-	no_errors	ENST00000316549	ensembl	human	known	74_37	missense	23.64	42	13	SNP	0.989	T
SLCO5A1	81796	genome.wustl.edu	37	8	70674105	70674105	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:70674105T>C	ENST00000260126.4	-	3	1619	c.913A>G	c.(913-915)Atg>Gtg	p.M305V	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.M305V|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.M305V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGACATACATGATGGCTGAG	0.423																																																	0													89.0	85.0	86.0					8																	70674105		2203	4300	6503	SO:0001583	missense	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.913A>G	8.37:g.70674105T>C	ENSP00000260126:p.Met305Val		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.M305V	ENST00000260126.4	37	c.913	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987648	0.53934	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.57107	0.42;0.42;0.42	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	N	0.10685	0.025	0.47441	D	0.999429	B;B;B;B	0.32409	0.005;0.37;0.014;0.035	B;B;B;B	0.35510	0.009;0.204;0.038;0.021	T	0.23833	-1.0177	10	0.24483	T	0.36	.	15.0554	0.71910	0.0:0.0:0.0:1.0	.	305;305;305;305	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	V	305	ENSP00000260126:M305V;ENSP00000434422:M305V;ENSP00000431611:M305V	ENSP00000260126:M305V	M	-	1	0	SLCO5A1	70836659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.186000	0.72026	1.969000	0.57287	0.377000	0.23210	ATG	SLCO5A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000137571		0.423	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	-	0.00	44	0	T	NM_030958		70674105	-1	tier1	-	no_errors	ENST00000260126	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	C
SLIT2	9353	genome.wustl.edu	37	4	20255565	20255565	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:20255565G>A	ENST00000504154.1	+	1	379	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	SLIT2_ENST00000273739.5_Missense_Mutation_p.G43R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G43R|SLIT2_ENST00000503837.1_Missense_Mutation_p.G43R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	43	LRRNT.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.G43R(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTGTCACGGGCTGGCGCT	0.667																																																	1	Substitution - Missense(1)	lung(1)											93.0	79.0	84.0					4																	20255565		2203	4300	6503	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.127G>A	4.37:g.20255565G>A	ENSP00000422591:p.Gly43Arg		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.G43R	ENST00000504154.1	37	c.127	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.179606	0.94846	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	3.85	3.85	0.44370	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97349	0.9962	10	0.59425	D	0.04	.	15.8964	0.79338	0.0:0.0:1.0:0.0	.	43;43	O94813-3;O94813	.;SLIT2_HUMAN	R	43	ENSP00000427548:G43R;ENSP00000422591:G43R;ENSP00000273739:G43R;ENSP00000422261:G43R	ENSP00000273739:G43R	G	+	1	0	SLIT2	19864663	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.773000	0.91762	2.130000	0.65690	0.313000	0.20887	GGG	SLIT2	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000145147		0.667	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0.00	63	0	G			20255565	+1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	20.34	47	12	SNP	1.000	A
SLIT3	6586	genome.wustl.edu	37	5	168123370	168123372	+	In_Frame_Del	DEL	GTT	GTT	-	rs564660437		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GTT	GTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:168123370_168123372delGTT	ENST00000519560.1	-	28	3426_3428	c.3007_3009delAAC	c.(3007-3009)aacdel	p.N1003del	SLIT3_ENST00000404867.3_In_Frame_Del_p.N1003del|SLIT3_ENST00000332966.8_In_Frame_Del_p.N1010del	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1003	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTCGCAGTCGTTGTCCTCACAG	0.547																																					Ovarian(29;311 847 10864 17279 24903)												0																																										SO:0001651	inframe_deletion	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3007_3009delAAC	5.37:g.168123370_168123372delGTT	ENSP00000430333:p.Asn1003del		A6H8U9|J3KNP3|O95804|Q9UFH5	In_Frame_Del	DEL	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.N1003in_frame_del	ENST00000519560.1	37	c.3009_3007	CCDS4369.1	5																																																																																			SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184347		0.547	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0.00	51	0	GTT	NM_003062		168123372	-1	tier1		no_errors	ENST00000519560	ensembl	human	known	74_37	in_frame_del	25.00	45	15	DEL	0.954:1.000:1.000	-
SLITRK2	84631	genome.wustl.edu	37	X	144904398	144904398	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:144904398G>T	ENST00000370490.1	+	1	4710	c.455G>T	c.(454-456)gGg>gTg	p.G152V	SLITRK2_ENST00000447897.2_Missense_Mutation_p.G152V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G152V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G152V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G152V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	152					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATCGAGGCTGGGGCATTCAGC	0.507																																																	0													137.0	95.0	109.0					X																	144904398		2203	4300	6503	SO:0001583	missense	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.455G>T	X.37:g.144904398G>T	ENSP00000359521:p.Gly152Val		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G152V	ENST00000370490.1	37	c.455	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000932	0.74818	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.19	5.19	0.71726	.	0.000000	0.85682	U	0.000000	T	0.78091	0.4229	M	0.92784	3.345	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.84009	0.0347	10	0.72032	D	0.01	-7.7566	15.0584	0.71933	0.0:0.0:1.0:0.0	.	152	Q9H156	SLIK2_HUMAN	V	152	ENSP00000334374:G152V;ENSP00000411681:G152V;ENSP00000359521:G152V;ENSP00000397015:G152V;ENSP00000407347:G152V;ENSP00000412010:G152V	ENSP00000334374:G152V	G	+	2	0	SLITRK2	144712090	1.000000	0.71417	0.953000	0.39169	0.915000	0.54546	5.684000	0.68197	2.141000	0.66446	0.600000	0.82982	GGG	SLITRK2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000185985		0.507	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	0.00	36	0	G	NM_032539		144904398	+1	tier1	-	no_errors	ENST00000370490	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.998	T
SLITRK3	22865	genome.wustl.edu	37	3	164908289	164908289	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:164908289G>T	ENST00000475390.1	-	2	773	c.330C>A	c.(328-330)aaC>aaA	p.N110K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.N110K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	110					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCAATGCATTGTTCCCAAGAT	0.333										HNSCC(40;0.11)																																							0													50.0	51.0	51.0					3																	164908289		2202	4299	6501	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.330C>A	3.37:g.164908289G>T	ENSP00000420091:p.Asn110Lys		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N110K	ENST00000475390.1	37	c.330	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514217	0.44763	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.58797	0.31;0.31;0.31	5.99	5.99	0.97316	.	0.000000	0.41396	D	0.000900	T	0.78947	0.4364	M	0.81942	2.565	0.43971	D	0.996656	D	0.63880	0.993	D	0.72982	0.979	T	0.78448	-0.2200	10	0.54805	T	0.06	-21.1334	20.4756	0.99175	0.0:0.0:1.0:0.0	.	110	O94933	SLIK3_HUMAN	K	110	ENSP00000420091:N110K;ENSP00000241274:N110K;ENSP00000419611:N110K	ENSP00000241274:N110K	N	-	3	2	SLITRK3	166390983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.932000	0.56537	2.847000	0.97988	0.655000	0.94253	AAC	SLITRK3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000121871		0.333	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1		0.00	45	0	G	NM_014926		164908289	-1			no_errors	ENST00000241274	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
SLITRK5	26050	genome.wustl.edu	37	13	88327706	88327706	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:88327706G>A	ENST00000325089.6	+	2	282	c.63G>A	c.(61-63)tgG>tgA	p.W21*	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	21					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGCATAGCTGGATGCTGCAGA	0.448																																																	0													127.0	113.0	117.0					13																	88327706		2203	4300	6503	SO:0001587	stop_gained	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.63G>A	13.37:g.88327706G>A	ENSP00000366283:p.Trp21*		B3KNB8|B4DSH5|Q5VT81	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.W21*	ENST00000325089.6	37	c.63	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	33	5.221509	0.95139	.	.	ENSG00000165300	ENST00000325089	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.9636	17.49	0.87701	0.0:0.0:1.0:0.0	.	.	.	.	X	21	.	.	W	+	3	0	SLITRK5	87125707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.744000	0.94065	0.561000	0.74099	TGG	SLITRK5	-	NULL	ENSG00000165300		0.448	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0.00	64	0	G			88327706	+1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	nonsense	23.68	29	9	SNP	1.000	A
SLITRK5	26050	genome.wustl.edu	37	13	88330073	88330073	+	Silent	SNP	G	G	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:88330073G>C	ENST00000325089.6	+	2	2649	c.2430G>C	c.(2428-2430)ccG>ccC	p.P810P	SLITRK5_ENST00000400028.3_Silent_p.P569P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	810					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					agcagcccccgccgcagctgc	0.701																																																	0													8.0	11.0	10.0					13																	88330073		2003	4005	6008	SO:0001819	synonymous_variant	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2430G>C	13.37:g.88330073G>C			B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P810	ENST00000325089.6	37	c.2430	CCDS9465.1	13																																																																																			SLITRK5	-	NULL	ENSG00000165300		0.701	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0.00	24	0	G			88330073	+1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	silent	42.86	4	3	SNP	0.861	C
SLTM	79811	genome.wustl.edu	37	15	59182525	59182526	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:59182525_59182526delTC	ENST00000380516.2	-	15	2120_2121	c.2033_2034delGA	c.(2032-2034)agafs	p.R678fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	678	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCGTTCCATTCTCTCTCTCTC	0.431																																																	0																																										SO:0001589	frameshift_variant	0			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2033_2034delGA	15.37:g.59182535_59182536delTC	ENSP00000369887:p.Arg678fs		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.R678fs	ENST00000380516.2	37	c.2034_2033	CCDS10168.2	15																																																																																			SLTM	-	NULL	ENSG00000137776		0.431	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1		0.00	28	0	TC	NM_024755		59182526	-1	tier1		no_errors	ENST00000380516	ensembl	human	known	74_37	frame_shift_del	22.73	17	5	DEL	0.999:1.000	-
SMAD5	4090	genome.wustl.edu	37	5	135515157	135515157	+	3'UTR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:135515157delA	ENST00000514641.2	+	0	3748				SMAD5_ENST00000545279.1_3'UTR|SMAD5_ENST00000545620.1_3'UTR			Q99717	SMAD5_HUMAN	SMAD family member 5						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTTGTGAAGAAAAAAAAAAG	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000514641.2:c.*3745A>-	5.37:g.135515157delA			O14688|Q15798|Q9UQA1	RNA	DEL	-	NULL	ENST00000514641.2	37	NULL		5																																																																																			SMAD5	-	-	ENSG00000113658		0.323	SMAD5-001	KNOWN	basic	processed_transcript	SMAD5	HGNC	protein_coding	OTTHUMT00000372096.2		0.00	51	0	A	NM_005903		135515157	+1	tier1		no_errors	ENST00000514641	ensembl	human	known	74_37	rna	8.51	43	4	DEL	0.000	-
SMARCD2	6603	genome.wustl.edu	37	17	61911039	61911039	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:61911039C>T	ENST00000448276.2	-	10	1490	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	SMARCD2_ENST00000323347.10_Missense_Mutation_p.D361N|SMARCD2_ENST00000225742.9_Missense_Mutation_p.D334N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	409					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						ACCTCCACATCGATGTCGTAA	0.567																																																	0													95.0	97.0	96.0					17																	61911039		2134	4239	6373	SO:0001583	missense	0			U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1225G>A	17.37:g.61911039C>T	ENSP00000392617:p.Asp409Asn		A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.D409N	ENST00000448276.2	37	c.1225	CCDS45756.1	17	.	.	.	.	.	.	.	.	.	.	.	12.47	1.948820	0.34377	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.47528	0.84;0.86	5.44	5.44	0.79542	.	0.043026	0.85682	D	0.000000	T	0.63070	0.2480	M	0.84433	2.695	0.80722	D	1	D;P;P	0.60160	0.987;0.95;0.95	P;P;P	0.50162	0.633;0.599;0.599	T	0.68876	-0.5293	10	0.54805	T	0.06	-0.8301	16.8112	0.85720	0.0:1.0:0.0:0.0	.	361;372;409	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	N	409;351;372;361	ENSP00000392617:D409N;ENSP00000318451:D361N	ENSP00000225742:D351N	D	-	1	0	SMARCD2	59264771	1.000000	0.71417	0.870000	0.34147	0.086000	0.17979	7.651000	0.83577	2.837000	0.97791	0.655000	0.94253	GAT	SMARCD2	-	NULL	ENSG00000108604		0.567	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD2	HGNC	protein_coding	OTTHUMT00000444544.1	-	0.00	47	0	C	NM_001098426		61911039	-1	tier1	-	no_errors	ENST00000448276	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	T
SMARCD3	6604	genome.wustl.edu	37	7	150936201	150936201	+	Silent	SNP	C	C	T	rs200505047		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:150936201C>T	ENST00000262188.8	-	13	1850	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V	SMARCD3_ENST00000392811.2_Silent_p.V467V|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000477169.1_5'Flank|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000356800.2_Silent_p.V467V	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	480					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTGTTGCGCACAACCAGCG	0.577																																																	0													129.0	125.0	126.0					7																	150936201		2203	4300	6503	SO:0001819	synonymous_variant	0			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1440G>A	7.37:g.150936201C>T			D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.V480	ENST00000262188.8	37	c.1440	CCDS34780.1	7																																																																																			SMARCD3	-	NULL	ENSG00000082014		0.577	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD3	HGNC	protein_coding	OTTHUMT00000348825.1	-	0.00	52	0	C	NM_001003801		150936201	-1	tier1	-	no_errors	ENST00000262188	ensembl	human	known	74_37	silent	18.18	27	6	SNP	1.000	T
SMC4	10051	genome.wustl.edu	37	3	160134136	160134136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:160134136delA	ENST00000357388.3	+	10	1821	c.1370delA	c.(1369-1371)gaafs	p.E457fs	SMC4_ENST00000360111.2_Frame_Shift_Del_p.E457fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.E457fs|SMC4_ENST00000469762.1_Frame_Shift_Del_p.E432fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Frame_Shift_Del_p.E457fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	457					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAGAAAGAAGAAAAAAAATTA	0.308																																																	0													53.0	62.0	59.0					3																	160134136		2202	4290	6492	SO:0001589	frameshift_variant	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1370delA	3.37:g.160134136delA	ENSP00000349961:p.Glu457fs		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Frame_Shift_Del	DEL	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.K459fs	ENST00000357388.3	37	c.1370	CCDS3189.1	3																																																																																			SMC4	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000113810		0.308	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1		0.00	37	0	A			160134136	+1	tier1		no_errors	ENST00000344722	ensembl	human	known	74_37	frame_shift_del	16.67	20	4	DEL	1.000	-
SMC6	79677	genome.wustl.edu	37	2	17898356	17898356	+	Splice_Site	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:17898356delT	ENST00000448223.2	-	13	1449	c.1180delA	c.(1180-1182)agt>gt	p.S394fs	SMC6_ENST00000351948.4_Splice_Site_p.S394fs|SMC6_ENST00000381272.4_Splice_Site_p.S420fs|SMC6_ENST00000402989.1_Splice_Site_p.S394fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	394					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTACCCTACCTTTTTTTCAGC	0.294																																																	0													103.0	101.0	102.0					2																	17898356		2202	4295	6497	SO:0001630	splice_region_variant	0			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1181+1A>-	2.37:g.17898356delT			A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase	p.S420fs	ENST00000448223.2	37	c.1258	CCDS1690.1	2																																																																																			SMC6	-	superfamily_P-loop_NTPase	ENSG00000163029		0.294	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1		0.00	52	0	T	NM_024624	Frame_Shift_Del	17898356	-1	tier1		no_errors	ENST00000381272	ensembl	human	known	74_37	frame_shift_del	13.21	46	7	DEL	0.998	-
SMCO2	341346	genome.wustl.edu	37	12	27628630	27628630	+	Frame_Shift_Del	DEL	A	A	-	rs545209953		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:27628630delA	ENST00000535986.1	+	4	478	c.478delA	c.(478-480)aaafs	p.K161fs	SMCO2_ENST00000416383.1_Frame_Shift_Del_p.K161fs|SMCO2_ENST00000538647.1_3'UTR|SMCO2_ENST00000298876.4_Intron			A6NFE2	SMCO2_HUMAN	single-pass membrane protein with coiled-coil domains 2	161						integral component of membrane (GO:0016021)											Caatattattaaaaaaataaa	0.343																																																	0													29.0	26.0	27.0					12																	27628630		692	1590	2282	SO:0001589	frameshift_variant	0				CCDS44852.1	12p11.23	2013-03-11	2013-03-11	2013-03-11	ENSG00000165935	ENSG00000165935			34448	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 70"""	C12orf70			Standard	NM_001145010		Approved	LOC341346	uc010sjq.2	A6NFE2	OTTHUMG00000169205	ENST00000535986.1:c.478delA	12.37:g.27628630delA	ENSP00000441688:p.Lys161fs			Frame_Shift_Del	DEL	NULL	p.I162fs	ENST00000535986.1	37	c.478	CCDS44852.1	12																																																																																			SMCO2	-	NULL	ENSG00000165935		0.343	SMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCO2	HGNC	protein_coding	OTTHUMT00000402867.1		0.00	60	0	A	NM_001145010		27628630	+1	tier1		no_errors	ENST00000416383	ensembl	human	known	74_37	frame_shift_del	10.29	61	7	DEL	0.000	-
SMG6	23293	genome.wustl.edu	37	17	1964760	1964760	+	3'UTR	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:1964760delG	ENST00000263073.6	-	0	4336				SMG6_ENST00000354901.4_3'UTR|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000544865.1_3'UTR|SMG6_ENST00000536871.2_3'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACGGTTCCACGGGGGGGGGGC	0.627																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0									,	1989,117,177,284,1597		414,47,51,167,896,10,2,10,38,20,2,82,25,55,263	11.0	9.0	9.0		,	1.2	0.5	17	dbSNP_130	9	3815,2,330,738,3207		791,2,119,421,1691,0,0,0,0,12,8,179,64,181,578	no	utr-3,utr-3	SMG6	NM_017575.4,NM_001170957.1	,	1205,49,170,588,2587,10,2,10,38,32,10,261,89,236,841	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		52.8547,52.2334,52.6436	,	,	1964760	5804,119,507,1022,4804	2166	4251	6417	SO:0001624	3_prime_UTR_variant	0			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.*26C>-	17.37:g.1964760delG			B7Z874|O94837|Q86VH6|Q9UF60	RNA	DEL	-	NULL	ENST00000263073.6	37	NULL	CCDS11016.1	17																																																																																			SMG6	-	-	ENSG00000070366		0.627	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3		0.00	35	0	G			1964760	-1	tier1		no_errors	ENST00000570756	ensembl	human	known	74_37	rna	12.77	41	6	DEL	0.027	-
SMG6	23293	genome.wustl.edu	37	17	1964769	1964770	+	3'UTR	DEL	GC	GC	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:1964769_1964770delGC	ENST00000263073.6	-	0	4326_4327				SMG6_ENST00000354901.4_3'UTR|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000544865.1_3'UTR|SMG6_ENST00000536871.2_3'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGGGGGGGGGCCCCAGTGTGG	0.639																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0																																										SO:0001624	3_prime_UTR_variant	0			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.*17GC>-	17.37:g.1964769_1964770delGC			B7Z874|O94837|Q86VH6|Q9UF60	RNA	DEL	-	NULL	ENST00000263073.6	37	NULL	CCDS11016.1	17																																																																																			SMG6	-	-	ENSG00000070366		0.639	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3		0.00	35	0	GC			1964770	-1	tier1		no_errors	ENST00000570756	ensembl	human	known	74_37	rna	29.73	26	11	DEL	0.044:0.088	-
SMG6	23293	genome.wustl.edu	37	17	2202942	2202942	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:2202942C>T	ENST00000263073.6	-	2	1155	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	SMG6_ENST00000544865.1_Missense_Mutation_p.A338T	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	369	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATCCCTGGCTGACCTCACC	0.498																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													82.0	71.0	75.0					17																	2202942		2203	4300	6503	SO:0001583	missense	0			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1105G>A	17.37:g.2202942C>T	ENSP00000263073:p.Ala369Thr		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PIN_dom	p.A369T	ENST00000263073.6	37	c.1105	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	0.424	-0.906730	0.02434	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.08193	3.12;3.12	4.82	-2.47	0.06442	.	0.822162	0.10227	N	0.700152	T	0.03305	0.0096	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	10	0.08837	T	0.75	-0.3762	3.3231	0.07057	0.3111:0.2453:0.0:0.4436	.	369	Q86US8	EST1A_HUMAN	T	369;338	ENSP00000263073:A369T;ENSP00000443920:A338T	ENSP00000263073:A369T	A	-	1	0	SMG6	2149692	0.000000	0.05858	0.022000	0.16811	0.009000	0.06853	-0.580000	0.05827	-0.241000	0.09681	-0.727000	0.03589	GCC	SMG6	-	NULL	ENSG00000070366		0.498	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	-	0.00	67	0	C			2202942	-1	tier1	-	no_errors	ENST00000263073	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.001	T
SMUG1	23583	genome.wustl.edu	37	12	54576259	54576259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:54576259delA	ENST00000508394.2	-	3	496	c.434delT	c.(433-435)ttcfs	p.F145fs	SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000401977.2_Frame_Shift_Del_p.F145fs|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Frame_Shift_Del_p.F145fs|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000514685.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	145				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						GAGGTTCCGGAAAAAGCCCCA	0.572								Base excision repair (BER), DNA glycosylases																																									0													81.0	81.0	81.0					12																	54576259		2203	4300	6503	SO:0001589	frameshift_variant	0			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.434delT	12.37:g.54576259delA	ENSP00000424191:p.Phe145fs		A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Frame_Shift_Del	DEL	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like	p.F145fs	ENST00000508394.2	37	c.434	CCDS8874.1	12																																																																																			SMUG1	-	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like	ENSG00000123415		0.572	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMUG1	HGNC	protein_coding	OTTHUMT00000359074.3		0.00	33	0	A	NM_014311		54576259	-1	tier1		no_errors	ENST00000337581	ensembl	human	known	74_37	frame_shift_del	11.11	32	4	DEL	1.000	-
SNAP25	6616	genome.wustl.edu	37	20	10287898	10287898	+	3'UTR	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:10287898A>G	ENST00000254976.2	+	0	1885				SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GATGTTTAGTAGCTGATAAAG	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.*1053A>G	20.37:g.10287898A>G			B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	RNA	SNP	-	NULL	ENST00000254976.2	37	NULL	CCDS13110.1	20																																																																																			SNAP25	-	-	ENSG00000132639		0.303	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3	-	0.00	36	0	A	NM_130811		10287898	+1	tier1	-	no_errors	ENST00000495883	ensembl	human	known	74_37	rna	23.91	35	11	SNP	1.000	G
SNAPC1	6617	genome.wustl.edu	37	14	62242910	62242911	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:62242910_62242911insT	ENST00000216294.4	+	5	736_737	c.632_633insT	c.(631-636)gattttfs	p.DF211fs	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	211	SNAPC4-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.D214fs*1(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATAAAGGATGATTTTTTTGACA	0.356																																					NSCLC(27;223 907 37180 39193 46568)												2	Insertion - Frameshift(2)	large_intestine(1)|ovary(1)																																								SO:0001589	frameshift_variant	0			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.639dupT	14.37:g.62242917_62242917dupT	ENSP00000216294:p.Asp211fs			Frame_Shift_Ins	INS	pfam_SNAPc_SNAP43	p.D214fs	ENST00000216294.4	37	c.632_633	CCDS9755.1	14																																																																																			SNAPC1	-	NULL	ENSG00000023608		0.356	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC1	HGNC	protein_coding	OTTHUMT00000276976.2		0.00	54	0	-	NM_003082		62242911	+1	tier1		no_errors	ENST00000216294	ensembl	human	known	74_37	frame_shift_ins	9.23	59	6	INS	1.000:0.961	T
SNHG14	104472715	genome.wustl.edu	37	15	25456847	25456847	+	RNA	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:25456847G>T	ENST00000424208.1	+	0	2478				SNHG14_ENST00000450809.1_RNA|SNORD115-24_ENST00000363528.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGAAGCTCAGGCCCTTCCTG	0.622																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25456847G>T				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.622	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	-	0.00	46	0	G			25456847	+1	tier1	-	no_errors	ENST00000424208	ensembl	human	known	74_37	rna	16.67	25	5	SNP	0.000	T
MCMDC2	157777	genome.wustl.edu	37	8	67834877	67834877	+	IGR	DEL	T	T	-	rs552090110		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:67834877delT	ENST00000422365.2	+	0	5096				SNHG6_ENST00000364849.1_RNA|SNORD87_ENST00000522478.1_RNA	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2						DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						ATCCTAGTAGTTTTTTCACAA	0.338																																																	0																																										SO:0001628	intergenic_variant	0			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068		8.37:g.67834877delT			B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	RNA	DEL	-	NULL	ENST00000422365.2	37	NULL	CCDS6197.2	8																																																																																			SNHG6	-	-	ENSG00000245910		0.338	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNHG6	HGNC	protein_coding	OTTHUMT00000347350.1		0.00	8	0	T	NM_173518		67834877	-1	tier1		no_errors	ENST00000520348	ensembl	human	known	74_37	rna	23.08	10	3	DEL	0.001	-
RPL30	6156	genome.wustl.edu	37	8	99054837	99054837	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:99054837delA	ENST00000521291.1	-	3	445				SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000523172.1_Intron|RPL30_ENST00000518164.1_Intron|KB-1208A12.3_ENST00000501016.2_RNA|RPL30_ENST00000287038.3_Intron|RPL30_ENST00000396070.2_Intron			P62888	RL30_HUMAN	ribosomal protein L30						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			TTAGAAAGGCAAAAAAAAAAA	0.358																																																	0													33.0	34.0	34.0					8																	99054837		2203	4293	6496	SO:0001627	intron_variant	0				CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"""L ribosomal proteins"""	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.298+35T>-	8.37:g.99054837delA			B2R591|P04645|Q502Z6	RNA	DEL	-	NULL	ENST00000521291.1	37	NULL	CCDS34928.1	8																																																																																			KB-1208A12.3	-	-	ENSG00000245970		0.358	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNORA72	Clone_based_vega_gene	protein_coding	OTTHUMT00000380450.1		0.00	52	0	A			99054837	+1	tier1		no_errors	ENST00000501016	ensembl	human	known	74_37	rna	13.41	71	11	DEL	0.049	-
NOP56	10528	genome.wustl.edu	37	20	2637628	2637629	+	Intron	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:2637628_2637629insA	ENST00000329276.5	+	10	1797				SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORA51_ENST00000606420.1_RNA|NOP56_ENST00000492135.1_Intron|SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein						cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AGAATGGAGGCAAAAAAACTGA	0.475																																																	0																																										SO:0001627	intron_variant	0			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1281+87->A	20.37:g.2637635_2637635dupA			Q2M3T6|Q9NQ05	RNA	INS	-	NULL	ENST00000329276.5	37	NULL	CCDS13030.1	20																																																																																			SNORD57	-	-	ENSG00000226572		0.475	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD57	HGNC	protein_coding	OTTHUMT00000077631.2		0.00	50	0	-	NM_006392		2637629	+1	tier1		no_errors	ENST00000448188	ensembl	human	known	74_37	rna	15.56	38	7	INS	1.000:0.987	A
SNPH	9751	genome.wustl.edu	37	20	1277890	1277890	+	Missense_Mutation	SNP	C	C	A	rs146181445	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:1277890C>A	ENST00000381873.3	+	4	388	c.152C>A	c.(151-153)aCg>aAg	p.T51K	SNPH_ENST00000381867.1_Missense_Mutation_p.T95K	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	51					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCAGTCCCACGCCAAGGTAA	0.627																																																	0													48.0	35.0	40.0					20																	1277890		2203	4300	6503	SO:0001583	missense	0				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.152C>A	20.37:g.1277890C>A	ENSP00000371297:p.Thr51Lys		Q8IYI3	Missense_Mutation	SNP	NULL	p.T95K	ENST00000381873.3	37	c.284	CCDS13012.1	20	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740967	0.89573	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	5.03	5.03	0.67393	.	0.214952	0.37437	N	0.002097	T	0.68311	0.2987	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70857	-0.4758	9	0.62326	D	0.03	-15.5529	18.5593	0.91095	0.0:1.0:0.0:0.0	.	95;51	O15079-2;O15079	.;SNPH_HUMAN	K	51;95	.	ENSP00000371291:T95K	T	+	2	0	SNPH	1225890	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	5.077000	0.64419	2.608000	0.88229	0.655000	0.94253	ACG	SNPH	-	NULL	ENSG00000101298		0.627	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNPH	HGNC	protein_coding	OTTHUMT00000145240.2		0.00	37	0	C	NM_014723		1277890	+1			no_errors	ENST00000381867	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A
SNRNP27	11017	genome.wustl.edu	37	2	70122235	70122235	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:70122235G>A	ENST00000244227.3	+	2	469	c.44G>A	c.(43-45)cGt>cAt	p.R15H	SNRNP27_ENST00000409116.1_Missense_Mutation_p.R15H	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	15	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GAACGTAGGCGTTCCCGGTCC	0.532																																																	0													111.0	124.0	119.0					2																	70122235		2203	4300	6503	SO:0001583	missense	0			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.44G>A	2.37:g.70122235G>A	ENSP00000244227:p.Arg15His		Q15410	Missense_Mutation	SNP	pfam_DUF1777	p.R15H	ENST00000244227.3	37	c.44	CCDS33219.1	2	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709302	0.68615	.	.	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.42900	0.96;0.96	4.22	4.22	0.49857	Domain of unknown function DUF1777 (1);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.954	T	0.54636	-0.8264	10	0.35671	T	0.21	.	14.454	0.67404	0.0:0.0:1.0:0.0	.	15;15	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	H	15	ENSP00000244227:R15H;ENSP00000386608:R15H	ENSP00000244227:R15H	R	+	2	0	SNRNP27	69975739	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.287000	0.78681	2.335000	0.79485	0.462000	0.41574	CGT	SNRNP27	-	pfam_DUF1777	ENSG00000124380		0.532	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP27	HGNC	protein_coding	OTTHUMT00000327369.1	-	0.00	53	0	G	NM_006857		70122235	+1	tier1	-	no_errors	ENST00000244227	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	A
SNRNP40	9410	genome.wustl.edu	37	1	31732678	31732679	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:31732678_31732679delAA	ENST00000263694.4	-	0	1332_1333				SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000373720.3_3'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						aaagaaaaagaaaaaaaaaaaC	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.*241TT>-	1.37:g.31732686_31732687delAA			B4DQJ1|O75938|O95320	RNA	DEL	-	NULL	ENST00000263694.4	37	NULL	CCDS340.1	1																																																																																			SNRNP40	-	-	ENSG00000060688		0.371	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1		0.00	40	0	AA	NM_004814		31732679	-1	tier1		no_errors	ENST00000486941	ensembl	human	known	74_37	rna	25.64	29	10	DEL	0.040:0.034	-
SNRPN	6638	genome.wustl.edu	37	15	25221489	25221489	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:25221489C>T	ENST00000400100.1	+	9	1083	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	SNRPN_ENST00000346403.6_Missense_Mutation_p.R65W|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.R65W|SNRPN_ENST00000400098.1_Missense_Mutation_p.R65W|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000390687.4_Missense_Mutation_p.R65W|SNRPN_ENST00000554227.2_Missense_Mutation_p.R69W|SNRPN_ENST00000444203.2_Missense_Mutation_p.R69W|SNRPN_ENST00000577565.1_Missense_Mutation_p.R65W	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	65					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGAAGAAAAGCGGGTTTTGGG	0.448									Prader-Willi syndrome																																								0													93.0	98.0	97.0					15																	25221489		1905	4121	6026	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.193C>T	15.37:g.25221489C>T	ENSP00000382972:p.Arg65Trp		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.R69W	ENST00000400100.1	37	c.205	CCDS10017.1	15	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692071	0.68271	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	4.21	2.34	0.29019	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.059779	0.64402	D	0.000007	T	0.76557	0.4004	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74077	-0.3781	10	0.87932	D	0	-3.43	3.7429	0.08537	0.1931:0.6045:0.0:0.2024	.	69;65	B3KVR1;P63162	.;RSMN_HUMAN	W	65;65;65;69;65;69	ENSP00000382972:R65W;ENSP00000382970:R65W;ENSP00000382969:R65W;ENSP00000452342:R69W;ENSP00000375105:R65W;ENSP00000408767:R69W	ENSP00000375105:R65W	R	+	1	2	SNRPN	22772582	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.881000	0.28173	0.739000	0.32628	0.591000	0.81541	CGG	SNRPN	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	ENSG00000128739		0.448	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRPN	HGNC	protein_coding	OTTHUMT00000413849.10	-	0.00	59	0	C	NM_003097		25221489	+1	tier1	-	no_errors	ENST00000444203	ensembl	human	known	74_37	missense	11.32	47	6	SNP	1.000	T
SNTG2	54221	genome.wustl.edu	37	2	1312285	1312285	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:1312285G>A	ENST00000308624.5	+	15	1433	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N	SNTG2_ENST00000407292.1_Missense_Mutation_p.S308N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	435					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TACATGTGCAGCTGGCAAGGA	0.408																																																	0													225.0	184.0	196.0					2																	1312285		692	1591	2283	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1304G>A	2.37:g.1312285G>A	ENSP00000311837:p.Ser435Asn		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S435N	ENST00000308624.5	37	c.1304	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185684	0.38609	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.71934	-0.61;-0.61	4.9	4.0	0.46444	.	0.089346	0.85682	D	0.000000	T	0.78489	0.4291	M	0.62723	1.935	0.47407	D	0.999416	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.994	T	0.75468	-0.3307	10	0.34782	T	0.22	.	8.4325	0.32766	0.0827:0.1567:0.7606:0.0	.	308;435	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	N	435;308	ENSP00000311837:S435N;ENSP00000385020:S308N	ENSP00000311837:S435N	S	+	2	0	SNTG2	1291292	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	5.733000	0.68571	0.994000	0.38892	0.655000	0.94253	AGC	SNTG2	-	NULL	ENSG00000172554		0.408	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0.00	53	0	G	NM_018968		1312285	+1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	A
SNUPN	10073	genome.wustl.edu	37	15	75902272	75902272	+	Missense_Mutation	SNP	C	C	T	rs377184433		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:75902272C>T	ENST00000564644.1	-	5	945	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	SNUPN_ENST00000308588.5_Missense_Mutation_p.V123M|SNUPN_ENST00000567134.1_Missense_Mutation_p.V123M|SNUPN_ENST00000564675.1_Missense_Mutation_p.V123M|SNUPN_ENST00000371091.5_Missense_Mutation_p.V165M			O95149	SPN1_HUMAN	snurportin 1	123	Necessary for interaction with XPO1.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)	p.V123M(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						ACAGGGCACACGACCACAATC	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)							MET/VAL,MET/VAL,MET/VAL	1,4393		0,1,2196	94.0	78.0	83.0		367,367,367	4.6	1.0	15		83	0,8588		0,0,4294	no	missense,missense,missense	SNUPN	NM_001042581.1,NM_001042588.1,NM_005701.3	21,21,21	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	benign,benign,benign	123/361,123/361,123/361	75902272	1,12981	2197	4294	6491	SO:0001583	missense	0			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.367G>A	15.37:g.75902272C>T	ENSP00000454852:p.Val123Met		A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB	p.V165M	ENST00000564644.1	37	c.493	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	N	21.8	4.195745	0.78902	2.28E-4	0.0	ENSG00000169371	ENST00000308588;ENST00000371091	T;T	0.63255	-0.03;-0.03	5.51	4.56	0.56223	.	0.116409	0.56097	D	0.000021	T	0.64692	0.2621	L	0.49126	1.545	0.58432	D	0.999998	D;D	0.64830	0.963;0.994	B;P	0.50352	0.159;0.638	T	0.66056	-0.6018	10	0.45353	T	0.12	-14.5938	15.2446	0.73497	0.0:0.8596:0.1404:0.0	.	165;123	C9K0X5;O95149	.;SPN1_HUMAN	M	123;165	ENSP00000309831:V123M;ENSP00000360132:V165M	ENSP00000309831:V123M	V	-	1	0	SNUPN	73689327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.741000	0.55090	2.622000	0.88805	0.531000	0.56144	GTG	SNUPN	-	pirsf_Snurportin-1	ENSG00000169371		0.498	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1	-	0.00	50	0	C	NM_005701		75902272	-1	tier1	-	no_errors	ENST00000371091	ensembl	human	known	74_37	missense	40.00	24	16	SNP	1.000	T
SNX20	124460	genome.wustl.edu	37	16	50707923	50707923	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:50707923C>T	ENST00000330943.4	-	4	516	c.345G>A	c.(343-345)cgG>cgA	p.R115R	SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	115	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CGGAATAGCGCCGTTCCAGGA	0.572																																																	0													70.0	65.0	67.0					16																	50707923		2198	4300	6498	SO:0001819	synonymous_variant	0			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.345G>A	16.37:g.50707923C>T			A8K9D5|Q08E98|Q6P4H2|Q8IV59	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R115	ENST00000330943.4	37	c.345	CCDS10745.1	16																																																																																			SNX20	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000167208		0.572	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	-	0.00	24	0	C	NM_153337		50707923	-1	tier1	-	no_errors	ENST00000330943	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.937	T
ACOT8	10005	genome.wustl.edu	37	20	44470649	44470651	+	Intron	DEL	TTT	TTT	-	rs370136124		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:44470649_44470651delTTT	ENST00000217455.4	-	6	932				SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8						acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CCAAATACACttttttttttttt	0.567																																																	0																																										SO:0001627	intron_variant	0			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.842-54AAA>-	20.37:g.44470658_44470660delTTT			O15261|Q17RX4	RNA	DEL	-	NULL	ENST00000217455.4	37	NULL	CCDS13378.1	20																																																																																			SNX21	-	-	ENSG00000124104		0.567	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX21	HGNC	protein_coding	OTTHUMT00000080338.2		0.00	65	0	TTT	NM_183386		44470651	+1	tier1		no_errors	ENST00000344780	ensembl	human	known	74_37	rna	19.35	50	12	DEL	0.017:0.013:0.007	-
SOD1	6647	genome.wustl.edu	37	21	33040846	33040846	+	Silent	SNP	C	C	T	rs1804449		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:33040846C>T	ENST00000270142.6	+	5	568	c.420C>T	c.(418-420)aaC>aaT	p.N140N	SOD1_ENST00000470944.1_3'UTR|AP000254.8_ENST00000609934.1_RNA|SOD1_ENST00000389995.4_Silent_p.N121N	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	140			N -> K (in ALS1).		activation of MAPK activity (GO:0000187)|anterograde axon cargo transport (GO:0008089)|auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryo implantation (GO:0007566)|glutathione metabolic process (GO:0006749)|heart contraction (GO:0060047)|hydrogen peroxide biosynthetic process (GO:0050665)|locomotory behavior (GO:0007626)|muscle cell cellular homeostasis (GO:0046716)|myeloid cell homeostasis (GO:0002262)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament cytoskeleton organization (GO:0060052)|ovarian follicle development (GO:0001541)|peripheral nervous system myelin maintenance (GO:0032287)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cytokine production (GO:0001819)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of superoxide anion generation (GO:0032930)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of multicellular organism growth (GO:0040014)|regulation of organ growth (GO:0046620)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of T cell differentiation in thymus (GO:0033081)|relaxation of vascular smooth muscle (GO:0060087)|removal of superoxide radicals (GO:0019430)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to hydrogen peroxide (GO:0042542)|response to nutrient levels (GO:0031667)|response to organic substance (GO:0010033)|response to superoxide (GO:0000303)|retina homeostasis (GO:0001895)|retrograde axon cargo transport (GO:0008090)|sensory perception of sound (GO:0007605)|spermatogenesis (GO:0007283)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|thymus development (GO:0048538)|transmission of nerve impulse (GO:0019226)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|peroxisome (GO:0005777)|protein complex (GO:0043234)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein phosphatase 2B binding (GO:0030346)|Rac GTPase binding (GO:0048365)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(1)	4					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	AGACAGGAAACGCTGGAAGTC	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		16469	0.0		0.0	False		,,,				2504	0.001																0			GRCh37	CM951186	SOD1	M	rs1804449						136.0	137.0	137.0					21																	33040846		2203	4300	6503	SO:0001819	synonymous_variant	0			AY049787, X02317	CCDS33536.1	21q22.11	2014-09-17	2008-07-31		ENSG00000142168	ENSG00000142168	1.15.1.1		11179	protein-coding gene	gene with protein product		147450	"""amyotrophic lateral sclerosis 1 (adult)"""	ALS, ALS1		8446170	Standard	NM_000454		Approved	IPOA	uc002ypa.3	P00441	OTTHUMG00000084878	ENST00000270142.6:c.420C>T	21.37:g.33040846C>T			A6NHJ0|D3DSE4|Q16669|Q16711|Q16838|Q16839|Q16840|Q6NR85	Silent	SNP	pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom	p.N140	ENST00000270142.6	37	c.420	CCDS33536.1	21																																																																																			SOD1	-	pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom	ENSG00000142168		0.423	SOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOD1	HGNC	protein_coding	OTTHUMT00000192585.2	-	0.00	35	0	C	NM_000454		33040846	+1	tier1	rs1804449	no_errors	ENST00000270142	ensembl	human	known	74_37	silent	25.93	20	7	SNP	0.997	T
SOD2	6648	genome.wustl.edu	37	6	160113437	160113437	+	3'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:160113437C>T	ENST00000452684.2	-	0	558				SOD2_ENST00000538183.2_Intron|SOD2_ENST00000367054.2_Intron|SOD2_ENST00000367055.4_Intron|SOD2_ENST00000546087.1_Intron|SOD2_ENST00000444946.2_Intron|SOD2_ENST00000337404.4_Intron			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial						age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		ATGTGGCTCACAACAGTAAGG	0.458																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M36693	CCDS5265.1, CCDS34564.1	6q25	2008-02-05			ENSG00000112096	ENSG00000112096	1.15.1.1		11180	protein-coding gene	gene with protein product		147460					Standard	NM_000636		Approved		uc003qsg.3	P04179	OTTHUMG00000015940	ENST00000452684.2:c.*59G>A	6.37:g.160113437C>T			B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	Splice_Site	SNP	-	NULL	ENST00000452684.2	37	c.NULL		6																																																																																			SOD2	-	-	ENSG00000112096		0.458	SOD2-003	PUTATIVE	basic	protein_coding	SOD2	HGNC	protein_coding	OTTHUMT00000042923.2	-	0.00	38	0	C	NM_000636		160113437	-1	tier1	-	no_errors	ENST00000540491	ensembl	human	known	74_37	splice_site	29.03	22	9	SNP	0.000	T
SOGA1	140710	genome.wustl.edu	37	20	35414897	35414897	+	Frame_Shift_Del	DEL	G	G	-	rs374486778		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:35414897delG	ENST00000357779.3	-	15	4589	c.4263delC	c.(4261-4263)cccfs	p.P1421fs	SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000237536.4_Frame_Shift_Del_p.P1659fs|SOGA1_ENST00000456801.2_Frame_Shift_Del_p.P1262fs			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1421					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTCACTCGCTGGGGGGGAGTG	0.667																																																	0													26.0	31.0	30.0					20																	35414897		692	1591	2283	SO:0001589	frameshift_variant	0			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.4263delC	20.37:g.35414897delG	ENSP00000350424:p.Pro1421fs		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Frame_Shift_Del	DEL	pfam_SOGA	p.S1660fs	ENST00000357779.3	37	c.4977		20																																																																																			SOGA1	-	NULL	ENSG00000149639		0.667	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding			0.00	63	0	G	NM_199181		35414897	-1	tier1		no_errors	ENST00000237536	ensembl	human	known	74_37	frame_shift_del	17.78	37	8	DEL	0.644	-
MTCL1	23255	genome.wustl.edu	37	18	8818982	8818982	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:8818982C>T	ENST00000306329.11	+	11	3838	c.3838C>T	c.(3838-3840)Cgg>Tgg	p.R1280W	SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000359865.3_Missense_Mutation_p.R961W|SOGA2_ENST00000400050.3_Missense_Mutation_p.R920W|SOGA2_ENST00000517570.1_Missense_Mutation_p.R920W|SOGA2_ENST00000306285.7_Intron														p.R961R(1)									GAACAGTCCCCGGAGAGGTGG	0.498																																																	1	Substitution - coding silent(1)	lung(1)																																								SO:0001583	missense	0																														ENST00000306329.11:c.3838C>T	18.37:g.8818982C>T	ENSP00000305027:p.Arg1280Trp			Missense_Mutation	SNP	pfam_SOGA	p.R961W	ENST00000306329.11	37	c.2881		18	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842989	0.71488	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.52057	0.68;0.68;0.68	5.96	5.08	0.68730	.	0.149838	0.31721	N	0.007172	T	0.54303	0.1850	L	0.55834	1.745	0.32014	N	0.601649	D	0.63046	0.992	P	0.55965	0.788	T	0.63972	-0.6516	10	0.62326	D	0.03	-22.9749	9.4836	0.38915	0.2422:0.6911:0.0:0.0667	.	961	Q9Y4B5-3	.	W	982;920;961;920	ENSP00000429556:R920W;ENSP00000352927:R961W;ENSP00000382924:R920W	ENSP00000305027:R982W	R	+	1	2	CCDC165	8808982	0.031000	0.19500	0.998000	0.56505	0.938000	0.57974	1.226000	0.32563	2.813000	0.96785	0.655000	0.94253	CGG	SOGA2	-	NULL	ENSG00000168502		0.498	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0.00	37	0	C			8818982	+1	tier1	rs149462341	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.453	T
MTCL1	23255	genome.wustl.edu	37	18	8825003	8825003	+	Silent	SNP	G	G	A	rs114022207		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:8825003G>A	ENST00000306329.11	+	13	4452	c.4452G>A	c.(4450-4452)acG>acA	p.T1484T	SOGA2_ENST00000518815.1_Silent_p.T490T|SOGA2_ENST00000359865.3_Silent_p.T1165T|SOGA2_ENST00000400050.3_Silent_p.T1124T|SOGA2_ENST00000517570.1_Silent_p.T1124T|SOGA2_ENST00000306285.7_Silent_p.T490T																							CCATGACCACGGACACCATGA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		17387	0.0		0.001	False		,,,				2504	0.0																0													73.0	50.0	57.0					18																	8825003		2202	4300	6502	SO:0001819	synonymous_variant	0																														ENST00000306329.11:c.4452G>A	18.37:g.8825003G>A				Silent	SNP	pfam_SOGA	p.T1165	ENST00000306329.11	37	c.3495		18																																																																																			SOGA2	-	NULL	ENSG00000168502		0.662	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0.00	50	0	G			8825003	+1	tier1	rs114022207	no_errors	ENST00000359865	ensembl	human	known	74_37	silent	24.56	43	14	SNP	0.616	A
SORBS1	10580	genome.wustl.edu	37	10	97174480	97174480	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:97174480G>A	ENST00000361941.3	-	7	607	c.581C>T	c.(580-582)gCg>gTg	p.A194V	SORBS1_ENST00000393949.1_Missense_Mutation_p.A185V|SORBS1_ENST00000371249.2_Missense_Mutation_p.A162V|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.A194V|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.A194V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000277982.5_Missense_Mutation_p.A194V|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.A194V|SORBS1_ENST00000354106.3_Missense_Mutation_p.A185V	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGAGGCAGTCGCTGGGATTGT	0.612																																																	0													58.0	62.0	61.0					10																	97174480		2203	4300	6503	SO:0001583	missense	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.581C>T	10.37:g.97174480G>A	ENSP00000355136:p.Ala194Val			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.A194V	ENST00000361941.3	37	c.581	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	G	7.197	0.592625	0.13875	.	.	ENSG00000095637	ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T	0.30714	1.52;3.17;1.52;3.45;3.0;3.17;3.45;3.0	5.68	2.68	0.31781	.	0.550508	0.15277	N	0.270937	T	0.15392	0.0371	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.34329	0.449;0.116;0.009;0.023;0.002;0.054	B;B;B;B;B;B	0.20384	0.029;0.011;0.003;0.002;0.001;0.011	T	0.07385	-1.0775	10	0.52906	T	0.07	-2.0452	5.2108	0.15316	0.169:0.0:0.5179:0.3131	.	392;162;194;162;194;194	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66;Q9BX66-2	.;.;.;.;SRBS1_HUMAN;.	V	162;194;194;194;185;194;194;185	ENSP00000360295:A162V;ENSP00000360293:A194V;ENSP00000360271:A194V;ENSP00000360292:A194V;ENSP00000377521:A185V;ENSP00000355136:A194V;ENSP00000277982:A194V;ENSP00000277984:A185V	ENSP00000277982:A194V	A	-	2	0	SORBS1	97164470	1.000000	0.71417	0.979000	0.43373	0.051000	0.14879	1.152000	0.31663	0.766000	0.33244	0.555000	0.69702	GCG	SORBS1	-	NULL	ENSG00000095637		0.612	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	-	0.00	57	0	G			97174480	-1	tier1	-	no_errors	ENST00000361941	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	A
SORBS2	8470	genome.wustl.edu	37	4	186544439	186544439	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:186544439delT	ENST00000284776.7	-	13	2641	c.2132delA	c.(2131-2133)aatfs	p.N711fs	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Frame_Shift_Del_p.N711fs|SORBS2_ENST00000418609.1_Frame_Shift_Del_p.N615fs|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Frame_Shift_Del_p.N811fs|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	711					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGGAGCCGAATTTTTTTTCCT	0.448																																					Esophageal Squamous(153;41 2433 9491 36028)												0													125.0	138.0	134.0					4																	186544439		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2132delA	4.37:g.186544439delT	ENSP00000284776:p.Asn711fs		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.N711fs	ENST00000284776.7	37	c.2132	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.448	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3		0.00	54	0	T	NM_003603		186544439	-1	tier1		no_errors	ENST00000284776	ensembl	human	known	74_37	frame_shift_del	10.64	42	5	DEL	0.203	-
SORBS2	8470	genome.wustl.edu	37	4	186545131	186545131	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:186545131G>A	ENST00000284776.7	-	13	1949	c.1440C>T	c.(1438-1440)taC>taT	p.Y480Y	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Silent_p.Y480Y|SORBS2_ENST00000418609.1_Silent_p.Y384Y|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Silent_p.Y580Y|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	480					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCTCGCTCTCGTACTGCAGAA	0.597																																					Esophageal Squamous(153;41 2433 9491 36028)												0													90.0	82.0	85.0					4																	186545131		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1440C>T	4.37:g.186545131G>A			A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.Y480	ENST00000284776.7	37	c.1440	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.597	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	-	0.00	38	0	G	NM_003603		186545131	-1	tier1	-	no_errors	ENST00000284776	ensembl	human	known	74_37	silent	15.15	28	5	SNP	0.364	A
SORCS1	114815	genome.wustl.edu	37	10	108923780	108923780	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:108923780C>T	ENST00000263054.6	-	1	512	c.505G>A	c.(505-507)Gga>Aga	p.G169R	SORCS1_ENST00000344440.6_Missense_Mutation_p.G169R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	169					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCTGAGTCTCCCGTCAGCGCA	0.612																																																	0													83.0	72.0	76.0					10																	108923780		2203	4300	6503	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.505G>A	10.37:g.108923780C>T	ENSP00000263054:p.Gly169Arg		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G169R	ENST00000263054.6	37	c.505	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057800	0.76074	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.34275	1.37;1.37	5.16	5.16	0.70880	.	0.089626	0.44483	D	0.000443	T	0.40886	0.1135	L	0.38175	1.15	0.48632	D	0.999681	P;P;P;P;P	0.51653	0.912;0.947;0.867;0.79;0.785	B;P;P;P;B	0.51135	0.329;0.65;0.66;0.459;0.408	T	0.06481	-1.0824	9	.	.	.	-5.6549	17.3761	0.87392	0.0:1.0:0.0:0.0	.	169;169;169;169;169	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	R	169	ENSP00000263054:G169R;ENSP00000345964:G169R	.	G	-	1	0	SORCS1	108913770	0.999000	0.42202	0.801000	0.32222	0.514000	0.34195	6.876000	0.75556	2.666000	0.90696	0.655000	0.94253	GGA	SORCS1	-	NULL	ENSG00000108018		0.612	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0.00	44	0	C	NM_052918		108923780	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	33.33	26	13	SNP	0.994	T
SORCS2	57537	genome.wustl.edu	37	4	7725564	7725564	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:7725564G>T	ENST00000507866.2	+	19	2674	c.2565G>T	c.(2563-2565)gaG>gaT	p.E855D	SORCS2_ENST00000329016.9_Missense_Mutation_p.E683D	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	855	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCAGGGCAGAGAACACGGCAG	0.587																																																	0													63.0	64.0	64.0					4																	7725564		2049	4188	6237	SO:0001583	missense	0			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2565G>T	4.37:g.7725564G>T	ENSP00000422185:p.Glu855Asp		Q9P2L7	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.E855D	ENST00000507866.2	37	c.2565	CCDS47008.1	4	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288673	0.23478	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.61510	0.1;0.1	2.82	1.93	0.25924	PKD/Chitinase domain (1);PKD domain (4);	0.196102	0.34088	U	0.004268	T	0.63896	0.2550	L	0.52126	1.63	0.45621	D	0.998559	D;D	0.61697	0.99;0.99	D;D	0.77004	0.989;0.989	T	0.59579	-0.7428	10	0.28530	T	0.3	.	8.2185	0.31528	0.2742:0.0:0.7258:0.0	.	683;855	B5MED8;Q96PQ0	.;SORC2_HUMAN	D	855;683	ENSP00000422185:E855D;ENSP00000329124:E683D	ENSP00000329124:E683D	E	+	3	2	SORCS2	7776464	1.000000	0.71417	0.988000	0.46212	0.105000	0.19272	3.885000	0.56182	1.420000	0.47138	0.467000	0.42956	GAG	SORCS2	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	ENSG00000184985		0.587	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	-	0.00	37	0	G	NM_020777		7725564	+1	tier1	-	no_errors	ENST00000507866	ensembl	human	known	74_37	missense	32.43	25	12	SNP	1.000	T
SORL1	6653	genome.wustl.edu	37	11	121489505	121489505	+	Missense_Mutation	SNP	C	C	T	rs149445303		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:121489505C>T	ENST00000260197.7	+	42	5756	c.5627C>T	c.(5626-5628)aCg>aTg	p.T1876M	SORL1_ENST00000532694.1_Missense_Mutation_p.T722M|SORL1_ENST00000534286.1_Missense_Mutation_p.T786M|SORL1_ENST00000527934.1_Missense_Mutation_p.T491M|SORL1_ENST00000525532.1_Missense_Mutation_p.T820M	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1876	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCTATGCCACGTCCTTTCTT	0.433																																																	0								C	MET/THR	1,4403	2.1+/-5.4	0,1,2201	246.0	210.0	222.0		5627	5.5	0.9	11	dbSNP_134	222	0,8598		0,0,4299	no	missense	SORL1	NM_003105.5	81	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1876/2215	121489505	1,13001	2202	4299	6501	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5627C>T	11.37:g.121489505C>T	ENSP00000260197:p.Thr1876Met		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T1876M	ENST00000260197.7	37	c.5627	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531041	0.85706	2.27E-4	0.0	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.53	5.53	0.82687	Fibronectin, type III (2);	0.231798	0.41823	D	0.000819	T	0.65176	0.2666	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.66846	-0.5820	10	0.62326	D	0.03	.	19.0609	0.93093	0.0:1.0:0.0:0.0	.	491;1876	E9PKB0;Q92673	.;SORL_HUMAN	M	1876;820;722;786;491	ENSP00000260197:T1876M;ENSP00000434634:T820M;ENSP00000432131:T722M;ENSP00000436447:T786M;ENSP00000435405:T491M	ENSP00000260197:T1876M	T	+	2	0	SORL1	120994715	1.000000	0.71417	0.931000	0.37212	0.840000	0.47671	6.820000	0.75267	2.599000	0.87857	0.655000	0.94253	ACG	SORL1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000137642		0.433	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	-	0.00	66	0	C	NM_003105		121489505	+1	tier1	rs149445303	no_errors	ENST00000260197	ensembl	human	known	74_37	missense	22.78	61	18	SNP	1.000	T
SOWAHD	347454	genome.wustl.edu	37	X	118893451	118893451	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:118893451C>T	ENST00000343905.3	+	1	876	c.821C>T	c.(820-822)gCg>gTg	p.A274V		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	274																	GCAGTGGGCGCGACGGCTGTG	0.662																																																	0													10.0	14.0	13.0					X																	118893451		2094	4101	6195	SO:0001583	missense	0				CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"""Ankyrin repeat domain containing"""	32960	protein-coding gene	gene with protein product			"""ankyrin repeat domain 58"""	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.821C>T	X.37:g.118893451C>T	ENSP00000340975:p.Ala274Val			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A274V	ENST00000343905.3	37	c.821	CCDS43984.1	X	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433085	0.25813	.	.	ENSG00000187808	ENST00000343905	T	0.13089	2.62	3.82	-1.17	0.09648	.	.	.	.	.	T	0.07052	0.0179	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40175	-0.9577	9	0.25751	T	0.34	-1.3674	4.6788	0.12725	0.0:0.4635:0.1581:0.3784	.	274	A6NJG2	ANR58_HUMAN	V	274	ENSP00000340975:A274V	ENSP00000340975:A274V	A	+	2	0	ANKRD58	118777479	0.000000	0.05858	0.000000	0.03702	0.643000	0.38383	-0.186000	0.09670	-0.275000	0.09219	0.436000	0.28706	GCG	SOWAHD	-	NULL	ENSG00000187808		0.662	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHD	HGNC	protein_coding	OTTHUMT00000356469.1	-	0.00	33	0	C	NM_001105576		118893451	+1	tier1	-	no_errors	ENST00000343905	ensembl	human	known	74_37	missense	35.71	9	5	SNP	0.000	T
SOX14	8403	genome.wustl.edu	37	3	137483819	137483819	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:137483819C>T	ENST00000306087.1	+	1	241	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	65					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CAAGCGGCTACGCGCCCAGCA	0.567																																																	0													139.0	138.0	139.0					3																	137483819		2203	4300	6503	SO:0001583	missense	0			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.193C>T	3.37:g.137483819C>T	ENSP00000305343:p.Arg65Cys		B2RAC0|Q3KPH7	Missense_Mutation	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R65C	ENST00000306087.1	37	c.193	CCDS3094.1	3	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384920	0.61956	.	.	ENSG00000168875	ENST00000306087	D	0.98329	-4.87	5.08	5.08	0.68730	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000001	D	0.99302	0.9756	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98581	1.0650	10	0.87932	D	0	.	13.2711	0.60161	0.1586:0.8414:0.0:0.0	.	65	O95416	SOX14_HUMAN	C	65	ENSP00000305343:R65C	ENSP00000305343:R65C	R	+	1	0	SOX14	138966509	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	2.226000	0.42963	2.653000	0.90120	0.511000	0.50034	CGC	SOX14	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000168875		0.567	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX14	HGNC	protein_coding	OTTHUMT00000357182.1	-	0.00	75	0	C	NM_004189		137483819	+1	tier1	-	no_errors	ENST00000306087	ensembl	human	known	74_37	missense	12.33	64	9	SNP	1.000	T
SOX17	64321	genome.wustl.edu	37	8	55370816	55370816	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:55370816G>A	ENST00000297316.4	+	1	322	c.118G>A	c.(118-120)Ggg>Agg	p.G40R		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	40					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GAGCCCCATCGGGGACATGAA	0.741																																																	0													6.0	9.0	8.0					8																	55370816		2116	4158	6274	SO:0001583	missense	0			AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.118G>A	8.37:g.55370816G>A	ENSP00000297316:p.Gly40Arg			Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G40R	ENST00000297316.4	37	c.118	CCDS6159.1	8	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741851	0.89573	.	.	ENSG00000164736	ENST00000297316	D	0.97232	-4.3	4.45	4.45	0.53987	.	0.130382	0.50627	D	0.000113	D	0.97288	0.9113	M	0.68952	2.095	0.45930	D	0.998764	D	0.76494	0.999	P	0.59643	0.861	D	0.96640	0.9473	10	0.51188	T	0.08	.	11.3886	0.49800	0.0:0.3022:0.6977:0.0	.	40	Q9H6I2	SOX17_HUMAN	R	40	ENSP00000297316:G40R	ENSP00000297316:G40R	G	+	1	0	SOX17	55533369	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.073000	0.57570	2.464000	0.83262	0.561000	0.74099	GGG	SOX17	-	NULL	ENSG00000164736		0.741	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX17	HGNC	protein_coding	OTTHUMT00000378526.2	-	0.00	14	0	G			55370816	+1	tier1	-	no_errors	ENST00000297316	ensembl	human	known	74_37	missense	41.18	10	7	SNP	1.000	A
SOX2	6657	genome.wustl.edu	37	3	181431011	181431011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:181431011delC	ENST00000325404.1	+	1	1290	c.863delC	c.(862-864)gccfs	p.A288fs	SOX2_ENST00000431565.2_Frame_Shift_Del_p.A288fs	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	288					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GAACCCGCCGCCCCCAGCAGA	0.682			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																																	Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	0													10.0	12.0	11.0					3																	181431011		2075	4119	6194	SO:0001589	frameshift_variant	0			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.863delC	3.37:g.181431011delC	ENSP00000323588:p.Ala288fs		Q14537	Frame_Shift_Del	DEL	pfam_TF_SOX,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S290fs	ENST00000325404.1	37	c.863	CCDS3239.1	3																																																																																			SOX2	-	NULL	ENSG00000181449		0.682	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX2	HGNC	protein_coding	OTTHUMT00000350419.1		0.00	37	0	C	NM_003106		181431011	+1	tier1		no_errors	ENST00000325404	ensembl	human	known	74_37	frame_shift_del	16.67	15	3	DEL	1.000	-
SP100	6672	genome.wustl.edu	37	2	231334496	231334496	+	Intron	DEL	A	A	-	rs372197214		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:231334496delA	ENST00000264052.5	+	15	1700				SP100_ENST00000427101.2_Intron|SP100_ENST00000409897.1_Intron|SP100_ENST00000340126.4_Intron|SP100_ENST00000409112.1_Intron|SP100_ENST00000409341.1_Intron|SP100_ENST00000341950.4_Frame_Shift_Del_p.L450fs|SP100_ENST00000409824.1_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen						cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCCCAAAGTTAAAAAAAAAAA	0.363																																																	0																																										SO:0001627	intron_variant	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1346-234A>-	2.37:g.231334496delA			B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Frame_Shift_Del	DEL	pfam_Sp100	p.K453fs	ENST00000264052.5	37	c.1350	CCDS2477.1	2																																																																																			SP100	-	NULL	ENSG00000067066		0.363	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2		0.00	23	0	A	NM_003113		231334496	+1	tier1		no_errors	ENST00000341950	ensembl	human	known	74_37	frame_shift_del	29.63	19	8	DEL	0.007	-
SP140	11262	genome.wustl.edu	37	2	231159025	231159025	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:231159025delA	ENST00000392045.3	+	21	2122	c.2008delA	c.(2008-2010)aaafs	p.K672fs	SP140_ENST00000350136.5_Frame_Shift_Del_p.K541fs|SP140_ENST00000486687.2_Frame_Shift_Del_p.K596fs|SP140_ENST00000420434.3_Frame_Shift_Del_p.K645fs|SP140_ENST00000343805.6_Frame_Shift_Del_p.K612fs|SP140_ENST00000417495.3_Frame_Shift_Del_p.K558fs	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	672					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K672fs*4(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACGTTACAGGAAAAAAAAGGT	0.373																																																	1	Deletion - Frameshift(1)	large_intestine(1)											114.0	112.0	113.0					2																	231159025		1845	4092	5937	SO:0001589	frameshift_variant	0			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2008delA	2.37:g.231159025delA	ENSP00000375899:p.Lys672fs		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Frame_Shift_Del	DEL	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.K672fs	ENST00000392045.3	37	c.2008	CCDS42831.1	2																																																																																			SP140	-	NULL	ENSG00000079263		0.373	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	HGNC	protein_coding	OTTHUMT00000332015.1		0.00	76	0	A	NM_007237		231159025	+1	tier1		no_errors	ENST00000392045	ensembl	human	known	74_37	frame_shift_del	25.33	56	19	DEL	0.001	-
SP8	221833	genome.wustl.edu	37	7	20824432	20824432	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:20824432delC	ENST00000361443.4	-	3	1187	c.950delG	c.(949-951)ggcfs	p.G317fs	SP8_ENST00000418710.2_Frame_Shift_Del_p.G335fs	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	317					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGGGAGCCCCCCAGCGG	0.766																																																	0													2.0	2.0	2.0					7																	20824432		1216	2693	3909	SO:0001589	frameshift_variant	0				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.950delG	7.37:g.20824432delC	ENSP00000354482:p.Gly317fs		Q7Z615|Q7Z616|Q96MJ1	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1	p.G335fs	ENST00000361443.4	37	c.1004	CCDS5372.1	7																																																																																			SP8	-	NULL	ENSG00000164651		0.766	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP8	HGNC	protein_coding	OTTHUMT00000326904.2		0.00	15	0	C			20824432	-1	tier1		no_errors	ENST00000418710	ensembl	human	known	74_37	frame_shift_del	21.05	15	4	DEL	1.000	-
SPAG16	79582	genome.wustl.edu	37	2	214160791	214160791	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:214160791T>A	ENST00000331683.5	+	2	235	c.140T>A	c.(139-141)gTc>gAc	p.V47D	SPAG16_ENST00000374309.3_5'Flank|SPAG16_ENST00000432529.2_Missense_Mutation_p.V47D|SPAG16_ENST00000272898.7_Missense_Mutation_p.V47D|SPAG16_ENST00000413312.1_Intron|SPAG16_ENST00000447990.1_Missense_Mutation_p.V47D|SPAG16_ENST00000414961.2_3'UTR	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	47					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TATTCAGAGGTCACCATAACT	0.274																																																	0													87.0	94.0	92.0					2																	214160791		2202	4291	6493	SO:0001583	missense	0			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.140T>A	2.37:g.214160791T>A	ENSP00000332592:p.Val47Asp		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V47D	ENST00000331683.5	37	c.140	CCDS2396.1	2	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637471	0.67130	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000272898;ENST00000447990	T	0.58210	0.35	5.27	5.27	0.74061	.	0.423293	0.20541	N	0.090317	T	0.67258	0.2874	L	0.58101	1.795	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.72075	0.905;0.976;0.976	T	0.69591	-0.5104	10	0.87932	D	0	.	11.8581	0.52451	0.0:0.0:0.0:1.0	.	47;47;47	Q8N0X2;E7EWV3;Q8N0X2-4	SPG16_HUMAN;.;.	D	47	ENSP00000332592:V47D	ENSP00000272898:V47D	V	+	2	0	SPAG16	213869036	1.000000	0.71417	0.782000	0.31804	0.945000	0.59286	4.485000	0.60279	2.099000	0.63709	0.477000	0.44152	GTC	SPAG16	-	NULL	ENSG00000144451		0.274	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	-	0.00	92	0	T	NM_024532		214160791	+1	tier1	-	no_errors	ENST00000331683	ensembl	human	known	74_37	missense	15.48	71	13	SNP	0.828	A
SPAG17	200162	genome.wustl.edu	37	1	118509241	118509241	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:118509241C>T	ENST00000336338.5	-	47	6588	c.6523G>A	c.(6523-6525)Gtg>Atg	p.V2175M		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2175						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTGCTTCCACAGGTAGGAAC	0.408																																																	0													140.0	134.0	136.0					1																	118509241		2203	4300	6503	SO:0001583	missense	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6523G>A	1.37:g.118509241C>T	ENSP00000337804:p.Val2175Met		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.V2175M	ENST00000336338.5	37	c.6523	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245771	0.80024	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.24723	1.84	5.5	5.5	0.81552	.	0.181068	0.34676	N	0.003773	T	0.41604	0.1166	M	0.67953	2.075	0.32771	N	0.503754	D	0.89917	1.0	D	0.91635	0.999	T	0.41698	-0.9494	10	0.87932	D	0	.	16.3053	0.82846	0.0:1.0:0.0:0.0	.	2175	Q6Q759	SPG17_HUMAN	M	2175;655	ENSP00000337804:V2175M	ENSP00000337804:V2175M	V	-	1	0	SPAG17	118310764	0.996000	0.38824	0.998000	0.56505	0.996000	0.88848	4.450000	0.60041	2.570000	0.86706	0.655000	0.94253	GTG	SPAG17	-	NULL	ENSG00000155761		0.408	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	-	0.00	53	0	C	NM_206996		118509241	-1	tier1	-	no_errors	ENST00000336338	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.999	T
SPATA31D5P	347127	genome.wustl.edu	37	9	84531279	84531279	+	RNA	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:84531279delA	ENST00000527857.1	+	0	1301					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GAGACAAGTCAAAAAAAGGAG	0.393																																																	0																																												0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531279delA				RNA	DEL	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			SPATA31D5P	-	-	ENSG00000240632		0.393	SPATA31D5P-002	KNOWN	basic	processed_transcript	SPATA31D5P	HGNC	pseudogene	OTTHUMT00000052810.2		0.00	48	0	A	NR_026851		84531279	+1	tier1		no_errors	ENST00000527857	ensembl	human	known	74_37	rna	14.52	53	9	DEL	0.002	-
RP11-383M4.6	0	genome.wustl.edu	37	9	84564459	84564459	+	lincRNA	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:84564459T>C	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							ACTGGGGAGTTCATAGAAGAG	0.463																																																	0																																												0																															9.37:g.84564459T>C				RNA	SNP	-	NULL	ENST00000585776.1	37	NULL		9																																																																																			SPATA31D3	-	-	ENSG00000186788		0.463	RP11-383M4.6-001	KNOWN	basic	lincRNA	SPATA31D3	HGNC	lincRNA	OTTHUMT00000453562.1		0.00	36	0	T			84564459	+1			no_errors	ENST00000334208	ensembl	human	known	74_37	rna	6.25	45	3	SNP	0.002	C
SPATA31C1	441452	genome.wustl.edu	37	9	90535546	90535546	+	RNA	SNP	C	C	T	rs560034208		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:90535546C>T	ENST00000602681.1	+	0	1450							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCTCCCCTGCGGGACTCCAC	0.592																																																	0													55.0	48.0	50.0					9																	90535546		692	1591	2283			0			AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535546C>T				RNA	SNP	-	NULL	ENST00000602681.1	37	NULL		9																																																																																			SPATA31C1	-	-	ENSG00000230246		0.592	SPATA31C1-002	KNOWN	basic	processed_transcript	SPATA31C1	HGNC	pseudogene	OTTHUMT00000467313.1	-	0.00	207	0	C	NM_001145124		90535546	+1	tier1	-	no_errors	ENST00000602681	ensembl	human	known	74_37	rna	22.60	137	40	SNP	0.000	T
SPATA6	54558	genome.wustl.edu	37	1	48821240	48821240	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:48821240delT	ENST00000371847.3	-	11	1359				SPATA6_ENST00000396199.3_Intron|SPATA6_ENST00000371843.3_Intron	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GCTTGCTTTCTTTTTTTCTTC	0.338																																																	0																																										SO:0001627	intron_variant	0			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1194+101A>-	1.37:g.48821240delT			Q5T3N7|Q8WUE6	RNA	DEL	-	NULL	ENST00000371847.3	37	NULL	CCDS551.1	1																																																																																			SPATA6	-	-	ENSG00000132122		0.338	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1		0.00	14	0	T	NM_019073		48821240	-1	tier1		no_errors	ENST00000487629	ensembl	human	known	74_37	rna	12.50	21	3	DEL	0.023	-
SPEF2	79925	genome.wustl.edu	37	5	35705894	35705895	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:35705894_35705895delAA	ENST00000356031.3	+	18	2803_2804	c.2649_2650delAA	c.(2647-2652)gcaaaafs	p.K886fs	SPEF2_ENST00000440995.2_Frame_Shift_Del_p.K881fs|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.K881fs|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	886					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.K886fs*8(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGAAATAGCAAAAAAAAAGAA	0.267																																																	1	Deletion - Frameshift(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2649_2650delAA	5.37:g.35705900_35705901delAA	ENSP00000348314:p.Lys886fs		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Del	DEL	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.K886fs	ENST00000356031.3	37	c.2649_2650	CCDS43309.1	5																																																																																			SPEF2	-	NULL	ENSG00000152582		0.267	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1		0.00	47	0	AA	NM_144722		35705895	+1	tier1		no_errors	ENST00000356031	ensembl	human	known	74_37	frame_shift_del	24.56	43	14	DEL	0.129:0.963	-
SPEF2	79925	genome.wustl.edu	37	5	35779244	35779244	+	Missense_Mutation	SNP	C	C	T	rs529179346	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:35779244C>T	ENST00000356031.3	+	30	4397	c.4243C>T	c.(4243-4245)Cgc>Tgc	p.R1415C	SPEF2_ENST00000440995.2_Missense_Mutation_p.R1410C|SPEF2_ENST00000303129.4_5'Flank|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1415					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGACGTAGCTCGCTATCACAT	0.323													C|||	2	0.000399361	0.0	0.0	5008	,	,		18001	0.0		0.0	False		,,,				2504	0.002																0													54.0	50.0	51.0					5																	35779244		1821	4084	5905	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4243C>T	5.37:g.35779244C>T	ENSP00000348314:p.Arg1415Cys		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.R1415C	ENST00000356031.3	37	c.4243	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566788	0.65651	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.08984	3.04;3.03	5.54	5.54	0.83059	.	0.239228	0.40554	N	0.001067	T	0.25531	0.0621	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.66196	0.942;0.877	T	0.00031	-1.2279	10	0.87932	D	0	.	17.4309	0.87539	0.0:1.0:0.0:0.0	.	1410;1415	Q9C093-2;Q9C093	.;SPEF2_HUMAN	C	1415;1410	ENSP00000348314:R1415C;ENSP00000412125:R1410C	ENSP00000348314:R1415C	R	+	1	0	SPEF2	35815001	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	4.574000	0.60900	2.880000	0.98712	0.650000	0.86243	CGC	SPEF2	-	NULL	ENSG00000152582		0.323	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0.00	57	0	C	NM_144722		35779244	+1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	T
SPEG	10290	genome.wustl.edu	37	2	220349121	220349121	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:220349121G>A	ENST00000312358.7	+	30	7068	c.6936G>A	c.(6934-6936)gtG>gtA	p.V2312V	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2312	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TTCCCACGGTGCCCCCCAGGC	0.687																																																	0													14.0	18.0	16.0					2																	220349121		1930	4047	5977	SO:0001819	synonymous_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6936G>A	2.37:g.220349121G>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V2312	ENST00000312358.7	37	c.6936	CCDS42824.1	2																																																																																			SPEG	-	NULL	ENSG00000072195		0.687	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	-	0.00	65	0	G	NM_005876		220349121	+1	tier1	-	no_errors	ENST00000312358	ensembl	human	novel	74_37	silent	14.58	41	7	SNP	0.000	A
SPEN	23013	genome.wustl.edu	37	1	16260997	16260997	+	Silent	SNP	G	G	T	rs562468469		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:16260997G>T	ENST00000375759.3	+	11	8466	c.8262G>T	c.(8260-8262)acG>acT	p.T2754T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2754	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTGGTGTAACGGCCACAACAG	0.577																																																	0													78.0	70.0	73.0					1																	16260997		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8262G>T	1.37:g.16260997G>T			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.T2754	ENST00000375759.3	37	c.8262	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.577	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	-	0.00	53	0	G	NM_015001		16260997	+1	tier1	-	no_errors	ENST00000375759	ensembl	human	known	74_37	silent	35.29	22	12	SNP	0.185	T
SPG11	80208	genome.wustl.edu	37	15	44907749	44907750	+	Frame_Shift_Ins	INS	-	-	A	rs312262751		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:44907749_44907750insA	ENST00000261866.7	-	16	2865_2866	c.2849_2850insT	c.(2848-2850)ttgfs	p.L950fs	SPG11_ENST00000535302.2_Frame_Shift_Ins_p.L950fs|SPG11_ENST00000427534.2_Frame_Shift_Ins_p.L950fs|SPG11_ENST00000558319.1_Frame_Shift_Ins_p.L950fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	950					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTTCAGATGCCAAAAAAACCCC	0.406																																																	0																																										SO:0001589	frameshift_variant	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2850dupT	15.37:g.44907756_44907756dupA	ENSP00000261866:p.Leu950fs		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Frame_Shift_Ins	INS	NULL	p.L950fs	ENST00000261866.7	37	c.2850_2849	CCDS10112.1	15																																																																																			SPG11	-	NULL	ENSG00000104133		0.406	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1		0.00	20	0	-			44907750	-1	tier1		no_errors	ENST00000261866	ensembl	human	known	74_37	frame_shift_ins	10.71	25	3	INS	0.098:0.982	A
SPHK2	56848	genome.wustl.edu	37	19	49129476	49129476	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49129476G>C	ENST00000245222.4	+	3	734	c.368G>C	c.(367-369)gGc>gCc	p.G123A	SPHK2_ENST00000443164.1_Missense_Mutation_p.G185A|SPHK2_ENST00000601712.1_Missense_Mutation_p.G87A|SPHK2_ENST00000599033.1_3'UTR|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000600537.1_Missense_Mutation_p.G64A|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000598088.1_Missense_Mutation_p.G123A|SPHK2_ENST00000599029.1_Missense_Mutation_p.G87A|AC022154.7_ENST00000594850.1_RNA|SPHK2_ENST00000340932.3_Missense_Mutation_p.G87A|SPHK2_ENST00000599748.1_Missense_Mutation_p.G87A	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	123	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TACCCTcggggccggcgcggg	0.716																																																	0													10.0	12.0	11.0					19																	49129476		2136	4200	6336	SO:0001583	missense	0			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.368G>C	19.37:g.49129476G>C	ENSP00000245222:p.Gly123Ala		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.G185A	ENST00000245222.4	37	c.554	CCDS12727.1	19	.	.	.	.	.	.	.	.	.	.	G	1.759	-0.487225	0.04352	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.25414	2.15;1.85;1.8	3.77	3.77	0.43336	.	0.143972	0.47455	D	0.000227	T	0.19685	0.0473	L	0.48642	1.525	0.33568	D	0.598193	B;B;B;B	0.28233	0.002;0.012;0.204;0.003	B;B;B;B	0.20955	0.002;0.006;0.032;0.007	T	0.16453	-1.0402	10	0.10111	T	0.7	-54.4138	13.4977	0.61436	0.0:0.0:1.0:0.0	.	64;185;87;123	B4DU87;A0T4C8;Q9NRA0-3;Q9NRA0	.;.;.;SPHK2_HUMAN	A	123;96;87;185	ENSP00000245222:G123A;ENSP00000341091:G87A;ENSP00000413369:G185A	ENSP00000245222:G123A	G	+	2	0	SPHK2	53821288	1.000000	0.71417	0.991000	0.47740	0.401000	0.30781	1.232000	0.32636	2.113000	0.64589	0.563000	0.77884	GGC	SPHK2	-	NULL	ENSG00000063176		0.716	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	-	0.00	17	0	G			49129476	+1	tier1	-	no_errors	ENST00000443164	ensembl	human	known	74_37	missense	54.55	5	6	SNP	0.986	C
SPIN2B	474343	genome.wustl.edu	37	X	57146545	57146545	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:57146545T>C	ENST00000333933.3	-	2	828	c.518A>G	c.(517-519)tAc>tGc	p.Y173C	SPIN2B_ENST00000275988.5_Missense_Mutation_p.Y173C|SPIN2B_ENST00000374912.5_Missense_Mutation_p.Y173C|SPIN2B_ENST00000460948.1_Intron|RP3-323P24.3_ENST00000439622.1_RNA|SPIN2B_ENST00000374910.3_Intron	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	173					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						CTGGTACATGTACAAGACAGG	0.463																																																	0													26.0	24.0	24.0					X																	57146545		2196	4267	6463	SO:0001583	missense	0			AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.518A>G	X.37:g.57146545T>C	ENSP00000335008:p.Tyr173Cys		Q7Z2M0	Missense_Mutation	SNP	pfam_Spin_Ssty	p.Y173C	ENST00000333933.3	37	c.518	CCDS35311.1	X	.	.	.	.	.	.	.	.	.	.	t	14.00	2.404383	0.42613	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000333933;ENST00000434397	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	2.37	2.37	0.29283	.	0.000000	0.64402	D	0.000001	T	0.81475	0.4830	M	0.67397	2.05	0.47621	D	0.999477	D	0.89917	1.0	D	0.79108	0.992	T	0.81391	-0.0954	10	0.87932	D	0	-21.5255	7.9777	0.30164	0.0:0.0:0.0:1.0	.	173	Q9BPZ2	SPI2B_HUMAN	C	173	ENSP00000275988:Y173C;ENSP00000364047:Y173C;ENSP00000335008:Y173C;ENSP00000404314:Y173C	ENSP00000275988:Y173C	Y	-	2	0	SPIN2B	57163270	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.542000	0.73869	1.215000	0.43411	0.143000	0.16000	TAC	SPIN2B	-	pfam_Spin_Ssty	ENSG00000186787		0.463	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN2B	HGNC	protein_coding	OTTHUMT00000056912.1	-	0.00	43	0	T	NM_001006681		57146545	-1	tier1	-	no_errors	ENST00000275988	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	C
SPINK13	153218	genome.wustl.edu	37	5	147649640	147649640	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:147649640C>A	ENST00000512953.1	+	3	536	c.5C>A	c.(4-6)gCt>gAt	p.A2D	SPINK13_ENST00000511106.1_5'UTR|SPINK13_ENST00000398450.4_Missense_Mutation_p.A2D|RP11-373N22.3_ENST00000501695.3_RNA			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	2					negative regulation of acrosome reaction (GO:1902225)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|lung(3)	5						GATCAAATGGCTGCCTTTCCC	0.408																																																	0													228.0	208.0	214.0					5																	147649640		1858	4095	5953	SO:0001583	missense	0				CCDS43383.1	5q32	2011-08-31			ENSG00000214510	ENSG00000214510		"""Serine peptidase inhibitors, Kazal type"""	27200	protein-coding gene	gene with protein product		615205					Standard	NM_001040129		Approved	SPINK5L3, LiESP6, HESPINTOR, MGC149260, HBVDNAPTP1	uc003lpc.3	Q1W4C9	OTTHUMG00000163426	ENST00000512953.1:c.5C>A	5.37:g.147649640C>A	ENSP00000421048:p.Ala2Asp		A1A4Y2	Missense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom	p.A2D	ENST00000512953.1	37	c.5	CCDS43383.1	5	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419487	0.62622	.	.	ENSG00000214510	ENST00000512953;ENST00000398450	D;D	0.85773	-2.03;-2.03	3.99	3.99	0.46301	.	.	.	.	.	D	0.90109	0.6910	.	.	.	0.24203	N	0.9955	D	0.76494	0.999	D	0.65773	0.938	T	0.81335	-0.0979	8	0.62326	D	0.03	-0.8141	11.9878	0.53157	0.0:1.0:0.0:0.0	.	2	Q1W4C9	ISK13_HUMAN	D	2	ENSP00000421048:A2D;ENSP00000381468:A2D	ENSP00000381468:A2D	A	+	2	0	SPINK13	147629833	0.086000	0.21541	0.924000	0.36721	0.151000	0.21798	0.427000	0.21379	2.533000	0.85409	0.603000	0.83216	GCT	SPINK13	-	NULL	ENSG00000214510		0.408	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINK13	HGNC	protein_coding	OTTHUMT00000373337.1	-	0.00	88	0	C	NM_001040129.2		147649640	+1	tier1	-	no_errors	ENST00000398450	ensembl	human	known	74_37	missense	15.62	54	10	SNP	0.945	A
SPNS1	83985	genome.wustl.edu	37	16	28995600	28995600	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:28995600G>A	ENST00000311008.11	+	12	1944	c.1567G>A	c.(1567-1569)Gtg>Atg	p.V523M	SPNS1_ENST00000334536.8_Missense_Mutation_p.V471M|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000565975.1_Missense_Mutation_p.V568M|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000352260.7_Missense_Mutation_p.V449M|LAT_ENST00000395461.3_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000323081.8_Missense_Mutation_p.V450M	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	523					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCGCGTGCCCGTGGCCAGTGT	0.697																																																	0													25.0	27.0	26.0					16																	28995600		2194	4293	6487	SO:0001583	missense	0			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1567G>A	16.37:g.28995600G>A	ENSP00000309945:p.Val523Met		B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V523M	ENST00000311008.11	37	c.1567	CCDS10646.1	16	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256559	0.59321	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.39406	1.6;1.08;1.1;1.66	4.45	4.45	0.53987	.	0.076374	0.50627	D	0.000101	T	0.57301	0.2044	L	0.48642	1.525	0.50171	D	0.999855	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.94;0.999	T	0.60934	-0.7164	10	0.87932	D	0	.	14.6389	0.68708	0.0:0.0:1.0:0.0	.	449;523;471	Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;SPNS1_HUMAN;.	M	523;471;449;450	ENSP00000309945:V523M;ENSP00000335494:V471M;ENSP00000306050:V449M;ENSP00000318228:V450M	ENSP00000309945:V523M	V	+	1	0	SPNS1	28903101	1.000000	0.71417	0.952000	0.39060	0.430000	0.31655	6.756000	0.74919	2.311000	0.77944	0.655000	0.94253	GTG	SPNS1	-	NULL	ENSG00000169682		0.697	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2		0.00	19	0	G	NM_032038		28995600	+1			no_errors	ENST00000311008	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.979	A
LLfos-48D6.1	0	genome.wustl.edu	37	19	2353292	2353292	+	RNA	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:2353292G>A	ENST00000609490.1	-	0	450				SPPL2B_ENST00000452401.2_RNA																							ACAGACAGACGCCTGTCCCCC	0.716																																																	0																																												0																															19.37:g.2353292G>A				RNA	SNP	-	NULL	ENST00000609490.1	37	NULL		19																																																																																			SPPL2B	-	-	ENSG00000005206		0.716	LLfos-48D6.1-001	KNOWN	basic	antisense	SPPL2B	HGNC	antisense	OTTHUMT00000473157.1		0.00	16	0	G			2353292	+1			no_errors	ENST00000452401	ensembl	human	known	74_37	rna	33.33	6	3	SNP	0.001	A
SPRED1	161742	genome.wustl.edu	37	15	38545225	38545225	+	5'UTR	DEL	G	G	-	rs531519324	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:38545225delG	ENST00000299084.4	+	0	699				SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1						inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTTCCCGGCTGGGGGGGTACC	0.766									Legius syndrome				GGGGGGG|GGGGGGG|GGGGGG|deletion	19	0.00379393	0.0	0.0274	5008	,	,		8581	0.0		0.0	False		,,,				2504	0.0				Melanoma(196;2146 2959 7698 16532)												0																																										SO:0001623	5_prime_UTR_variant	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.-162G>-	15.37:g.38545225delG			B2RPJ8|Q05D53|Q8N256	RNA	DEL	-	NULL	ENST00000299084.4	37	NULL	CCDS32193.1	15																																																																																			SPRED1	-	-	ENSG00000166068		0.766	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1		0.00	25	0	G			38545225	+1	tier1		no_errors	ENST00000561205	ensembl	human	known	74_37	rna	19.05	17	4	DEL	0.996	-
SPRYD7	57213	genome.wustl.edu	37	13	50502184	50502184	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:50502184G>C	ENST00000361840.3	-	3	365	c.261C>G	c.(259-261)aaC>aaG	p.N87K	SPRYD7_ENST00000378195.2_Missense_Mutation_p.N48K|SPRYD7_ENST00000492258.1_5'Flank	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	87	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						TCTGATTCAAGTTAACCTTCT	0.393																																																	0													130.0	121.0	124.0					13																	50502184		2203	4300	6503	SO:0001583	missense	0			AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"""chromosome 13 open reading frame 1"""	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.261C>G	13.37:g.50502184G>C	ENSP00000354774:p.Asn87Lys		A8K3G1|O60648|Q8TBG8|Q96T69	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.N87K	ENST00000361840.3	37	c.261	CCDS9422.1	13	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609125	0.66558	.	.	ENSG00000123178	ENST00000361840;ENST00000378195	T;T	0.64260	-0.09;-0.09	5.32	3.56	0.40772	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	L	0.60455	1.87	0.58432	D	0.999996	D;D;D	0.63880	0.959;0.993;0.959	P;D;P	0.63033	0.542;0.91;0.643	T	0.67845	-0.5565	10	0.38643	T	0.18	-14.1557	9.1493	0.36953	0.2855:0.0:0.7145:0.0	.	87;48;87	B2RE68;Q5W111-2;Q5W111	.;.;SPRY7_HUMAN	K	87;48	ENSP00000354774:N87K;ENSP00000367437:N48K	ENSP00000354774:N87K	N	-	3	2	SPRYD7	49400185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.007000	0.49536	1.388000	0.46506	0.655000	0.94253	AAC	SPRYD7	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000123178		0.393	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRYD7	HGNC	protein_coding	OTTHUMT00000044942.2	-	0.00	96	0	G	NM_020456		50502184	-1	tier1	-	no_errors	ENST00000361840	ensembl	human	known	74_37	missense	14.93	57	10	SNP	1.000	C
SPTA1	6708	genome.wustl.edu	37	1	158632566	158632566	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:158632566A>T	ENST00000368147.4	-	17	2570	c.2390T>A	c.(2389-2391)cTg>cAg	p.L797Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	797					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTACAAATCAGCTGCAGATG	0.517																																																	0													96.0	99.0	98.0					1																	158632566		1948	4136	6084	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2390T>A	1.37:g.158632566A>T	ENSP00000357129:p.Leu797Gln		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.L797Q	ENST00000368147.4	37	c.2390	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.131032	0.00338	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.42900	0.96;0.96	4.41	2.01	0.26516	.	0.297847	0.18418	N	0.141834	T	0.01092	0.0036	N	0.00007	-3.185	0.29400	N	0.86199	B	0.02656	0.0	B	0.08055	0.003	T	0.44483	-0.9325	10	0.02654	T	1	.	7.5863	0.27995	0.3891:0.0:0.0:0.6108	.	797	P02549	SPTA1_HUMAN	Q	797	ENSP00000357130:L797Q;ENSP00000357129:L797Q	ENSP00000357129:L797Q	L	-	2	0	SPTA1	156899190	1.000000	0.71417	0.060000	0.19600	0.035000	0.12851	2.743000	0.47442	0.205000	0.20568	-0.339000	0.08088	CTG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.517	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	69	0	A	NM_003126		158632566	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	12.50	41	6	SNP	1.000	T
SPTBN2	6712	genome.wustl.edu	37	11	66472851	66472851	+	Silent	SNP	C	C	T	rs200001140		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66472851C>T	ENST00000533211.1	-	15	2227	c.1896G>A	c.(1894-1896)gcG>gcA	p.A632A	SPTBN2_ENST00000529997.1_Silent_p.A632A|SPTBN2_ENST00000309996.2_Silent_p.A632A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	632			LAAARR -> W (in SCA5). {ECO:0000269|PubMed:16429157}.		actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGGCCCGCCGCGCCGCTGCCA	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15457	0.0		0.0	False		,,,				2504	0.0																0													24.0	27.0	26.0					11																	66472851		2179	4266	6445	SO:0001819	synonymous_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1896G>A	11.37:g.66472851C>T			O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A632	ENST00000533211.1	37	c.1896	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.657	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2		0.00	18	0	C	NM_006946		66472851	-1			no_errors	ENST00000309996	ensembl	human	known	74_37	silent	16.13	26	5	SNP	0.000	T
SPTBN5	51332	genome.wustl.edu	37	15	42147436	42147436	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:42147436G>T	ENST00000320955.6	-	55	9636	c.9409C>A	c.(9409-9411)Ctg>Atg	p.L3137M		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3137					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACACCCTCCAGGTCCTGCCCG	0.647																																																	0													24.0	27.0	26.0					15																	42147436		2045	4170	6215	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9409C>A	15.37:g.42147436G>T	ENSP00000317790:p.Leu3137Met			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L3137M	ENST00000320955.6	37	c.9409		15	.	.	.	.	.	.	.	.	.	.	.	19.12	3.765588	0.69878	.	.	ENSG00000137877	ENST00000320955	T	0.59502	0.26	5.27	5.27	0.74061	.	0.000000	0.52532	D	0.000073	T	0.73845	0.3639	M	0.84326	2.69	0.27039	N	0.964065	D	0.89917	1.0	D	0.97110	1.0	T	0.69636	-0.5092	10	0.72032	D	0.01	.	6.855	0.24036	0.2149:0.0:0.7851:0.0	.	3137	Q9NRC6	SPTN5_HUMAN	M	3137	ENSP00000317790:L3137M	ENSP00000317790:L3137M	L	-	1	2	SPTBN5	39934728	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.722000	0.38042	2.447000	0.82792	0.655000	0.94253	CTG	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0.00	52	0	G	NM_016642		42147436	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	missense	27.69	47	18	SNP	1.000	T
SRCAP	10847	genome.wustl.edu	37	16	30736371	30736371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:30736371delC	ENST00000262518.4	+	25	6011	c.5626delC	c.(5626-5628)cccfs	p.P1880fs	SRCAP_ENST00000395059.2_Frame_Shift_Del_p.P1818fs|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.P1722fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1880	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGACGCCAGCCCCCCCCACC	0.567																																																	0													55.0	67.0	63.0					16																	30736371		2197	4295	6492	SO:0001589	frameshift_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5626delC	16.37:g.30736371delC	ENSP00000262518:p.Pro1880fs		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P1878fs	ENST00000262518.4	37	c.5626	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1		0.00	73	0	C	NM_006662		30736371	+1	tier1		no_errors	ENST00000262518	ensembl	human	known	74_37	frame_shift_del	10.34	52	6	DEL	1.000	-
SREK1	140890	genome.wustl.edu	37	5	65475195	65475195	+	IGR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:65475195C>T	ENST00000380918.3	+	0	2433				SREK1_ENST00000334121.6_3'UTR|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GAAGTTTTAACATTTACTTCA	0.284																																					GBM(10;31 347 27684 38976 41583)												0																																										SO:0001628	intergenic_variant	0			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809		5.37:g.65475195C>T			A4FTW3|Q2M1J0|Q86X37	RNA	SNP	-	NULL	ENST00000380918.3	37	NULL	CCDS3991.1	5																																																																																			SREK1	-	-	ENSG00000153914		0.284	SREK1-002	KNOWN	basic|CCDS	protein_coding	SREK1	HGNC	protein_coding	OTTHUMT00000381118.1	-	0.00	72	0	C	NM_001077199		65475195	+1	tier1	-	no_errors	ENST00000284041	ensembl	human	known	74_37	rna	27.40	53	20	SNP	0.998	T
SRGAP2-AS1	100873165	genome.wustl.edu	37	1	121103696	121103696	+	lincRNA	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:121103696delT	ENST00000437515.1	-	0	824					NR_104189.1																						TCCAAAGTAATTTTTTCCCCC	0.323																																																	0																																												0																															1.37:g.121103696delT				RNA	DEL	-	NULL	ENST00000437515.1	37	NULL		1																																																																																			RP11-343N15.1	-	-	ENSG00000230806		0.323	RP11-343N15.1-002	KNOWN	basic	lincRNA	SRGAP2-AS1	Clone_based_vega_gene	lincRNA	OTTHUMT00000098477.2		0.00	16	0	T			121103696	-1			no_errors	ENST00000437515	ensembl	human	known	74_37	rna	42.31	15	11	DEL	0.989	0
SRPR	6734	genome.wustl.edu	37	11	126137087	126137087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:126137087delT	ENST00000332118.6	-	4	663	c.509delA	c.(508-510)aagfs	p.K170fs	FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000532259.1_Frame_Shift_Del_p.K142fs|FOXRED1_ENST00000263578.5_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	170					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.K170fs*33(2)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTGGCCCCCTTTTTTTTGCT	0.438																																																	2	Deletion - Frameshift(2)	ovary(2)											347.0	340.0	342.0					11																	126137087		2201	4299	6500	SO:0001589	frameshift_variant	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.509delA	11.37:g.126137087delT	ENSP00000328023:p.Lys170fs		A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Frame_Shift_Del	DEL	pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom	p.K170fs	ENST00000332118.6	37	c.509	CCDS31717.1	11																																																																																			SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N	ENSG00000182934		0.438	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2		0.00	111	0	T	NM_003139		126137087	-1			no_errors	ENST00000332118	ensembl	human	known	74_37	frame_shift_del	7.37	88	7	DEL	0.991	0
SRRM3	222183	genome.wustl.edu	37	7	75894705	75894705	+	Missense_Mutation	SNP	G	G	A	rs527778424		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:75894705G>A	ENST00000326382.8	+	10	956	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	SRRM3_ENST00000388802.4_Missense_Mutation_p.R250Q	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	250	Arg-rich.|Ser-rich.									NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TCCCCAGGCCGGAGGTCTCAT	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11619	0.0		0.0	False		,,,				2504	0.0																0													48.0	49.0	49.0					7																	75894705		1568	3582	5150	SO:0001583	missense	0			AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.749G>A	7.37:g.75894705G>A	ENSP00000325298:p.Arg250Gln		A6ND75	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R250Q	ENST00000326382.8	37	c.749		7	.	.	.	.	.	.	.	.	.	.	G	16.37	3.102935	0.56183	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	T	0.02301	4.35	4.86	4.86	0.63082	.	0.326197	0.22332	N	0.061450	T	0.06872	0.0175	L	0.53249	1.67	0.23376	N	0.997805	D	0.76494	0.999	P	0.56751	0.805	T	0.44251	-0.9340	10	0.13853	T	0.58	-16.9334	16.9862	0.86340	0.0:0.0:1.0:0.0	.	250	A6NNA2	SRRM3_HUMAN	Q	250	ENSP00000373454:R250Q	ENSP00000325298:R250Q	R	+	2	0	SRRM3	75732641	0.954000	0.32549	0.993000	0.49108	0.973000	0.67179	3.387000	0.52501	2.254000	0.74563	0.555000	0.69702	CGG	SRRM3	-	NULL	ENSG00000177679		0.647	SRRM3-001	KNOWN	basic	protein_coding	SRRM3	HGNC	protein_coding	OTTHUMT00000252889.2	-	0.00	76	0	G	NM_001110199		75894705	+1	tier1	-	no_errors	ENST00000388802	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.461	A
SSH2	85464	genome.wustl.edu	37	17	27958431	27958431	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:27958431G>A	ENST00000269033.3	-	15	3851	c.3700C>T	c.(3700-3702)Cgt>Tgt	p.R1234C	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R1261C	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1234					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTTAGCACGCTCCTTCACC	0.512																																																	0													83.0	82.0	82.0					17																	27958431		2203	4300	6503	SO:0001583	missense	0			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3700C>T	17.37:g.27958431G>A	ENSP00000269033:p.Arg1234Cys		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.R1234C	ENST00000269033.3	37	c.3700	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105432	0.20632	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.47177	0.85;0.85	6.17	4.19	0.49359	.	2.192370	0.01383	N	0.013004	T	0.48502	0.1503	L	0.50333	1.59	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.09377	0.004;0.002	T	0.30794	-0.9966	10	0.87932	D	0	0.0278	9.1989	0.37246	0.0653:0.0:0.6726:0.2621	.	1261;1234	F5H527;Q76I76	.;SSH2_HUMAN	C	1234;1261	ENSP00000269033:R1234C;ENSP00000444743:R1261C	ENSP00000269033:R1234C	R	-	1	0	SSH2	24982557	1.000000	0.71417	0.477000	0.27303	0.337000	0.28794	3.303000	0.51858	0.937000	0.37394	0.655000	0.94253	CGT	SSH2	-	NULL	ENSG00000141298		0.512	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	-	0.00	53	0	G	NM_033389		27958431	-1	tier1	-	no_errors	ENST00000269033	ensembl	human	known	74_37	missense	26.67	44	16	SNP	0.845	A
SSMEM1	136263	genome.wustl.edu	37	7	129847928	129847928	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:129847928G>T	ENST00000297819.3	+	1	229	c.178G>T	c.(178-180)Gtc>Ttc	p.V60F	TMEM209_ENST00000473456.1_5'Flank|TMEM209_ENST00000397622.2_5'Flank|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_5'Flank|TMEM209_ENST00000462753.1_5'Flank	NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	60						integral component of membrane (GO:0016021)		p.V60F(1)|p.V60I(1)									TAGGGCTTCTGTCTGGGTAGG	0.333																																																	2	Substitution - Missense(2)	lung(1)|endometrium(1)											181.0	181.0	181.0					7																	129847928		2203	4300	6503	SO:0001583	missense	0			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.178G>T	7.37:g.129847928G>T	ENSP00000297819:p.Val60Phe			Missense_Mutation	SNP	NULL	p.V60F	ENST00000297819.3	37	c.178	CCDS5816.1	7	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235950	0.58886	.	.	ENSG00000165120	ENST00000297819	T	0.52526	0.66	5.84	-3.2	0.05156	.	1.142040	0.06464	N	0.729938	T	0.38134	0.1029	L	0.57536	1.79	0.32216	N	0.57593	B	0.24368	0.102	B	0.24155	0.051	T	0.44937	-0.9295	10	0.51188	T	0.08	0.1647	2.2569	0.04057	0.155:0.3331:0.3043:0.2076	.	60	Q8WWF3	CG045_HUMAN	F	60	ENSP00000297819:V60F	ENSP00000297819:V60F	V	+	1	0	C7orf45	129635164	0.729000	0.28090	0.925000	0.36789	0.925000	0.55904	-0.599000	0.05700	-0.432000	0.07297	0.655000	0.94253	GTC	SSMEM1	-	NULL	ENSG00000165120		0.333	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSMEM1	HGNC	protein_coding	OTTHUMT00000349768.1		0.00	56	0	G	NM_145268		129847928	+1			no_errors	ENST00000297819	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.839	T
SSPO	23145	genome.wustl.edu	37	7	149484529	149484529	+	RNA	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:149484529G>A	ENST00000378016.2	+	0	3452							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACTTTGATGGAGATGCCAGT	0.632																																																	0													69.0	82.0	78.0					7																	149484529		2182	4274	6456			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149484529G>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.632	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0.00	40	0	G			149484529	+1	tier1	-	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	10.64	42	5	SNP	1.000	A
SSPO	23145	genome.wustl.edu	37	7	149501110	149501110	+	RNA	DEL	G	G	-	rs530953664		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:149501110delG	ENST00000378016.2	+	0	8246							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGCAGCCTGGGGGGGTGCC	0.667																																																	0										21,3497		2,17,1740						-0.7	0.0			8	99,7475		35,29,3723	no	frameshift	SSPO	NM_198455.2		37,46,5463	A1A1,A1R,RR		1.3071,0.5969,1.0819				120,10972						0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149501110delG			Q76B61	RNA	DEL	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.667	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript			0.00	100	0	G			149501110	+1	tier1		no_errors	ENST00000378016	ensembl	human	known	74_37	rna	8.47	54	5	DEL	0.000	-
SSTR3	6753	genome.wustl.edu	37	22	37602691	37602691	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:37602691C>T	ENST00000328544.3	-	2	1685	c.1152G>A	c.(1150-1152)ggG>ggA	p.G384G	SSTR3_ENST00000402501.1_Silent_p.G384G	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	384					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCCGCTCCTGCCCGCTGGTGC	0.662																																																	0													46.0	44.0	45.0					22																	37602691		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1152G>A	22.37:g.37602691C>T			A8K550|Q53ZR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt	p.G384	ENST00000328544.3	37	c.1152	CCDS13944.1	22																																																																																			SSTR3	-	NULL	ENSG00000183473		0.662	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	HGNC	protein_coding	OTTHUMT00000318802.1	-	0.00	93	0	C			37602691	-1	tier1	-	no_errors	ENST00000328544	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.013	T
ST18	9705	genome.wustl.edu	37	8	53071577	53071577	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:53071577A>G	ENST00000276480.7	-	15	2370	c.1687T>C	c.(1687-1689)Tac>Cac	p.Y563H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	563					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CATTGACCGTAGCTATAAGAG	0.537																																																	0													106.0	112.0	110.0					8																	53071577		2203	4300	6503	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1687T>C	8.37:g.53071577A>G	ENSP00000276480:p.Tyr563His		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.Y563H	ENST00000276480.7	37	c.1687	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	A	12.82	2.052107	0.36181	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.51574	0.7;0.7	6.08	2.45	0.29901	Myelin transcription factor 1 (1);	0.229141	0.46758	N	0.000272	T	0.40932	0.1137	L	0.55103	1.725	0.35986	D	0.836349	B;B	0.18968	0.032;0.011	B;B	0.23419	0.046;0.027	T	0.37174	-0.9717	10	0.34782	T	0.22	-7.7457	9.4442	0.38688	0.7974:0.0:0.2026:0.0	.	563;563	E5RHS3;O60284	.;ST18_HUMAN	H	563	ENSP00000276480:Y563H;ENSP00000428521:Y563H	ENSP00000276480:Y563H	Y	-	1	0	ST18	53234130	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.729000	0.54999	0.195000	0.20347	0.533000	0.62120	TAC	ST18	-	pfam_Myelin_TF	ENSG00000147488		0.537	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0.00	36	0	A			53071577	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	G
ST3GAL2	6483	genome.wustl.edu	37	16	70415756	70415756	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:70415756A>G	ENST00000393640.4	-	6	2996	c.889T>C	c.(889-891)Tac>Cac	p.Y297H	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.Y297H			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	297					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CCGAACCCGTACACGTTCACC	0.701																																																	0													62.0	61.0	62.0					16																	70415756		2198	4300	6498	SO:0001583	missense	0			U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.889T>C	16.37:g.70415756A>G	ENSP00000377257:p.Tyr297His		O00654	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Y297H	ENST00000393640.4	37	c.889	CCDS10890.1	16	.	.	.	.	.	.	.	.	.	.	A	33	5.255255	0.95336	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.40476	1.03;1.03	6.08	6.08	0.98989	.	0.143879	0.64402	D	0.000007	T	0.54647	0.1871	M	0.88377	2.95	0.47245	D	0.999363	B	0.16802	0.019	B	0.20184	0.028	T	0.57370	-0.7823	10	0.87932	D	0	-20.827	16.6512	0.85203	1.0:0.0:0.0:0.0	.	297	Q16842	SIA4B_HUMAN	H	297	ENSP00000345477:Y297H;ENSP00000377257:Y297H	ENSP00000345477:Y297H	Y	-	1	0	ST3GAL2	68973257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.204000	0.95041	2.333000	0.79357	0.482000	0.46254	TAC	ST3GAL2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000157350		0.701	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL2	HGNC	protein_coding	OTTHUMT00000268968.1	-	0.00	57	0	A	NM_006927		70415756	-1	tier1	-	no_errors	ENST00000342907	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	G
ST6GAL2	84620	genome.wustl.edu	37	2	107423316	107423316	+	Missense_Mutation	SNP	C	C	T	rs141942088		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:107423316C>T	ENST00000409382.3	-	6	2018	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E470K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	470					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TAGTACAGCTCGTGGTAGTGG	0.557																																																	0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	79.0	70.0	73.0		1408,1408	5.8	1.0	2	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ST6GAL2	NM_001142351.1,NM_032528.2	56,56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	470/530,470/530	107423316	2,13004	2203	4300	6503	SO:0001583	missense	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1408G>A	2.37:g.107423316C>T	ENSP00000386942:p.Glu470Lys		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.E470K	ENST00000409382.3	37	c.1408	CCDS2073.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.861469|5.861469	0.97036|0.97036	0.0|0.0	2.33E-4|2.33E-4	ENSG00000144057|ENSG00000144057	ENST00000361686;ENST00000409382|ENST00000361803	T;T|.	0.36340|.	1.26;1.26|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85592|0.85592	0.5732|0.5732	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.65573|.	0.936|.	D|D	0.87548|0.87548	0.2463|0.2463	10|5	0.87932|.	D|.	0|.	-49.4922|-49.4922	19.0512|19.0512	0.93046|0.93046	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	470|.	Q96JF0|.	SIAT2_HUMAN|.	K|Q	470|35	ENSP00000355273:E470K;ENSP00000386942:E470K|.	ENSP00000355273:E470K|.	E|R	-|-	1|2	0|0	ST6GAL2|ST6GAL2	106789748|106789748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.003000|6.003000	0.70701|0.70701	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAG|CGA	ST6GAL2	-	pfam_Glyco_trans_29	ENSG00000144057		0.557	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	-	0.00	14	0	C	NM_032528		107423316	-1	tier1	rs141942088	no_errors	ENST00000361686	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	T
ST6GALNAC4	27090	genome.wustl.edu	37	9	130672349	130672349	+	Intron	DEL	G	G	-	rs369939675		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:130672349delG	ENST00000335791.5	-	5	887				ST6GALNAC4_ENST00000343609.2_Intron|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4						cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						TGGGGGTGGCGGGGGGACAGG	0.637																																																	0													24.0	23.0	24.0					9																	130672349		2203	4299	6502	SO:0001627	intron_variant	0			AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.612-12C>-	9.37:g.130672349delG			Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	RNA	DEL	-	NULL	ENST00000335791.5	37	NULL	CCDS6883.1	9																																																																																			ST6GALNAC4	-	-	ENSG00000136840		0.637	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC4	HGNC	protein_coding	OTTHUMT00000054317.2		0.00	74	0	G	NM_175040		130672349	-1	tier1		no_errors	ENST00000495983	ensembl	human	known	74_37	rna	23.33	46	14	DEL	0.000	-
ST7-OT4	338069	genome.wustl.edu	37	7	116596663	116596663	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:116596663delG	ENST00000397750.3	+	4	797	c.256delG	c.(256-258)gggfs	p.G87fs	ST7_ENST00000393449.1_Intron|ST7_ENST00000323984.3_Intron|ST7-OT4_ENST00000397751.1_Frame_Shift_Del_p.G87fs|ST7_ENST00000265437.5_Intron|ST7-AS1_ENST00000456775.1_RNA|ST7_ENST00000393451.3_Intron|ST7_ENST00000393446.2_Intron|ST7-OT4_ENST00000466018.1_Intron					ST7 overlapping transcript 4																		TGTACCTGTAGGGGGATGGAA	0.488																																																	0																																										SO:0001589	frameshift_variant	0			BM413623		7q31.2	2013-03-06	2013-03-06	2011-08-19	ENSG00000214188	ENSG00000214188		"""Long non-coding RNAs"", ""-"""	18835	other	unknown	"""non-protein coding RNA 42"""		"""ST7 overlapping transcript 4 (non-protein coding)"""	ST7OT4		12213198	Standard	NR_002329		Approved	NCRNA00042	uc003vip.1		OTTHUMG00000063631	ENST00000397750.3:c.256delG	7.37:g.116596663delG	ENSP00000380858:p.Gly87fs			Frame_Shift_Del	DEL	NULL	p.G87fs	ENST00000397750.3	37	c.256		7																																																																																			ST7-OT4	-	NULL	ENSG00000214188		0.488	ST7-OT4-001	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	ST7-OT4	HGNC	protein_coding	OTTHUMT00000137763.3		0.00	54	0	G	NR_002329		116596663	+1	tier1		no_errors	ENST00000397750	ensembl	human	putative	74_37	frame_shift_del	15.00	34	6	DEL	0.000	-
STARD13	90627	genome.wustl.edu	37	13	33703975	33703975	+	Missense_Mutation	SNP	C	C	A	rs374836026		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:33703975C>A	ENST00000336934.5	-	5	955	c.839G>T	c.(838-840)cGg>cTg	p.R280L	STARD13_ENST00000399365.3_Missense_Mutation_p.R162L|STARD13_ENST00000255486.4_Missense_Mutation_p.R272L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	280					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.R280L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCACCTGTCCGCCCAGACCC	0.542																																																	2	Substitution - Missense(2)	lung(2)											92.0	89.0	90.0					13																	33703975		2203	4300	6503	SO:0001583	missense	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.839G>T	13.37:g.33703975C>A	ENSP00000338785:p.Arg280Leu		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.R280L	ENST00000336934.5	37	c.839	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002618	0.74932	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06449	3.3;3.3;3.31	5.81	4.96	0.65561	.	0.212430	0.40728	N	0.001023	T	0.13543	0.0328	M	0.65975	2.015	0.80722	D	1	P;P;B;B	0.49783	0.928;0.638;0.18;0.393	P;B;B;B	0.47299	0.543;0.332;0.081;0.168	T	0.01363	-1.1374	10	0.48119	T	0.1	.	14.8827	0.70545	0.0:0.9312:0.0:0.0688	.	272;245;280;272	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	162;272;280;272	ENSP00000382300:R162L;ENSP00000255486:R272L;ENSP00000338785:R280L	ENSP00000255486:R272L	R	-	2	0	STARD13	32601975	0.961000	0.32948	0.883000	0.34634	0.940000	0.58332	1.428000	0.34892	1.459000	0.47892	0.655000	0.94253	CGG	STARD13	-	NULL	ENSG00000133121		0.542	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0.00	45	0	C	NM_001243466		33703975	-1	tier1	-	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	20.00	28	7	SNP	0.835	A
STARD7	56910	genome.wustl.edu	37	2	96852544	96852544	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:96852544T>C	ENST00000337288.5	-	8	1420	c.1037A>G	c.(1036-1038)gAa>gGa	p.E346G	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	346						mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						GGCCTTGGCTTCACTACTCAT	0.502																																																	0													78.0	72.0	74.0					2																	96852544		2203	4300	6503	SO:0001583	missense	0			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.1037A>G	2.37:g.96852544T>C	ENSP00000338030:p.Glu346Gly		D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.E346G	ENST00000337288.5	37	c.1037	CCDS2017.2	2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007549	0.75046	.	.	ENSG00000084090	ENST00000337288	T	0.50001	0.76	5.84	5.84	0.93424	.	0.108413	0.64402	D	0.000010	T	0.34135	0.0887	N	0.24115	0.695	0.58432	D	0.999999	P	0.34462	0.454	B	0.30401	0.115	T	0.17992	-1.0351	10	0.40728	T	0.16	-21.592	14.1803	0.65568	0.0:0.0:0.0:1.0	.	346	Q9NQZ5	STAR7_HUMAN	G	346	ENSP00000338030:E346G	ENSP00000338030:E346G	E	-	2	0	STARD7	96216271	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	4.214000	0.58527	2.227000	0.72691	0.533000	0.62120	GAA	STARD7	-	NULL	ENSG00000084090		0.502	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD7	HGNC	protein_coding	OTTHUMT00000252848.2	-	0.00	75	0	T			96852544	-1	tier1	-	no_errors	ENST00000337288	ensembl	human	known	74_37	missense	18.97	47	11	SNP	1.000	C
STARD9	57519	genome.wustl.edu	37	15	42982290	42982290	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:42982290T>C	ENST00000290607.7	+	23	8571	c.8514T>C	c.(8512-8514)ccT>ccC	p.P2838P		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	2838					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TCCAATGCCCTGAGGCTTCTA	0.498																																																	0													48.0	48.0	48.0					15																	42982290		692	1590	2282	SO:0001819	synonymous_variant	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.8514T>C	15.37:g.42982290T>C			Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Silent	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P2838	ENST00000290607.7	37	c.8514	CCDS53935.1	15																																																																																			STARD9	-	NULL	ENSG00000159433		0.498	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	-	0.00	22	0	T			42982290	+1	tier1	-	no_errors	ENST00000290607	ensembl	human	known	74_37	silent	23.81	16	5	SNP	0.000	C
STAT1	6772	genome.wustl.edu	37	2	191873795	191873795	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:191873795C>T	ENST00000361099.3	-	4	554	c.167G>A	c.(166-168)cGt>cAt	p.R56H	STAT1_ENST00000392322.3_Missense_Mutation_p.R56H|STAT1_ENST00000540176.1_Missense_Mutation_p.R56H|STAT1_ENST00000409465.1_Missense_Mutation_p.R56H|STAT1_ENST00000392323.2_Missense_Mutation_p.R58H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	56					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GTCATGAAAACGGATGGTGGC	0.378																																																	0													118.0	111.0	113.0					2																	191873795		2203	4300	6503	SO:0001583	missense	0				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.167G>A	2.37:g.191873795C>T	ENSP00000354394:p.Arg56His		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.R56H	ENST00000361099.3	37	c.167	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591477	0.66219	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000424722;ENST00000454414;ENST00000432058	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.52	1.39	0.22231	STAT transcription factor, protein interaction (4);	0.404736	0.26991	N	0.021479	T	0.61540	0.2355	M	0.65975	2.015	0.09310	N	1	D;D	0.76494	0.999;0.997	P;P	0.58873	0.847;0.846	T	0.62229	-0.6898	10	0.72032	D	0.01	-3.9781	16.1247	0.81383	0.7444:0.2555:0.0:0.0	.	56;56	P42224-2;P42224	.;STAT1_HUMAN	H	56;56;56;56;58;56;56;56	ENSP00000354394:R56H;ENSP00000386244:R56H;ENSP00000438703:R56H;ENSP00000376136:R56H;ENSP00000376137:R58H;ENSP00000402548:R56H;ENSP00000411398:R56H;ENSP00000416019:R56H	ENSP00000354394:R56H	R	-	2	0	STAT1	191582040	0.501000	0.26099	0.790000	0.31976	0.799000	0.45148	2.048000	0.41278	-0.038000	0.13624	0.557000	0.71058	CGT	STAT1	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction	ENSG00000115415		0.378	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	-	0.00	58	0	C	NM_007315		191873795	-1	tier1	-	no_errors	ENST00000361099	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.003	T
STAT5A	6776	genome.wustl.edu	37	17	40453399	40453399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:40453399delC	ENST00000345506.4	+	10	1738	c.1096delC	c.(1096-1098)cccfs	p.P367fs	STAT5A_ENST00000588868.1_Frame_Shift_Del_p.P367fs|STAT5A_ENST00000546010.2_Frame_Shift_Del_p.P337fs|STAT5A_ENST00000452307.2_Frame_Shift_Del_p.P367fs|STAT5A_ENST00000590949.1_Frame_Shift_Del_p.P367fs	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	367					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCACATGAATCCCCCCCAGGT	0.567																																																	0													148.0	126.0	133.0					17																	40453399		2203	4300	6503	SO:0001589	frameshift_variant	0			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1096delC	17.37:g.40453399delC	ENSP00000341208:p.Pro367fs		Q1KLZ6	Frame_Shift_Del	DEL	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.Q368fs	ENST00000345506.4	37	c.1096	CCDS11424.1	17																																																																																			STAT5A	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000126561		0.567	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1		0.00	90	0	C	NM_003152		40453399	+1	tier1		no_errors	ENST00000345506	ensembl	human	known	74_37	frame_shift_del	14.29	72	12	DEL	1.000	-
STAT5B	6777	genome.wustl.edu	37	17	40370235	40370236	+	Frame_Shift_Ins	INS	-	-	G	rs144993426		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:40370235_40370236insG	ENST00000293328.3	-	9	1270_1271	c.1102_1103insC	c.(1102-1104)cagfs	p.Q368fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	368					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCTTCACCTGGGGGGGGTTC	0.574																																																	0			GRCh37	CI064735	STAT5B	I																																				SO:0001589	frameshift_variant	0			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1103dupC	17.37:g.40370243_40370243dupG	ENSP00000293328:p.Gln368fs		Q8WWS8	Frame_Shift_Ins	INS	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.Q368fs	ENST00000293328.3	37	c.1103_1102	CCDS11423.1	17																																																																																			STAT5B	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000173757		0.574	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1		0.00	79	0	-	NM_012448		40370236	-1	tier1		no_errors	ENST00000293328	ensembl	human	known	74_37	frame_shift_ins	24.07	41	13	INS	1.000:1.000	G
STH	246744	genome.wustl.edu	37	17	44076968	44076968	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:44076968A>G	ENST00000537309.1	+	1	353	c.323A>G	c.(322-324)cAc>cGc	p.H108R	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	108						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H108P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTCCCTCCCACCCTGCAGCT	0.587																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	0			AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.323A>G	17.37:g.44076968A>G	ENSP00000443168:p.His108Arg		A1L3X7	Missense_Mutation	SNP	NULL	p.H108R	ENST00000537309.1	37	c.323	CCDS54136.1	17	.	.	.	.	.	.	.	.	.	.	A	5.901	0.350259	0.11182	.	.	ENSG00000256762	ENST00000537309	T	0.52754	0.65	2.83	-2.36	0.06663	.	.	.	.	.	T	0.23289	0.0563	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.31016	0.123	T	0.20306	-1.0279	9	0.87932	D	0	.	3.8598	0.08991	0.3547:0.3966:0.2487:0.0	.	108	Q8IWL8	STH_HUMAN	R	108	ENSP00000443168:H108R	ENSP00000443168:H108R	H	+	2	0	STH	41432805	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.152000	0.10159	-0.615000	0.05679	-0.415000	0.06103	CAC	STH	-	NULL	ENSG00000256762		0.587	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STH	HGNC	protein_coding	OTTHUMT00000400444.1	-	0.00	29	0	A			44076968	+1	tier1	-	no_errors	ENST00000537309	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.000	G
STK11	6794	genome.wustl.edu	37	19	1221309	1221310	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:1221309_1221310delTG	ENST00000326873.7	+	6	2005_2006	c.832_833delTG	c.(832-834)tgtfs	p.C278fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGGCGACTGTGGCCCCCCG	0.604		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	cervix(14)|lung(5)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)																																								SO:0001589	frameshift_variant	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.832_833delTG	19.37:g.1221311_1221312delTG	ENSP00000324856:p.Cys278fs		B2RBX7|E7EW76	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C278fs	ENST00000326873.7	37	c.832_833	CCDS45896.1	19																																																																																			STK11	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000118046		0.604	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3		0.00	74	0	TG	NM_000455		1221310	+1			no_errors	ENST00000326873	ensembl	human	known	74_37	frame_shift_del	8.70	63	6	DEL	1.000:1.000	0
STON2	85439	genome.wustl.edu	37	14	81737144	81737144	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:81737144G>A	ENST00000267540.2	-	5	2683	c.2483C>T	c.(2482-2484)gCc>gTc	p.A828V	STON2_ENST00000555447.1_Missense_Mutation_p.A828V	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	828	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)		p.A828V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CACGTGATTGGCAAATCTGGA	0.498																																																	1	Substitution - Missense(1)	prostate(1)											141.0	121.0	128.0					14																	81737144		2203	4300	6503	SO:0001583	missense	0			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2483C>T	14.37:g.81737144G>A	ENSP00000267540:p.Ala828Val		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.A828V	ENST00000267540.2	37	c.2483	CCDS9875.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.56|12.56	1.975694|1.975694	0.34848|0.34848	.|.	.|.	ENSG00000140022|ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540|ENST00000553821	T;T|.	0.19806|.	2.12;2.12|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Clathrin adaptor, mu subunit, C-terminal (3);|.	0.258233|.	0.33477|.	N|.	0.004862|.	T|T	0.25975|0.25975	0.0633|0.0633	N|N	0.04018|0.04018	-0.295|-0.295	0.39072|0.39072	D|D	0.960733|0.960733	B;B|.	0.17465|.	0.022;0.018|.	B;B|.	0.15052|.	0.012;0.011|.	T|T	0.22347|0.22347	-1.0219|-1.0219	10|5	0.16420|.	T|.	0.52|.	-27.335|-27.335	7.5807|7.5807	0.27963|0.27963	0.1938:0.0:0.8062:0.0|0.1938:0.0:0.8062:0.0	.|.	828;828|.	Q8WXE9;G3V2T7|.	STON2_HUMAN;.|.	V|S	828;840;828|36	ENSP00000450857:A828V;ENSP00000267540:A828V|.	ENSP00000267540:A828V|.	A|P	-|-	2|1	0|0	STON2|STON2	80806897|80806897	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.681000|0.681000	0.39784|0.39784	3.734000|3.734000	0.55037|0.55037	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	GCC|CCA	STON2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C	ENSG00000140022		0.498	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1		0.00	20	0	G	NM_033104		81737144	-1			no_errors	ENST00000267540	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A
NPEPL1	79716	genome.wustl.edu	37	20	57266488	57266488	+	5'Flank	DEL	A	A	-	rs180671922	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:57266488delA	ENST00000356091.6	+	0	0				STX16-NPEPL1_ENST00000530122.1_Frame_Shift_Del_p.G365fs|NPEPL1_ENST00000525817.1_Intron|NPEPL1_ENST00000525967.1_Intron	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			gaactggaggaaaaaaaaaca	0.398																																																	0																																										SO:0001631	upstream_gene_variant	0			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060		20.37:g.57266488delA	Exception_encountered		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Frame_Shift_Del	DEL	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.N368fs	ENST00000356091.6	37	c.1095	CCDS46621.1	20																																																																																			STX16-NPEPL1	-	NULL	ENSG00000254995		0.398	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX16-NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6		0.00	55	0	A	NM_024663		57266488	+1	tier1		no_errors	ENST00000530122	ensembl	human	known	74_37	frame_shift_del	15.79	48	9	DEL	0.000	-
STX4	6810	genome.wustl.edu	37	16	31044421	31044421	+	5'Flank	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:31044421C>T	ENST00000313843.3	+	0	0				STX4_ENST00000394998.1_5'UTR|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4						blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CTACCACCCACTGCCTCGAAA	0.672																																																	0																																										SO:0001631	upstream_gene_variant	0			AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404		16.37:g.31044421C>T	Exception_encountered		A8MXY0|Q15525|Q6FHE8	RNA	SNP	-	NULL	ENST00000313843.3	37	NULL	CCDS10700.1	16																																																																																			STX4	-	-	ENSG00000103496		0.672	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX4	HGNC	protein_coding	OTTHUMT00000255538.3	-	0.00	24	0	C	NM_004604		31044421	+1	tier1	-	no_errors	ENST00000493902	ensembl	human	known	74_37	rna	12.90	27	4	SNP	0.001	T
SUGT1	10910	genome.wustl.edu	37	13	53239840	53239840	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:53239840A>G	ENST00000343788.6	+	10	669	c.587A>G	c.(586-588)gAt>gGt	p.D196G	SUGT1_ENST00000535397.1_Missense_Mutation_p.D108G|SUGT1_ENST00000310528.8_Missense_Mutation_p.D164G	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	196	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		CAGAAGAATGATGTAAATGTG	0.279																																																	0													73.0	79.0	77.0					13																	53239840		2203	4289	6492	SO:0001583	missense	0			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.587A>G	13.37:g.53239840A>G	ENSP00000367208:p.Asp196Gly		A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	pfam_SGS,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D196G	ENST00000343788.6	37	c.587	CCDS45050.1	13	.	.	.	.	.	.	.	.	.	.	A	12.39	1.924420	0.34002	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T;T	0.18016	2.24;2.24;2.24	5.77	5.77	0.91146	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.345680	0.38164	N	0.001795	T	0.14614	0.0353	L	0.31294	0.92	0.34189	D	0.671874	B;B;B;B	0.15141	0.002;0.003;0.012;0.002	B;B;B;B	0.22880	0.007;0.026;0.042;0.011	T	0.16748	-1.0392	9	.	.	.	-12.5724	15.0686	0.72017	1.0:0.0:0.0:0.0	.	108;108;196;164	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	G	196;108;164	ENSP00000367208:D196G;ENSP00000443521:D108G;ENSP00000308067:D164G	.	D	+	2	0	SUGT1	52137841	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.349000	0.44054	2.207000	0.71202	0.528000	0.53228	GAT	SUGT1	-	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	ENSG00000165416		0.279	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUGT1	HGNC	protein_coding	OTTHUMT00000045104.2	-	0.00	62	0	A			53239840	+1	tier1	-	no_errors	ENST00000343788	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	G
SUPT6H	6830	genome.wustl.edu	37	17	27002426	27002426	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:27002426C>T	ENST00000314616.6	+	6	829	c.546C>T	c.(544-546)gaC>gaT	p.D182D	SUPT6H_ENST00000347486.4_Silent_p.D182D|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	182	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAGATATTGACGACTTCATTG	0.502																																																	0													98.0	92.0	94.0					17																	27002426		2203	4300	6503	SO:0001819	synonymous_variant	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.546C>T	17.37:g.27002426C>T			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D182	ENST00000314616.6	37	c.546	CCDS32596.1	17																																																																																			SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.502	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0.00	29	0	C	NM_003170		27002426	+1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	silent	24.24	25	8	SNP	0.115	T
SUPT6H	6830	genome.wustl.edu	37	17	27028124	27028124	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:27028124C>T	ENST00000314616.6	+	36	5255	c.4972C>T	c.(4972-4974)Cgg>Tgg	p.R1658W	PROCA1_ENST00000579650.1_5'Flank|SUPT6H_ENST00000347486.4_Missense_Mutation_p.R1658W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1658	Interaction with histone H2B and H3.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTCCAGCTCCCGGCAACGGCA	0.637																																																	0													89.0	86.0	87.0					17																	27028124		2203	4300	6503	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4972C>T	17.37:g.27028124C>T	ENSP00000319104:p.Arg1658Trp		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R1658W	ENST00000314616.6	37	c.4972	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627920	0.46944	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.23	1.83	0.25207	.	0.644741	0.15858	N	0.241180	T	0.34164	0.0888	L	0.36672	1.1	0.41982	D	0.990809	P	0.40931	0.733	B	0.26969	0.075	T	0.21381	-1.0247	9	0.62326	D	0.03	-3.284	9.4444	0.38688	0.5815:0.2989:0.1197:0.0	.	1658	Q7KZ85	SPT6H_HUMAN	W	1658;658	.	ENSP00000319104:R1658W	R	+	1	2	SUPT6H	24052251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.747000	0.38298	0.558000	0.29135	0.650000	0.86243	CGG	SUPT6H	-	NULL	ENSG00000109111		0.637	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0.00	45	0	C	NM_003170		27028124	+1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	41.67	28	20	SNP	0.981	T
SUSD3	203328	genome.wustl.edu	37	9	95838183	95838183	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:95838183G>T	ENST00000375472.3	+	2	242	c.206G>T	c.(205-207)gGg>gTg	p.G69V	SUSD3_ENST00000375469.1_Missense_Mutation_p.G56V	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	69	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CAGATGGTGGGGTCTGGGCTC	0.627																																																	0													105.0	87.0	93.0					9																	95838183		2203	4300	6503	SO:0001583	missense	0			AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.206G>T	9.37:g.95838183G>T	ENSP00000364621:p.Gly69Val		Q49AA6|Q6UXV7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G69V	ENST00000375472.3	37	c.206	CCDS6701.1	9	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186786	0.78789	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.73258	-0.73;-0.73	5.25	4.36	0.52297	Complement control module (2);Sushi/SCR/CCP (3);	0.108809	0.64402	D	0.000006	T	0.81725	0.4883	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.982;0.993	D	0.83514	0.0082	10	0.87932	D	0	-29.4263	11.9716	0.53067	0.0853:0.0:0.9147:0.0	.	56;69	Q96L08-2;Q96L08	.;SUSD3_HUMAN	V	69;56	ENSP00000364621:G69V;ENSP00000364618:G56V	ENSP00000364618:G56V	G	+	2	0	SUSD3	94878004	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	7.490000	0.81461	1.359000	0.45940	0.561000	0.74099	GGG	SUSD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000157303		0.627	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD3	HGNC	protein_coding	OTTHUMT00000053120.1	-	0.00	45	0	G	NM_145006		95838183	+1	tier1	-	no_errors	ENST00000375472	ensembl	human	known	74_37	missense	25.00	36	12	SNP	0.990	T
SVOPL	136306	genome.wustl.edu	37	7	138356801	138356801	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:138356801C>A	ENST00000419765.3	-	3	269	c.236G>T	c.(235-237)tGg>tTg	p.W79L	SVOPL_ENST00000421622.1_Intron	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	79						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCAGTTGCCATTCACAGCG	0.522																																																	0													251.0	192.0	209.0					7																	138356801		692	1591	2283	SO:0001583	missense	0			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.236G>T	7.37:g.138356801C>A	ENSP00000405482:p.Trp79Leu			Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.W79L	ENST00000419765.3	37	c.236	CCDS47721.1	7	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744464	0.89663	.	.	ENSG00000157703	ENST00000419765	T	0.45276	0.9	5.58	5.58	0.84498	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.	.	.	.	T	0.61085	0.2319	M	0.66939	2.045	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	T	0.56294	-0.8003	9	0.31617	T	0.26	-14.1918	16.4937	0.84209	0.0:1.0:0.0:0.0	.	79	Q8N434	SVOPL_HUMAN	L	79	ENSP00000405482:W79L	ENSP00000405482:W79L	W	-	2	0	SVOPL	138007341	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.683000	0.74533	2.633000	0.89246	0.650000	0.86243	TGG	SVOPL	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000157703		0.522	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	-	0.00	113	0	C	NM_174959		138356801	-1	tier1	-	no_errors	ENST00000419765	ensembl	human	novel	74_37	missense	21.69	65	18	SNP	1.000	A
SYCP1	6847	genome.wustl.edu	37	1	115419373	115419373	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:115419373delA	ENST00000369522.3	+	11	983	c.743delA	c.(742-744)gaafs	p.E248fs	SYCP1_ENST00000369518.1_Frame_Shift_Del_p.E248fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	248					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGATTATGAAAAAATCCAA	0.224																																																	0													20.0	21.0	21.0					1																	115419373		2100	4112	6212	SO:0001589	frameshift_variant	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.743delA	1.37:g.115419373delA	ENSP00000358535:p.Glu248fs		O14963|Q5VXJ6	Frame_Shift_Del	DEL	pfam_SCP-1	p.I250fs	ENST00000369522.3	37	c.743	CCDS879.1	1																																																																																			SYCP1	-	pfam_SCP-1	ENSG00000198765		0.224	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1		0.00	121	0	A	NM_003176		115419373	+1	tier1		no_errors	ENST00000369518	ensembl	human	known	74_37	frame_shift_del	27.27	88	33	DEL	1.000	-
SYCP3	50511	genome.wustl.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:102122901delT	ENST00000392927.3	-	8	774	c.643delA	c.(643-645)attfs	p.I215fs	SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	215	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCCATCATAATTTTTTTTTGC	0.259																																																	0			GRCh37	CD035010	SYCP3	D			,,	9,54,4181		1,0,7,9,36,2069	53.0	55.0	54.0		,,	4.2	1.0	12		55	10,59,8149		0,0,10,17,25,4057	no	codingComplex,codingComplex,codingComplex	SYCP3	NM_153694.4,NM_001177949.1,NM_001177948.1	,,	1,0,17,26,61,6126	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8396,1.4844,1.0592	,,	,,	102122901	19,113,12330	2198	4284	6482	SO:0001589	frameshift_variant	0			AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.643delA	12.37:g.102122901delT	ENSP00000376658:p.Ile215fs			Frame_Shift_Del	DEL	pfam_Cor1/Xlr/Xmr	p.I215fs	ENST00000392927.3	37	c.643	CCDS9087.1	12																																																																																			SYCP3	-	NULL	ENSG00000139351		0.259	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	SYCP3	HGNC	protein_coding	OTTHUMT00000316478.2		0.00	49	0	T	NM_153694		102122901	-1	tier1		no_errors	ENST00000266743	ensembl	human	known	74_37	frame_shift_del	11.36	39	5	DEL	0.988	-
SYDE1	85360	genome.wustl.edu	37	19	15218306	15218306	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15218306G>A	ENST00000342784.2	+	1	93	c.62G>A	c.(61-63)cGg>cAg	p.R21Q	SYDE1_ENST00000600440.1_Missense_Mutation_p.R21Q|SYDE1_ENST00000600252.1_5'Flank	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	21					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						AAACTTCCCCGGAAAAAGTCG	0.741																																																	0													5.0	6.0	5.0					19																	15218306		1975	3867	5842	SO:0001583	missense	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.62G>A	19.37:g.15218306G>A	ENSP00000341489:p.Arg21Gln		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R21Q	ENST00000342784.2	37	c.62	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.235517	0.95240	.	.	ENSG00000105137	ENST00000342784	T	0.12672	2.66	3.73	3.73	0.42828	.	0.315387	0.21020	U	0.081538	T	0.26774	0.0655	L	0.44542	1.39	0.31982	N	0.605727	D;D	0.71674	0.998;0.997	D;D	0.72982	0.979;0.953	T	0.14952	-1.0454	10	0.66056	D	0.02	.	11.0088	0.47651	0.0:0.0:1.0:0.0	.	21;21	Q6ZW31-2;Q6ZW31	.;SYDE1_HUMAN	Q	21	ENSP00000341489:R21Q	ENSP00000341489:R21Q	R	+	2	0	SYDE1	15079306	1.000000	0.71417	0.980000	0.43619	0.986000	0.74619	4.483000	0.60264	1.635000	0.50512	0.393000	0.25936	CGG	SYDE1	-	NULL	ENSG00000105137		0.741	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	-	0.00	18	0	G	NM_033025		15218306	+1	tier1	-	no_errors	ENST00000342784	ensembl	human	known	74_37	missense	33.33	10	5	SNP	1.000	A
SYDE1	85360	genome.wustl.edu	37	19	15224472	15224472	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15224472C>T	ENST00000342784.2	+	8	1937	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	SYDE1_ENST00000600440.1_Missense_Mutation_p.R569W|SYDE1_ENST00000600252.1_Missense_Mutation_p.R293W	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	636					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						AGTGGTGACTCGGCCCCGCGG	0.687																																																	0													50.0	62.0	58.0					19																	15224472		2203	4298	6501	SO:0001583	missense	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1906C>T	19.37:g.15224472C>T	ENSP00000341489:p.Arg636Trp		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R636W	ENST00000342784.2	37	c.1906	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943034	0.53079	.	.	ENSG00000105137	ENST00000342784	T	0.52983	0.64	5.52	1.94	0.25998	.	0.275476	0.30593	N	0.009294	T	0.62877	0.2464	M	0.75777	2.31	0.29480	N	0.856381	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.65010	0.931;0.804;0.931	T	0.61946	-0.6958	10	0.72032	D	0.01	.	11.1254	0.48315	0.435:0.565:0.0:0.0	.	569;569;636	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	W	636	ENSP00000341489:R636W	ENSP00000341489:R636W	R	+	1	2	SYDE1	15085472	0.125000	0.22332	0.993000	0.49108	0.173000	0.22820	1.064000	0.30579	0.660000	0.30964	0.491000	0.48974	CGG	SYDE1	-	NULL	ENSG00000105137		0.687	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	-	0.00	51	0	C	NM_033025		15224472	+1	tier1	-	no_errors	ENST00000342784	ensembl	human	known	74_37	missense	21.05	29	8	SNP	0.946	T
SYMPK	8189	genome.wustl.edu	37	19	46357678	46357678	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:46357678C>A	ENST00000245934.7	-	2	320	c.76G>T	c.(76-78)Ggc>Tgc	p.G26C		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	26	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCATCGATGCCCGGCCCCTCC	0.617																																																	0													63.0	66.0	65.0					19																	46357678		2148	4238	6386	SO:0001583	missense	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.76G>T	19.37:g.46357678C>A	ENSP00000245934:p.Gly26Cys		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.G26C	ENST00000245934.7	37	c.76	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121200	0.37436	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.35973	1.28	5.04	2.75	0.32379	Armadillo-type fold (1);	0.742041	0.13083	N	0.415165	T	0.23451	0.0567	N	0.22421	0.69	0.25144	N	0.990474	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.13548	-1.0505	10	0.41790	T	0.15	.	8.4178	0.32681	0.1522:0.7636:0.0:0.0842	.	41;26	Q4LE61;Q92797	.;SYMPK_HUMAN	C	26;30	ENSP00000245934:G26C	ENSP00000245934:G26C	G	-	1	0	SYMPK	51049518	0.950000	0.32346	0.996000	0.52242	0.906000	0.53458	2.646000	0.46630	1.342000	0.45619	0.644000	0.83932	GGC	SYMPK	-	superfamily_ARM-type_fold	ENSG00000125755		0.617	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1		0.00	29	0	C	NM_004819		46357678	-1			no_errors	ENST00000245934	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.989	A
SYNE1	23345	genome.wustl.edu	37	6	152826487	152826487	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:152826487G>A	ENST00000367255.5	-	9	1228	c.627C>T	c.(625-627)agC>agT	p.S209S	SYNE1_ENST00000367248.3_Silent_p.S216S|SYNE1_ENST00000367253.4_Silent_p.S209S|SYNE1_ENST00000423061.1_Silent_p.S216S|SYNE1_ENST00000466159.2_Silent_p.S209S|SYNE1_ENST00000265368.4_Silent_p.S209S|SYNE1_ENST00000448038.1_Silent_p.S216S|SYNE1_ENST00000413186.2_Silent_p.S209S|SYNE1_ENST00000341594.5_Silent_p.S209S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	209	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCAACCCCGCTTCTCCAAC	0.403										HNSCC(10;0.0054)																																							0													120.0	107.0	112.0					6																	152826487		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.627C>T	6.37:g.152826487G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S209	ENST00000367255.5	37	c.627	CCDS5236.2	6																																																																																			SYNE1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000131018		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	36	0	G	NM_182961		152826487	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	41.38	17	12	SNP	0.157	A
SYNE2	23224	genome.wustl.edu	37	14	64443352	64443352	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:64443352G>T	ENST00000344113.4	+	12	1412	c.1200G>T	c.(1198-1200)caG>caT	p.Q400H	SYNE2_ENST00000358025.3_Missense_Mutation_p.Q400H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q400H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	400					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTGGCTCCAGGAGGTAGAAG	0.393																																																	0													173.0	172.0	173.0					14																	64443352		1872	4102	5974	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1200G>T	14.37:g.64443352G>T	ENSP00000341781:p.Gln400His		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q400H	ENST00000344113.4	37	c.1200	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	9.794	1.178659	0.21787	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56611	0.83;0.83;0.45	5.23	3.36	0.38483	.	0.442134	0.19405	N	0.115072	T	0.33556	0.0867	N	0.25890	0.77	0.58432	D	0.999998	B;B	0.17667	0.014;0.023	B;B	0.16289	0.007;0.015	T	0.08371	-1.0725	10	0.19147	T	0.46	.	6.4023	0.21646	0.1508:0.0:0.7004:0.1487	.	400;400	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	400	ENSP00000350719:Q400H;ENSP00000341781:Q400H;ENSP00000452570:Q400H	ENSP00000261678:Q400H	Q	+	3	2	SYNE2	63513105	1.000000	0.71417	0.046000	0.18839	0.229000	0.25112	1.010000	0.29898	1.174000	0.42811	0.561000	0.74099	CAG	SYNE2	-	NULL	ENSG00000054654		0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0.00	176	0	G	NM_182914		64443352	+1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	15.79	192	36	SNP	0.745	T
SYNE2	23224	genome.wustl.edu	37	14	64465666	64465666	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:64465666C>A	ENST00000344113.4	+	27	3600	c.3388C>A	c.(3388-3390)Ctg>Atg	p.L1130M	SYNE2_ENST00000358025.3_Missense_Mutation_p.L1130M|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1130M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1130					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAACACCACCTGCAAAACAA	0.383																																																	0													125.0	118.0	120.0					14																	64465666		1867	4131	5998	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3388C>A	14.37:g.64465666C>A	ENSP00000341781:p.Leu1130Met		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L1130M	ENST00000344113.4	37	c.3388	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	6.228	0.410269	0.11812	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.76186	-0.74;-0.73;-1.0	5.32	1.98	0.26296	.	0.000000	0.42420	D	0.000708	T	0.76506	0.3997	L	0.53249	1.67	0.27667	N	0.94689	D;D	0.67145	0.994;0.996	D;D	0.69479	0.922;0.964	T	0.64424	-0.6411	10	0.24483	T	0.36	.	5.1638	0.15075	0.0:0.5803:0.1699:0.2498	.	1130;1130	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	M	1130	ENSP00000350719:L1130M;ENSP00000341781:L1130M;ENSP00000452570:L1130M	ENSP00000261678:L1130M	L	+	1	2	SYNE2	63535419	0.456000	0.25744	0.092000	0.20876	0.183000	0.23260	1.042000	0.30303	0.738000	0.32606	0.655000	0.94253	CTG	SYNE2	-	NULL	ENSG00000054654		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0.00	32	0	C	NM_182914		64465666	+1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.019	A
SYNJ2	8871	genome.wustl.edu	37	6	158508008	158508009	+	Frame_Shift_Ins	INS	-	-	C	rs531633531	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:158508008_158508009insC	ENST00000355585.4	+	23	3405_3406	c.3330_3331insC	c.(3331-3333)cccfs	p.P1111fs	SYNJ2_ENST00000367112.1_Frame_Shift_Ins_p.P196fs|SYNJ2_ENST00000367121.3_Frame_Shift_Ins_p.P1111fs|SYNJ2_ENST00000367122.2_Intron	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1111	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCCGCAGAGACCCCCCCCTCC	0.634													CCCCCCCC|CCCCCCCC|CCCCCCCCC|insertion	3	0.000599042	0.0	0.0	5008	,	,		14958	0.003		0.0	False		,,,				2504	0.0																1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3338dupC	6.37:g.158508016_158508016dupC	ENSP00000347792:p.Pro1111fs		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Ins	INS	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.P1113fs	ENST00000355585.4	37	c.3330_3331	CCDS5254.1	6																																																																																			SYNJ2	-	NULL	ENSG00000078269		0.634	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2		0.00	45	0	-			158508009	+1	tier1		no_errors	ENST00000355585	ensembl	human	known	74_37	frame_shift_ins	16.33	41	8	INS	1.000:1.000	C
SYNPO	11346	genome.wustl.edu	37	5	150028878	150028878	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:150028878C>T	ENST00000394243.1	+	3	2147	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	SYNPO_ENST00000522122.1_Silent_p.S591S|SYNPO_ENST00000519664.1_Silent_p.S347S|SYNPO_ENST00000307662.4_Silent_p.S347S	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	591					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCCAGCTCCGACCCCAAGT	0.607																																																	0													72.0	76.0	75.0					5																	150028878		2203	4300	6503	SO:0001819	synonymous_variant	0			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1773C>T	5.37:g.150028878C>T			A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	NULL	p.S591	ENST00000394243.1	37	c.1773	CCDS54937.1	5																																																																																			SYNPO	-	NULL	ENSG00000171992		0.607	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	-	0.00	34	0	C	NM_007286		150028878	+1	tier1	-	no_errors	ENST00000394243	ensembl	human	known	74_37	silent	26.09	33	12	SNP	0.015	T
SYNPO2L	79933	genome.wustl.edu	37	10	75406682	75406682	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:75406682delG	ENST00000394810.2	-	4	2877	c.2728delC	c.(2728-2730)cgafs	p.R910fs	SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.R686fs	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	910	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GTGGCTGCTCGGGGGGCAAGC	0.652																																																	0													36.0	38.0	38.0					10																	75406682		2203	4300	6503	SO:0001589	frameshift_variant	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2728delC	10.37:g.75406682delG	ENSP00000378289:p.Arg910fs		A5PKV9|Q68A20	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R910fs	ENST00000394810.2	37	c.2728	CCDS44438.1	10																																																																																			SYNPO2L	-	NULL	ENSG00000166317		0.652	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2		0.00	103	0	G	NM_024875		75406682	-1	tier1		no_errors	ENST00000394810	ensembl	human	known	74_37	frame_shift_del	13.48	77	12	DEL	0.868	-
SYT8	90019	genome.wustl.edu	37	11	1856515	1856515	+	Intron	SNP	C	C	A	rs367768006		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:1856515C>A	ENST00000381968.3	+	3	264				SYT8_ENST00000535046.1_Intron|SYT8_ENST00000436964.2_Intron|SYT8_ENST00000341958.3_Intron	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII						acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCAGCCTGGCCTCTACCCCAG	0.687																																																	0													32.0	37.0	35.0					11																	1856515		2200	4298	6498	SO:0001627	intron_variant	0			AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.137-11C>A	11.37:g.1856515C>A			A6NFJ4|Q9NSV9	Missense_Mutation	SNP	NULL	p.P34H	ENST00000381968.3	37	c.101	CCDS7726.2	11																																																																																			SYT8	-	NULL	ENSG00000149043		0.687	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT8	HGNC	protein_coding	OTTHUMT00000025013.4	-	0.00	64	0	C			1856515	+1	tier1	-	no_errors	ENST00000424556	ensembl	human	known	74_37	missense	33.33	38	19	SNP	0.000	A
SZT2	23334	genome.wustl.edu	37	1	43905341	43905341	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:43905341delC	ENST00000562955.1	+	49	6772	c.6772delC	c.(6772-6774)cccfs	p.P2259fs	SZT2_ENST00000372442.1_Frame_Shift_Del_p.P1417fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2316					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGCGTTGTGGCCCCCCTCCTC	0.607																																																	0													63.0	73.0	70.0					1																	43905341		2203	4300	6503	SO:0001589	frameshift_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6772delC	1.37:g.43905341delC	ENSP00000457168:p.Pro2259fs		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	NULL	p.S2260fs	ENST00000562955.1	37	c.6772	CCDS30694.2	1																																																																																			SZT2	-	NULL	ENSG00000198198		0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3		0.00	31	0	C	NM_015284		43905341	+1	tier1		no_errors	ENST00000562955	ensembl	human	known	74_37	frame_shift_del	11.76	30	4	DEL	0.994	-
TACC1	6867	genome.wustl.edu	37	8	38677720	38677721	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:38677720_38677721insT	ENST00000317827.4	+	3	1337_1338	c.958_959insT	c.(958-960)cttfs	p.L320fs	TACC1_ENST00000520340.1_Frame_Shift_Ins_p.L284fs|TACC1_ENST00000520615.1_Frame_Shift_Ins_p.L125fs|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000379931.3_Frame_Shift_Ins_p.L320fs|TACC1_ENST00000443286.2_Frame_Shift_Ins_p.L336fs|TACC1_ENST00000520973.1_Frame_Shift_Ins_p.L125fs|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000519416.1_Frame_Shift_Ins_p.L125fs|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000518415.1_Frame_Shift_Ins_p.L275fs	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	320	Interaction with YEATS4.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ACCTCTCAAGCTTGAGTTTGAT	0.525																																																	0																																										SO:0001589	frameshift_variant	0			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.960dupT	8.37:g.38677722_38677722dupT	ENSP00000321703:p.Leu320fs		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Frame_Shift_Ins	INS	pfam_TACC	p.E321fs	ENST00000317827.4	37	c.958_959	CCDS6109.1	8																																																																																			TACC1	-	NULL	ENSG00000147526		0.525	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1		0.00	38	0	-	NM_006283		38677721	+1	tier1		no_errors	ENST00000379931	ensembl	human	known	74_37	frame_shift_ins	11.90	37	5	INS	0.699:0.697	T
TACC3	10460	genome.wustl.edu	37	4	1730307	1730308	+	Frame_Shift_Ins	INS	-	-	C	rs201356524		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:1730307_1730308insC	ENST00000313288.4	+	4	1284_1285	c.1178_1179insC	c.(1177-1182)gaccccfs	p.DP393fs		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	393					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.M396fs*17(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCAGGAGAGGACCCCCCCATGC	0.609																																					Ovarian(120;482 2294 11894 35824)												1	Insertion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1185dupC	4.37:g.1730314_1730314dupC	ENSP00000326550:p.Asp393fs		Q2NKK4|Q3KQS5|Q9UMQ1	Frame_Shift_Ins	INS	pfam_TACC	p.M396fs	ENST00000313288.4	37	c.1178_1179	CCDS3352.1	4																																																																																			TACC3	-	NULL	ENSG00000013810		0.609	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACC3	HGNC	protein_coding	OTTHUMT00000203730.2		0.00	94	0	-			1730308	+1	tier1		no_errors	ENST00000313288	ensembl	human	known	74_37	frame_shift_ins	17.89	78	17	INS	0.001:0.000	C
TADA2B	93624	genome.wustl.edu	37	4	7056451	7056451	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:7056451G>A	ENST00000310074.7	+	2	1122	c.933G>A	c.(931-933)gcG>gcA	p.A311A	TADA2B_ENST00000515646.1_Silent_p.A219A|TADA2B_ENST00000512388.1_Silent_p.A236A	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	311					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ACGAGGCAGCGCGGCATAAAC	0.562																																																	0													54.0	64.0	61.0					4																	7056451		2034	4175	6209	SO:0001819	synonymous_variant	0			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.933G>A	4.37:g.7056451G>A			A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.A311	ENST00000310074.7	37	c.933	CCDS47007.1	4																																																																																			TADA2B	-	pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.562	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	-	0.00	21	0	G	NM_152293		7056451	+1	tier1	-	no_errors	ENST00000310074	ensembl	human	known	74_37	silent	21.74	18	5	SNP	0.005	A
TAF2	6873	genome.wustl.edu	37	8	120744196	120744196	+	Silent	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:120744196T>G	ENST00000378164.2	-	26	3866	c.3568A>C	c.(3568-3570)Agg>Cgg	p.R1190R		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1190					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGAATAGACCTGCCACTGGCA	0.423																																																	0													223.0	190.0	201.0					8																	120744196		2203	4300	6503	SO:0001819	synonymous_variant	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3568A>C	8.37:g.120744196T>G			B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.R1190	ENST00000378164.2	37	c.3568	CCDS34937.1	8																																																																																			TAF2	-	NULL	ENSG00000064313		0.423	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	-	0.00	57	0	T	NM_003184		120744196	-1	tier1	-	no_errors	ENST00000378164	ensembl	human	known	74_37	silent	36.36	35	20	SNP	1.000	G
TANC1	85461	genome.wustl.edu	37	2	160076366	160076366	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:160076366C>T	ENST00000263635.6	+	22	3903	c.3666C>T	c.(3664-3666)ggC>ggT	p.G1222G	TANC1_ENST00000454300.1_Silent_p.G1116G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1222					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTTCTATGGCGATGCCGAGA	0.557																																																	0													83.0	86.0	85.0					2																	160076366		2062	4210	6272	SO:0001819	synonymous_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3666C>T	2.37:g.160076366C>T			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.G1222	ENST00000263635.6	37	c.3666	CCDS42766.1	2																																																																																			TANC1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000115183		0.557	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1		0.00	28	0	C			160076366	+1			no_errors	ENST00000263635	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.002	T
TANC2	26115	genome.wustl.edu	37	17	61482566	61482566	+	Missense_Mutation	SNP	C	C	T	rs545352608		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:61482566C>T	ENST00000424789.2	+	18	3197	c.3193C>T	c.(3193-3195)Cgc>Tgc	p.R1065C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1065C|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1065					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCAGCCAAACCGCCGAGGAGC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17034	0.0		0.0	False		,,,				2504	0.001																0													20.0	23.0	22.0					17																	61482566		2007	4157	6164	SO:0001583	missense	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3193C>T	17.37:g.61482566C>T	ENSP00000387593:p.Arg1065Cys		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R1065C	ENST00000424789.2	37	c.3193	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793020	0.70452	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.16196	2.36;2.36	5.33	5.33	0.75918	Ankyrin repeat-containing domain (3);	0.050353	0.85682	D	0.000000	T	0.38026	0.1025	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.975;0.993	T	0.09596	-1.0667	10	0.87932	D	0	.	12.6849	0.56942	0.2885:0.7115:0.0:0.0	.	1065;1065	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	C	1065	ENSP00000374171:R1065C;ENSP00000387593:R1065C	ENSP00000374171:R1065C	R	+	1	0	TANC2	58836298	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.418000	0.44662	2.507000	0.84556	0.655000	0.94253	CGC	TANC2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170921		0.612	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1		0.00	19	0	C			61482566	+1			no_errors	ENST00000424789	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T
TANGO6	79613	genome.wustl.edu	37	16	68894134	68894134	+	Missense_Mutation	SNP	G	G	A	rs201171315		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:68894134G>A	ENST00000261778.1	+	2	454	c.442G>A	c.(442-444)Gtt>Att	p.V148I		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	148						integral component of membrane (GO:0016021)											TGTCCAGTTCGTTTTGCAGTT	0.478																																																	0													219.0	205.0	210.0					16																	68894134		1968	4172	6140	SO:0001583	missense	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.442G>A	16.37:g.68894134G>A	ENSP00000261778:p.Val148Ile		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.V148I	ENST00000261778.1	37	c.442	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354288	0.24512	.	.	ENSG00000103047	ENST00000261778	T	0.68903	-0.36	5.23	4.27	0.50696	.	.	.	.	.	T	0.57695	0.2071	L	0.50333	1.59	0.09310	N	1	B	0.31790	0.34	B	0.22152	0.038	T	0.44003	-0.9356	9	0.27785	T	0.31	-0.2268	12.91	0.58175	0.0802:0.0:0.9198:0.0	.	148	Q9C0B7	TMCO7_HUMAN	I	148	ENSP00000261778:V148I	ENSP00000261778:V148I	V	+	1	0	TMCO7	67451635	0.861000	0.29849	0.005000	0.12908	0.538000	0.34931	5.037000	0.64170	1.208000	0.43306	-0.291000	0.09656	GTT	TANGO6	-	NULL	ENSG00000103047		0.478	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	HGNC	protein_coding	OTTHUMT00000433471.2	-	0.00	47	0	G	XM_928235.2		68894134	+1	tier1	rs201171315	no_errors	ENST00000261778	ensembl	human	known	74_37	missense	13.64	57	9	SNP	0.057	A
TARS	6897	genome.wustl.edu	37	5	33448779	33448779	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:33448779A>G	ENST00000265112.3	+	3	582	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	TARS_ENST00000414361.2_Silent_p.V23V|TARS_ENST00000455217.2_Missense_Mutation_p.K91E|TARS_ENST00000502553.1_Missense_Mutation_p.K91E|TARS_ENST00000541634.1_Intron	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	91					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GCCTGATGGTAAACAGGTTGA	0.383																																																	0													147.0	134.0	139.0					5																	33448779		2203	4300	6503	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.271A>G	5.37:g.33448779A>G	ENSP00000265112:p.Lys91Glu		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.K91E	ENST00000265112.3	37	c.271	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589521	0.66105	.	.	ENSG00000113407	ENST00000502553;ENST00000514259;ENST00000265112;ENST00000455217;ENST00000506040	T;T;T;T	0.50277	0.91;0.75;0.91;0.79	5.94	5.94	0.96194	TGS-like (1);TGS (1);Beta-grasp fold, ferredoxin-type (1);	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.86097	2.795	0.80722	D	1	B;B	0.20368	0.044;0.025	B;B	0.26770	0.039;0.073	T	0.55405	-0.8146	10	0.35671	T	0.21	-32.4149	16.4415	0.83901	1.0:0.0:0.0:0.0	.	91;91	B4DEG8;P26639	.;SYTC_HUMAN	E	91;91;91;91;32	ENSP00000424387:K91E;ENSP00000422130:K91E;ENSP00000265112:K91E;ENSP00000387710:K91E	ENSP00000265112:K91E	K	+	1	0	TARS	33484536	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	7.125000	0.77193	2.285000	0.76669	0.477000	0.44152	AAA	TARS	-	pfam_TGS,superfamily_TGS-like	ENSG00000113407		0.383	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	-	0.00	29	0	A	NM_152295		33448779	+1	tier1	-	no_errors	ENST00000265112	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	G
TAS2R41	259287	genome.wustl.edu	37	7	143175407	143175407	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:143175407delT	ENST00000408916.1	+	1	442	c.442delT	c.(442-444)tttfs	p.F149fs	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	149					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AACCCTGCTGTTTTTTTGGGT	0.443																																																	0													49.0	49.0	49.0					7																	143175407		1859	4105	5964	SO:0001589	frameshift_variant	0			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.442delT	7.37:g.143175407delT	ENSP00000386201:p.Phe149fs		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Frame_Shift_Del	DEL	pfam_TAS2_rcpt	p.W150fs	ENST00000408916.1	37	c.442	CCDS43663.1	7																																																																																			TAS2R41	-	pfam_TAS2_rcpt	ENSG00000221855		0.443	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R41	HGNC	protein_coding	OTTHUMT00000342149.1		0.00	39	0	T			143175407	+1	tier1		no_errors	ENST00000408916	ensembl	human	known	74_37	frame_shift_del	15.69	43	8	DEL	0.499	-
TBC1D1	23216	genome.wustl.edu	37	4	38020002	38020002	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:38020002A>G	ENST00000261439.4	+	4	1265	c.910A>G	c.(910-912)Agt>Ggt	p.S304G	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S304G	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	304	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTACCTCATCAGTCCTGACAC	0.313																																																	0													71.0	75.0	74.0					4																	38020002		2203	4298	6501	SO:0001583	missense	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.910A>G	4.37:g.38020002A>G	ENSP00000261439:p.Ser304Gly		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.S304G	ENST00000261439.4	37	c.910	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	A	28.6	4.932954	0.92458	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.15139	2.45;2.45;2.45	5.86	5.86	0.93980	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000003	T	0.46210	0.1381	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.49390	-0.8945	10	0.87932	D	0	-18.2502	16.2526	0.82494	1.0:0.0:0.0:0.0	.	304;304;304	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	G	304;304;175	ENSP00000423651:S304G;ENSP00000261439:S304G;ENSP00000396877:S175G	ENSP00000261439:S304G	S	+	1	0	TBC1D1	37696397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.223000	0.95203	2.241000	0.73720	0.482000	0.46254	AGT	TBC1D1	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000065882		0.313	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	-	0.00	41	0	A	NM_015173		38020002	+1	tier1	-	no_errors	ENST00000261439	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	G
TBC1D20	128637	genome.wustl.edu	37	20	416262	416262	+	3'UTR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:416262C>T	ENST00000354200.4	-	0	4327				TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20						acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				agtgggggtgcgccaccctct	0.542																																																	0													44.0	47.0	46.0					20																	416262		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.*2968G>A	20.37:g.416262C>T			A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	RNA	SNP	-	NULL	ENST00000354200.4	37	NULL	CCDS13002.1	20																																																																																			TBC1D20	-	-	ENSG00000125875		0.542	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D20	HGNC	protein_coding	OTTHUMT00000251397.2	-	0.00	17	0	C	NM_144628		416262	-1	tier1	-	no_errors	ENST00000461188	ensembl	human	known	74_37	rna	22.22	14	4	SNP	0.000	T
TBC1D20	128637	genome.wustl.edu	37	20	418035	418035	+	3'UTR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:418035delT	ENST00000354200.4	-	0	2554				TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20						acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CAAAAGGCACTTTTTTTTTCA	0.448																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.*1195A>-	20.37:g.418035delT			A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	RNA	DEL	-	NULL	ENST00000354200.4	37	NULL	CCDS13002.1	20																																																																																			TBC1D20	-	-	ENSG00000125875		0.448	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D20	HGNC	protein_coding	OTTHUMT00000251397.2		0.00	56	0	T	NM_144628		418035	-1	tier1		no_errors	ENST00000461188	ensembl	human	known	74_37	rna	22.81	44	13	DEL	1.000	-
TBC1D20	128637	genome.wustl.edu	37	20	418551	418551	+	3'UTR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:418551delA	ENST00000354200.4	-	0	2038				TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20						acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AGCAGGGAGGAAAAAAAGGCA	0.388																																																	0													21.0	18.0	19.0					20																	418551		692	1589	2281	SO:0001624	3_prime_UTR_variant	0			AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.*679T>-	20.37:g.418551delA			A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	RNA	DEL	-	NULL	ENST00000354200.4	37	NULL	CCDS13002.1	20																																																																																			TBC1D20	-	-	ENSG00000125875		0.388	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D20	HGNC	protein_coding	OTTHUMT00000251397.2		0.00	28	0	A	NM_144628		418551	-1	tier1		no_errors	ENST00000461188	ensembl	human	known	74_37	rna	12.90	27	4	DEL	0.000	-
TBC1D21	161514	genome.wustl.edu	37	15	74174063	74174063	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:74174063C>T	ENST00000300504.2	+	3	330	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	TBC1D21_ENST00000562056.1_Missense_Mutation_p.R83W|TBC1D21_ENST00000535547.2_Missense_Mutation_p.R47W	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	83	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCAGGATGAGCGGCTCACGGT	0.642																																																	0													51.0	49.0	50.0					15																	74174063		2198	4297	6495	SO:0001583	missense	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.247C>T	15.37:g.74174063C>T	ENSP00000300504:p.Arg83Trp		B9A6M2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R83W	ENST00000300504.2	37	c.247	CCDS10252.1	15	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721574	0.68959	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.05081	3.5;3.5	4.92	2.88	0.33553	Rab-GAP/TBC domain (4);	0.000000	0.41500	D	0.000876	T	0.14527	0.0351	L	0.42245	1.32	0.35459	D	0.796394	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.08432	-1.0722	10	0.87932	D	0	.	7.4433	0.27196	0.1913:0.6238:0.1849:0.0	.	47;83	B9A6M2;Q8IYX1	.;TBC21_HUMAN	W	83;47	ENSP00000300504:R83W;ENSP00000439325:R47W	ENSP00000300504:R83W	R	+	1	2	TBC1D21	71961116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.103000	0.31062	1.049000	0.40321	0.563000	0.77884	CGG	TBC1D21	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167139		0.642	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	-	0.00	36	0	C	NM_153356		74174063	+1	tier1	-	no_errors	ENST00000300504	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	T
TBC1D23	55773	genome.wustl.edu	37	3	100014178	100014180	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:100014178_100014180delAAG	ENST00000394144.4	+	7	765_767	c.758_760delAAG	c.(757-762)aaagaa>aaa	p.E255del	TBC1D23_ENST00000475134.1_In_Frame_Del_p.E118del|TBC1D23_ENST00000344949.5_In_Frame_Del_p.E255del|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	255					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.E255del(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCAGACAGCAAAGAAGAAGTTAT	0.31																																																	1	Deletion - In frame(1)	liver(1)																																								SO:0001651	inframe_deletion	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.758_760delAAG	3.37:g.100014184_100014186delAAG	ENSP00000377700:p.Glu255del		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	In_Frame_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom	p.E255in_frame_del	ENST00000394144.4	37	c.758_760	CCDS56265.1	3																																																																																			TBC1D23	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000036054		0.310	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1		0.00	49	0	AAG	NM_018309		100014180	+1	tier1		no_errors	ENST00000394144	ensembl	human	known	74_37	in_frame_del	13.11	53	8	DEL	1.000:1.000:1.000	-
TBC1D32	221322	genome.wustl.edu	37	6	121563364	121563364	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:121563364A>G	ENST00000398212.2	-	18	2189	c.2140T>C	c.(2140-2142)Tat>Cat	p.Y714H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.Y714H	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	714					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TTTTTTGCATATCGATTGAAT	0.338																																																	0													96.0	90.0	92.0					6																	121563364		1831	4091	5922	SO:0001583	missense	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2140T>C	6.37:g.121563364A>G	ENSP00000381270:p.Tyr714His		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.Y714H	ENST00000398212.2	37	c.2140	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627226	0.66901	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.22336	1.96;1.96	5.0	5.0	0.66597	.	0.217066	0.38778	N	0.001573	T	0.34483	0.0899	M	0.64997	1.995	0.39326	D	0.965321	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.971	T	0.18935	-1.0321	10	0.72032	D	0.01	.	14.6496	0.68786	1.0:0.0:0.0:0.0	.	714;714	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	H	714	ENSP00000275159:Y714H;ENSP00000381270:Y714H	ENSP00000275159:Y714H	Y	-	1	0	C6orf170	121605063	1.000000	0.71417	0.936000	0.37596	0.802000	0.45316	8.161000	0.89655	2.016000	0.59253	0.477000	0.44152	TAT	TBC1D32	-	NULL	ENSG00000146350		0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	-	0.00	38	0	A	NM_152730		121563364	-1	tier1	-	no_errors	ENST00000275159	ensembl	human	putative	74_37	missense	20.00	36	9	SNP	0.995	G
LOC101927755	101927755	genome.wustl.edu	37	17	58066626	58066626	+	lincRNA	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:58066626T>C	ENST00000586209.1	+	0	158																											TTTTTTTACCTGTCAATAGCA	0.299																																																	0																																												0																															17.37:g.58066626T>C				RNA	SNP	-	NULL	ENST00000586209.1	37	NULL		17																																																																																			TBC1D3P1-DHX40P1	-	-	ENSG00000267104		0.299	RP11-178C3.2-001	KNOWN	basic	lincRNA	TBC1D3P1-DHX40P1	HGNC	lincRNA	OTTHUMT00000449162.1	-	0.00	40	0	T			58066626	-1	tier1	-	no_errors	ENST00000587125	ensembl	human	known	74_37	rna	9.52	57	6	SNP	1.000	C
LOC101927755	101927755	genome.wustl.edu	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																																	0																																												0																															17.37:g.58066651C>T				RNA	SNP	-	NULL	ENST00000586209.1	37	NULL		17																																																																																			TBC1D3P1-DHX40P1	-	-	ENSG00000267104		0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	TBC1D3P1-DHX40P1	HGNC	lincRNA	OTTHUMT00000449162.1	-	0.00	54	0	C			58066651	-1	tier1	-	no_errors	ENST00000587125	ensembl	human	known	74_37	rna	8.00	69	6	SNP	1.000	T
TBC1D5	9779	genome.wustl.edu	37	3	17208335	17208335	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:17208335T>C	ENST00000253692.7	-	21	3682	c.2018A>G	c.(2017-2019)aAc>aGc	p.N673S	TBC1D5_ENST00000429383.4_Missense_Mutation_p.N673S|TBC1D5_ENST00000446818.2_Missense_Mutation_p.N695S|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	673						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GCAGTAGTGGTTGTCCGCAAT	0.507																																																	0													95.0	86.0	89.0					3																	17208335		2203	4300	6503	SO:0001583	missense	0			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2018A>G	3.37:g.17208335T>C	ENSP00000253692:p.Asn673Ser		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.N673S	ENST00000253692.7	37	c.2018	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	T	18.42	3.620440	0.66787	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818	T;T;T	0.37752	1.18;1.18;1.18	5.09	5.09	0.68999	.	0.100557	0.64402	D	0.000003	T	0.24774	0.0601	N	0.14661	0.345	0.80722	D	1	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.10450	0.005;0.0;0.0	T	0.03887	-1.0995	10	0.42905	T	0.14	-11.3017	15.1719	0.72881	0.0:0.0:0.0:1.0	.	695;673;673	C9JP52;B9A6K1;Q92609	.;.;TBCD5_HUMAN	S	673;673;695	ENSP00000253692:N673S;ENSP00000398127:N673S;ENSP00000402935:N695S	ENSP00000253692:N673S	N	-	2	0	TBC1D5	17183339	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	7.460000	0.80816	2.040000	0.60383	0.459000	0.35465	AAC	TBC1D5	-	NULL	ENSG00000131374		0.507	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	-	0.00	79	0	T	NM_014744		17208335	-1	tier1	-	no_errors	ENST00000253692	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	C
TBC1D8	11138	genome.wustl.edu	37	2	101667040	101667040	+	Missense_Mutation	SNP	G	G	A	rs533724239		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:101667040G>A	ENST00000376840.4	-	5	649	c.650C>T	c.(649-651)aCg>aTg	p.T217M	TBC1D8_ENST00000409318.1_Missense_Mutation_p.T232M			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	217					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GATGGTATCCGTCAGAAAGAC	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21954	0.0		0.0	False		,,,				2504	0.0																0													86.0	88.0	88.0					2																	101667040		1996	4154	6150	SO:0001583	missense	0			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.650C>T	2.37:g.101667040G>A	ENSP00000366036:p.Thr217Met		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T232M	ENST00000376840.4	37	c.695	CCDS46375.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765523	0.90020	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03358	3.96;3.96	5.37	5.37	0.77165	.	.	.	.	.	T	0.14960	0.0361	L	0.52573	1.65	0.46241	D	0.998949	D;D	0.89917	0.989;1.0	P;D	0.70716	0.719;0.97	T	0.00196	-1.1931	9	0.72032	D	0.01	-11.7033	19.1192	0.93355	0.0:0.0:1.0:0.0	.	232;217	B7Z6L4;O95759	.;TBCD8_HUMAN	M	217;232	ENSP00000366036:T217M;ENSP00000386856:T232M	ENSP00000366036:T217M	T	-	2	0	TBC1D8	101033472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.701000	0.98710	2.511000	0.84671	0.561000	0.74099	ACG	TBC1D8	-	NULL	ENSG00000204634		0.458	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1	-	0.00	57	0	G	NM_007063		101667040	-1	tier1	-	no_errors	ENST00000409318	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	A
TBC1D9B	23061	genome.wustl.edu	37	5	179292737	179292737	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:179292737C>T	ENST00000356834.3	-	20	3003				TBC1D9B_ENST00000519746.1_Intron|TBC1D9B_ENST00000444477.2_Intron|TBC1D9B_ENST00000355235.3_Intron|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)							integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCCATCTCCCGGGGTAGGGG	0.662																																																	0																																										SO:0001627	intron_variant	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2965+100G>A	5.37:g.179292737C>T			D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	RNA	SNP	-	NULL	ENST00000356834.3	37	NULL	CCDS43408.1	5																																																																																			TBC1D9B	-	-	ENSG00000197226		0.662	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	-	0.00	45	0	C	NM_015043		179292737	-1	tier1	-	no_errors	ENST00000518085	ensembl	human	putative	74_37	rna	31.03	40	18	SNP	0.000	T
TBK1	29110	genome.wustl.edu	37	12	64868147	64868147	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:64868147G>T	ENST00000331710.5	+	6	1017	c.678G>T	c.(676-678)ggG>ggT	p.G226G		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CCTTTGAAGGGCCTCGTAGGA	0.388																																																	0													138.0	136.0	137.0					12																	64868147		2203	4300	6503	SO:0001819	synonymous_variant	0			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.678G>T	12.37:g.64868147G>T			A8K4S4|Q8IYV3|Q9NUJ5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G226	ENST00000331710.5	37	c.678	CCDS8968.1	12																																																																																			TBK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000183735		0.388	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	HGNC	protein_coding	OTTHUMT00000401130.1	-	0.00	59	0	G	NM_013254		64868147	+1	tier1	-	no_errors	ENST00000331710	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.999	T
TBL1XR1	79718	genome.wustl.edu	37	3	176743311	176743311	+	Splice_Site	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:176743311A>C	ENST00000430069.1	-	16	1779	c.1520T>G	c.(1519-1521)gTt>gGt	p.V507G	TBL1XR1_ENST00000457928.2_Splice_Site_p.V507G			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	507					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TAATACACAAACCTGTAAGAA	0.343																																																	0													66.0	61.0	63.0					3																	176743311		1824	4079	5903	SO:0001630	splice_region_variant	0			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1519-1T>G	3.37:g.176743311A>C			D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V507G	ENST00000430069.1	37	c.1520	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	A	16.21	3.060088	0.55432	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	D;D	0.84944	-1.92;-1.92	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	D	0.92993	0.7770	M	0.86420	2.815	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.94094	0.7356	9	0.87932	D	0	-7.0861	15.2873	0.73838	1.0:0.0:0.0:0.0	.	507	Q9BZK7	TBL1R_HUMAN	G	507;507;369	ENSP00000405574:V507G;ENSP00000413251:V507G	ENSP00000405574:V507G	V	-	2	0	TBL1XR1	178226005	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.910000	0.92685	2.255000	0.74692	0.533000	0.62120	GTT	TBL1XR1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000177565		0.343	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3		0.00	31	0	A	NM_024665	Missense_Mutation	176743311	-1			no_errors	ENST00000430069	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	C
TCEAL2	140597	genome.wustl.edu	37	X	101381878	101381878	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:101381878C>A	ENST00000372780.1	+	3	295	c.76C>A	c.(76-78)Cac>Aac	p.H26N	TCEAL2_ENST00000329035.2_Missense_Mutation_p.H26N	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ACAGCCACCGCACGAGGGAAA	0.428																																																	0													111.0	102.0	105.0					X																	101381878		2203	4300	6503	SO:0001583	missense	0			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.76C>A	X.37:g.101381878C>A	ENSP00000361866:p.His26Asn		B2R5C7	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.H26N	ENST00000372780.1	37	c.76	CCDS14496.1	X	.	.	.	.	.	.	.	.	.	.	G	4.641	0.119232	0.08881	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.19806	2.12;2.12	2.57	-2.05	0.07321	.	0.816025	0.10606	N	0.655056	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34900	-0.9810	10	0.21014	T	0.42	.	1.7075	0.02885	0.1481:0.4109:0.2557:0.1853	.	26	Q9H3H9	TCAL2_HUMAN	N	26	ENSP00000361866:H26N;ENSP00000332359:H26N	ENSP00000332359:H26N	H	+	1	0	TCEAL2	101268534	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.227000	0.09126	-0.684000	0.05183	-1.329000	0.01275	CAC	TCEAL2	-	NULL	ENSG00000184905		0.428	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL2	HGNC	protein_coding	OTTHUMT00000057605.1	-	0.00	61	0	C	NM_080390		101381878	+1	tier1	-	no_errors	ENST00000329035	ensembl	human	known	74_37	missense	48.00	13	12	SNP	0.000	A
TCERG1	10915	genome.wustl.edu	37	5	145883589	145883589	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:145883589delT	ENST00000296702.5	+	18	2768				TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Intron	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCTTTTACTTTTTTTCTCT	0.303																																																	0													49.0	49.0	49.0					5																	145883589		2203	4300	6503	SO:0001627	intron_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2730+20T>-	5.37:g.145883589delT			Q2NKN2|Q59EA1	RNA	DEL	-	NULL	ENST00000296702.5	37	NULL	CCDS4282.1	5																																																																																			TCERG1	-	-	ENSG00000113649		0.303	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1		0.00	42	0	T	NM_001040006		145883589	+1	tier1		no_errors	ENST00000509787	ensembl	human	known	74_37	rna	9.38	29	3	DEL	0.000	-
TCF12	6938	genome.wustl.edu	37	15	57565313	57565313	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:57565313C>T	ENST00000267811.5	+	18	2063	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C	TCF12_ENST00000333725.5_Missense_Mutation_p.R611C|TCF12_ENST00000557843.1_Missense_Mutation_p.R587C|TCF12_ENST00000452095.2_Missense_Mutation_p.R607C|TCF12_ENST00000438423.2_Missense_Mutation_p.R611C|TCF12_ENST00000343827.3_Missense_Mutation_p.R417C|TCF12_ENST00000559703.1_Missense_Mutation_p.R244C|TCF12_ENST00000559710.1_Missense_Mutation_p.R221C|TCF12_ENST00000543579.1_Missense_Mutation_p.R441C|TCF12_ENST00000537840.1_Missense_Mutation_p.R351C	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	587	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TGCCAGAGAACGCTTACGCGT	0.423			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0													96.0	103.0	101.0					15																	57565313		2192	4292	6484	SO:0001583	missense	0			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1759C>T	15.37:g.57565313C>T	ENSP00000267811:p.Arg587Cys		Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R611C	ENST00000267811.5	37	c.1831	CCDS10159.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619496	0.87460	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	D;D;D;D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37;-5.37;-5.37;-5.37	4.72	4.72	0.59763	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.995;0.999;0.999;0.992;0.999;0.998;0.996;0.996;0.994	D	0.98391	1.0563	10	0.87932	D	0	-26.8671	18.0262	0.89270	0.0:1.0:0.0:0.0	.	607;221;441;351;607;639;441;417;587;611	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	C	639;587;611;607;611;441;351;417;199	ENSP00000267811:R587C;ENSP00000388940:R611C;ENSP00000396881:R607C;ENSP00000331057:R611C;ENSP00000440017:R441C;ENSP00000444696:R351C;ENSP00000342459:R417C	ENSP00000267811:R587C	R	+	1	0	TCF12	55352605	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.816000	0.69222	2.329000	0.79093	0.655000	0.94253	CGC	TCF12	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000140262		0.423	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3	-	0.00	52	0	C	NM_003205		57565313	+1	tier1	-	no_errors	ENST00000438423	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	T
TCF20	6942	genome.wustl.edu	37	22	42564716	42564716	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:42564716delG	ENST00000359486.3	-	4	5962	c.5826delC	c.(5824-5826)cccfs	p.P1942fs	TCF20_ENST00000404876.1_Intron|TCF20_ENST00000335626.4_Intron	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1942					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGTTCTGCAAGGGGGGGAGAG	0.617											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36.0	35.0	35.0					22																	42564716		2203	4300	6503	SO:0001589	frameshift_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5826delC	22.37:g.42564716delG	ENSP00000352463:p.Pro1942fs	909	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Del	DEL	smart_Znf_PHD	p.L1943fs	ENST00000359486.3	37	c.5826	CCDS14033.1	22																																																																																			TCF20	-	NULL	ENSG00000100207		0.617	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1		0.00	51	0	G	NM_181492		42564716	-1	tier1		no_errors	ENST00000359486	ensembl	human	known	74_37	frame_shift_del	16.07	47	9	DEL	1.000	-
TCF25	22980	genome.wustl.edu	37	16	89951020	89951020	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:89951020delA	ENST00000263346.8	+	3	441	c.385delA	c.(385-387)aaafs	p.K131fs	TCF25_ENST00000563406.1_3'UTR|TCF25_ENST00000263347.7_5'Flank	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	131					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CCGGAAGAAGAAAAAAAAACA	0.448																																																	0													89.0	76.0	80.0					16																	89951020		2198	4300	6498	SO:0001589	frameshift_variant	0			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.385delA	16.37:g.89951020delA	ENSP00000263346:p.Lys131fs		Q2MK75|Q9UPV3	Frame_Shift_Del	DEL	pfam_TCF25	p.K131fs	ENST00000263346.8	37	c.385	CCDS10987.1	16																																																																																			TCF25	-	NULL	ENSG00000141002		0.448	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2		0.00	45	0	A	NM_014972		89951020	+1	tier1		no_errors	ENST00000263346	ensembl	human	known	74_37	frame_shift_del	26.67	33	12	DEL	1.000	-
TCF4	6925	genome.wustl.edu	37	18	53302976	53302976	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:53302976C>A	ENST00000398339.1	-	1	209	c.153G>T	c.(151-153)tgG>tgT	p.W51C		NM_001243226.1	NP_001230155.1	P15884	ITF2_HUMAN	transcription factor 4	0	Essential for MYOD1 inhibition. {ECO:0000250}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		agttctcaacccaagtgcatg	0.418																																																	0													3.0	2.0	2.0					18																	53302976		748	1653	2401	SO:0001583	missense	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000398339.1:c.153G>T	18.37:g.53302976C>A	ENSP00000381382:p.Trp51Cys		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.W51C	ENST00000398339.1	37	c.153	CCDS58631.1	18	.	.	.	.	.	.	.	.	.	.	C	4.907	0.168500	0.09339	.	.	ENSG00000196628	ENST00000398339	T	0.29142	1.58	2.51	-0.201	0.13212	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21827	-1.0234	8	0.45353	T	0.12	.	4.7924	0.13256	0.0:0.5264:0.0:0.4736	.	51	E9PH57	.	C	51	ENSP00000381382:W51C	ENSP00000381382:W51C	W	-	3	0	TCF4	51453974	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.085000	0.11250	-0.058000	0.13177	0.508000	0.49915	TGG	TCF4	-	NULL	ENSG00000196628		0.418	TCF4-004	KNOWN	basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256013.1	-	0.00	43	0	C	NM_003199		53302976	-1	tier1	-	no_errors	ENST00000398339	ensembl	human	known	74_37	missense	33.33	22	11	SNP	0.000	A
TCHH	7062	genome.wustl.edu	37	1	152080543	152080543	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:152080543C>T	ENST00000368804.1	-	2	5149	c.5150G>A	c.(5149-5151)cGc>cAc	p.R1717H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1717	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R1717L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTGGCGGCGCAGCTGCTG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											52.0	53.0	53.0					1																	152080543		1870	4109	5979	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5150G>A	1.37:g.152080543C>T	ENSP00000357794:p.Arg1717His		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R1717H	ENST00000368804.1	37	c.5150	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249948	0.22880	.	.	ENSG00000159450	ENST00000368804	T	0.10288	2.89	4.49	-4.1	0.03940	.	.	.	.	.	T	0.03178	0.0093	M	0.71036	2.16	0.09310	N	1	B	0.29508	0.246	B	0.15052	0.012	T	0.38156	-0.9674	9	0.44086	T	0.13	-0.1337	5.0576	0.14540	0.5439:0.1981:0.0:0.258	.	1717	Q07283	TRHY_HUMAN	H	1717	ENSP00000357794:R1717H	ENSP00000357794:R1717H	R	-	2	0	TCHH	150347167	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.112000	0.10791	-0.414000	0.07495	-0.554000	0.04202	CGC	TCHH	-	NULL	ENSG00000159450		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0.00	65	0	C	NM_007113		152080543	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T
TCHH	7062	genome.wustl.edu	37	1	152085240	152085241	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:152085240_152085241insC	ENST00000368804.1	-	2	451_452	c.452_453insG	c.(451-453)ggafs	p.G151fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	151					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGCTCCTCTCCCTCAGCTAG	0.589																																																	0																																										SO:0001589	frameshift_variant	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.453dupG	1.37:g.152085243_152085243dupC	ENSP00000357794:p.Gly151fs		Q5VUI3	Frame_Shift_Ins	INS	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.E152fs	ENST00000368804.1	37	c.453_452	CCDS41396.1	1																																																																																			TCHH	-	NULL	ENSG00000159450		0.589	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2		0.00	35	0	-	NM_007113		152085241	-1	tier1		no_errors	ENST00000368804	ensembl	human	known	74_37	frame_shift_ins	11.11	32	4	INS	0.002:0.019	C
TCN2	6948	genome.wustl.edu	37	22	31006966	31006966	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:31006966T>C	ENST00000215838.3	+	2	667	c.173T>C	c.(172-174)cTa>cCa	p.L58P	TCN2_ENST00000407817.3_Missense_Mutation_p.L58P|TCN2_ENST00000405742.3_Missense_Mutation_p.L58P			P20062	TCO2_HUMAN	transcobalamin II	58					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATGTGGGCCTACGCCTCTCC	0.572																																																	0													200.0	184.0	189.0					22																	31006966		2203	4300	6503	SO:0001583	missense	0				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.173T>C	22.37:g.31006966T>C	ENSP00000215838:p.Leu58Pro		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.L58P	ENST00000215838.3	37	c.173	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	T	24.2	4.500640	0.85176	.	.	ENSG00000185339	ENST00000215838;ENST00000423350;ENST00000405742;ENST00000407817	T;T;T;T	0.60040	0.73;0.73;0.73;0.22	6.16	6.16	0.99307	.	0.063352	0.64402	D	0.000005	T	0.77164	0.4090	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	T	0.80221	-0.1472	10	0.87932	D	0	-14.0481	14.3293	0.66545	0.0:0.0:0.0:1.0	.	58;58;58	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	P	58	ENSP00000215838:L58P;ENSP00000411529:L58P;ENSP00000385914:L58P;ENSP00000384914:L58P	ENSP00000215838:L58P	L	+	2	0	TCN2	29336966	0.974000	0.33945	1.000000	0.80357	0.947000	0.59692	4.597000	0.61062	2.367000	0.80283	0.528000	0.53228	CTA	TCN2	-	pfam_Cbl-bd_transpt_euk	ENSG00000185339		0.572	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2	-	0.00	91	0	T	NM_000355		31006966	+1	tier1	-	no_errors	ENST00000215838	ensembl	human	known	74_37	missense	28.57	65	26	SNP	1.000	C
TCP1	6950	genome.wustl.edu	37	6	160202059	160202059	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:160202059T>A	ENST00000321394.7	-	8	1161	c.881A>T	c.(880-882)gAt>gTt	p.D294V	TCP1_ENST00000392168.2_Missense_Mutation_p.D139V|TCP1_ENST00000420894.2_Missense_Mutation_p.D294V|TCP1_ENST00000544255.1_Missense_Mutation_p.D70V|SNORA20_ENST00000384662.1_RNA	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	294					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CAGACACATATCATCAATTCC	0.408																																																	0													152.0	150.0	151.0					6																	160202059		2203	4300	6503	SO:0001583	missense	0			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.881A>T	6.37:g.160202059T>A	ENSP00000317334:p.Asp294Val		E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_alpha	p.D294V	ENST00000321394.7	37	c.881	CCDS5269.1	6	.	.	.	.	.	.	.	.	.	.	T	30	5.053296	0.93793	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000420894;ENST00000392168;ENST00000539756	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.89026	0.6598	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.982;0.994	D	0.93042	0.6458	10	0.87932	D	0	-28.9536	16.3275	0.82990	0.0:0.0:0.0:1.0	.	294;294	E7ERF2;P17987	.;TCPA_HUMAN	V	294;70;294;139;92	ENSP00000317334:D294V;ENSP00000439447:D70V;ENSP00000390159:D294V;ENSP00000376008:D139V;ENSP00000441345:D92V	ENSP00000317334:D294V	D	-	2	0	TCP1	160122049	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.472000	0.80996	2.266000	0.75297	0.528000	0.53228	GAT	TCP1	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_alpha	ENSG00000120438		0.408	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP1	HGNC	protein_coding	OTTHUMT00000042917.2	-	0.00	61	0	T	NM_030752		160202059	-1	tier1	-	no_errors	ENST00000321394	ensembl	human	known	74_37	missense	10.34	52	6	SNP	1.000	A
TCTN1	79600	genome.wustl.edu	37	12	111085086	111085086	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:111085086C>A	ENST00000551590.1	+	13	1721	c.1565C>A	c.(1564-1566)cCa>cAa	p.P522Q	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Missense_Mutation_p.P527Q|TCTN1_ENST00000397655.3_Missense_Mutation_p.P508Q|TCTN1_ENST00000377654.3_3'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	522					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CTGCTGAATCCACAGGCCAAA	0.423																																																	0													136.0	120.0	125.0					12																	111085086		1865	4095	5960	SO:0001583	missense	0			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1565C>A	12.37:g.111085086C>A	ENSP00000448735:p.Pro522Gln		A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	pfam_DUF1619	p.P527Q	ENST00000551590.1	37	c.1580	CCDS41835.1	12	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032642	0.75504	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000397657;ENST00000397659;ENST00000397652;ENST00000547461;ENST00000552038;ENST00000485445;ENST00000491068	D;D;D	0.83837	-1.71;-1.7;-1.77	5.85	5.85	0.93711	.	0.000000	0.64402	U	0.000002	D	0.92001	0.7466	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91956	0.5575	10	0.66056	D	0.02	-8.9611	20.1632	0.98142	0.0:1.0:0.0:0.0	.	522;508;527	Q2MV58;Q2MV58-3;Q2MV58-2	TECT1_HUMAN;.;.	Q	418;522;508;344;527;466;83;126;41;41	ENSP00000448735:P522Q;ENSP00000380775:P508Q;ENSP00000380779:P527Q	ENSP00000380771:P418Q	P	+	2	0	TCTN1	109569469	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	7.058000	0.76676	2.772000	0.95346	0.650000	0.86243	CCA	TCTN1	-	NULL	ENSG00000204852		0.423	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	-	0.00	54	0	C	NM_024549		111085086	+1	tier1	-	no_errors	ENST00000397659	ensembl	human	known	74_37	missense	36.07	39	22	SNP	1.000	A
TDP1	55775	genome.wustl.edu	37	14	90485719	90485719	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:90485719T>A	ENST00000335725.4	+	15	1851	c.1601T>A	c.(1600-1602)aTc>aAc	p.I534N	TDP1_ENST00000393454.2_Missense_Mutation_p.I534N|TDP1_ENST00000357382.3_Missense_Mutation_p.I295N|TDP1_ENST00000555880.1_Missense_Mutation_p.I534N|TDP1_ENST00000393452.3_Missense_Mutation_p.I534N	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	534					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CAGCTGATGATCCGCTCCTAC	0.537								Repair of DNA-protein crosslinks																																									0													121.0	107.0	112.0					14																	90485719		2203	4300	6503	SO:0001583	missense	0			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1601T>A	14.37:g.90485719T>A	ENSP00000337353:p.Ile534Asn		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.I534N	ENST00000335725.4	37	c.1601	CCDS9888.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.322591|4.322591	0.81580|0.81580	.|.	.|.	ENSG00000042088|ENSG00000042088	ENST00000556063|ENST00000393452;ENST00000393454;ENST00000335725;ENST00000357382;ENST00000555880	.|T;T;T;T;T	.|0.71103	.|-0.54;-0.54;-0.54;-0.54;-0.54	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.226670	.|0.41605	.|D	.|0.000856	D|D	0.87700|0.87700	0.6243|0.6243	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.81914	.|0.984;0.995;0.991;0.995;0.991	D|D	0.90577|0.90577	0.4526|0.4526	5|10	.|0.59425	.|D	.|0.04	-15.8653|-15.8653	13.723|13.723	0.62740|0.62740	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|534;534;534;295;534	.|G3V2F4;E7EPD8;B2RDI0;Q86TV8;Q9NUW8	.|.;.;.;.;TYDP1_HUMAN	E|N	174|534;534;534;295;534	.|ENSP00000377098:I534N;ENSP00000377099:I534N;ENSP00000337353:I534N;ENSP00000349952:I295N;ENSP00000450628:I534N	.|ENSP00000337353:I534N	D|I	+|+	3|2	2|0	TDP1|TDP1	89555472|89555472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.949000|6.949000	0.75971|0.75971	1.881000|1.881000	0.54492|0.54492	0.533000|0.533000	0.62120|0.62120	GAT|ATC	TDP1	-	pfam_Tyr-DNA_phospho	ENSG00000042088		0.537	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	-	0.00	48	0	T	NM_018319		90485719	+1	tier1	-	no_errors	ENST00000335725	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	A
TDRD3	81550	genome.wustl.edu	37	13	61103042	61103042	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:61103042T>C	ENST00000196169.3	+	11	2192	c.1404T>C	c.(1402-1404)ggT>ggC	p.G468G	TDRD3_ENST00000377881.2_Silent_p.G468G|TDRD3_ENST00000535286.1_Silent_p.G561G|TDRD3_ENST00000377894.2_Silent_p.G468G	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	468					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CTTTCAGTGGTATAAAAATTG	0.289																																					Colon(36;164 906 35820 50723)												0													29.0	33.0	32.0					13																	61103042		2202	4297	6499	SO:0001819	synonymous_variant	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1404T>C	13.37:g.61103042T>C			B2MWP9|Q53XA6|Q6P992	Silent	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.G561	ENST00000196169.3	37	c.1683	CCDS9441.1	13																																																																																			TDRD3	-	NULL	ENSG00000083544		0.289	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	-	0.00	75	0	T	NM_030794		61103042	+1	tier1	-	no_errors	ENST00000535286	ensembl	human	known	74_37	silent	11.43	62	8	SNP	0.336	C
TDRG1	732253	genome.wustl.edu	37	6	40347103	40347104	+	RNA	INS	-	-	C	rs398094127|rs11434897	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:40347103_40347104insC	ENST00000373170.2	+	0	644_645				TDRG1_ENST00000448559.1_RNA|TDRG1_ENST00000451810.1_RNA|TDRG1_ENST00000448433.1_RNA	NR_024015.1		Q3Y452	TDRG1_HUMAN	testis development related 1 (non-protein coding)						multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											GAACTGGGAAGCCCCCCCACCC	0.515													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	779	0.155551	0.1157	0.3458	5008	,	,		18351	0.1329		0.173	False		,,,				2504	0.0798																0																																												0			DQ168992		6p21.2	2014-07-18	2011-12-13		ENSG00000204091	ENSG00000204091		"""-"""	43642	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 532"""	615676				19403381, 22123530, 24595048	Standard	NR_024015		Approved	LINC00532	uc003opg.2		OTTHUMG00000014660		6.37:g.40347110_40347110dupC				RNA	INS	-	NULL	ENST00000373170.2	37	NULL		6																																																																																			TDRG1	-	-	ENSG00000204091		0.515	TDRG1-002	KNOWN	basic	antisense	TDRG1	HGNC	antisense	OTTHUMT00000040484.1		0.00	47	0	-	NR_024015		40347104	+1	tier1		no_errors	ENST00000373170	ensembl	human	known	74_37	rna	21.67	47	13	INS	0.014:0.008	C
TDRD6	221400	genome.wustl.edu	37	6	46657580	46657580	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:46657580G>A	ENST00000316081.6	+	1	1715	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.R572Q|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	572	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTAGTTGACCGAGGCAATTCG	0.443																																																	0													165.0	162.0	163.0					6																	46657580		2203	4300	6503	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1715G>A	6.37:g.46657580G>A	ENSP00000346065:p.Arg572Gln		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.R572Q	ENST00000316081.6	37	c.1715	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126698	0.56721	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09255	3.0;3.0	6.02	6.02	0.97574	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.476736	0.24676	N	0.036505	T	0.16171	0.0389	M	0.63428	1.95	0.31520	N	0.662482	D;D	0.76494	0.999;0.999	P;D	0.66497	0.906;0.944	T	0.03296	-1.1051	10	0.41790	T	0.15	-9.5696	10.5405	0.45031	0.1435:0.0:0.8565:0.0	.	572;572	F5H5M3;O60522	.;TDRD6_HUMAN	Q	572	ENSP00000443299:R572Q;ENSP00000346065:R572Q	ENSP00000346065:R572Q	R	+	2	0	TDRD6	46765539	0.761000	0.28439	0.991000	0.47740	0.876000	0.50452	2.640000	0.46579	2.865000	0.98341	0.655000	0.94253	CGA	TDRD6	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000180113		0.443	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	-	0.00	50	0	G	XM_166443		46657580	+1	tier1	-	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	21.43	66	18	SNP	0.979	A
TECRL	253017	genome.wustl.edu	37	4	65155449	65155449	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:65155449A>G	ENST00000381210.3	-	9	921	c.811T>C	c.(811-813)Ttg>Ctg	p.L271L	TECRL_ENST00000507440.1_Silent_p.L271L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	271					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GGATGAGACAACATTACATTG	0.274																																																	0													66.0	64.0	65.0					4																	65155449		2203	4297	6500	SO:0001819	synonymous_variant	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.811T>C	4.37:g.65155449A>G				Silent	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.L271	ENST00000381210.3	37	c.811	CCDS33990.1	4																																																																																			TECRL	-	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	ENSG00000205678		0.274	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0.00	41	0	A	NM_001010874		65155449	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	silent	19.57	37	9	SNP	0.058	G
TENM3	55714	genome.wustl.edu	37	4	183714347	183714347	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:183714347C>T	ENST00000511685.1	+	26	6645	c.6522C>T	c.(6520-6522)cgC>cgT	p.R2174R	TENM3_ENST00000406950.2_Silent_p.R2174R			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2174					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CACCCCTTCGCTATGACCTGC	0.448																																																	0													117.0	115.0	116.0					4																	183714347		2002	4179	6181	SO:0001819	synonymous_variant	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6522C>T	4.37:g.183714347C>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R2174	ENST00000511685.1	37	c.6522	CCDS47165.1	4																																																																																			TENM3	-	superfamily_Cyt_c-like_dom	ENSG00000218336		0.448	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0.00	35	0	C			183714347	+1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	silent	26.92	19	7	SNP	1.000	T
TEPP	374739	genome.wustl.edu	37	16	58010398	58010398	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:58010398G>A	ENST00000441824.2	+	1	60	c.23G>A	c.(22-24)tGt>tAt	p.C8Y	TEPP_ENST00000290871.5_Missense_Mutation_p.C8Y	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	8						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						TGTGCACAATGTTCCTTTATT	0.498																																																	0													248.0	187.0	208.0					16																	58010398		2198	4300	6498	SO:0001583	missense	0			BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.23G>A	16.37:g.58010398G>A	ENSP00000401917:p.Cys8Tyr		Q6URK7	Missense_Mutation	SNP	NULL	p.C8Y	ENST00000441824.2	37	c.23	CCDS45496.1	16	.	.	.	.	.	.	.	.	.	.	G	7.987	0.752441	0.15778	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.52295	0.67;0.74	3.91	-0.447	0.12234	.	.	.	.	.	T	0.23094	0.0558	N	0.08118	0	0.09310	N	0.999994	B;B	0.11235	0.004;0.004	B;B	0.08055	0.002;0.003	T	0.18618	-1.0331	9	0.87932	D	0	2.4783	3.2075	0.06671	0.2059:0.0:0.4322:0.362	.	8;8	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	Y	8	ENSP00000290871:C8Y;ENSP00000401917:C8Y	ENSP00000290871:C8Y	C	+	2	0	TEPP	56567899	0.032000	0.19561	0.079000	0.20413	0.289000	0.27227	0.384000	0.20668	-0.026000	0.13895	-0.149000	0.13747	TGT	TEPP	-	NULL	ENSG00000159648		0.498	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEPP	HGNC	protein_coding	OTTHUMT00000431966.1	-	0.00	67	0	G	NM_199456		58010398	+1	tier1	-	no_errors	ENST00000290871	ensembl	human	known	74_37	missense	15.22	39	7	SNP	0.082	A
TET2	54790	genome.wustl.edu	37	4	106164884	106164884	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:106164884C>T	ENST00000540549.1	+	6	4612	c.3752C>T	c.(3751-3753)aCg>aTg	p.T1251M	TET2_ENST00000380013.4_Missense_Mutation_p.T1251M|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.T1272M			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1251					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTTACCGAGACGCTGAGGAAA	0.557			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													126.0	110.0	115.0					4																	106164884		692	1591	2283	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3752C>T	4.37:g.106164884C>T	ENSP00000442788:p.Thr1251Met		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.T1251M	ENST00000540549.1	37	c.3752	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037188	0.75617	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.37752	1.18;1.18;1.18	5.46	1.61	0.23674	TET cysteine-rich domain (1);	.	.	.	.	T	0.52805	0.1757	M	0.73598	2.24	0.35395	D	0.791101	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	T	0.60388	-0.7273	9	0.72032	D	0.01	.	6.7922	0.23705	0.0:0.6567:0.1272:0.2161	.	1272;1251	E7EQS8;Q6N021	.;TET2_HUMAN	M	1251;1272;1251	ENSP00000442788:T1251M;ENSP00000425443:T1272M;ENSP00000369351:T1251M	ENSP00000369351:T1251M	T	+	2	0	TET2	106384333	0.996000	0.38824	0.000000	0.03702	0.225000	0.24961	3.960000	0.56752	0.270000	0.21984	0.650000	0.86243	ACG	TET2	-	NULL	ENSG00000168769		0.557	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	-	0.00	46	0	C	NM_017628		106164884	+1	tier1	-	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.099	T
TET2	54790	genome.wustl.edu	37	4	106196910	106196910	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:106196910A>G	ENST00000540549.1	+	11	6103	c.5243A>G	c.(5242-5244)aAc>aGc	p.N1748S	TET2_ENST00000380013.4_Missense_Mutation_p.N1748S|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.N1769S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1748					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGCAATCCAAACATGGACTAT	0.458			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													37.0	29.0	32.0					4																	106196910		692	1591	2283	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.5243A>G	4.37:g.106196910A>G	ENSP00000442788:p.Asn1748Ser		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.N1748S	ENST00000540549.1	37	c.5243	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	A	1.433	-0.569734	0.03910	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.01981	4.52;4.52;4.52	5.16	-3.14	0.05250	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.01353	0.0044	N	0.17082	0.46	0.09310	N	0.999999	B;B	0.10296	0.003;0.003	B;B	0.16289	0.015;0.015	T	0.49103	-0.8974	9	0.09084	T	0.74	-1.4269	7.9336	0.29916	0.3721:0.1326:0.4952:0.0	.	1769;1748	E7EQS8;Q6N021	.;TET2_HUMAN	S	1748;1769;1748	ENSP00000442788:N1748S;ENSP00000425443:N1769S;ENSP00000369351:N1748S	ENSP00000369351:N1748S	N	+	2	0	TET2	106416359	0.001000	0.12720	0.000000	0.03702	0.158000	0.22134	0.691000	0.25467	-0.574000	0.05990	0.383000	0.25322	AAC	TET2	-	NULL	ENSG00000168769		0.458	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	-	0.00	15	0	A	NM_017628		106196910	+1	tier1	-	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.002	G
TEX15	56154	genome.wustl.edu	37	8	30701437	30701437	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:30701437T>C	ENST00000256246.2	-	1	5171	c.5097A>G	c.(5095-5097)acA>acG	p.T1699T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1699					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAATTGAATTGTTTCCATCA	0.373																																																	0													137.0	133.0	134.0					8																	30701437		2203	4300	6503	SO:0001819	synonymous_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5097A>G	8.37:g.30701437T>C				Silent	SNP	NULL	p.T1699	ENST00000256246.2	37	c.5097	CCDS6080.1	8																																																																																			TEX15	-	NULL	ENSG00000133863		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	-	0.00	61	0	T			30701437	-1	tier1	-	no_errors	ENST00000256246	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.951	C
TFB1M	51106	genome.wustl.edu	37	6	155581483	155581483	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:155581483G>T	ENST00000367166.4	-	6	773	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TTGAATGGCTGCTCTATCTTG	0.458																																																	0													152.0	125.0	134.0					6																	155581483		2203	4300	6503	SO:0001583	missense	0			AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.718C>A	6.37:g.155581483G>T	ENSP00000356134:p.Gln240Lys		Q05DR0|Q9Y384	Missense_Mutation	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N	p.Q240K	ENST00000367166.4	37	c.718	CCDS5248.1	6	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273665	0.80580	.	.	ENSG00000029639	ENST00000367166	T	0.24908	1.83	5.55	5.55	0.83447	.	0.114261	0.64402	D	0.000009	T	0.14399	0.0348	N	0.21282	0.65	0.80722	D	1	P	0.43169	0.8	P	0.50270	0.636	T	0.01159	-1.1433	10	0.05620	T	0.96	-20.5272	19.5192	0.95179	0.0:0.0:1.0:0.0	.	240	Q8WVM0	TFB1M_HUMAN	K	240	ENSP00000356134:Q240K	ENSP00000356134:Q240K	Q	-	1	0	TFB1M	155623175	1.000000	0.71417	0.990000	0.47175	0.791000	0.44710	9.476000	0.97823	2.611000	0.88343	0.655000	0.94253	CAG	TFB1M	-	pfam_rRNA_Ade_methylase_transferase	ENSG00000029639		0.458	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFB1M	HGNC	protein_coding	OTTHUMT00000042809.1	-	0.00	73	0	G			155581483	-1	tier1	-	no_errors	ENST00000367166	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T
TGFBR2	7048	genome.wustl.edu	37	3	30691872	30691872	+	Frame_Shift_Del	DEL	A	A	-	rs79375991		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:30691872delA	ENST00000295754.5	+	3	756	c.374delA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATTATGAAGGAAAAAAAAAAG	0.423																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)											89.0	92.0	91.0					3																	30691872		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.374delA	3.37:g.30691872delA	ENSP00000295754:p.Glu125fs		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K153fs	ENST00000295754.5	37	c.449	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor	ENSG00000163513		0.423	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0.00	51	0	A			30691872	+1	tier1		no_errors	ENST00000359013	ensembl	human	known	74_37	frame_shift_del	26.79	41	15	DEL	1.000	-
TFDP2	7029	genome.wustl.edu	37	3	141697454	141697454	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:141697454C>T	ENST00000489671.1	-	7	857	c.427G>A	c.(427-429)Gtt>Att	p.V143I	TFDP2_ENST00000317104.7_Missense_Mutation_p.V66I|TFDP2_ENST00000477292.1_Missense_Mutation_p.V7I|TFDP2_ENST00000499676.2_Missense_Mutation_p.V82I|TFDP2_ENST00000397991.4_Missense_Mutation_p.V115I|TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000479040.1_Missense_Mutation_p.V82I|TFDP2_ENST00000486111.1_Missense_Mutation_p.V82I|TFDP2_ENST00000310282.6_Missense_Mutation_p.V82I|TFDP2_ENST00000467072.1_Missense_Mutation_p.V82I|TFDP2_ENST00000495310.1_Missense_Mutation_p.V46I			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	143					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						TTTCGTTGAACTTTCTCACAC	0.373																																																	0													171.0	163.0	166.0					3																	141697454		1966	4150	6116	SO:0001583	missense	0			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.427G>A	3.37:g.141697454C>T	ENSP00000420616:p.Val143Ile		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.V143I	ENST00000489671.1	37	c.427	CCDS54650.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268395	0.80469	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000478006;ENST00000497579;ENST00000488107	T;T;T;T;T;T;T;T;T;T;T;T;T	0.62498	1.01;0.93;1.01;0.11;0.02;1.01;1.03;1.01;1.0;0.94;0.81;0.82;0.4	5.52	5.52	0.82312	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.75459	0.3852	M	0.83852	2.665	0.80722	D	1	B;B;B	0.32604	0.377;0.025;0.006	B;B;B	0.43575	0.424;0.077;0.009	T	0.77566	-0.2540	10	0.87932	D	0	-7.5173	19.4699	0.94959	0.0:1.0:0.0:0.0	.	46;143;82	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	I	82;143;82;7;46;82;66;82;82;115;82;56;82;82	ENSP00000439782:V82I;ENSP00000420616:V143I;ENSP00000420599:V82I;ENSP00000418971:V7I;ENSP00000419036:V46I;ENSP00000418590:V82I;ENSP00000315668:V66I;ENSP00000309622:V82I;ENSP00000417585:V82I;ENSP00000381078:V115I;ENSP00000417726:V82I;ENSP00000417220:V82I;ENSP00000420456:V82I	ENSP00000309622:V82I	V	-	1	0	TFDP2	143180144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.591000	0.87537	0.650000	0.86243	GTT	TFDP2	-	pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	ENSG00000114126		0.373	TFDP2-001	KNOWN	basic|CCDS	protein_coding	TFDP2	HGNC	protein_coding	OTTHUMT00000353294.4	-	0.00	71	0	C	NM_006286		141697454	-1	tier1	-	no_errors	ENST00000489671	ensembl	human	known	74_37	missense	12.70	55	8	SNP	1.000	T
TGM3	7053	genome.wustl.edu	37	20	2312875	2312875	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:2312875G>A	ENST00000381458.5	+	10	1624	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	521					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GAACATGACAGCCTGGACCAT	0.532																																																	0													121.0	95.0	104.0					20																	2312875		2203	4300	6503	SO:0001583	missense	0			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1561G>A	20.37:g.2312875G>A	ENSP00000370867:p.Ala521Thr		A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A521T	ENST00000381458.5	37	c.1561	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437423	0.83885	.	.	ENSG00000125780	ENST00000381458	T	0.70045	-0.45	5.3	5.3	0.74995	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.110120	0.64402	D	0.000007	T	0.79299	0.4422	M	0.69823	2.125	0.43846	D	0.996437	D	0.89917	1.0	D	0.91635	0.999	T	0.80405	-0.1396	10	0.72032	D	0.01	5.1073	11.3794	0.49748	0.0:0.0:0.8196:0.1804	.	521	Q08188	TGM3_HUMAN	T	521	ENSP00000370867:A521T	ENSP00000370867:A521T	A	+	1	0	TGM3	2260875	0.989000	0.36119	0.997000	0.53966	0.984000	0.73092	4.058000	0.57463	2.757000	0.94681	0.655000	0.94253	GCC	TGM3	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000125780		0.532	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	-	0.00	34	0	G	NM_003245		2312875	+1	tier1	-	no_errors	ENST00000381458	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.993	A
TH	7054	genome.wustl.edu	37	11	2189810	2189810	+	Missense_Mutation	SNP	C	C	T	rs376881948		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:2189810C>T	ENST00000381178.1	-	4	509	c.491G>A	c.(490-492)cGc>cAc	p.R164H	TH_ENST00000381175.1_Missense_Mutation_p.R160H|TH_ENST00000333684.5_Missense_Mutation_p.R137H|TH_ENST00000352909.3_Missense_Mutation_p.R133H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	164					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CACCTCGAGGCGCACGAAGTA	0.682																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4361		0,1,2180	12.0	16.0	15.0		398,491,479	3.3	0.2	11		15	0,8570		0,0,4285	no	missense,missense,missense	TH	NM_000360.3,NM_199292.2,NM_199293.2	29,29,29	0,1,6465	TT,TC,CC		0.0,0.0229,0.0077	probably-damaging,probably-damaging,probably-damaging	133/498,164/529,160/525	2189810	1,12931	2181	4285	6466	SO:0001583	missense	0			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.491G>A	11.37:g.2189810C>T	ENSP00000370571:p.Arg164His		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase	p.R164H	ENST00000381178.1	37	c.491	CCDS7731.1	11	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356148	0.41700	2.29E-4	0.0	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9	3.31	3.31	0.37934	.	0.310572	0.31542	U	0.007473	D	0.98372	0.9459	M	0.70275	2.135	0.45035	D	0.998059	B;P;P;D;D;D	0.63880	0.452;0.949;0.949;0.991;0.988;0.993	B;B;B;P;P;D	0.63192	0.066;0.438;0.438;0.888;0.818;0.912	D	0.98404	1.0569	10	0.51188	T	0.08	.	13.9504	0.64113	0.0:1.0:0.0:0.0	.	137;137;133;133;164;160	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	H	164;160;133;137	ENSP00000370571:R164H;ENSP00000370567:R160H;ENSP00000325951:R133H;ENSP00000328814:R137H	ENSP00000328814:R137H	R	-	2	0	TH	2146386	1.000000	0.71417	0.156000	0.22583	0.010000	0.07245	4.302000	0.59092	1.555000	0.49500	0.491000	0.48974	CGC	TH	-	pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase	ENSG00000180176		0.682	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	HGNC	protein_coding	OTTHUMT00000026597.1	-	0.00	56	0	C	NM_000360		2189810	-1	tier1	-	no_errors	ENST00000381178	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	T
THAP7	80764	genome.wustl.edu	37	22	21355663	21355663	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:21355663G>A	ENST00000215742.4	-	2	292	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Silent_p.L40L|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	40					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAGTTGGCCAGCCACAAGCCT	0.627																																																	0													58.0	66.0	63.0					22																	21355663		2200	4291	6491	SO:0001819	synonymous_variant	0			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.118C>T	22.37:g.21355663G>A			B2RD97|D3DX40	Silent	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.L40	ENST00000215742.4	37	c.118	CCDS13787.1	22																																																																																			THAP7	-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	ENSG00000184436		0.627	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7	HGNC	protein_coding	OTTHUMT00000320405.1	-	0.00	89	0	G	NM_030573		21355663	-1	tier1	-	no_errors	ENST00000215742	ensembl	human	known	74_37	silent	30.77	53	24	SNP	1.000	A
THBS2	7058	genome.wustl.edu	37	6	169634947	169634947	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:169634947G>A	ENST00000366787.3	-	11	1782	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	511	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGATCCCACCGGCACAGGTGA	0.682																																					Esophageal Squamous(91;219 1934 18562 44706)												0													41.0	43.0	42.0					6																	169634947		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1533C>T	6.37:g.169634947G>A			A6H8N1|A7E232|Q5RI52	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.A511	ENST00000366787.3	37	c.1533	CCDS34574.1	6																																																																																			THBS2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000186340		0.682	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	-	0.00	71	0	G	NM_003247		169634947	-1	tier1	-	no_errors	ENST00000366787	ensembl	human	known	74_37	silent	14.47	65	11	SNP	0.252	A
THBS2	7058	genome.wustl.edu	37	6	169639773	169639773	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:169639773G>A	ENST00000366787.3	-	8	1299	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	350	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGATTTGGTGGCAAATGGTTT	0.527																																					Esophageal Squamous(91;219 1934 18562 44706)												0													94.0	72.0	79.0					6																	169639773		2200	4297	6497	SO:0001819	synonymous_variant	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1050C>T	6.37:g.169639773G>A			A6H8N1|A7E232|Q5RI52	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.C350	ENST00000366787.3	37	c.1050	CCDS34574.1	6																																																																																			THBS2	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000186340		0.527	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	-	0.00	34	0	G	NM_003247		169639773	-1	tier1	-	no_errors	ENST00000366787	ensembl	human	known	74_37	silent	14.81	23	4	SNP	1.000	A
THBS3	7059	genome.wustl.edu	37	1	155167348	155167348	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:155167348C>T	ENST00000368378.3	-	20	2425	c.2405G>A	c.(2404-2406)gGc>gAc	p.G802D	THBS3_ENST00000457183.2_Missense_Mutation_p.G682D|RP11-263K19.4_ENST00000422665.1_RNA|MIR92B_ENST00000607575.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.G331D|THBS3_ENST00000541576.1_Missense_Mutation_p.G199D|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000436772.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	802	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTAGAAGCGGCCACTGTCTTG	0.562																																																	0													96.0	92.0	93.0					1																	155167348		2203	4300	6503	SO:0001583	missense	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2405G>A	1.37:g.155167348C>T	ENSP00000357362:p.Gly802Asp		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G802D	ENST00000368378.3	37	c.2405	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124083	0.56613	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	4.85	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.145674	0.48286	D	0.000182	T	0.81711	0.4880	N	0.24115	0.695	0.80722	D	1	P;B;B;P	0.36183	0.542;0.409;0.409;0.542	B;B;B;B	0.42462	0.388;0.158;0.158;0.158	D	0.84767	0.0765	10	0.66056	D	0.02	-21.9459	11.2185	0.48840	0.0:0.8147:0.1853:0.0	.	682;802;802;802	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	D	802;199;682;331	ENSP00000357362:G802D;ENSP00000444792:G199D;ENSP00000392207:G682D;ENSP00000437353:G331D	ENSP00000357362:G802D	G	-	2	0	THBS3	153433972	0.998000	0.40836	1.000000	0.80357	0.966000	0.64601	3.343000	0.52167	2.519000	0.84933	0.591000	0.81541	GGC	THBS3	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000169231		0.562	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	-	0.00	41	0	C	NM_007112		155167348	-1	tier1	-	no_errors	ENST00000368378	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	T
THRA	7067	genome.wustl.edu	37	17	38244561	38244561	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:38244561G>A	ENST00000264637.4	+	8	1370	c.790G>A	c.(790-792)Gct>Act	p.A264T	THRA_ENST00000394121.4_Missense_Mutation_p.A264T|THRA_ENST00000584985.1_Missense_Mutation_p.A264T|THRA_ENST00000546243.1_Missense_Mutation_p.A264T|THRA_ENST00000450525.2_Missense_Mutation_p.A264T	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	264	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCTGCGGGCGGCTGTCCGCTA	0.637																																																	0													94.0	82.0	86.0					17																	38244561		2203	4300	6503	SO:0001583	missense	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.790G>A	17.37:g.38244561G>A	ENSP00000264637:p.Ala264Thr		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A264T	ENST00000264637.4	37	c.790	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	g	34	5.366359	0.95900	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	M	0.74258	2.255	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.986	D;D;P	0.71414	0.973;0.97;0.677	D	0.99391	1.0925	10	0.87932	D	0	.	17.0857	0.86611	0.0:0.0:1.0:0.0	.	264;264;264	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	T	264	ENSP00000377679:A264T;ENSP00000264637:A264T;ENSP00000395641:A264T;ENSP00000443972:A264T	ENSP00000264637:A264T	A	+	1	0	THRA	35498087	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	9.758000	0.98927	2.304000	0.77564	0.486000	0.48141	GCT	THRA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000126351		0.637	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2	-	0.00	51	0	G			38244561	+1	tier1	-	no_errors	ENST00000264637	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	A
TICRR	90381	genome.wustl.edu	37	15	90163024	90163024	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:90163024G>A	ENST00000268138.7	+	18	3210	c.3105G>A	c.(3103-3105)ccG>ccA	p.P1035P	TICRR_ENST00000560985.1_Silent_p.P1034P|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1035					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TGTCTCAGCCGAAGTCTCGAA	0.468																																																	0													115.0	110.0	111.0					15																	90163024		1941	4149	6090	SO:0001819	synonymous_variant	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3105G>A	15.37:g.90163024G>A			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.P1035	ENST00000268138.7	37	c.3105	CCDS10352.2	15																																																																																			TICRR	-	NULL	ENSG00000140534		0.468	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	-	0.00	67	0	G	NM_152259		90163024	+1	tier1	-	no_errors	ENST00000268138	ensembl	human	known	74_37	silent	14.89	40	7	SNP	0.001	A
TIE1	7075	genome.wustl.edu	37	1	43770890	43770890	+	Intron	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:43770890C>A	ENST00000372476.3	+	3	452				TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000538015.1_Intron|TIE1_ENST00000441333.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1						angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGACCCACCTTCCACCCCG	0.627																																																	0													86.0	75.0	78.0					1																	43770890		2203	4300	6503	SO:0001627	intron_variant	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.374-14C>A	1.37:g.43770890C>A			B5A949|B5A950	RNA	SNP	-	NULL	ENST00000372476.3	37	NULL	CCDS482.1	1																																																																																			TIE1	-	-	ENSG00000066056		0.627	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	-	0.00	69	0	C	NM_005424		43770890	+1	tier1	-	no_errors	ENST00000485125	ensembl	human	known	74_37	rna	20.27	59	15	SNP	0.006	A
TIGD2	166815	genome.wustl.edu	37	4	90034766	90034766	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:90034766G>A	ENST00000317005.2	+	1	799	c.641G>A	c.(640-642)tGc>tAc	p.C214Y	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	214	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		ATTATGTGTTGCGCAAATGCC	0.428																																																	0													75.0	79.0	77.0					4																	90034766		2203	4300	6503	SO:0001583	missense	0			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.641G>A	4.37:g.90034766G>A	ENSP00000317170:p.Cys214Tyr			Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.C214Y	ENST00000317005.2	37	c.641	CCDS3633.1	4	.	.	.	.	.	.	.	.	.	.	g	15.83	2.948519	0.53186	.	.	ENSG00000180346	ENST00000317005	T	0.53640	0.61	3.97	3.97	0.46021	.	0.000000	0.43110	U	0.000612	T	0.67979	0.2951	M	0.79614	2.46	0.37662	D	0.92279	D	0.89917	1.0	D	0.91635	0.999	T	0.76599	-0.2900	10	0.87932	D	0	-3.7275	13.666	0.62396	0.0:0.0:1.0:0.0	.	214	Q4W5G0	TIGD2_HUMAN	Y	214	ENSP00000317170:C214Y	ENSP00000317170:C214Y	C	+	2	0	TIGD2	90253789	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.152000	0.71812	2.070000	0.61991	0.546000	0.68486	TGC	TIGD2	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000180346		0.428	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD2	HGNC	protein_coding	OTTHUMT00000253545.2		0.00	49	0	G	NM_145715		90034766	+1			no_errors	ENST00000317005	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	A
TLCD1	116238	genome.wustl.edu	37	17	27051859	27051859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:27051859delC	ENST00000292090.3	-	4	523	c.413delG	c.(412-414)ggtfs	p.G138fs	TLCD1_ENST00000394933.3_Frame_Shift_Del_p.G91fs|AC010761.8_ENST00000582718.1_RNA|AC010761.14_ENST00000587898.1_RNA|SNORD4B_ENST00000459083.1_RNA|SNORD42A_ENST00000459584.1_RNA|SNORD4A_ENST00000459174.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	138	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					TGTTAAGACACCCCCACCGAC	0.498																																																	0													69.0	68.0	69.0					17																	27051859		2203	4300	6503	SO:0001589	frameshift_variant	0			BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.413delG	17.37:g.27051859delC	ENSP00000292090:p.Gly138fs		A8MYP9	Frame_Shift_Del	DEL	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.G138fs	ENST00000292090.3	37	c.413	CCDS11242.1	17																																																																																			TLCD1	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000160606		0.498	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLCD1	HGNC	protein_coding	OTTHUMT00000255973.1		0.00	31	0	C	NM_138463		27051859	-1	tier1		no_errors	ENST00000292090	ensembl	human	known	74_37	frame_shift_del	21.43	22	6	DEL	0.737	-
TLE2	7089	genome.wustl.edu	37	19	3019732	3019732	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:3019732G>T	ENST00000262953.6	-	6	596	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	TLE2_ENST00000590536.1_Missense_Mutation_p.Q112K|TLE2_ENST00000455444.2_Missense_Mutation_p.Q57K|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000591529.1_Missense_Mutation_p.Q125K|TLE2_ENST00000443826.3_Missense_Mutation_p.Q57K|TLE2_ENST00000426948.2_Missense_Mutation_p.Q125K|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000586422.1_Missense_Mutation_p.Q57K	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	112	Gln-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGTGACCTGCTTGGCGCGT	0.662																																																	0													30.0	40.0	37.0					19																	3019732		2092	4216	6308	SO:0001583	missense	0			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.334C>A	19.37:g.3019732G>T	ENSP00000262953:p.Gln112Lys		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q112K	ENST00000262953.6	37	c.334	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111355	0.56398	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948	T;T;T;T	0.62788	0.19;-0.0;-0.0;0.39	4.24	4.24	0.50183	Groucho/TLE, N-terminal Q-rich domain (1);	0.278559	0.36034	N	0.002833	T	0.80444	0.4624	M	0.91038	3.17	0.45183	D	0.998197	B;B;P;D	0.58620	0.284;0.36;0.568;0.983	B;B;B;P	0.62382	0.152;0.209;0.396;0.901	D	0.84984	0.0890	10	0.87932	D	0	-18.5239	12.5066	0.55986	0.0:0.0:1.0:0.0	.	57;125;57;112	E9PEV7;F8WCH2;B4DE03;Q04725	.;.;.;TLE2_HUMAN	K	112;57;105;57;125	ENSP00000262953:Q112K;ENSP00000413107:Q57K;ENSP00000392427:Q57K;ENSP00000392869:Q125K	ENSP00000262953:Q112K	Q	-	1	0	TLE2	2970732	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	8.712000	0.91403	2.084000	0.62774	0.462000	0.41574	CAG	TLE2	-	pfam_Groucho/TLE_N	ENSG00000065717		0.662	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	-	0.00	166	0	G	NM_003260		3019732	-1	tier1	-	no_errors	ENST00000262953	ensembl	human	known	74_37	missense	6.85	136	10	SNP	1.000	T
TLX3	30012	genome.wustl.edu	37	5	170736463	170736463	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:170736463G>T	ENST00000296921.5	+	1	176	c.94G>T	c.(94-96)Gca>Tca	p.A32S		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	32					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGGACAGCGCACCCGCCCC	0.756			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)			Dom	yes		5	5q35.1	30012	"""T-cell leukemia, homeobox 3 (HOX11L2)"""		L	0													10.0	12.0	11.0					5																	170736463		2167	4250	6417	SO:0001583	missense	0			AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.94G>T	5.37:g.170736463G>T	ENSP00000296921:p.Ala32Ser		Q96AD3	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.A32S	ENST00000296921.5	37	c.94	CCDS34288.1	5	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377315	0.24944	.	.	ENSG00000164438	ENST00000296921	D	0.90900	-2.75	4.42	4.42	0.53409	.	0.446865	0.23945	N	0.043016	T	0.75302	0.3831	N	0.02916	-0.46	0.32537	N	0.534179	B	0.13145	0.007	B	0.12156	0.007	T	0.67991	-0.5527	10	0.02654	T	1	.	14.5754	0.68243	0.0:0.0:1.0:0.0	.	32	O43711	TLX3_HUMAN	S	32	ENSP00000296921:A32S	ENSP00000296921:A32S	A	+	1	0	TLX3	170669068	0.995000	0.38212	0.945000	0.38365	0.876000	0.50452	2.037000	0.41174	2.284000	0.76573	0.455000	0.32223	GCA	TLX3	-	NULL	ENSG00000164438		0.756	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TLX3	HGNC	protein_coding	OTTHUMT00000372076.3	-	0.00	24	0	G			170736463	+1	tier1	-	no_errors	ENST00000296921	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T
TMC2	117532	genome.wustl.edu	37	20	2621828	2621828	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:2621828C>T	ENST00000358864.1	+	20	2567	c.2552C>T	c.(2551-2553)gCg>gTg	p.A851V		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	851					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACAAGAAGGCGCAGGGCCCT	0.567																																																	0													84.0	89.0	87.0					20																	2621828		2203	4300	6503	SO:0001583	missense	0			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2552C>T	20.37:g.2621828C>T	ENSP00000351732:p.Ala851Val		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.A851V	ENST00000358864.1	37	c.2552	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034174	0.35893	.	.	ENSG00000149488	ENST00000358864	T	0.64260	-0.09	4.89	1.91	0.25777	.	0.302280	0.30611	N	0.009260	T	0.48943	0.1528	L	0.51422	1.61	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.31138	-0.9954	10	0.29301	T	0.29	-1.3209	6.1865	0.20500	0.0:0.6941:0.0:0.3059	.	851	Q8TDI7	TMC2_HUMAN	V	851	ENSP00000351732:A851V	ENSP00000351732:A851V	A	+	2	0	TMC2	2569828	0.032000	0.19561	0.094000	0.20943	0.082000	0.17680	-0.033000	0.12246	0.736000	0.32559	0.591000	0.81541	GCG	TMC2	-	NULL	ENSG00000149488		0.567	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	-	0.00	67	0	C			2621828	+1	tier1	-	no_errors	ENST00000358864	ensembl	human	known	74_37	missense	11.76	60	8	SNP	0.030	T
TM9SF4	9777	genome.wustl.edu	37	20	30730863	30730863	+	Missense_Mutation	SNP	C	C	T	rs199761347		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:30730863C>T	ENST00000398022.2	+	6	842	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	TM9SF4_ENST00000217315.5_Missense_Mutation_p.R186C	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	203						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCACACGTACCGTGTCGTCCG	0.577																																																	0													188.0	128.0	148.0					20																	30730863		2203	4300	6503	SO:0001583	missense	0			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.607C>T	20.37:g.30730863C>T	ENSP00000381104:p.Arg203Cys		B0QYT7|Q9NUA3	Missense_Mutation	SNP	pfam_EMP70	p.R203C	ENST00000398022.2	37	c.607	CCDS13196.2	20	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978679	0.74360	.	.	ENSG00000101337	ENST00000398022;ENST00000421148;ENST00000217315	T;T	0.54479	0.57;0.57	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.80237	0.4586	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.977;0.999	D	0.85519	0.1202	10	0.87932	D	0	-8.9696	12.9829	0.58575	0.172:0.828:0.0:0.0	.	129;110;203	F5H3B5;B4DH88;Q92544	.;.;TM9S4_HUMAN	C	203;129;186	ENSP00000381104:R203C;ENSP00000217315:R186C	ENSP00000217315:R186C	R	+	1	0	TM9SF4	30194524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.183000	0.50918	2.684000	0.91462	0.555000	0.69702	CGT	TM9SF4	-	pfam_EMP70	ENSG00000101337		0.577	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	HGNC	protein_coding	OTTHUMT00000323568.1	-	0.00	52	0	C	NM_014742		30730863	+1	tier1	rs199761347	no_errors	ENST00000398022	ensembl	human	known	74_37	missense	18.00	40	9	SNP	1.000	T
TMC4	147798	genome.wustl.edu	37	19	54668189	54668189	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:54668189C>T	ENST00000376591.4	-	7	1241	c.1110G>A	c.(1108-1110)acG>acA	p.T370T	TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Silent_p.T364T|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	370					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGGTGCACCCCGTAGCCCAGT	0.642																																																	0													86.0	89.0	88.0					19																	54668189		2203	4300	6503	SO:0001819	synonymous_variant	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1110G>A	19.37:g.54668189C>T			Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	pfam_TMC	p.T364	ENST00000376591.4	37	c.1092	CCDS46174.1	19																																																																																			TMC4	-	NULL	ENSG00000167608		0.642	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	-	0.00	94	0	C			54668189	-1	tier1	-	no_errors	ENST00000301187	ensembl	human	known	74_37	silent	32.56	58	28	SNP	0.000	T
TMC8	147138	genome.wustl.edu	37	17	76135299	76135299	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:76135299G>T	ENST00000318430.5	+	15	2254	c.1880G>T	c.(1879-1881)aGg>aTg	p.R627M	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.R404M	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	627					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCCATCCACAGGCTCCGGAAG	0.642																																																	0													76.0	66.0	69.0					17																	76135299		2203	4300	6503	SO:0001583	missense	0			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1880G>T	17.37:g.76135299G>T	ENSP00000325561:p.Arg627Met		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.R627M	ENST00000318430.5	37	c.1880	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227858	0.58777	.	.	ENSG00000167895	ENST00000318430	T	0.75821	-0.97	4.86	0.119	0.14685	.	1.152030	0.06460	N	0.729299	T	0.60287	0.2257	L	0.36672	1.1	0.09310	N	1	P	0.35600	0.511	B	0.31751	0.135	T	0.50915	-0.8771	10	0.48119	T	0.1	-3.6007	4.0575	0.09823	0.1844:0.0:0.4931:0.3225	.	627	Q8IU68	TMC8_HUMAN	M	627	ENSP00000325561:R627M	ENSP00000325561:R627M	R	+	2	0	TMC8	73646894	0.000000	0.05858	0.359000	0.25824	0.979000	0.70002	-0.156000	0.10100	0.094000	0.17404	0.585000	0.79938	AGG	TMC8	-	NULL	ENSG00000167895		0.642	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	-	0.00	30	0	G			76135299	+1	tier1	-	no_errors	ENST00000318430	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.139	T
TMCC2	9911	genome.wustl.edu	37	1	205211075	205211075	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:205211075G>A	ENST00000358024.3	+	2	1039	c.650G>A	c.(649-651)cGt>cAt	p.R217H	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.R139H	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	217						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACCAGTGCCGTCCCCGCTCT	0.682																																																	0													21.0	19.0	20.0					1																	205211075		2181	4280	6461	SO:0001583	missense	0			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.650G>A	1.37:g.205211075G>A	ENSP00000350718:p.Arg217His		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.R217H	ENST00000358024.3	37	c.650	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379834	0.61845	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.60424	0.19;0.3	5.06	4.15	0.48705	.	0.000000	0.56097	D	0.000031	T	0.49184	0.1542	L	0.41492	1.28	0.50632	D	0.999882	B	0.18310	0.027	B	0.10450	0.005	T	0.49341	-0.8950	10	0.87932	D	0	.	13.1471	0.59467	0.0784:0.0:0.9216:0.0	.	217	O75069	TMCC2_HUMAN	H	217;139	ENSP00000350718:R217H;ENSP00000437943:R139H	ENSP00000350718:R217H	R	+	2	0	TMCC2	203477698	1.000000	0.71417	0.968000	0.41197	0.977000	0.68977	6.469000	0.73555	1.120000	0.41904	0.462000	0.41574	CGT	TMCC2	-	NULL	ENSG00000133069		0.682	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	HGNC	protein_coding	OTTHUMT00000090383.1	-	0.00	21	0	G	NM_014858		205211075	+1	tier1	-	no_errors	ENST00000358024	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.997	A
TMEFF2	23671	genome.wustl.edu	37	2	193049181	193049181	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:193049181C>T	ENST00000272771.5	-	3	1495	c.311G>A	c.(310-312)gGc>gAc	p.G104D	TMEFF2_ENST00000392314.1_Missense_Mutation_p.G104D|TMEFF2_ENST00000409056.3_Missense_Mutation_p.G104D	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	104	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CCCATTGGAGCCACACACAGG	0.473																																					Pancreas(50;1277 1381 28487 47072)												0													153.0	123.0	133.0					2																	193049181		2203	4300	6503	SO:0001583	missense	0			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.311G>A	2.37:g.193049181C>T	ENSP00000272771:p.Gly104Asp		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom	p.G104D	ENST00000272771.5	37	c.311	CCDS2314.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.173075	0.94807	.	.	ENSG00000144339	ENST00000392314;ENST00000272771;ENST00000409056	D;D;D	0.89875	-2.58;-2.58;-2.58	5.57	5.57	0.84162	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	D	0.97216	0.9090	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98638	1.0674	10	0.87932	D	0	-14.1013	19.5292	0.95222	0.0:1.0:0.0:0.0	.	104;104	Q9UIK5-3;Q9UIK5	.;TEFF2_HUMAN	D	104	ENSP00000376128:G104D;ENSP00000272771:G104D;ENSP00000386871:G104D	ENSP00000272771:G104D	G	-	2	0	TMEFF2	192757426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.625000	0.88918	0.591000	0.81541	GGC	TMEFF2	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000144339		0.473	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF2	HGNC	protein_coding	OTTHUMT00000256065.2	-	0.00	42	0	C	NM_016192		193049181	-1	tier1	-	no_errors	ENST00000272771	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T
TMEM121	80757	genome.wustl.edu	37	14	105995579	105995579	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105995579C>T	ENST00000392519.2	+	2	572	c.408C>T	c.(406-408)taC>taT	p.Y136Y	TMEM121_ENST00000431372.1_Silent_p.Y136Y	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	136						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCATGGAGTACGTGCGCACCT	0.706																																																	0													11.0	10.0	11.0					14																	105995579		2179	4242	6421	SO:0001819	synonymous_variant	0				CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.408C>T	14.37:g.105995579C>T				Silent	SNP	NULL	p.Y136	ENST00000392519.2	37	c.408	CCDS10006.1	14																																																																																			TMEM121	-	NULL	ENSG00000184986		0.706	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM121	HGNC	protein_coding	OTTHUMT00000074621.2	-	0.00	79	0	C	NM_025268		105995579	+1	tier1	-	no_errors	ENST00000392519	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.998	T
TMEM129	92305	genome.wustl.edu	37	4	1719363	1719363	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:1719363G>T	ENST00000382936.3	-	3	1213	c.720C>A	c.(718-720)ctC>ctA	p.L240L	TMEM129_ENST00000303277.2_Intron|TMEM129_ENST00000536901.1_Silent_p.L240L	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129, E3 ubiquitin protein ligase	240					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			TGGGTGCCCGGAGCTTCTCGC	0.642																																																	0													48.0	56.0	54.0					4																	1719363		692	1591	2283	SO:0001819	synonymous_variant	0			BC009331	CCDS3351.1, CCDS46998.1	4p16.3	2014-07-25	2014-07-25		ENSG00000168936	ENSG00000168936			25137	protein-coding gene	gene with protein product		615975	"""transmembrane protein 129"""			24807418, 25030448	Standard	NM_138385		Approved	D4S2561E	uc003gdn.3	A0AVI4	OTTHUMG00000121150	ENST00000382936.3:c.720C>A	4.37:g.1719363G>T			A6NH49|A6NI98|D3DVP8	Silent	SNP	pfam_Tmpp129	p.L240	ENST00000382936.3	37	c.720	CCDS46998.1	4																																																																																			TMEM129	-	pfam_Tmpp129	ENSG00000168936		0.642	TMEM129-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM129	HGNC	protein_coding	OTTHUMT00000350724.1	-	0.00	29	0	G	NM_138385		1719363	-1	tier1	-	no_errors	ENST00000382936	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.988	T
TMEM131	23505	genome.wustl.edu	37	2	98543889	98543889	+	Splice_Site	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:98543889C>A	ENST00000186436.5	-	2	477	c.249G>T	c.(247-249)caG>caT	p.Q83H	TMEM131_ENST00000425805.2_Splice_Site_p.Q34H	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	83						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AAAAAATTACCTGTAGTAGCC	0.299																																																	0													56.0	52.0	54.0					2																	98543889		1827	4079	5906	SO:0001630	splice_region_variant	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.249+1G>T	2.37:g.98543889C>A				Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.Q83H	ENST00000186436.5	37	c.249	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819841	0.50633	.	.	ENSG00000075568	ENST00000186436;ENST00000425805	T	0.36878	1.23	5.16	5.16	0.70880	.	.	.	.	.	T	0.43809	0.1264	N	0.19112	0.55	0.80722	D	1	D;D	0.65815	0.995;0.978	D;P	0.65573	0.936;0.501	T	0.22382	-1.0218	8	.	.	.	.	17.5711	0.87934	0.0:1.0:0.0:0.0	.	34;83	B4DMG2;Q92545	.;TM131_HUMAN	H	83;34	ENSP00000186436:Q83H	.	Q	-	3	2	TMEM131	97910321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.739000	0.55075	2.687000	0.91594	0.557000	0.71058	CAG	TMEM131	-	NULL	ENSG00000075568		0.299	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	-	0.00	63	0	C	XM_371542	Missense_Mutation	98543889	-1	tier1	-	no_errors	ENST00000186436	ensembl	human	known	74_37	missense	11.54	46	6	SNP	1.000	A
TMEM132B	114795	genome.wustl.edu	37	12	126128809	126128809	+	Missense_Mutation	SNP	C	C	T	rs554924533	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:126128809C>T	ENST00000299308.3	+	6	1618	c.1610C>T	c.(1609-1611)cCg>cTg	p.P537L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P49L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	537						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGAGGATCCCGGTTGCTGCC	0.572													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18060	0.001		0.0	False		,,,				2504	0.0																0													45.0	48.0	47.0					12																	126128809		1939	4152	6091	SO:0001583	missense	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1610C>T	12.37:g.126128809C>T	ENSP00000299308:p.Pro537Leu		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.P537L	ENST00000299308.3	37	c.1610	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992711	0.74703	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.28895	1.59;1.59	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	T	0.61048	0.2316	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65298	-0.6202	10	0.87932	D	0	.	19.4324	0.94776	0.0:1.0:0.0:0.0	.	537	Q14DG7	T132B_HUMAN	L	537;49	ENSP00000299308:P537L;ENSP00000440436:P49L	ENSP00000299308:P537L	P	+	2	0	TMEM132B	124694762	1.000000	0.71417	0.968000	0.41197	0.347000	0.29111	5.787000	0.69013	2.578000	0.87016	0.655000	0.94253	CCG	TMEM132B	-	NULL	ENSG00000139364		0.572	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	-	0.00	64	0	C	NM_052907		126128809	+1	tier1	-	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	24.68	58	19	SNP	1.000	T
TMEM132C	92293	genome.wustl.edu	37	12	129181916	129181916	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:129181916A>C	ENST00000435159.2	+	8	2077	c.2077A>C	c.(2077-2079)Aca>Cca	p.T693P	TMEM132C_ENST00000315208.8_Missense_Mutation_p.T309P|TMEM132C_ENST00000537538.1_Missense_Mutation_p.T78P	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	693						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CAAGGCCGTAACAGCTGTGGT	0.592																																																	0													19.0	18.0	18.0					12																	129181916		692	1591	2283	SO:0001583	missense	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.2077A>C	12.37:g.129181916A>C	ENSP00000410852:p.Thr693Pro		Q69YX8	Missense_Mutation	SNP	NULL	p.T693P	ENST00000435159.2	37	c.2077		12	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158652	0.38119	.	.	ENSG00000181234	ENST00000435159;ENST00000315208;ENST00000537538	T;T;T	0.13901	2.55;2.55;2.55	4.12	-0.169	0.13339	.	0.584031	0.15516	N	0.258318	T	0.10035	0.0246	L	0.47190	1.495	0.23150	N	0.998215	P	0.40681	0.727	B	0.40506	0.331	T	0.17048	-1.0382	10	0.46703	T	0.11	.	0.8462	0.01161	0.4003:0.1559:0.2807:0.1631	.	693	Q8N3T6	T132C_HUMAN	P	693;309;78	ENSP00000410852:T693P;ENSP00000324458:T309P;ENSP00000438477:T78P	ENSP00000324458:T309P	T	+	1	0	TMEM132C	127747869	1.000000	0.71417	0.041000	0.18516	0.627000	0.37826	1.130000	0.31393	0.097000	0.17492	0.260000	0.18958	ACA	TMEM132C	-	NULL	ENSG00000181234		0.592	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		-	0.00	36	0	A	XM_044062		129181916	+1	tier1	-	no_errors	ENST00000435159	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.928	C
TMEM132C	92293	genome.wustl.edu	37	12	129189895	129189895	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:129189895C>T	ENST00000435159.2	+	9	2382	c.2382C>T	c.(2380-2382)aaC>aaT	p.N794N	TMEM132C_ENST00000315208.8_Silent_p.N410N|TMEM132C_ENST00000537538.1_Silent_p.N179N	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	794						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GCGTCGGCAACGTCAGGGTCA	0.612																																																	0													21.0	26.0	25.0					12																	129189895		692	1591	2283	SO:0001819	synonymous_variant	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.2382C>T	12.37:g.129189895C>T			Q69YX8	Silent	SNP	NULL	p.N794	ENST00000435159.2	37	c.2382		12																																																																																			TMEM132C	-	NULL	ENSG00000181234		0.612	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		-	0.00	31	0	C	XM_044062		129189895	+1	tier1	-	no_errors	ENST00000435159	ensembl	human	known	74_37	silent	25.45	41	14	SNP	0.003	T
TMEM132D	121256	genome.wustl.edu	37	12	130184428	130184428	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:130184428C>T	ENST00000422113.2	-	2	1221	c.895G>A	c.(895-897)Gtg>Atg	p.V299M	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	299					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTTTCCTCACGGTCTTTGGT	0.493																																																	0													121.0	114.0	116.0					12																	130184428		2203	4300	6503	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.895G>A	12.37:g.130184428C>T	ENSP00000408581:p.Val299Met		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.V299M	ENST00000422113.2	37	c.895	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056980	0.55325	.	.	ENSG00000151952	ENST00000422113	T	0.12569	2.67	5.47	5.47	0.80525	.	0.318671	0.25738	N	0.028626	T	0.36220	0.0959	M	0.83223	2.63	0.09310	N	1	D	0.63880	0.993	P	0.54270	0.747	T	0.24941	-1.0146	9	.	.	.	-16.7599	19.3444	0.94357	0.0:1.0:0.0:0.0	.	299	Q14C87	T132D_HUMAN	M	299	ENSP00000408581:V299M	.	V	-	1	0	TMEM132D	128750381	0.016000	0.18221	0.005000	0.12908	0.006000	0.05464	2.579000	0.46059	2.542000	0.85734	0.650000	0.86243	GTG	TMEM132D	-	NULL	ENSG00000151952		0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1		0.00	50	0	C	NM_133448		130184428	-1			no_errors	ENST00000422113	ensembl	human	known	74_37	missense	13.64	38	6	SNP	0.014	T
TMEM184A	202915	genome.wustl.edu	37	7	1585319	1585319	+	3'UTR	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:1585319delG	ENST00000297477.5	-	0	2827				TMEM184A_ENST00000449955.1_5'UTR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A						germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCCTGGGCCTGGGGGGCGCCC	0.701																																																	0										9,2755		0,9,1373	32.0	34.0	33.0			-2.5	0.0	7		33	13,4817		2,9,2404	no	utr-3	TMEM184A	NM_001097620.1		2,18,3777	A1A1,A1R,RR		0.2692,0.3256,0.2897			1585319	22,7572	691	1591	2282	SO:0001624	3_prime_UTR_variant	0				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.*1269C>-	7.37:g.1585319delG			Q8TBQ6	RNA	DEL	-	NULL	ENST00000297477.5	37	NULL	CCDS43537.1	7																																																																																			TMEM184A	-	-	ENSG00000164855		0.701	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184A	HGNC	protein_coding	OTTHUMT00000239229.4		0.00	16	0	G	NM_152689		1585319	-1	tier1		no_errors	ENST00000421996	ensembl	human	putative	74_37	rna	25.00	18	6	DEL	0.000	-
TMEM184C	55751	genome.wustl.edu	37	4	148550763	148550764	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:148550763_148550764insT	ENST00000296582.3	+	6	1160_1161	c.586_587insT	c.(586-588)cttfs	p.L196fs	TMEM184C_ENST00000508208.1_Frame_Shift_Ins_p.L196fs	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	196						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTGTGAGCTGCTTGGTATATAT	0.292																																																	0																																										SO:0001589	frameshift_variant	0			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.588dupT	4.37:g.148550765_148550765dupT	ENSP00000296582:p.Leu196fs		D3DP04|Q86X84|Q969I7|Q9NXM2	Frame_Shift_Ins	INS	pfam_Ost-alpha	p.G197fs	ENST00000296582.3	37	c.586_587	CCDS3770.1	4																																																																																			TMEM184C	-	pfam_Ost-alpha	ENSG00000164168		0.292	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184C	HGNC	protein_coding	OTTHUMT00000364644.1		0.00	75	0	-	NM_018241		148550764	+1	tier1		no_errors	ENST00000296582	ensembl	human	known	74_37	frame_shift_ins	26.09	51	18	INS	0.015:0.026	T
TMEM186	25880	genome.wustl.edu	37	16	8889941	8889941	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:8889941C>T	ENST00000333050.6	-	2	543	c.510G>A	c.(508-510)cgG>cgA	p.R170R	PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000537352.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	170						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						TCTCCTGAGGCCGGTCCTTGG	0.577																																																	0													152.0	130.0	138.0					16																	8889941		2197	4300	6497	SO:0001819	synonymous_variant	0			BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.510G>A	16.37:g.8889941C>T			B2RAY0|Q9Y4T4	Silent	SNP	NULL	p.R170	ENST00000333050.6	37	c.510	CCDS10535.1	16																																																																																			TMEM186	-	NULL	ENSG00000184857		0.577	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM186	HGNC	protein_coding	OTTHUMT00000251903.1	-	0.00	74	0	C	NM_015421		8889941	-1	tier1	-	no_errors	ENST00000333050	ensembl	human	known	74_37	silent	19.19	80	19	SNP	0.000	T
TMEM191A	84222	genome.wustl.edu	37	22	21058315	21058315	+	RNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:21058315C>T	ENST00000450925.2	+	0	1611					NR_026815.1		Q9H0A3	T191A_HUMAN	transmembrane protein 191A (pseudogene)							integral component of membrane (GO:0016021)											GAGGAGATGGCCAGGGCGGAC	0.736																																																	0																																												0			AL136879		22q11.21	2012-04-20	2012-04-20		ENSG00000226287	ENSG00000226287			25317	pseudogene	pseudogene			"""transmembrane protein 191A"""			11230166	Standard	NR_026815		Approved	DKFZp434N035, TMEM191AP	uc002zsx.1	Q9H0A3	OTTHUMG00000150164		22.37:g.21058315C>T			B2R8E2	RNA	SNP	-	NULL	ENST00000450925.2	37	NULL		22																																																																																			TMEM191A	-	-	ENSG00000226287		0.736	TMEM191A-001	KNOWN	basic	processed_transcript	TMEM191A	HGNC	processed_transcript	OTTHUMT00000316649.1	-	0.00	77	0	C			21058315	+1	tier1	-	no_errors	ENST00000419950	ensembl	human	known	74_37	rna	7.89	105	9	SNP	1.000	T
TMEM194B	100131211	genome.wustl.edu	37	2	191382316	191382316	+	Missense_Mutation	SNP	G	G	A	rs571200788		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:191382316G>A	ENST00000409150.3	-	5	608	c.542C>T	c.(541-543)tCg>tTg	p.S181L	TMEM194B_ENST00000492292.1_5'Flank	NM_001142645.1	NP_001136117.1	A6NFY4	T194B_HUMAN	transmembrane protein 194B	181						integral component of membrane (GO:0016021)											CACAGTTCCCGAGGAGTAATA	0.363																																																	0													134.0	109.0	116.0					2																	191382316		692	1591	2283	SO:0001583	missense	0				CCDS46476.1	2q32.2	2008-06-10			ENSG00000189362	ENSG00000189362			33700	protein-coding gene	gene with protein product							Standard	NM_001142645		Approved		uc010zgf.2	A6NFY4	OTTHUMG00000154454	ENST00000409150.3:c.542C>T	2.37:g.191382316G>A	ENSP00000386292:p.Ser181Leu		B4DYG6	Missense_Mutation	SNP	pfam_TMEM194	p.S181L	ENST00000409150.3	37	c.542	CCDS46476.1	2	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762829	0.31228	.	.	ENSG00000189362	ENST00000409150	T	0.58506	0.33	5.37	3.47	0.39725	Domain of unknown function DUF2215 (1);	0.339372	0.24669	N	0.036576	T	0.55513	0.1925	M	0.77616	2.38	0.09310	N	0.999999	B	0.27140	0.169	B	0.20384	0.029	T	0.53287	-0.8460	10	0.56958	D	0.05	.	9.913	0.41417	0.1769:0.0:0.8231:0.0	.	181	A6NFY4	T194B_HUMAN	L	181	ENSP00000386292:S181L	ENSP00000386292:S181L	S	-	2	0	TMEM194B	191090561	0.899000	0.30636	0.016000	0.15963	0.685000	0.39939	2.850000	0.48294	0.733000	0.32492	0.650000	0.86243	TCG	TMEM194B	-	pfam_TMEM194	ENSG00000189362		0.363	TMEM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM194B	HGNC	protein_coding	OTTHUMT00000335299.1	-	0.00	59	0	G	XM_001723498		191382316	-1	tier1	-	no_errors	ENST00000409150	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.009	A
TMEM200B	399474	genome.wustl.edu	37	1	29447700	29447700	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:29447700C>T	ENST00000420504.2	-	2	798	c.641G>A	c.(640-642)cGc>cAc	p.R214H	TMEM200B_ENST00000521452.1_Missense_Mutation_p.R214H	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	214	Pro-rich.					integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TAACCCCAAGCGAGGATTAGC	0.657																																																	0													26.0	28.0	28.0					1																	29447700		2203	4300	6503	SO:0001583	missense	0				CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.641G>A	1.37:g.29447700C>T	ENSP00000428544:p.Arg214His		Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.R214H	ENST00000420504.2	37	c.641	CCDS30658.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113712	0.77210	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	3.84	3.84	0.44239	.	0.453943	0.16964	U	0.192369	T	0.22742	0.0549	N	0.14661	0.345	0.31181	N	0.702019	P	0.39624	0.681	B	0.23852	0.049	T	0.20907	-1.0261	9	0.42905	T	0.14	.	15.2578	0.73599	0.0:1.0:0.0:0.0	.	214	Q69YZ2	T200B_HUMAN	H	214	.	ENSP00000428544:R214H	R	-	2	0	TMEM200B	29320287	0.001000	0.12720	1.000000	0.80357	0.959000	0.62525	0.468000	0.22051	2.123000	0.65237	0.655000	0.94253	CGC	TMEM200B	-	NULL	ENSG00000253304		0.657	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM200B	HGNC	protein_coding	OTTHUMT00000010377.2	-	0.00	53	0	C	NM_001003682		29447700	-1	tier1	-	no_errors	ENST00000420504	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.998	T
TMEM229B	161145	genome.wustl.edu	37	14	67940219	67940219	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:67940219C>T	ENST00000557006.1	-	4	704	c.422G>A	c.(421-423)cGc>cAc	p.R141H	TMEM229B_ENST00000357461.2_Missense_Mutation_p.R141H			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	141						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAAGCGGAGGCGGAGGGTGTT	0.647																																																	0													54.0	55.0	55.0					14																	67940219		2203	4300	6503	SO:0001583	missense	0			AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 83"""	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.422G>A	14.37:g.67940219C>T	ENSP00000451774:p.Arg141His			Missense_Mutation	SNP	pfam_DUF1113_TMEM229	p.R141H	ENST00000557006.1	37	c.422	CCDS9783.1	14	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327010	0.81690	.	.	ENSG00000198133	ENST00000557006;ENST00000357461	.	.	.	4.4	4.4	0.53042	.	0.174028	0.52532	D	0.000069	T	0.53546	0.1803	L	0.39397	1.21	0.80722	D	1	P	0.46064	0.872	B	0.43225	0.412	T	0.61028	-0.7145	9	0.59425	D	0.04	-19.1378	16.9889	0.86348	0.0:1.0:0.0:0.0	.	141	Q8NBD8	T229B_HUMAN	H	141	.	ENSP00000350050:R141H	R	-	2	0	TMEM229B	67009972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.001000	0.58596	0.555000	0.69702	CGC	TMEM229B	-	NULL	ENSG00000198133		0.647	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM229B	HGNC	protein_coding	OTTHUMT00000412718.2	-	0.00	69	0	C	NM_182526		67940219	-1	tier1	-	no_errors	ENST00000357461	ensembl	human	known	74_37	missense	22.41	45	13	SNP	1.000	T
TMEM232	642987	genome.wustl.edu	37	5	109940905	109940905	+	Frame_Shift_Del	DEL	T	T	-	rs376916686		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:109940905delT	ENST00000455884.2	-	10	1231	c.1181delA	c.(1180-1182)aatfs	p.N394fs	TMEM232_ENST00000515518.2_5'UTR|TMEM232_ENST00000429839.2_Frame_Shift_Del_p.N394fs			C9JQI7	TM232_HUMAN	transmembrane protein 232	394						integral component of membrane (GO:0016021)				breast(1)|kidney(2)	3						GTATAAAATATTTTTTTGTGA	0.313																																																	0													54.0	47.0	49.0					5																	109940905		692	1590	2282	SO:0001589	frameshift_variant	0			AK125070	CCDS47253.1, CCDS47253.2	5q22.1	2014-02-12	2009-10-02		ENSG00000186952	ENSG00000186952			37270	protein-coding gene	gene with protein product							Standard	NM_001039763		Approved	FLJ43080	uc011cvh.2	C9JQI7	OTTHUMG00000163297	ENST00000455884.2:c.1181delA	5.37:g.109940905delT	ENSP00000401477:p.Asn394fs		B4DKF4	Frame_Shift_Del	DEL	NULL	p.N394fs	ENST00000455884.2	37	c.1181	CCDS47253.2	5																																																																																			TMEM232	-	NULL	ENSG00000186952		0.313	TMEM232-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TMEM232	HGNC	protein_coding	OTTHUMT00000372488.2		0.00	71	0	T	NM_001039763		109940905	-1	tier1		no_errors	ENST00000429839	ensembl	human	known	74_37	frame_shift_del	16.07	47	9	DEL	0.000	-
TMEM246	84302	genome.wustl.edu	37	9	104238840	104238840	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:104238840G>A	ENST00000374851.1	-	4	1682	c.535C>T	c.(535-537)Cct>Tct	p.P179S	RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.P179S|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.P179S			Q9BRR3	TM246_HUMAN	transmembrane protein 246	179						integral component of membrane (GO:0016021)											TTGGTCGAAGGGTCATCACCA	0.502																																																	0													110.0	92.0	98.0					9																	104238840		2203	4300	6503	SO:0001583	missense	0			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.535C>T	9.37:g.104238840G>A	ENSP00000363984:p.Pro179Ser		Q49AQ4	Missense_Mutation	SNP	NULL	p.P179S	ENST00000374851.1	37	c.535	CCDS6757.1	9	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164385	0.38217	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.5	4.58	0.56647	.	0.531856	0.19205	N	0.120085	T	0.43122	0.1233	N	0.22421	0.69	0.46044	D	0.998832	B	0.27732	0.187	B	0.27500	0.08	T	0.25257	-1.0137	9	0.22109	T	0.4	-12.9652	14.4569	0.67423	0.075:0.0:0.925:0.0	.	179	Q9BRR3	CI125_HUMAN	S	179	.	ENSP00000363980:P179S	P	-	1	0	C9orf125	103278661	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.293000	0.43558	2.747000	0.94245	0.650000	0.86243	CCT	TMEM246	-	NULL	ENSG00000165152		0.502	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM246	HGNC	protein_coding	OTTHUMT00000053444.1	-	0.00	53	0	G	NM_032342		104238840	-1	tier1	-	no_errors	ENST00000374847	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	A
TMEM254	80195	genome.wustl.edu	37	10	81850719	81850719	+	3'UTR	DEL	T	T	-	rs112287062	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:81850719delT	ENST00000372281.3	+	0	448				TMEM254_ENST00000372275.1_3'UTR|TMEM254_ENST00000467529.1_3'UTR	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254							integral component of membrane (GO:0016021)											ATCCTCACCCTTTTTTTTGTG	0.418													|||unknown(NO_COVERAGE)	32	0.00638978	0.0242	0.0	5008	,	,		18077	0.0		0.0	False		,,,				2504	0.0																0										80,4184		0,80,2052	69.0	69.0	69.0			0.1	0.0	10	dbSNP_132	71	19,8235		0,19,4108	no	utr-3	C10orf57	NM_025125.2		0,99,6160	A1A1,A1R,RR		0.2302,1.8762,0.7909			81850719	99,12419	2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 57"""	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.*46T>-	10.37:g.81850719delT			D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	RNA	DEL	-	NULL	ENST00000372281.3	37	NULL	CCDS7363.1	10																																																																																			TMEM254	-	-	ENSG00000133678		0.418	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM254	HGNC	protein_coding	OTTHUMT00000049030.1		0.00	67	0	T	NM_025125		81850719	+1	tier1		no_errors	ENST00000463029	ensembl	human	known	74_37	rna	24.07	41	13	DEL	0.071	-
TMEM52B	120939	genome.wustl.edu	37	12	10342726	10342726	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:10342726A>G	ENST00000381923.2	+	6	943	c.539A>G	c.(538-540)gAc>gGc	p.D180G	TMEM52B_ENST00000536952.1_Missense_Mutation_p.D180G|TMEM52B_ENST00000298530.3_Missense_Mutation_p.D160G			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	180						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CGAATAGTTGACTCTTGGAAC	0.463																																																	0													58.0	60.0	59.0					12																	10342726		2203	4300	6503	SO:0001583	missense	0			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.539A>G	12.37:g.10342726A>G	ENSP00000371348:p.Asp180Gly		Q96NA7	Missense_Mutation	SNP	NULL	p.D180G	ENST00000381923.2	37	c.539		12	.	.	.	.	.	.	.	.	.	.	A	3.189	-0.166250	0.06461	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	.	.	.	4.07	-2.61	0.06171	.	1.848190	0.02585	N	0.099241	T	0.22437	0.0541	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13899	-1.0492	9	0.22706	T	0.39	0.3579	7.6388	0.28282	0.242:0.5802:0.1778:0.0	.	180;160	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	G	180;160;180	.	ENSP00000298530:D160G	D	+	2	0	C12orf59	10233993	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.477000	0.06583	-0.491000	0.06697	-0.399000	0.06403	GAC	TMEM52B	-	NULL	ENSG00000165685		0.463	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	TMEM52B	HGNC	protein_coding	OTTHUMT00000399645.1	-	0.00	33	0	A	NM_153022		10342726	+1	tier1	-	no_errors	ENST00000381923	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.000	G
TMEM59	9528	genome.wustl.edu	37	1	54502396	54502396	+	Intron	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:54502396delA	ENST00000234831.5	-	7	957				TMEM59_ENST00000371344.1_Intron|TMEM59_ENST00000470395.1_5'UTR|TMEM59_ENST00000371348.1_Intron|TMEM59_ENST00000371341.1_Intron	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59						autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						GAGTTACTGGAAAAAAAAAAT	0.328																																																	0										51,129,4086		0,0,51,0,129,1953	37.0	35.0	36.0			-3.2	0.0	1		38	78,285,7891		0,0,78,0,285,3764	no	intron	TMEM59	NM_004872.3		0,0,129,0,414,5717	A1A1,A1A2,A1R,A2A2,A2R,RR		4.3979,4.2194,4.3371			54502396	129,414,11977	2203	4300	6503	SO:0001627	intron_variant	0			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.708-5T>-	1.37:g.54502396delA			B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	RNA	DEL	-	NULL	ENST00000234831.5	37	NULL	CCDS586.1	1																																																																																			TMEM59	-	-	ENSG00000116209		0.328	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM59	HGNC	protein_coding	OTTHUMT00000023254.2		0.00	27	0	A	NM_004872		54502396	-1	tier1		no_errors	ENST00000470395	ensembl	human	known	74_37	rna	20.83	19	5	DEL	0.000	-
TMEM63A	9725	genome.wustl.edu	37	1	226040372	226040372	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:226040372C>T	ENST00000366835.3	-	20	2166	c.1896G>A	c.(1894-1896)gcG>gcA	p.A632A		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	632					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCAAATGGCGCGATGATGG	0.552																																																	0													139.0	97.0	112.0					1																	226040372		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1896G>A	1.37:g.226040372C>T			Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	pfam_DUF221	p.A632	ENST00000366835.3	37	c.1896	CCDS31042.1	1																																																																																			TMEM63A	-	pfam_DUF221	ENSG00000196187		0.552	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	-	0.00	40	0	C	NM_014698		226040372	-1	tier1	-	no_errors	ENST00000366835	ensembl	human	known	74_37	silent	10.87	41	5	SNP	0.912	T
TMEM63A	9725	genome.wustl.edu	37	1	226053805	226053805	+	Intron	DEL	G	G	-	rs7515156	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:226053805delG	ENST00000366835.3	-	10	946				TMEM63A_ENST00000537914.1_Intron|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TTCTGTGGCCGGGGGAGCCCC	0.507																																																	0																																										SO:0001627	intron_variant	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.676-138C>-	1.37:g.226053805delG			Q53GI7|Q5TE96|Q8N2U2	RNA	DEL	-	NULL	ENST00000366835.3	37	NULL	CCDS31042.1	1																																																																																			TMEM63A	-	-	ENSG00000196187		0.507	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2		0.00	23	0	G	NM_014698		226053805	-1	tier1		no_errors	ENST00000474478	ensembl	human	known	74_37	rna	13.79	25	4	DEL	0.000	-
TMEM63C	57156	genome.wustl.edu	37	14	77719651	77719653	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:77719651_77719653delGAG	ENST00000298351.4	+	23	2296_2298	c.2152_2154delGAG	c.(2152-2154)gagdel	p.E721del		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	721					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCTGCAGCCCGAGGAGGAGGAGA	0.621																																																	0																																										SO:0001651	inframe_deletion	0				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2152_2154delGAG	14.37:g.77719660_77719662delGAG	ENSP00000298351:p.Glu721del		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	In_Frame_Del	DEL	pfam_DUF221	p.E721in_frame_del	ENST00000298351.4	37	c.2152_2154	CCDS45141.1	14																																																																																			TMEM63C	-	NULL	ENSG00000165548		0.621	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1		0.00	33	0	GAG			77719653	+1	tier1		no_errors	ENST00000298351	ensembl	human	known	74_37	in_frame_del	13.33	39	6	DEL	0.827:0.901:0.910	-
TMEM69	51249	genome.wustl.edu	37	1	46158997	46158997	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:46158997C>T	ENST00000372025.4	+	3	1321	c.164C>T	c.(163-165)cCa>cTa	p.P55L	TMEM69_ENST00000496366.1_3'UTR|RP11-767N6.7_ENST00000430643.1_RNA	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	55						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					TCATCATTTCCAGCGTATATG	0.468																																																	0													279.0	274.0	276.0					1																	46158997		1943	4153	6096	SO:0001583	missense	0			BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 154"""	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.164C>T	1.37:g.46158997C>T	ENSP00000361095:p.Pro55Leu		Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	pfam_DUF3429	p.P55L	ENST00000372025.4	37	c.164	CCDS41325.1	1	.	.	.	.	.	.	.	.	.	.	C	8.625	0.892262	0.17613	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.82	3.57	0.40892	.	0.243646	0.41294	D	0.000920	T	0.30293	0.0760	N	0.19112	0.55	0.32379	N	0.554758	B	0.20887	0.049	B	0.19666	0.026	T	0.31943	-0.9925	9	0.19590	T	0.45	-4.7031	11.548	0.50704	0.1305:0.7948:0.0:0.0747	.	55	Q5SWH9	TMM69_HUMAN	L	55	.	ENSP00000361095:P55L	P	+	2	0	TMEM69	45931584	0.984000	0.35163	0.980000	0.43619	0.020000	0.10135	1.854000	0.39368	1.406000	0.46857	0.561000	0.74099	CCA	TMEM69	-	NULL	ENSG00000159596		0.468	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM69	HGNC	protein_coding	OTTHUMT00000098390.1	-	0.00	39	0	C	NM_016486		46158997	+1	tier1	-	no_errors	ENST00000372025	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.899	T
TMEM95	339168	genome.wustl.edu	37	17	7259514	7259514	+	Splice_Site	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7259514delG	ENST00000576060.1	+	5	355		c.e5-1		RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_Splice_Site|TMEM95_ENST00000330767.4_Frame_Shift_Del_p.G119fs			Q3KNT9	TMM95_HUMAN	transmembrane protein 95							integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				GTCTCCTGCAGGGGGCAGCAC	0.677											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													31.0	33.0	33.0					17																	7259514		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.329-1G>-	17.37:g.7259514delG		640	B7WPI7|Q6UXT3|Q8IW68	Frame_Shift_Del	DEL	NULL	p.G119fs	ENST00000576060.1	37	c.352		17																																																																																			TMEM95	-	NULL	ENSG00000182896		0.677	TMEM95-003	KNOWN	basic	protein_coding	TMEM95	HGNC	protein_coding	OTTHUMT00000440555.2		0.00	25	0	G	NM_198154	Intron	7259514	+1	tier1		no_errors	ENST00000330767	ensembl	human	known	74_37	frame_shift_del	17.39	19	4	DEL	1.000	-
TMEM97	27346	genome.wustl.edu	37	17	26653807	26653807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:26653807delA	ENST00000226230.6	+	3	664	c.519delA	c.(517-519)agafs	p.R173fs	TMEM97_ENST00000583381.1_Frame_Shift_Del_p.R66fs|TMEM97_ENST00000336687.6_Frame_Shift_Del_p.R66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AAGAGAAAAGAAAAAAAAAAT	0.438																																																	1	Deletion - Frameshift(1)	lung(1)								25,25,4214		0,0,25,0,25,2082	59.0	56.0	57.0			2.6	1.0	17		58	45,41,8168		0,0,45,0,41,4041	no	codingComplex	TMEM97	NM_014573.2		0,0,70,0,66,6123	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0419,1.1726,1.0864			26653807	70,66,12382	2203	4300	6503	SO:0001589	frameshift_variant	0			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.519delA	17.37:g.26653807delA	ENSP00000226230:p.Arg173fs		B4DS02|Q07823	Frame_Shift_Del	DEL	pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97	p.K176fs	ENST00000226230.6	37	c.519	CCDS11226.2	17																																																																																			TMEM97	-	pirsf_Transmembrane_6/97	ENSG00000109084		0.438	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM97	HGNC	protein_coding	OTTHUMT00000255675.2		0.00	21	0	A	NM_014573		26653807	+1	tier1		no_errors	ENST00000226230	ensembl	human	known	74_37	frame_shift_del	43.75	9	7	DEL	1.000	-
TMPRSS11A	339967	genome.wustl.edu	37	4	68780360	68780360	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:68780360T>C	ENST00000334830.7	-	9	1796	c.1050A>G	c.(1048-1050)atA>atG	p.I350M	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.I346M|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.I347M			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	350	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TTCCAGGTTTTATATCATTGC	0.378																																					NSCLC(26;2 894 10941 14480 22546)												0													137.0	130.0	132.0					4																	68780360		2203	4300	6503	SO:0001583	missense	0			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1050A>G	4.37:g.68780360T>C	ENSP00000334611:p.Ile350Met		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I350M	ENST00000334830.7	37	c.1050	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	T	13.22	2.170825	0.38315	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.93	3.31	0.37934	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000007	D	0.93334	0.7875	M	0.78456	2.415	0.36413	D	0.863848	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94845	0.8008	10	0.87932	D	0	.	10.8834	0.46953	0.0:0.0:0.2995:0.7005	.	347;350	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	M	346;350;347;314	ENSP00000426911:I346M;ENSP00000334611:I350M;ENSP00000379491:I347M;ENSP00000427621:I314M	ENSP00000334611:I350M	I	-	3	3	TMPRSS11A	68462955	0.638000	0.27225	0.976000	0.42696	0.085000	0.17905	-0.220000	0.09215	1.035000	0.39972	0.482000	0.46254	ATA	TMPRSS11A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1	ENSG00000187054		0.378	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	-	0.00	68	0	T	NM_182606		68780360	-1	tier1	-	no_errors	ENST00000334830	ensembl	human	known	74_37	missense	27.42	45	17	SNP	0.994	C
TMPRSS12	283471	genome.wustl.edu	37	12	51252715	51252715	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:51252715delA	ENST00000398458.3	+	3	563	c.531delA	c.(529-531)ttafs	p.L177fs	TMPRSS12_ENST00000551456.1_Frame_Shift_Del_p.L177fs	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	177	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TTTTTCACTTAAAAAAAGCAG	0.323																																																	0													39.0	36.0	37.0					12																	51252715		1810	4071	5881	SO:0001589	frameshift_variant	0			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.531delA	12.37:g.51252715delA	ENSP00000381476:p.Leu177fs		B9ZVX2	Frame_Shift_Del	DEL	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A180fs	ENST00000398458.3	37	c.531	CCDS44881.1	12																																																																																			TMPRSS12	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000186452		0.323	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS12	HGNC	protein_coding	OTTHUMT00000404289.1		0.00	65	0	A	NM_182559		51252715	+1	tier1		no_errors	ENST00000398458	ensembl	human	known	74_37	frame_shift_del	29.58	50	21	DEL	1.000	-
TMPRSS4	56649	genome.wustl.edu	37	11	117985923	117985923	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:117985923T>A	ENST00000437212.3	+	11	1294	c.1080T>A	c.(1078-1080)gaT>gaA	p.D360E	TMPRSS4_ENST00000534111.1_Missense_Mutation_p.D358E|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.D213E|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.D320E|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.D355E|TMPRSS4_ENST00000518413.2_Intron			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	360	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		ATGCAGACGATGCGTACCAGG	0.562																																																	0													102.0	77.0	85.0					11																	117985923		2200	4296	6496	SO:0001583	missense	0			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.1080T>A	11.37:g.117985923T>A	ENSP00000416037:p.Asp360Glu		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D360E	ENST00000437212.3	37	c.1080	CCDS31684.1	11	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525789	0.44969	.	.	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.26	0.0272	0.14153	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000033	T	0.37489	0.1005	N	0.14661	0.345	0.09310	N	1	P;B;P;P;P	0.47034	0.889;0.143;0.733;0.668;0.859	P;B;B;B;B	0.53861	0.736;0.123;0.287;0.288;0.41	T	0.42344	-0.9457	10	0.06625	T	0.88	.	0.9957	0.01466	0.1514:0.2813:0.1564:0.4109	.	335;320;213;360;358	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	E	358;213;320;360;355	ENSP00000435184:D358E;ENSP00000428814:D213E;ENSP00000429209:D320E;ENSP00000416037:D360E;ENSP00000430547:D355E	ENSP00000416037:D360E	D	+	3	2	TMPRSS4	117491133	0.005000	0.15991	0.989000	0.46669	0.691000	0.40173	-1.029000	0.03585	0.320000	0.23234	0.459000	0.35465	GAT	TMPRSS4	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000137648		0.562	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS4	HGNC	protein_coding	OTTHUMT00000377328.2	-	0.00	49	0	T	NM_019894		117985923	+1	tier1	-	no_errors	ENST00000437212	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.120	A
TMPRSS7	344805	genome.wustl.edu	37	3	111764731	111764731	+	Missense_Mutation	SNP	G	G	A	rs376478648		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:111764731G>A	ENST00000452346.2	+	5	635	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R98Q			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	211	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATCATAAACCGGACCTCTGTG	0.493																																																	0								G	GLN/ARG	0,1384		0,0,692	211.0	186.0	193.0		293	5.1	1.0	3		193	1,3181		0,1,1590	no	missense	TMPRSS7	NM_001042575.2	43	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	probably-damaging	98/718	111764731	1,4565	692	1591	2283	SO:0001583	missense	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.632G>A	3.37:g.111764731G>A	ENSP00000398236:p.Arg211Gln		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.R98Q	ENST00000452346.2	37	c.293		3	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924859	0.92319	0.0	3.14E-4	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127;ENST00000460599	T;T;T	0.40225	1.04;1.04;1.04	5.06	5.06	0.68205	.	.	.	.	.	T	0.51584	0.1683	L	0.29908	0.895	0.39442	D	0.967261	D	0.89917	1.0	D	0.83275	0.996	T	0.43734	-0.9373	9	0.30078	T	0.28	.	15.8068	0.78520	0.0:0.0:1.0:0.0	.	98	Q7RTY8-2	.	Q	211;198;198;98;74	ENSP00000398236:R211Q;ENSP00000411645:R98Q;ENSP00000447563:R74Q	ENSP00000411645:R98Q	R	+	2	0	TMPRSS7	113247421	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.709000	0.84645	2.763000	0.94921	0.655000	0.94253	CGG	TMPRSS7	-	NULL	ENSG00000176040		0.493	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	-	0.00	128	0	G	XM_293599		111764731	+1	tier1	-	no_errors	ENST00000419127	ensembl	human	known	74_37	missense	24.82	102	34	SNP	1.000	A
TMPRSS9	360200	genome.wustl.edu	37	19	2405411	2405411	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:2405411T>C	ENST00000332578.3	+	6	608	c.608T>C	c.(607-609)aTc>aCc	p.I203T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	203	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.	Cleavage. {ECO:0000255}.			plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGCAGGATCGTGGGCGGC	0.637																																																	0													79.0	77.0	78.0					19																	2405411		2203	4300	6503	SO:0001583	missense	0			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.608T>C	19.37:g.2405411T>C	ENSP00000330264:p.Ile203Thr		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.I203T	ENST00000332578.3	37	c.608	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	T	15.26	2.780203	0.49891	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.67523	-0.27	4.43	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48767	D	0.000166	D	0.86083	0.5848	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89824	0.3991	10	0.87932	D	0	.	12.7846	0.57498	0.0:0.0:0.0:1.0	.	203;237	Q7Z410;E7EMP4	TMPS9_HUMAN;.	T	237;203	ENSP00000330264:I203T	ENSP00000330264:I203T	I	+	2	0	TMPRSS9	2356411	1.000000	0.71417	0.995000	0.50966	0.015000	0.08874	7.719000	0.84751	1.776000	0.52262	0.397000	0.26171	ATC	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178297		0.637	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	-	0.00	66	0	T	NM_182973		2405411	+1	tier1	-	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	22.45	38	11	SNP	0.999	C
TMTC1	83857	genome.wustl.edu	37	12	29670503	29670503	+	Splice_Site	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:29670503C>T	ENST00000539277.1	-	14	2084	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	TMTC1_ENST00000552618.1_Splice_Site_p.A700T|TMTC1_ENST00000551659.1_Splice_Site_p.A738T|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Splice_Site_p.A568T	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	676						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACCTGCAGGGCGCTGAGTTTG	0.443																																																	0													109.0	102.0	105.0					12																	29670503		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2025-1G>A	12.37:g.29670503C>T			D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A568T	ENST00000539277.1	37	c.1702	CCDS53772.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.249561	0.95305	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.80393	-1.37;-1.37;-0.09;-1.37	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.90699	0.4619	9	.	.	.	-15.9447	18.2616	0.90038	0.0:1.0:0.0:0.0	.	676;738;21	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	T	439;568;738;700;676	ENSP00000256062:A568T;ENSP00000448112:A738T;ENSP00000449043:A700T;ENSP00000442046:A676T	.	A	-	1	0	TMTC1	29561770	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	6.788000	0.75105	2.649000	0.89929	0.650000	0.86243	GCC	TMTC1	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000133687		0.443	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1	-	0.00	31	0	C	NM_031920	Missense_Mutation	29670503	-1	tier1	-	no_errors	ENST00000256062	ensembl	human	known	74_37	missense	20.00	23	6	SNP	1.000	T
TNFRSF12A	51330	genome.wustl.edu	37	16	3071775	3071775	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:3071775C>T	ENST00000326577.4	+	4	424	c.338C>T	c.(337-339)cCc>cTc	p.P113L	THOC6_ENST00000253952.9_5'Flank|TNFRSF12A_ENST00000575124.1_Silent_p.P167P|THOC6_ENST00000575576.1_5'Flank|TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.P64L|TNFRSF12A_ENST00000341627.5_Missense_Mutation_p.P78L|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000326266.8_5'Flank|CLDN6_ENST00000396925.1_5'Flank	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	113					angiogenesis (GO:0001525)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of angiogenesis (GO:0045765)|regulation of wound healing (GO:0061041)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				lung(1)|skin(1)	2						CTTGCAGCCCCCATAGAGGAG	0.607											OREG0023566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													62.0	62.0	62.0					16																	3071775		2198	4300	6498	SO:0001583	missense	0			AB035480	CCDS10489.1	16p13.3	2008-02-05			ENSG00000006327	ENSG00000006327		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18152	protein-coding gene	gene with protein product		605914				10751351, 10551889	Standard	NM_016639		Approved	FN14, TweakR, CD266	uc002csv.4	Q9NP84	OTTHUMG00000129001	ENST00000326577.4:c.338C>T	16.37:g.3071775C>T	ENSP00000326737:p.Pro113Leu	608	D3DUA6|Q9HCS0	Missense_Mutation	SNP	pfam_TNFR_12,prints_TNFR_12	p.P113L	ENST00000326577.4	37	c.338	CCDS10489.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269397	0.80469	.	.	ENSG00000006327	ENST00000326577;ENST00000341627	.	.	.	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000005	T	0.65238	0.2672	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68315	-0.5441	9	0.87932	D	0	-8.5671	12.7699	0.57415	0.0:1.0:0.0:0.0	.	78;113	Q9NP84-2;Q9NP84	.;TNR12_HUMAN	L	113;78	.	ENSP00000326737:P113L	P	+	2	0	TNFRSF12A	3011776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.468000	0.60162	2.375000	0.81037	0.561000	0.74099	CCC	TNFRSF12A	-	pfam_TNFR_12,prints_TNFR_12	ENSG00000006327		0.607	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF12A	HGNC	protein_coding	OTTHUMT00000250990.1	-	0.00	62	0	C			3071775	+1	tier1	-	no_errors	ENST00000326577	ensembl	human	known	74_37	missense	14.29	48	8	SNP	1.000	T
TNFRSF8	943	genome.wustl.edu	37	1	12195644	12195644	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:12195644G>T	ENST00000263932.2	+	13	1531		c.e13-1		TNFRSF8_ENST00000417814.2_Splice_Site|TNFRSF8_ENST00000479933.2_Splice_Site|TNFRSF8_ENST00000413146.2_Splice_Site	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8						cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GCTTTTTGCAGATTCCAGACC	0.572																																																	0													85.0	72.0	77.0					1																	12195644		2203	4300	6503	SO:0001630	splice_region_variant	0			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1310-1G>T	1.37:g.12195644G>T			B1AN79|B9EGD9|D3YTD8|Q6P4D9	Splice_Site	SNP	-	e13-1	ENST00000263932.2	37	c.1310-1	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.788173	0.49997	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4761	0.50300	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNFRSF8	12118231	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	4.072000	0.57563	2.164000	0.68074	0.297000	0.19635	.	TNFRSF8	-	-	ENSG00000120949		0.572	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	-	0.00	163	0	G		Intron	12195644	+1	tier1	-	no_errors	ENST00000263932	ensembl	human	known	74_37	splice_site	11.03	121	15	SNP	1.000	T
TNFSF12	8742	genome.wustl.edu	37	17	7460641	7460641	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7460641T>C	ENST00000293825.6	+	7	987	c.724T>C	c.(724-726)Tac>Cac	p.Y242H	TNFSF13_ENST00000396545.4_5'Flank|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000338784.4_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000380535.4_5'Flank|TNFSF13_ENST00000483039.1_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000349228.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	242					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CTTCCTCACCTACTTCGGACT	0.692																																																	0													39.0	38.0	38.0					17																	7460641		2203	4300	6503	SO:0001583	missense	0			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.724T>C	17.37:g.7460641T>C	ENSP00000293825:p.Tyr242His		Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	p.Y242H	ENST00000293825.6	37	c.724	CCDS11109.1	17	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087489	0.76642	.	.	ENSG00000239697	ENST00000293825	D	0.95690	-3.78	4.76	3.67	0.42095	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	.	.	.	.	D	0.94571	0.8251	L	0.48642	1.525	0.80722	D	1	P	0.41624	0.757	P	0.50934	0.654	D	0.94191	0.7441	9	0.87932	D	0	.	9.1418	0.36908	0.0:0.0893:0.0:0.9106	.	242	O43508	TNF12_HUMAN	H	242	ENSP00000293825:Y242H	ENSP00000293825:Y242H	Y	+	1	0	TNFSF12	7401365	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.259000	0.43259	1.917000	0.55516	0.459000	0.35465	TAC	TNFSF12	-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	ENSG00000239697		0.692	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF12	HGNC	protein_coding	OTTHUMT00000226951.2	-	0.00	13	0	T	NM_003809		7460641	+1	tier1	-	no_errors	ENST00000293825	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	C
TNFSF8	944	genome.wustl.edu	37	9	117692515	117692515	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:117692515C>T	ENST00000223795.2	-	1	182	c.69G>A	c.(67-69)ccG>ccA	p.P23P		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	23					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CGGAGCCCGCCGGCACATGCA	0.582																																																	0													71.0	74.0	73.0					9																	117692515		2203	4300	6503	SO:0001819	synonymous_variant	0			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.69G>A	9.37:g.117692515C>T			O43404	Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_CD30_ligand_type,pfscan_TNF_dom	p.P23	ENST00000223795.2	37	c.69	CCDS6810.1	9																																																																																			TNFSF8	-	pirsf_TNF_CD30_ligand_type	ENSG00000106952		0.582	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF8	HGNC	protein_coding	OTTHUMT00000055464.1		0.00	58	0	C			117692515	-1			no_errors	ENST00000223795	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.000	T
TNFSF9	8744	genome.wustl.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																																	0																																										SO:0001651	inframe_deletion	0			U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del		Q2M3S2	In_Frame_Del	DEL	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	p.L38in_frame_del	ENST00000245817.3	37	c.102_104	CCDS12169.1	19																																																																																			TNFSF9	-	NULL	ENSG00000125657		0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF9	HGNC	protein_coding	OTTHUMT00000457856.1		0.00	20	0	GCT	NM_003811		6531151	+1			no_errors	ENST00000245817	ensembl	human	known	74_37	in_frame_del	22.22	7	2	DEL	0.039:0.043:0.048	0
TNRC6B	23112	genome.wustl.edu	37	22	40657941	40657941	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:40657941C>T	ENST00000454349.2	+	4	432	c.221C>T	c.(220-222)gCa>gTa	p.A74V	TNRC6B_ENST00000335727.9_Missense_Mutation_p.A74V|TNRC6B_ENST00000402203.1_Missense_Mutation_p.A110V|TNRC6B_ENST00000301923.9_Missense_Mutation_p.A110V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	74	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						AAAAGGGTGGCAGTGCCGAAC	0.587																																																	0													22.0	27.0	25.0					22																	40657941		1967	4143	6110	SO:0001583	missense	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.221C>T	22.37:g.40657941C>T	ENSP00000401946:p.Ala74Val		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.A74V	ENST00000454349.2	37	c.221	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.615057	0.96649	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	L	0.42245	1.32	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.77557	0.956;0.99;0.99	T	0.22836	-1.0205	10	0.56958	D	0.05	-6.1862	20.3213	0.98679	0.0:1.0:0.0:0.0	.	74;74;110	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	V	110;110;74;74;74	ENSP00000306759:A110V;ENSP00000384795:A110V;ENSP00000401946:A74V;ENSP00000338371:A74V	ENSP00000306759:A110V	A	+	2	0	TNRC6B	38987887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.260000	0.78391	2.810000	0.96702	0.650000	0.86243	GCA	TNRC6B	-	NULL	ENSG00000100354		0.587	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		-	0.00	143	0	C			40657941	+1	tier1	-	no_errors	ENST00000454349	ensembl	human	known	74_37	missense	11.11	144	18	SNP	1.000	T
TNS3	64759	genome.wustl.edu	37	7	47408140	47408140	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:47408140C>T	ENST00000398879.1	-	17	2469	c.2103G>A	c.(2101-2103)caG>caA	p.Q701Q	TNS3_ENST00000311160.9_Silent_p.Q701Q|TNS3_ENST00000355730.3_Silent_p.Q461Q			Q68CZ2	TENS3_HUMAN	tensin 3	701					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCCTGTTGAGCTGCTCGATGG	0.627																																																	0													127.0	145.0	139.0					7																	47408140		2063	4212	6275	SO:0001819	synonymous_variant	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2103G>A	7.37:g.47408140C>T			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q701	ENST00000398879.1	37	c.2103	CCDS5506.2	7																																																																																			TNS3	-	NULL	ENSG00000136205		0.627	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	-	0.00	77	0	C	NM_022748		47408140	-1	tier1	-	no_errors	ENST00000311160	ensembl	human	known	74_37	silent	11.94	59	8	SNP	1.000	T
TNXB	7148	genome.wustl.edu	37	6	32010327	32010327	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:32010327C>T	ENST00000375244.3	-	40	12316	c.12115G>A	c.(12115-12117)Ggt>Agt	p.G4039S	TNXB_ENST00000451343.1_Missense_Mutation_p.G468S|TNXB_ENST00000375247.2_Missense_Mutation_p.G4037S			P22105	TENX_HUMAN	tenascin XB	4084	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGGAGGCACCGGCTCCGTTC	0.657																																																	0													29.0	21.0	24.0					6																	32010327		1506	2704	4210	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.12115G>A	6.37:g.32010327C>T	ENSP00000364393:p.Gly4039Ser		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.G4037S	ENST00000375244.3	37	c.12109		6	.	.	.	.	.	.	.	.	.	.	c	0.434	-0.901788	0.02453	.	.	ENSG00000168477	ENST00000375244;ENST00000451343;ENST00000375247	T;T;T	0.76186	-1.0;-1.0;-1.0	4.45	-5.74	0.02391	.	0.923247	0.09083	N	0.850957	T	0.32041	0.0816	L	0.28400	0.85	0.09310	N	1	B	0.19706	0.038	B	0.17433	0.018	T	0.38887	-0.9640	10	0.07482	T	0.82	.	12.7956	0.57558	0.0:0.3502:0.0:0.6498	.	4037	P22105-3	.	S	4039;468;4037	ENSP00000364393:G4039S;ENSP00000407685:G468S;ENSP00000364396:G4037S	ENSP00000364393:G4039S	G	-	1	0	TNXB	32118306	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-5.261000	0.00136	-1.266000	0.02446	0.558000	0.71614	GGT	TNXB	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000168477		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0.00	55	0	C	NM_019105		32010327	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	24.59	45	15	SNP	0.000	T
TNXB	7148	genome.wustl.edu	37	6	32030199	32030199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:32030199delG	ENST00000375244.3	-	20	7104	c.6903delC	c.(6901-6903)cccfs	p.P2301fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.P2301fs			P22105	TENX_HUMAN	tenascin XB	2363	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGGCTTGATGGGGGGTTCAG	0.607																																																	0													39.0	44.0	42.0					6																	32030199		1318	2560	3878	SO:0001589	frameshift_variant	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6903delC	6.37:g.32030199delG	ENSP00000364393:p.Pro2301fs		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.I2302fs	ENST00000375244.3	37	c.6903		6																																																																																			TNXB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2		0.00	60	0	G	NM_019105		32030199	-1	tier1		no_errors	ENST00000375247	ensembl	human	known	74_37	frame_shift_del	18.64	48	11	DEL	0.002	-
TOP3B	8940	genome.wustl.edu	37	22	22318305	22318305	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:22318305C>A	ENST00000398793.2	-	11	1628	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	TOP3B_ENST00000357179.5_Missense_Mutation_p.E398D|TOP3B_ENST00000413067.2_Missense_Mutation_p.E127D	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	398					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CTAATTCGGCCTCTGTGGCAG	0.612																																																	0													83.0	76.0	78.0					22																	22318305		2203	4300	6503	SO:0001583	missense	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1194G>T	22.37:g.22318305C>A	ENSP00000381773:p.Glu398Asp		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.E398D	ENST00000398793.2	37	c.1194	CCDS13797.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.14|15.14	2.746306|2.746306	0.49257|0.49257	.|.	.|.	ENSG00000100038|ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067|ENST00000457270	T;T;T|.	0.23950|.	1.88;1.88;1.88|.	4.48|4.48	1.21|1.21	0.21127|0.21127	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);|.	0.103338|.	0.64402|.	D|.	0.000003|.	T|T	0.51075|0.51075	0.1653|0.1653	L|L	0.41824|0.41824	1.3|1.3	0.49798|0.49798	D|D	0.999829|0.999829	B;B|.	0.25105|.	0.118;0.036|.	B;B|.	0.30646|.	0.118;0.042|.	T|T	0.34477|0.34477	-0.9827|-0.9827	10|5	0.39692|.	T|.	0.17|.	.|.	8.0672|8.0672	0.30667|0.30667	0.0:0.5896:0.0:0.4104|0.0:0.5896:0.0:0.4104	.|.	398;398|.	O95985;O95985-2|.	TOP3B_HUMAN;.|.	D|M	398;398;127|193	ENSP00000349705:E398D;ENSP00000381773:E398D;ENSP00000393118:E127D|.	ENSP00000349705:E398D|.	E|R	-|-	3|2	2|0	TOP3B|TOP3B	20648305|20648305	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.869000|0.869000	0.49853|0.49853	1.233000|1.233000	0.32648|0.32648	0.246000|0.246000	0.21394|0.21394	-0.137000|-0.137000	0.14449|0.14449	GAG|AGG	TOP3B	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd	ENSG00000100038		0.612	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	-	0.00	23	0	C	NM_003935		22318305	-1	tier1	-	no_errors	ENST00000357179	ensembl	human	known	74_37	missense	42.11	11	8	SNP	0.997	A
TOPBP1	11073	genome.wustl.edu	37	3	133331322	133331322	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:133331322C>T	ENST00000260810.5	-	24	4077	c.3946G>A	c.(3946-3948)Gag>Aag	p.E1316K		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1316	BRCT 7. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAATACTTCTCGTTTCGAAGT	0.483								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													77.0	80.0	79.0					3																	133331322		1998	4183	6181	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3946G>A	3.37:g.133331322C>T	ENSP00000260810:p.Glu1316Lys		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.E1316K	ENST00000260810.5	37	c.3946	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.501117	0.96371	.	.	ENSG00000163781	ENST00000260810	T	0.58060	0.36	5.48	5.48	0.80851	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.82446	-0.0453	10	0.62326	D	0.03	.	19.3587	0.94425	0.0:1.0:0.0:0.0	.	1316	Q92547	TOPB1_HUMAN	K	1316	ENSP00000260810:E1316K	ENSP00000260810:E1316K	E	-	1	0	TOPBP1	134814012	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.811000	0.86092	2.573000	0.86826	0.655000	0.94253	GAG	TOPBP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.483	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	-	0.00	23	0	C	NM_007027		133331322	-1	tier1	-	no_errors	ENST00000260810	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	T
TP53BP1	7158	genome.wustl.edu	37	15	43748969	43748969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:43748969C>A	ENST00000263801.3	-	12	2074	c.1822G>T	c.(1822-1824)Gaa>Taa	p.E608*	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E613*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E613*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E613*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	608					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACCGTTTCTTCTCTGCCCTTG	0.453								Other conserved DNA damage response genes																																									0													192.0	163.0	173.0					15																	43748969		2201	4298	6499	SO:0001587	stop_gained	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1822G>T	15.37:g.43748969C>A	ENSP00000263801:p.Glu608*		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.E613*	ENST00000263801.3	37	c.1837	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.735444	0.98459	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	4.8	4.8	0.61643	.	0.156786	0.42548	D	0.000690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-12.8477	10.8222	0.46612	0.0:0.9125:0.0:0.0875	.	.	.	.	X	608;613;613;613;613	.	ENSP00000263801:E608X	E	-	1	0	TP53BP1	41536261	0.999000	0.42202	1.000000	0.80357	0.901000	0.52897	1.797000	0.38804	2.370000	0.80446	0.563000	0.77884	GAA	TP53BP1	-	NULL	ENSG00000067369		0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	-	0.00	40	0	C			43748969	-1	tier1	-	no_errors	ENST00000382044	ensembl	human	known	74_37	nonsense	22.03	46	13	SNP	1.000	A
TP53INP1	94241	genome.wustl.edu	37	8	95952411	95952411	+	Silent	SNP	T	T	C	rs548441545|rs563445319	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:95952411T>C	ENST00000342697.4	-	3	557	c.150A>G	c.(148-150)gaA>gaG	p.E50E	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.E50E|TP53INP1_ENST00000448464.2_Silent_p.E50E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TGTCCTCCTCTTCTTCTTCTT	0.463													T|||	1	0.000199681	0.0	0.0014	5008	,	,		21718	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	large_intestine(1)											107.0	117.0	114.0					8																	95952411		2203	4300	6503	SO:0001819	synonymous_variant	0			AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150A>G	8.37:g.95952411T>C			B2RCE5|Q969R9	Silent	SNP	NULL	p.E50	ENST00000342697.4	37	c.150	CCDS6265.1	8																																																																																			TP53INP1	-	NULL	ENSG00000164938		0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP1	HGNC	protein_coding	OTTHUMT00000379818.1	-	0.00	44	0	T			95952411	-1	tier1	-	no_errors	ENST00000342697	ensembl	human	known	74_37	silent	44.68	26	21	SNP	0.009	C
TPO	7173	genome.wustl.edu	37	2	1442587	1442587	+	Intron	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:1442587G>T	ENST00000345913.4	+	5	573				TPO_ENST00000329066.4_Intron|TPO_ENST00000382201.3_Intron|TPO_ENST00000539820.1_Splice_Site|TPO_ENST00000346956.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron|TPO_ENST00000382269.3_Splice_Site|TPO_ENST00000349624.3_Intron|TPO_ENST00000382198.1_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase						cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ctggattaaagaaaaatgaaa	0.373																																																	0																																										SO:0001627	intron_variant	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.482+2431G>T	2.37:g.1442587G>T			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Splice_Site	SNP	-	e5-1	ENST00000345913.4	37	c.483-1	CCDS1643.1	2																																																																																			TPO	-	-	ENSG00000115705		0.373	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	-	0.00	59	0	G	NM_000547		1442587	+1	tier1	-	no_errors	ENST00000539820	ensembl	human	known	74_37	splice_site	19.12	48	13	SNP	0.241	T
TPR	7175	genome.wustl.edu	37	1	186312523	186312523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:186312523C>A	ENST00000367478.4	-	27	3981	c.3685G>T	c.(3685-3687)Gaa>Taa	p.E1229*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1229	Necessary for interaction with HSF1.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTAAAAGTTCAACCCTTTGT	0.383			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													138.0	133.0	135.0					1																	186312523		1931	4147	6078	SO:0001587	stop_gained	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3685G>T	1.37:g.186312523C>A	ENSP00000356448:p.Glu1229*		Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E1229*	ENST00000367478.4	37	c.3685	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	46	12.451238	0.99669	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	18.9746	0.92730	0.0:1.0:0.0:0.0	.	.	.	.	X	1229	.	ENSP00000356448:E1229X	E	-	1	0	TPR	184579146	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.488000	0.83962	0.561000	0.74099	GAA	TPR	-	NULL	ENSG00000047410		0.383	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	-	0.00	44	0	C	NM_003292		186312523	-1	tier1	-	no_errors	ENST00000367478	ensembl	human	known	74_37	nonsense	18.18	36	8	SNP	1.000	A
TPSD1	23430	genome.wustl.edu	37	16	1306980	1306980	+	Missense_Mutation	SNP	C	C	T	rs144003164		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1306980C>T	ENST00000211076.3	+	3	585	c.437C>T	c.(436-438)aCg>aTg	p.T146M	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.T139M	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	146	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CACATCCACACGGTCACGCTG	0.642																																																	0								C	MET/THR	1,4395	2.1+/-5.4	0,1,2197	48.0	46.0	47.0		437	0.0	0.0	16	dbSNP_134	47	1,8597	1.2+/-3.3	0,1,4298	no	missense	TPSD1	NM_012217.2	81	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	146/243	1306980	2,12992	2198	4299	6497	SO:0001583	missense	0			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.437C>T	16.37:g.1306980C>T	ENSP00000211076:p.Thr146Met		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.T146M	ENST00000211076.3	37	c.437	CCDS10432.1	16	.	.	.	.	.	.	.	.	.	.	c	9.412	1.080898	0.20309	2.27E-4	1.16E-4	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.81821	-1.54;-1.54	2.55	0.0132	0.14094	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.114660	0.06915	N	0.808344	T	0.80226	0.4584	L	0.41961	1.31	0.18873	N	0.999987	D;D	0.56968	0.978;0.977	P;P	0.54140	0.743;0.585	T	0.66972	-0.5788	10	0.72032	D	0.01	.	6.2442	0.20807	0.0:0.6839:0.0:0.3161	.	130;146	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	M	139;146	ENSP00000380668:T139M;ENSP00000211076:T146M	ENSP00000211076:T146M	T	+	2	0	TPSD1	1246981	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	0.640000	0.24705	-0.083000	0.12618	0.185000	0.17295	ACG	TPSD1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000095917		0.642	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPSD1	HGNC	protein_coding	OTTHUMT00000250320.2	-	0.00	65	0	C			1306980	+1	tier1	rs144003164	no_errors	ENST00000211076	ensembl	human	known	74_37	missense	22.78	61	18	SNP	0.514	T
TRAF3IP1	26146	genome.wustl.edu	37	2	239237829	239237830	+	Frame_Shift_Ins	INS	-	-	G	rs150462938		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:239237829_239237830insG	ENST00000373327.4	+	5	983_984	c.761_762insG	c.(760-765)gaggggfs	p.EG254fs	TRAF3IP1_ENST00000391993.3_Frame_Shift_Ins_p.EG254fs|TRAF3IP1_ENST00000391994.2_Frame_Shift_Ins_p.EG254fs	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	254	Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		agaaagagtgagggggggaaag	0.594																																																	0																																										SO:0001589	frameshift_variant	0			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.768dupG	2.37:g.239237836_239237836dupG	ENSP00000362424:p.Glu254fs		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Frame_Shift_Ins	INS	NULL	p.K257fs	ENST00000373327.4	37	c.761_762	CCDS33415.1	2																																																																																			TRAF3IP1	-	NULL	ENSG00000204104		0.594	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRAF3IP1	HGNC	protein_coding	OTTHUMT00000328312.1		0.00	41	0	-	NM_015650		239237830	+1	tier1		no_errors	ENST00000373327	ensembl	human	known	74_37	frame_shift_ins	27.91	31	12	INS	0.045:0.019	G
TRAK1	22906	genome.wustl.edu	37	3	42166922	42166922	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:42166922C>T	ENST00000327628.5	+	2	502	c.102C>T	c.(100-102)aaC>aaT	p.N34N	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	34					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATGTGTGCAACAGCACCGATC	0.493																																					GBM(44;195 884 22595 31865 41850)												0													51.0	50.0	50.0					3																	42166922		1931	4144	6075	SO:0001819	synonymous_variant	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.102C>T	3.37:g.42166922C>T			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.N34	ENST00000327628.5	37	c.102	CCDS43072.1	3																																																																																			TRAK1	-	NULL	ENSG00000182606		0.493	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	-	0.00	61	0	C	NM_014965		42166922	+1	tier1	-	no_errors	ENST00000327628	ensembl	human	putative	74_37	silent	6.90	54	4	SNP	1.000	T
TRAPPC10	7109	genome.wustl.edu	37	21	45502962	45502962	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:45502962G>A	ENST00000291574.4	+	14	2192	c.2017G>A	c.(2017-2019)Gcg>Acg	p.A673T		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	673					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGTTTGCCCGCGCTGGAGTT	0.498																																																	0													101.0	102.0	102.0					21																	45502962		2203	4300	6503	SO:0001583	missense	0			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2017G>A	21.37:g.45502962G>A	ENSP00000291574:p.Ala673Thr		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	NULL	p.A673T	ENST00000291574.4	37	c.2017	CCDS13704.1	21	.	.	.	.	.	.	.	.	.	.	G	1.751	-0.489235	0.04352	.	.	ENSG00000160218	ENST00000291574	T	0.23754	1.89	5.49	4.61	0.57282	.	0.218060	0.49305	N	0.000160	T	0.13841	0.0335	N	0.19112	0.55	0.09310	N	0.999995	B	0.23591	0.088	B	0.16722	0.016	T	0.25398	-1.0133	10	0.14656	T	0.56	.	8.3116	0.32075	0.2387:0.0:0.7613:0.0	.	673	P48553	TPC10_HUMAN	T	673	ENSP00000291574:A673T	ENSP00000291574:A673T	A	+	1	0	TRAPPC10	44327390	0.898000	0.30612	0.033000	0.17914	0.004000	0.04260	2.372000	0.44257	1.313000	0.45069	0.591000	0.81541	GCG	TRAPPC10	-	NULL	ENSG00000160218		0.498	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	-	0.00	34	0	G	NM_003274		45502962	+1	tier1	-	no_errors	ENST00000291574	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.067	A
TRAPPC11	60684	genome.wustl.edu	37	4	184605469	184605469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:184605469G>T	ENST00000334690.6	+	14	1580	c.1378G>T	c.(1378-1380)Gga>Tga	p.G460*	TRAPPC11_ENST00000512476.1_Nonsense_Mutation_p.G66*|TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.G460*	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	460					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GGTTCAGATGGGAGAGGAATA	0.333																																																	0													84.0	86.0	85.0					4																	184605469		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1378G>T	4.37:g.184605469G>T	ENSP00000335371:p.Gly460*		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.G460*	ENST00000334690.6	37	c.1378	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.001760	0.97994	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.2985	0.60311	0.0722:0.0:0.9278:0.0	.	.	.	.	X	460;460;460;66	.	ENSP00000335371:G460X	G	+	1	0	C4orf41	184842463	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.003000	0.88520	2.749000	0.94314	0.460000	0.39030	GGA	TRAPPC11	-	pfam_Foie-gras_1	ENSG00000168538		0.333	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	-	0.00	32	0	G	NM_021942		184605469	+1	tier1	-	no_errors	ENST00000334690	ensembl	human	known	74_37	nonsense	13.64	38	6	SNP	1.000	T
TRAPPC8	22878	genome.wustl.edu	37	18	29453418	29453418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:29453418delA	ENST00000283351.4	-	14	2372	c.2037delT	c.(2035-2037)tttfs	p.F679fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F625fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	679					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTCATGGCCAAAAAAAACCC	0.358																																																	0													50.0	49.0	49.0					18																	29453418		2203	4300	6503	SO:0001589	frameshift_variant	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2037delT	18.37:g.29453418delA	ENSP00000283351:p.Phe679fs		A0JP15|B3KME5|Q9H0L2	Frame_Shift_Del	DEL	NULL	p.F679fs	ENST00000283351.4	37	c.2037	CCDS11901.1	18																																																																																			TRAPPC8	-	NULL	ENSG00000153339		0.358	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1		0.00	54	0	A	NM_014939		29453418	-1	tier1		no_errors	ENST00000283351	ensembl	human	known	74_37	frame_shift_del	31.58	26	12	DEL	1.000	-
TRHDE	29953	genome.wustl.edu	37	12	72665950	72665950	+	5'Flank	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:72665950delG	ENST00000261180.4	+	0	0				TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme						cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCGCTGGAGTGGGGGGAGAAA	0.657																																																	0													50.0	64.0	60.0					12																	72665950		692	1591	2283	SO:0001631	upstream_gene_variant	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6			12.37:g.72665950delG	Exception_encountered		A5PL19|Q6UWJ4	RNA	DEL	-	NULL	ENST00000261180.4	37	NULL	CCDS9004.1	12																																																																																			TRHDE-AS1	-	-	ENSG00000236333		0.657	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE-AS1	HGNC	protein_coding	OTTHUMT00000405380.1		0.00	172	0	G	NM_013381		72665950	-1	tier1		no_errors	ENST00000435350	ensembl	human	known	74_37	rna	22.50	124	36	DEL	0.007	-
TRIM10	10107	genome.wustl.edu	37	6	30128469	30128469	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:30128469G>A	ENST00000449742.2	-	1	242	c.167C>T	c.(166-168)aCt>aTt	p.T56I	TRIM15_ENST00000376694.4_5'Flank|TRIM15_ENST00000376688.1_5'Flank|TRIM10_ENST00000376704.3_Missense_Mutation_p.T56I	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	56					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						GAGTGGGCAAGTAGGGGACTC	0.622																																																	0													153.0	161.0	158.0					6																	30128469		2203	4300	6503	SO:0001583	missense	0			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.167C>T	6.37:g.30128469G>A	ENSP00000397073:p.Thr56Ile		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T56I	ENST00000449742.2	37	c.167	CCDS34375.1	6	.	.	.	.	.	.	.	.	.	.	G	0.552	-0.848877	0.02651	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	D;D	0.84516	-1.86;-1.86	5.37	1.33	0.21861	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.982501	0.08312	N	0.965210	T	0.60779	0.2295	L	0.42529	1.33	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	T	0.48127	-0.9062	10	0.30854	T	0.27	.	4.4529	0.11630	0.0853:0.2856:0.4873:0.1418	.	56;56	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	I	56	ENSP00000397073:T56I;ENSP00000365894:T56I	ENSP00000365894:T56I	T	-	2	0	TRIM10	30236448	0.007000	0.16637	0.018000	0.16275	0.097000	0.18754	0.253000	0.18296	0.290000	0.22444	0.549000	0.68633	ACT	TRIM10	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000204613		0.622	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM10	HGNC	protein_coding	OTTHUMT00000076634.1	-	0.00	69	0	G			30128469	-1	tier1	-	no_errors	ENST00000449742	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.007	A
TRIM22	10346	genome.wustl.edu	37	11	5719674	5719674	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:5719674G>A	ENST00000379965.3	+	4	926	c.649G>A	c.(649-651)Gca>Aca	p.A217T	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	217					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GGATAACCTGGCAGCAGCTAC	0.532																																					GBM(104;491 2336 5222)												0													62.0	69.0	67.0					11																	5719674		2069	4218	6287	SO:0001583	missense	0			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.649G>A	11.37:g.5719674G>A	ENSP00000369299:p.Ala217Thr		Q05CQ0|Q15521	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A217T	ENST00000379965.3	37	c.649	CCDS41612.1	11	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368454	0.42003	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000454828;ENST00000414641;ENST00000455293	T;T;T	0.71934	3.57;3.57;-0.61	3.53	0.557	0.17260	.	.	.	.	.	T	0.69788	0.3150	L	0.48174	1.505	0.09310	N	1	P;P;D;D	0.62365	0.557;0.919;0.986;0.991	B;B;P;P	0.61201	0.167;0.214;0.885;0.804	T	0.56727	-0.7931	9	0.23302	T	0.38	.	3.2942	0.06960	0.2284:0.0:0.5689:0.2027	.	139;185;213;217	F8WAP8;C9JWC5;Q8IYM9-2;Q8IYM9	.;.;.;TRI22_HUMAN	T	217;28;185;217;139	ENSP00000369299:A217T;ENSP00000393250:A185T;ENSP00000396849:A217T	ENSP00000369299:A217T	A	+	1	0	TRIM22	5676250	0.000000	0.05858	0.031000	0.17742	0.663000	0.39108	0.331000	0.19733	0.141000	0.18875	0.460000	0.39030	GCA	TRIM22	-	NULL	ENSG00000132274		0.532	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM22	HGNC	protein_coding	OTTHUMT00000143387.2		0.00	47	0	G	NM_006074		5719674	+1			no_errors	ENST00000379965	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.030	A
TRIM4	89122	genome.wustl.edu	37	7	99489839	99489839	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:99489839delA	ENST00000355947.2	-	7	1579	c.1450delT	c.(1450-1452)tggfs	p.W484fs	TRIM4_ENST00000349062.2_Frame_Shift_Del_p.W458fs	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	484	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GGACTCAACCAAAAAAATGGC	0.502																																																	0													86.0	83.0	84.0					7																	99489839		2203	4300	6503	SO:0001589	frameshift_variant	0			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1450delT	7.37:g.99489839delA	ENSP00000348216:p.Trp484fs		A4D298|Q75MK1|Q96F06|Q9C036	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.W484fs	ENST00000355947.2	37	c.1450	CCDS5679.1	7																																																																																			TRIM4	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000146833		0.502	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	HGNC	protein_coding	OTTHUMT00000345050.1		0.00	20	0	A	NM_033017		99489839	-1	tier1		no_errors	ENST00000355947	ensembl	human	known	74_37	frame_shift_del	25.00	15	5	DEL	0.987	-
TRIM43	129868	genome.wustl.edu	37	2	96262110	96262110	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:96262110G>T	ENST00000272395.2	+	4	804	c.668G>T	c.(667-669)aGt>aTt	p.S223I		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	223						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						GATCAAAAGAGTAAACACTTG	0.398																																																	0													17.0	18.0	17.0					2																	96262110		2150	4237	6387	SO:0001583	missense	0			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.668G>T	2.37:g.96262110G>T	ENSP00000272395:p.Ser223Ile		Q53TJ7	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S223I	ENST00000272395.2	37	c.668	CCDS2015.1	2	.	.	.	.	.	.	.	.	.	.	.	1.583	-0.530982	0.04112	.	.	ENSG00000144015	ENST00000272395	T	0.03717	3.83	1.33	-2.67	0.06059	.	.	.	.	.	T	0.01835	0.0058	N	0.13098	0.295	0.09310	N	1	B	0.27264	0.173	B	0.26202	0.067	T	0.47355	-0.9124	9	0.20519	T	0.43	-2.4806	2.1073	0.03694	0.4538:0.0:0.2953:0.2509	.	223	Q96BQ3	TRI43_HUMAN	I	223	ENSP00000272395:S223I	ENSP00000272395:S223I	S	+	2	0	TRIM43	95625837	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-1.432000	0.02430	-0.954000	0.03640	0.375000	0.23000	AGT	TRIM43	-	NULL	ENSG00000144015		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	HGNC	protein_coding	OTTHUMT00000252784.1	-	0.00	130	0	G	NM_138800		96262110	+1	tier1	-	no_errors	ENST00000272395	ensembl	human	known	74_37	missense	6.78	110	8	SNP	0.001	T
TRIM46	80128	genome.wustl.edu	37	1	155156330	155156330	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:155156330G>A	ENST00000334634.4	+	10	1944	c.1944G>A	c.(1942-1944)tcG>tcA	p.S648S	RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000392451.2_3'UTR|MUC1_ENST00000462215.1_5'Flank|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Silent_p.S522S|TRIM46_ENST00000368382.1_Silent_p.S625S	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	648	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGAGGCGTCGCCACCCTTCG	0.647																																																	0													61.0	58.0	59.0					1																	155156330		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1944G>A	1.37:g.155156330G>A			A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.S648	ENST00000334634.4	37	c.1944	CCDS1097.1	1																																																																																			TRIM46	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000163462		0.647	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	-	0.00	57	0	G	NM_025058		155156330	+1	tier1	-	no_errors	ENST00000334634	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.370	A
TRIM7	81786	genome.wustl.edu	37	5	180630477	180630477	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:180630477C>T	ENST00000274773.7	-	2	680				TRIM7_ENST00000393319.3_5'Flank|TRIM7_ENST00000422067.2_5'UTR|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000511517.1_RNA|TRIM7_ENST00000361809.3_Intron|CTC-338M12.6_ENST00000419707.2_RNA|TRIM7_ENST00000393315.1_Intron|CTC-338M12.1_ENST00000503314.1_RNA|CTC-338M12.6_ENST00000514784.1_RNA|TRIM7_ENST00000334421.5_3'UTR	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7							cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCACACACACCGAGCCCTGGT	0.517																																					Esophageal Squamous(128;2258 2308 35507 48647)												0													72.0	75.0	74.0					5																	180630477		2203	4300	6503	SO:0001627	intron_variant	0			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.618+67G>A	5.37:g.180630477C>T			A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	RNA	SNP	-	NULL	ENST00000274773.7	37	NULL	CCDS4462.1	5																																																																																			TRIM7	-	-	ENSG00000146054		0.517	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3	-	0.00	38	0	C	NM_203296		180630477	-1	tier1	-	no_errors	ENST00000509199	ensembl	human	putative	74_37	rna	20.00	20	5	SNP	0.000	T
TRIM77	390231	genome.wustl.edu	37	11	89447424	89447424	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:89447424G>A	ENST00000398290.3	+	3	572	c.572G>A	c.(571-573)cGt>cAt	p.R191H		NM_001146162.1	NP_001139634.1	I1YAP6	TRI77_HUMAN	tripartite motif containing 77	191						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CAATACCTCCGTGAAGAAGAG	0.388																																																	0													94.0	76.0	82.0					11																	89447424		692	1591	2283	SO:0001583	missense	0				CCDS60929.1	11q14.3	2014-02-17	2013-01-14	2013-01-14	ENSG00000214414	ENSG00000214414		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	34228	protein-coding gene	gene with protein product			"""tripartite motif-containing 77"", ""tripartite motif containing 77, pseudogene"""	TRIM77P			Standard	NM_001146162		Approved		uc010rtw.2	I1YAP6	OTTHUMG00000167624	ENST00000398290.3:c.572G>A	11.37:g.89447424G>A	ENSP00000474003:p.Arg191His			Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R191H	ENST00000398290.3	37	c.572		11																																																																																			TRIM77	-	NULL	ENSG00000214414		0.388	TRIM77-201	KNOWN	basic|appris_principal	protein_coding	TRIM77	HGNC	protein_coding		-	0.00	41	0	G	NM_001146162		89447424	+1	tier1	-	no_errors	ENST00000398290	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.006	A
TRIM9	114088	genome.wustl.edu	37	14	51475876	51475876	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:51475876T>G	ENST00000298355.3	-	5	2349	c.1228A>C	c.(1228-1230)Acc>Ccc	p.T410P	TRIM9_ENST00000360392.4_Missense_Mutation_p.T410P|TRIM9_ENST00000338969.5_Missense_Mutation_p.T410P	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	410	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AAGTCCGTGGTCATCCTTGGA	0.507																																																	0													208.0	147.0	168.0					14																	51475876		2203	4300	6503	SO:0001583	missense	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1228A>C	14.37:g.51475876T>G	ENSP00000298355:p.Thr410Pro		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.T410P	ENST00000298355.3	37	c.1228	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816516	0.50527	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.70869	-0.36;-0.52;0.55	5.94	5.94	0.96194	COS domain (1);	0.087536	0.85682	D	0.000000	T	0.50309	0.1608	N	0.03608	-0.345	0.44492	D	0.997439	B;B;B	0.14438	0.001;0.01;0.001	B;B;B	0.15052	0.005;0.012;0.002	T	0.48547	-0.9026	10	0.41790	T	0.15	.	15.5887	0.76506	0.0:0.0:0.0:1.0	.	410;410;410	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	P	410	ENSP00000298355:T410P;ENSP00000342970:T410P;ENSP00000353561:T410P	ENSP00000298355:T410P	T	-	1	0	TRIM9	50545626	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.997000	0.88414	2.275000	0.75901	0.528000	0.53228	ACC	TRIM9	-	NULL	ENSG00000100505		0.507	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1		0.00	46	0	T	NM_015163		51475876	-1			no_errors	ENST00000338969	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	G
TRIO	7204	genome.wustl.edu	37	5	14368970	14368970	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:14368970G>A	ENST00000344204.4	+	17	3052	c.3028G>A	c.(3028-3030)Gtc>Atc	p.V1010I	TRIO_ENST00000537187.1_Missense_Mutation_p.V1010I|TRIO_ENST00000509967.2_Missense_Mutation_p.V961I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1010					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTCAAGCTCGTCAACGCCTC	0.512																																																	0													154.0	135.0	142.0					5																	14368970		2203	4300	6503	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3028G>A	5.37:g.14368970G>A	ENSP00000339299:p.Val1010Ile		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V1010I	ENST00000344204.4	37	c.3028	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203497	0.79127	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.67698	-0.28;-0.28;0.42	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	L	0.28400	0.85	0.80722	D	1	D;D;D	0.76494	0.973;0.985;0.999	P;P;D	0.79784	0.606;0.743;0.993	T	0.70407	-0.4880	10	0.32370	T	0.25	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	961;1010;1010	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	I	1010;1010;961;697	ENSP00000339299:V1010I;ENSP00000446348:V1010I;ENSP00000445592:V961I	ENSP00000339299:V1010I	V	+	1	0	TRIO	14421970	1.000000	0.71417	0.986000	0.45419	0.951000	0.60555	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GTC	TRIO	-	smart_Spectrin/alpha-actinin	ENSG00000038382		0.512	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	0.00	52	0	G	NM_007118		14368970	+1	tier1	-	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	14.81	46	8	SNP	1.000	A
TRIOBP	11078	genome.wustl.edu	37	22	38122337	38122337	+	Silent	SNP	C	C	T	rs377749969		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:38122337C>T	ENST00000406386.3	+	7	4029	c.3774C>T	c.(3772-3774)ccC>ccT	p.P1258P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1258					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGCGCCTCCCGGGGAGACCA	0.721																																																	0								T		3,3803		0,3,1900	17.0	22.0	20.0		3774	-8.8	0.1	22		20	0,8150		0,0,4075	no	coding-synonymous	TRIOBP	NM_001039141.2		0,3,5975	TT,TC,CC		0.0,0.0788,0.0251		1258/2366	38122337	3,11953	1903	4075	5978	SO:0001819	synonymous_variant	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3774C>T	22.37:g.38122337C>T			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P1258	ENST00000406386.3	37	c.3774	CCDS43015.1	22																																																																																			TRIOBP	-	NULL	ENSG00000100106		0.721	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0.00	86	0	C			38122337	+1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	silent	16.67	65	13	SNP	0.068	T
TRIOBP	11078	genome.wustl.edu	37	22	38129304	38129304	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:38129304G>T	ENST00000406386.3	+	8	4202		c.e8-1			NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein						actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TTTGCTCATAGGAAGTCCGAG	0.647																																																	0													8.0	13.0	11.0					22																	38129304		1844	3871	5715	SO:0001630	splice_region_variant	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3948-1G>T	22.37:g.38129304G>T			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Splice_Site	SNP	-	e6-1	ENST00000406386.3	37	c.3948-1	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232876	0.79688	.	.	ENSG00000100106	ENST00000406386	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9291	0.86184	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIOBP	36459250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.662000	0.68032	2.779000	0.95612	0.655000	0.94253	.	TRIOBP	-	-	ENSG00000100106		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0.00	83	0	G		Intron	38129304	+1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	splice_site	17.50	66	14	SNP	1.000	T
TRMT44	152992	genome.wustl.edu	37	4	8480090	8480090	+	IGR	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:8480090T>C	ENST00000389737.4	+	0	2799				TRMT44_ENST00000511366.2_3'UTR	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)						tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AGAGCTATGCTAAGTGGGGCC	0.607																																																	0																																										SO:0001628	intergenic_variant	0			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935		4.37:g.8480090T>C			Q8NA95	RNA	SNP	-	NULL	ENST00000389737.4	37	NULL	CCDS3402.2	4																																																																																			TRMT44	-	-	ENSG00000155275		0.607	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRMT44	HGNC	protein_coding	OTTHUMT00000359197.2	-	0.00	20	0	T	NM_152544		8480090	+1	tier1	-	no_errors	ENST00000511366	ensembl	human	known	74_37	rna	24.14	22	7	SNP	0.002	C
TRPC3	7222	genome.wustl.edu	37	4	122854046	122854046	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:122854046C>T	ENST00000379645.3	-	2	440	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	TRPC3_ENST00000513531.1_Missense_Mutation_p.G50S|TRPC3_ENST00000264811.5_Missense_Mutation_p.G50S	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	38					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGATGTTGCCGTACTCGGCG	0.667																																																	0													55.0	53.0	54.0					4																	122854046		2203	4300	6503	SO:0001583	missense	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.367G>A	4.37:g.122854046C>T	ENSP00000368966:p.Gly123Ser		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.G123S	ENST00000379645.3	37	c.367	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.833684	0.97003	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.72835	-0.69;-0.69;-0.69;0.87	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88754	0.3252	10	0.87932	D	0	-37.2766	20.3932	0.98965	0.0:1.0:0.0:0.0	.	50;123	E9PCJ9;Q5G1L5	.;.	S	50;123;50;50	ENSP00000264811:G50S;ENSP00000368966:G123S;ENSP00000426899:G50S;ENSP00000422214:G50S	ENSP00000264811:G50S	G	-	1	0	TRPC3	123073496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.824000	0.97209	0.655000	0.94253	GGC	TRPC3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000138741		0.667	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	-	0.00	59	0	C	NM_003305		122854046	-1	tier1	-	no_errors	ENST00000379645	ensembl	human	known	74_37	missense	20.75	42	11	SNP	1.000	T
TRPC3	7222	genome.wustl.edu	37	4	122854153	122854153	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:122854153C>T	ENST00000379645.3	-	2	333	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	TRPC3_ENST00000513531.1_Missense_Mutation_p.R14Q|TRPC3_ENST00000264811.5_Missense_Mutation_p.R14Q	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	2					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCCTTCTCCCGCATCACTGT	0.592																																																	0													26.0	28.0	27.0					4																	122854153		2202	4292	6494	SO:0001583	missense	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.260G>A	4.37:g.122854153C>T	ENSP00000368966:p.Arg87Gln		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.R87Q	ENST00000379645.3	37	c.260	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.602102	0.96614	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;D	0.86956	-0.9;-1.1;-0.96;-2.19	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	N	0.08118	0	0.53005	D	0.999969	D;D	0.64830	0.994;0.986	P;P	0.54346	0.749;0.664	D	0.88055	0.2790	10	0.87932	D	0	-29.484	20.051	0.97627	0.0:1.0:0.0:0.0	.	14;87	E9PCJ9;Q5G1L5	.;.	Q	14;87;14;14	ENSP00000264811:R14Q;ENSP00000368966:R87Q;ENSP00000426899:R14Q;ENSP00000422214:R14Q	ENSP00000264811:R14Q	R	-	2	0	TRPC3	123073603	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.769000	0.68865	2.740000	0.93945	0.650000	0.86243	CGG	TRPC3	-	NULL	ENSG00000138741		0.592	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1		0.00	24	0	C	NM_003305		122854153	-1			no_errors	ENST00000379645	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
TRPS1	7227	genome.wustl.edu	37	8	116617171	116617171	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:116617171T>C	ENST00000220888.5	-	3	1145	c.986A>G	c.(985-987)aAc>aGc	p.N329S	TRPS1_ENST00000519076.1_Missense_Mutation_p.N283S|TRPS1_ENST00000395715.3_Missense_Mutation_p.N342S|TRPS1_ENST00000520276.1_Missense_Mutation_p.N333S|TRPS1_ENST00000519674.1_Missense_Mutation_p.N329S			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	329					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATACTTGGTGTTCCCTTGGCA	0.408									Langer-Giedion syndrome																																								0													93.0	90.0	91.0					8																	116617171		1901	4118	6019	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.986A>G	8.37:g.116617171T>C	ENSP00000220888:p.Asn329Ser		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.N342S	ENST00000220888.5	37	c.1025		8	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913344	0.72983	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	N	0.24115	0.695	0.58432	D	0.999997	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.80764	0.994;0.985;0.994	T	0.02991	-1.1085	10	0.87932	D	0	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	333;329;342	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	S	342;329;283;333;329	ENSP00000379065:N342S;ENSP00000220888:N329S;ENSP00000428910:N283S;ENSP00000428680:N333S;ENSP00000429174:N329S	ENSP00000220888:N329S	N	-	2	0	TRPS1	116686346	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.997000	0.88414	2.291000	0.77112	0.533000	0.62120	AAC	TRPS1	-	NULL	ENSG00000104447		0.408	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0.00	42	0	T	NM_014112		116617171	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	12.70	55	8	SNP	1.000	C
TRPS1	7227	genome.wustl.edu	37	8	116631988	116631988	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:116631988A>C	ENST00000220888.5	-	2	457	c.298T>G	c.(298-300)Ttt>Gtt	p.F100V	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000395715.3_Missense_Mutation_p.F113V|TRPS1_ENST00000520276.1_Missense_Mutation_p.F104V|TRPS1_ENST00000519674.1_Missense_Mutation_p.F100V			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	100					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCATGCGGAAAGGAGGGAAAG	0.498									Langer-Giedion syndrome																																								0													83.0	79.0	80.0					8																	116631988		1918	4135	6053	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.298T>G	8.37:g.116631988A>C	ENSP00000220888:p.Phe100Val		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.F113V	ENST00000220888.5	37	c.337		8	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305260	0.40795	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674;ENST00000395713	D;D;D;T	0.98926	-5.24;-5.21;-5.21;0.58	5.82	4.65	0.58169	.	0.556675	0.18234	N	0.147480	D	0.95837	0.8645	N	0.24115	0.695	0.36426	D	0.864636	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.006	D	0.94285	0.7523	10	0.87932	D	0	4.0057	11.1247	0.48310	0.9253:0.0:0.0747:0.0	.	104;100;113	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	V	113;100;104;100;113	ENSP00000379065:F113V;ENSP00000220888:F100V;ENSP00000428680:F104V;ENSP00000429174:F100V	ENSP00000220888:F100V	F	-	1	0	TRPS1	116701163	1.000000	0.71417	0.958000	0.39756	0.976000	0.68499	4.152000	0.58111	1.012000	0.39366	0.528000	0.53228	TTT	TRPS1	-	NULL	ENSG00000104447		0.498	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0.00	37	0	A	NM_014112		116631988	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.994	C
TRPS1	7227	genome.wustl.edu	37	8	116632237	116632237	+	Missense_Mutation	SNP	C	C	T	rs371442998		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:116632237C>T	ENST00000220888.5	-	2	208	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TRPS1_ENST00000519076.1_Missense_Mutation_p.E17K|TRPS1_ENST00000395715.3_Missense_Mutation_p.E30K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E21K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E17K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	17					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E30Q(1)|p.E17Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATCTGGCCCTCGCCTTCACTT	0.438									Langer-Giedion syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		17015	0.0		0.0	False		,,,				2504	0.001																2	Substitution - Missense(2)	lung(2)						C	LYS/GLU	0,3680		0,0,1840	84.0	77.0	79.0		88	5.8	1.0	8		79	1,8191		0,1,4095	no	missense	TRPS1	NM_014112.2	56	0,1,5935	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	30/1295	116632237	1,11871	1840	4096	5936	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.49G>A	8.37:g.116632237C>T	ENSP00000220888:p.Glu17Lys		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.E30K	ENST00000220888.5	37	c.88		8	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680764	0.88542	0.0	1.22E-4	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.99292	-5.36;-5.33;-5.7;-5.33;0.46	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	D	0.98887	0.9623	L	0.27053	0.805	0.58432	D	0.999998	D;D;D	0.65815	0.995;0.992;0.995	D;D;D	0.70716	0.97;0.935;0.97	D	0.99937	1.1373	10	0.87932	D	0	-10.2354	20.0966	0.97849	0.0:1.0:0.0:0.0	.	21;17;30	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	30;17;17;21;17;30;30;30	ENSP00000379065:E30K;ENSP00000220888:E17K;ENSP00000428910:E17K;ENSP00000428680:E21K;ENSP00000429174:E17K	ENSP00000220888:E17K	E	-	1	0	TRPS1	116701412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.940000	0.75917	2.751000	0.94390	0.650000	0.86243	GAG	TRPS1	-	NULL	ENSG00000104447		0.438	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3		0.00	52	0	C	NM_014112		116632237	-1			no_errors	ENST00000395715	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
TRPV1	7442	genome.wustl.edu	37	17	3480936	3480936	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:3480936delG	ENST00000571088.1	-	11	1882	c.1669delC	c.(1669-1671)cgcfs	p.R557fs	TRPV1_ENST00000399759.3_Frame_Shift_Del_p.R557fs|TRPV1_ENST00000174621.6_Frame_Shift_Del_p.R555fs|TRPV1_ENST00000310522.5_Frame_Shift_Del_p.R497fs|TRPV1_ENST00000576351.1_Frame_Shift_Del_p.R547fs|TRPV1_ENST00000425167.2_Frame_Shift_Del_p.R568fs|RP11-235E17.3_ENST00000573568.1_RNA|TRPV1_ENST00000399756.4_Frame_Shift_Del_p.R557fs|SHPK_ENST00000572705.1_Frame_Shift_Del_p.R557fs	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	557					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TGGAAACCGCGGGTGTAGTAG	0.587																																					Melanoma(38;962 1762 15789)												0													41.0	46.0	44.0					17																	3480936		2031	4165	6196	SO:0001589	frameshift_variant	0			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1669delC	17.37:g.3480936delG	ENSP00000461007:p.Arg557fs		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.R557fs	ENST00000571088.1	37	c.1669	CCDS45576.1	17																																																																																			TRPV1	-	tigrfam_TRP_channel	ENSG00000196689		0.587	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV1	HGNC	protein_coding	OTTHUMT00000438254.1		0.00	42	0	G	NM_018727		3480936	-1	tier1		no_errors	ENST00000399756	ensembl	human	known	74_37	frame_shift_del	30.30	23	10	DEL	1.000	-
TRRAP	8295	genome.wustl.edu	37	7	98490094	98490094	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:98490094C>T	ENST00000359863.4	+	5	518	c.309C>T	c.(307-309)aaC>aaT	p.N103N	TRRAP_ENST00000446306.3_Silent_p.N103N|TRRAP_ENST00000355540.3_Silent_p.N103N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	103					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TACCAACCAACGAACATCTTC	0.343																																																	0													108.0	112.0	110.0					7																	98490094		2203	4300	6503	SO:0001819	synonymous_variant	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.309C>T	7.37:g.98490094C>T			A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.N103	ENST00000359863.4	37	c.309	CCDS59066.1	7																																																																																			TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.343	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0.00	71	0	C	NM_003496		98490094	+1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	silent	24.14	44	14	SNP	0.876	T
TRRAP	8295	genome.wustl.edu	37	7	98508848	98508848	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:98508848C>T	ENST00000359863.4	+	17	2170	c.1961C>T	c.(1960-1962)aCg>aTg	p.T654M	TRRAP_ENST00000446306.3_Missense_Mutation_p.T653M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T654M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	654					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCAAACTACGGTCCCTTAT	0.368																																																	0													108.0	103.0	105.0					7																	98508848		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1961C>T	7.37:g.98508848C>T	ENSP00000352925:p.Thr654Met		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T654M	ENST00000359863.4	37	c.1961	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.112852|5.112852	0.94339|0.94339	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.45668	.|0.89;0.89	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67505|0.67505	0.2900|0.2900	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;P;D	.|0.71870	.|0.975;0.828;0.926	T|T	0.65467|0.65467	-0.6161|-0.6161	5|10	.|0.46703	.|T	.|0.11	.|.	20.422|20.422	0.99049|0.99049	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|654;368;654	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	W|M	369|654;654;652	.|ENSP00000352925:T654M;ENSP00000347733:T654M	.|ENSP00000347733:T654M	R|T	+|+	1|2	2|0	TRRAP|TRRAP	98346784|98346784	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.982000|0.982000	0.71751|0.71751	7.818000|7.818000	0.86416|0.86416	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CGG|ACG	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.368	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0.00	60	0	C	NM_003496		98508848	+1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	22.09	67	19	SNP	1.000	T
TSC1	7248	genome.wustl.edu	37	9	135779172	135779172	+	Nonsense_Mutation	SNP	G	G	A	rs118203630|rs118203631		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:135779172G>A	ENST00000298552.3	-	17	2295	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	TSC1_ENST00000440111.2_Nonsense_Mutation_p.R692*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.R641*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	692					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AACTGGTCTCGGAGGGTGCGG	0.532			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)	GRCh37	CM971520|CX024084	TSC1	M|X	rs118203630						82.0	81.0	81.0					9																	135779172		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2074C>T	9.37:g.135779172G>A	ENSP00000298552:p.Arg692*		B7Z897|Q5VVN5	Nonsense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.R692*	ENST00000298552.3	37	c.2074	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	G	41	8.960674	0.99018	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	.	.	.	5.35	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4475	10.0003	0.41924	0.0749:0.0:0.7896:0.1355	.	.	.	.	X	692;692;641	.	ENSP00000298552:R692X	R	-	1	2	TSC1	134768993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.034000	0.57289	2.496000	0.84212	0.557000	0.71058	CGA	TSC1	-	pfam_Hamartin	ENSG00000165699		0.532	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	-	0.00	31	0	G			135779172	-1	tier1	rs118203631	no_errors	ENST00000298552	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	1.000	A
TSGA10	80705	genome.wustl.edu	37	2	99725853	99725854	+	Splice_Site	INS	-	-	G	rs553625521		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:99725853_99725854insG	ENST00000393483.3	-	6	893_894	c.49_50insC	c.(49-51)cgg>cCgg	p.R17fs	TSGA10_ENST00000542655.1_Splice_Site_p.R17fs|TSGA10_ENST00000539964.1_Splice_Site_p.R17fs|TSGA10_ENST00000355053.4_Splice_Site_p.R17fs|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Splice_Site_p.R17fs	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	17					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AAAACCTACCCGGGCAGTTGGT	0.361																																																	0																																										SO:0001630	splice_region_variant	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.51+1->C	2.37:g.99725856_99725856dupG			B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Frame_Shift_Ins	INS	NULL	p.R17fs	ENST00000393483.3	37	c.50_49	CCDS2037.1	2																																																																																			TSGA10	-	NULL	ENSG00000135951		0.361	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1		0.00	78	0	-	NM_182911	Frame_Shift_Ins	99725854	-1	tier1		no_errors	ENST00000355053	ensembl	human	known	74_37	frame_shift_ins	26.39	53	19	INS	0.992:0.927	G
TSPAN32	10077	genome.wustl.edu	37	11	2338585	2338585	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:2338585G>A	ENST00000182290.4	+	9	868	c.731G>A	c.(730-732)cGc>cAc	p.R244H	TSPAN32_ENST00000451520.2_Missense_Mutation_p.R233H|TSPAN32_ENST00000381121.3_Intron	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	244					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GCATGTGGCCGCCAGCCCCAG	0.577																																																	0													51.0	44.0	47.0					11																	2338585		2199	4298	6497	SO:0001583	missense	0			AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.731G>A	11.37:g.2338585G>A	ENSP00000182290:p.Arg244His		Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	p.R244H	ENST00000182290.4	37	c.731	CCDS7733.1	11	.	.	.	.	.	.	.	.	.	.	.	2.651	-0.281893	0.05642	.	.	ENSG00000064201	ENST00000182290;ENST00000451520;ENST00000444307;ENST00000381117	T;T	0.47177	0.86;0.85	2.33	-3.63	0.04529	.	4.023330	0.00559	N	0.000262	T	0.23532	0.0569	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.08638	-1.0712	10	0.15066	T	0.55	0.0987	4.3359	0.11087	0.4314:0.0:0.4161:0.1525	.	233;189;244	D3YTD1;G3XAG6;Q96QS1	.;.;TSN32_HUMAN	H	244;233;180;189	ENSP00000182290:R244H;ENSP00000405205:R233H	ENSP00000182290:R244H	R	+	2	0	TSPAN32	2295161	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	-0.073000	0.11468	-1.018000	0.03363	-1.800000	0.00619	CGC	TSPAN32	-	NULL	ENSG00000064201		0.577	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSPAN32	HGNC	protein_coding	OTTHUMT00000026912.2	-	0.00	32	0	G	NM_139024		2338585	+1	tier1	-	no_errors	ENST00000182290	ensembl	human	known	74_37	missense	11.63	38	5	SNP	0.000	A
TTBK1	84630	genome.wustl.edu	37	6	43221342	43221342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:43221342C>T	ENST00000259750.4	+	5	450	c.367C>T	c.(367-369)Cga>Tga	p.R123*	TTBK1_ENST00000304139.5_Nonsense_Mutation_p.R72*	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TAGCCAGCCGCGAGGCACCTT	0.627																																																	0													45.0	38.0	41.0					6																	43221342		2203	4300	6503	SO:0001587	stop_gained	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.367C>T	6.37:g.43221342C>T	ENSP00000259750:p.Arg123*		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R123*	ENST00000259750.4	37	c.367	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.739272	0.96873	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	.	.	.	4.93	0.732	0.18283	.	0.124768	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.543	0.61686	0.5479:0.4521:0.0:0.0	.	.	.	.	X	72;123;72	.	ENSP00000259750:R123X	R	+	1	2	TTBK1	43329320	0.004000	0.15560	0.104000	0.21259	0.968000	0.65278	0.101000	0.15251	-0.189000	0.10482	0.563000	0.77884	CGA	TTBK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000146216		0.627	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	-	0.00	49	0	C			43221342	+1	tier1	-	no_errors	ENST00000259750	ensembl	human	known	74_37	nonsense	15.91	37	7	SNP	0.793	T
TTBK1	84630	genome.wustl.edu	37	6	43250473	43250473	+	Silent	SNP	C	C	T	rs373133592		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:43250473C>T	ENST00000259750.4	+	14	2078	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	665					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGGTGTTCTCCGTGGCGCCCC	0.597																																																	0													77.0	85.0	83.0					6																	43250473		2203	4300	6503	SO:0001819	synonymous_variant	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1995C>T	6.37:g.43250473C>T			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S665	ENST00000259750.4	37	c.1995	CCDS34455.1	6																																																																																			TTBK1	-	NULL	ENSG00000146216		0.597	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	-	0.00	38	0	C			43250473	+1	tier1	-	no_errors	ENST00000259750	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.988	T
TTBK1	84630	genome.wustl.edu	37	6	43251751	43251751	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:43251751G>A	ENST00000259750.4	+	14	3356	c.3273G>A	c.(3271-3273)cgG>cgA	p.R1091R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1091					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACCTGGCGCGGCTGGTGATGG	0.692																																																	0													6.0	8.0	7.0					6																	43251751		2124	4158	6282	SO:0001819	synonymous_variant	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3273G>A	6.37:g.43251751G>A			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R1091	ENST00000259750.4	37	c.3273	CCDS34455.1	6																																																																																			TTBK1	-	NULL	ENSG00000146216		0.692	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3		0.00	20	0	G			43251751	+1			no_errors	ENST00000259750	ensembl	human	known	74_37	silent	40.00	9	6	SNP	0.994	A
TTC21A	199223	genome.wustl.edu	37	3	39179044	39179044	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:39179044C>T	ENST00000431162.2	+	26	3673	c.3539C>T	c.(3538-3540)gCg>gTg	p.A1180V	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Missense_Mutation_p.A1181V|TTC21A_ENST00000440121.1_Missense_Mutation_p.A1132V			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1180										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATCCCCAAGGCGCGTATGCAG	0.607																																																	0													64.0	74.0	71.0					3																	39179044		2107	4230	6337	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3539C>T	3.37:g.39179044C>T	ENSP00000398211:p.Ala1180Val		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A1181V	ENST00000431162.2	37	c.3542	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754333	0.69648	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	D;D;D	0.93712	-3.27;-3.27;-3.27	4.1	4.1	0.47936	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000013	D	0.97087	0.9048	M	0.90483	3.12	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.996	D	0.98093	1.0410	10	0.87932	D	0	-1.9529	15.0874	0.72165	0.0:1.0:0.0:0.0	.	1132;1181;1180	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	V	1181;1163;1180;1132	ENSP00000301819:A1181V;ENSP00000398211:A1180V;ENSP00000410882:A1132V	ENSP00000301819:A1181V	A	+	2	0	TTC21A	39154048	1.000000	0.71417	0.988000	0.46212	0.192000	0.23643	7.342000	0.79310	1.809000	0.52856	0.313000	0.20887	GCG	TTC21A	-	NULL	ENSG00000168026		0.607	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1		0.00	68	0	C	NM_145755		39179044	+1			no_errors	ENST00000301819	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	T
TTC26	79989	genome.wustl.edu	37	7	138853316	138853317	+	Intron	DEL	AA	AA	-	rs112942380		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:138853316_138853317delAA	ENST00000464848.1	+	11	1085				TTC26_ENST00000495038.1_Intron|TTC26_ENST00000343187.4_Intron|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000478836.2_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26						cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ATTTAGAGACAAAAAAAAAAAA	0.317																																																	0																																										SO:0001627	intron_variant	0			AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1005+173AA>-	7.37:g.138853326_138853327delAA			A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	RNA	DEL	-	NULL	ENST00000464848.1	37	NULL	CCDS5852.1	7																																																																																			TTC26	-	-	ENSG00000105948		0.317	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC26	HGNC	protein_coding	OTTHUMT00000348919.2		0.00	25	0	AA	NM_024926		138853317	+1	tier1		no_errors	ENST00000481482	ensembl	human	known	74_37	rna	26.67	11	4	DEL	0.000:0.010	-
TTC5	91875	genome.wustl.edu	37	14	20763965	20763966	+	Frame_Shift_Del	DEL	GA	GA	-	rs139937413	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:20763965_20763966delGA	ENST00000258821.3	-	7	800_801	c.744_745delTC	c.(742-747)tctcggfs	p.R249fs		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	249					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		GCTGCAGCCCGAGAGAAGCCCT	0.505																																																	0																																										SO:0001589	frameshift_variant	0			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.744_745delTC	14.37:g.20763969_20763970delGA	ENSP00000258821:p.Arg249fs		A8MQ18|Q96HF9	Frame_Shift_Del	DEL	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R249fs	ENST00000258821.3	37	c.745_744	CCDS9546.1	14																																																																																			TTC5	-	smart_TPR_repeat,pfscan_TPR_repeat	ENSG00000136319		0.505	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC5	HGNC	protein_coding	OTTHUMT00000073529.4		0.00	56	0	GA	NM_138376		20763966	-1	tier1		no_errors	ENST00000258821	ensembl	human	known	74_37	frame_shift_del	32.20	40	19	DEL	1.000:1.000	-
TTC5	91875	genome.wustl.edu	37	14	20770016	20770016	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:20770016G>T	ENST00000258821.3	-	2	216	c.160C>A	c.(160-162)Cta>Ata	p.L54I		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	54					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ATCTGCTGTAGGGTTTTCTCC	0.478																																																	0													251.0	193.0	213.0					14																	20770016		2203	4300	6503	SO:0001583	missense	0			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.160C>A	14.37:g.20770016G>T	ENSP00000258821:p.Leu54Ile		A8MQ18|Q96HF9	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L54I	ENST00000258821.3	37	c.160	CCDS9546.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.670|8.670	0.902592|0.902592	0.17760|0.17760	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000258821;ENST00000553828|ENST00000423949	T|.	0.30981|.	1.51|.	4.44|4.44	2.55|2.55	0.30701|0.30701	Tetratricopeptide-like helical (1);|.	0.160356|.	0.41712|.	D|.	0.000823|.	T|T	0.43853|0.43853	0.1266|0.1266	L|L	0.41573|0.41573	1.285|1.285	0.39274|0.39274	D|D	0.964436|0.964436	B|.	0.23377|.	0.084|.	B|.	0.18871|.	0.023|.	T|T	0.29549|0.29549	-1.0008|-1.0008	10|5	0.27082|.	T|.	0.32|.	.|.	3.7384|3.7384	0.08520|0.08520	0.0924:0.1658:0.5709:0.1709|0.0924:0.1658:0.5709:0.1709	.|.	54|.	Q8N0Z6|.	TTC5_HUMAN|.	I|H	54;5|53	ENSP00000258821:L54I|.	ENSP00000258821:L54I|.	L|P	-|-	1|2	2|0	TTC5|TTC5	19839856|19839856	0.963000|0.963000	0.33076|0.33076	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	1.458000|1.458000	0.35223|0.35223	0.483000|0.483000	0.27608|0.27608	0.650000|0.650000	0.86243|0.86243	CTA|CCT	TTC5	-	NULL	ENSG00000136319		0.478	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC5	HGNC	protein_coding	OTTHUMT00000073529.4	-	0.00	87	0	G	NM_138376		20770016	-1	tier1	-	no_errors	ENST00000258821	ensembl	human	known	74_37	missense	12.35	71	10	SNP	1.000	T
TTC7B	145567	genome.wustl.edu	37	14	91007520	91007520	+	3'UTR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:91007520delA	ENST00000328459.6	-	0	2845				TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_3'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B											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)				TTGGGCTGGCAAAAAAAACAA	0.438																																																	0																																										SO:0001624	3_prime_UTR_variant	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.*192T>-	14.37:g.91007520delA			Q86U24|Q86VT3	RNA	DEL	-	NULL	ENST00000328459.6	37	NULL	CCDS32140.1	14																																																																																			TTC7B	-	-	ENSG00000165914		0.438	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2		0.00	32	0	A			91007520	-1	tier1		no_errors	ENST00000554654	ensembl	human	known	74_37	rna	18.75	26	6	DEL	0.000	-
TTI1	9675	genome.wustl.edu	37	20	36627613	36627613	+	Frame_Shift_Del	DEL	G	G	-	rs149568606		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:36627613delG	ENST00000373448.2	-	6	3008	c.2770delC	c.(2770-2772)ctgfs	p.L924fs	TTI1_ENST00000449821.1_Frame_Shift_Del_p.L924fs|TTI1_ENST00000373447.3_Frame_Shift_Del_p.L924fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	924					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L924fs*37(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGCACTGCCAGGGGGGCGTCC	0.577																																																	1	Deletion - Frameshift(1)	large_intestine(1)											76.0	73.0	74.0					20																	36627613		2203	4300	6503	SO:0001589	frameshift_variant	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2770delC	20.37:g.36627613delG	ENSP00000362547:p.Leu924fs		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,pirsf_UCP005250	p.L924fs	ENST00000373448.2	37	c.2770	CCDS13300.1	20																																																																																			TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.577	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2		0.00	52	0	G	NM_014657		36627613	-1	tier1		no_errors	ENST00000373447	ensembl	human	known	74_37	frame_shift_del	15.09	45	8	DEL	1.000	-
TTL	150465	genome.wustl.edu	37	2	113287064	113287064	+	3'UTR	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:113287064delA	ENST00000233336.6	+	0	2017				TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase						cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		CATGAGAGAGAAAAAAACATG	0.333			T	ETV6	ALL																																			Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.*692A>-	2.37:g.113287064delA			Q585T3|Q7Z302|Q8N426	RNA	DEL	-	NULL	ENST00000233336.6	37	NULL	CCDS2096.1	2																																																																																			TTL	-	-	ENSG00000114999		0.333	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTL	HGNC	protein_coding	OTTHUMT00000254085.2		0.00	26	0	A	NM_153712		113287064	+1	tier1		no_errors	ENST00000460450	ensembl	human	known	74_37	rna	31.03	20	9	DEL	0.083	-
TTLL10	254173	genome.wustl.edu	37	1	1117146	1117146	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1117146G>T	ENST00000379290.1	+	9	954	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	TTLL10_ENST00000379288.3_Missense_Mutation_p.A188S|TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Missense_Mutation_p.A261S			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	261	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCAGCGCCCGCCCTGGAGGA	0.652																																																	0													35.0	30.0	32.0					1																	1117146		2193	4286	6479	SO:0001583	missense	0			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.781G>T	1.37:g.1117146G>T	ENSP00000368592:p.Ala261Ser		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.A261S	ENST00000379290.1	37	c.781	CCDS44036.1	1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.425834	0.00186	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.15256	3.29;3.29;2.44	1.45	-2.91	0.05631	.	1.010820	0.07967	N	0.983359	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B;B	0.23185	0.081;0.042	B;B	0.20955	0.03;0.032	T	0.31194	-0.9952	10	0.08179	T	0.78	.	6.1804	0.20468	0.2212:0.0:0.6209:0.1579	.	188;261	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	S	261;261;188	ENSP00000368592:A261S;ENSP00000368591:A261S;ENSP00000368590:A188S	ENSP00000368590:A188S	A	+	1	0	TTLL10	1107009	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.190000	0.03058	-3.170000	0.00225	-3.413000	0.00038	GCC	TTLL10	-	NULL	ENSG00000162571		0.652	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10	HGNC	protein_coding	OTTHUMT00000002421.3	-	0.00	90	0	G	NM_153254		1117146	+1	tier1	-	no_errors	ENST00000379289	ensembl	human	known	74_37	missense	12.63	82	12	SNP	0.000	T
TTLL11	158135	genome.wustl.edu	37	9	124632949	124632949	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:124632949G>A	ENST00000321582.5	-	7	2017	c.1830C>T	c.(1828-1830)aaC>aaT	p.N610N	TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	0					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CGGGGTTGGCGTTGCAGTCTG	0.527																																																	0													181.0	164.0	169.0					9																	124632949		692	1591	2283	SO:0001819	synonymous_variant	0			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000321582.5:c.1830C>T	9.37:g.124632949G>A				Silent	SNP	pfam_TTL/TTLL_fam	p.N610	ENST00000321582.5	37	c.1830	CCDS48012.1	9																																																																																			TTLL11	-	NULL	ENSG00000175764		0.527	TTLL11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL11	HGNC	protein_coding		-	0.00	46	0	G	XM_088486		124632949	-1	tier1	-	no_errors	ENST00000321582	ensembl	human	known	74_37	silent	47.22	19	17	SNP	0.000	A
TTLL3	26140	genome.wustl.edu	37	3	9868737	9868737	+	Missense_Mutation	SNP	G	G	A	rs202230845		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:9868737G>A	ENST00000547186.1	+	9	1147	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	TTLL3_ENST00000430793.1_Missense_Mutation_p.V99M|TTLL3_ENST00000397241.1_Missense_Mutation_p.V99M|TTLL3_ENST00000455274.1_Missense_Mutation_p.V99M|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.V372M|TTLL3_ENST00000383827.1_Missense_Mutation_p.V99M|TTLL3_ENST00000426895.4_Missense_Mutation_p.V454M|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000427853.3_Missense_Mutation_p.V99M	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	311	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CGGCAACCCCGTGGTGATGAA	0.572																																																	0								G	MET/VAL,MET/VAL	0,4406		0,0,2203	183.0	162.0	169.0		1360,1114	-8.2	0.0	3		169	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	TTLL3,ARPC4-TTLL3	NM_001025930.3,NM_001198793.1	21,21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	454/916,372/626	9868737	3,13003	2203	4300	6503	SO:0001583	missense	0				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.931G>A	3.37:g.9868737G>A	ENSP00000446659:p.Val311Met		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.V454M	ENST00000547186.1	37	c.1360		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.307|2.307	-0.358923|-0.358923	0.05138|0.05138	0.0|0.0	3.49E-4|3.49E-4	ENSG00000214021|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000310252|ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793	.|T;T;T;T;T;T;T;T;T	.|0.05786	.|3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	5.09|5.09	-8.21|-8.21	0.01041|0.01041	.|.	.|0.461581	.|0.20798	.|N	.|0.085490	T|T	0.02418|0.02418	0.0074|0.0074	N|N	0.02697|0.02697	-0.525|-0.525	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.19583	.|0.037;0.002;0.0;0.001;0.013;0.0	.|B;B;B;B;B;B	.|0.20184	.|0.017;0.003;0.002;0.006;0.028;0.0	T|T	0.30504|0.30504	-0.9976|-0.9976	5|10	.|0.35671	.|T	.|0.21	.|.	15.974|15.974	0.80044|0.80044	0.1952:0.7392:0.0656:0.0|0.1952:0.7392:0.0656:0.0	.|.	.|250;99;99;99;311;372	.|B4DM47;Q9Y4R7-2;B2RCJ2;Q9Y4R7-5;Q9Y4R7;E7ETI0	.|.;.;.;.;TTLL3_HUMAN;.	H|M	266|372;454;311;99;99;249;99;99;99	.|ENSP00000380427:V372M;ENSP00000392549:V454M;ENSP00000446659:V311M;ENSP00000380416:V99M;ENSP00000394462:V99M;ENSP00000398097:V249M;ENSP00000373338:V99M;ENSP00000409632:V99M;ENSP00000403874:V99M	.|ENSP00000380416:V99M	R|V	+|+	2|1	0|0	TTLL3|ARPC4-TTLL3;TTLL3	9843737|9843737	0.000000|0.000000	0.05858|0.05858	0.047000|0.047000	0.18901|0.18901	0.376000|0.376000	0.30014|0.30014	-0.448000|-0.448000	0.06820|0.06820	-1.892000|-1.892000	0.01108|0.01108	-1.655000|-1.655000	0.00754|0.00754	CGT|GTG	TTLL3	-	pfam_TTL/TTLL_fam	ENSG00000214021		0.572	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		-	0.00	57	0	G	NM_001025930.2		9868737	+1	tier1	rs202230845	no_errors	ENST00000426895	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.001	A
TTLL5	23093	genome.wustl.edu	37	14	76259374	76259374	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:76259374G>A	ENST00000298832.9	+	27	3307	c.3102G>A	c.(3100-3102)caG>caA	p.Q1034Q	TTLL5_ENST00000556893.1_Silent_p.Q585Q|TTLL5_ENST00000554510.1_Silent_p.Q543Q|TTLL5_ENST00000557636.1_Silent_p.Q1049Q	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1034					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTGAACTTCAGCGGCTAGCTG	0.478																																																	0													102.0	92.0	96.0					14																	76259374		2203	4300	6503	SO:0001819	synonymous_variant	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3102G>A	14.37:g.76259374G>A			B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	pfam_TTL/TTLL_fam	p.Q1034	ENST00000298832.9	37	c.3102	CCDS32124.1	14																																																																																			TTLL5	-	NULL	ENSG00000119685		0.478	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	-	0.00	61	0	G	NM_015072		76259374	+1	tier1	-	no_errors	ENST00000298832	ensembl	human	known	74_37	silent	19.05	34	8	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179560737	179560737	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:179560737delT	ENST00000591111.1	-	112	30335	c.30111delA	c.(30109-30111)aaafs	p.K10037fs	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Frame_Shift_Del_p.K10354fs|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K9110fs|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			cgtgaacttcttttttagctt	0.413																																																	0													174.0	153.0	160.0					2																	179560737		1491	3208	4699	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30111delA	2.37:g.179560737delT	ENSP00000465570:p.Lys10037fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E9111fs	ENST00000591111.1	37	c.27330		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	89	0	T	NM_133378		179560737	-1	tier1		no_errors	ENST00000342992	ensembl	human	known	74_37	frame_shift_del	24.39	62	20	DEL	0.016	-
TTN	7273	genome.wustl.edu	37	2	179411075	179411075	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:179411075delT	ENST00000591111.1	-	292	90284	c.90060delA	c.(90058-90060)aaafs	p.K30020fs	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K22721fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K22788fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.K31661fs|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K29093fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.K22596fs|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30020	Ig-like 136.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAAGAGACTTTTTCACAGA	0.443																																																	0													153.0	150.0	151.0					2																	179411075		1934	4139	6073	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90060delA	2.37:g.179411075delT	ENSP00000465570:p.Lys30020fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V29094fs	ENST00000591111.1	37	c.87279		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	43	0	T	NM_133378		179411075	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	frame_shift_del	19.05	34	8	DEL	1.000	0
TTN	7273	genome.wustl.edu	37	2	179587594	179587594	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:179587594G>C	ENST00000591111.1	-	74	21305	c.21081C>G	c.(21079-21081)tgC>tgG	p.C7027W	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.C7344W|TTN_ENST00000342992.6_Missense_Mutation_p.C6100W|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12611	Ig-like 52.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCAACTTGGCATTGTAAAG	0.443																																																	0													48.0	49.0	49.0					2																	179587594		1972	4156	6128	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21081C>G	2.37:g.179587594G>C	ENSP00000465570:p.Cys7027Trp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.C6100W	ENST00000591111.1	37	c.18300		2	.	.	.	.	.	.	.	.	.	.	G	7.947	0.744032	0.15710	.	.	ENSG00000155657	ENST00000342992	T	0.63096	-0.02	5.8	3.99	0.46301	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85557	0.5724	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88178	0.2869	9	0.87932	D	0	.	9.1968	0.37233	0.2767:0.0:0.7233:0.0	.	7027	Q8WZ42	TITIN_HUMAN	W	6100	ENSP00000343764:C6100W	ENSP00000343764:C6100W	C	-	3	2	TTN	179295839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.193000	0.42658	1.444000	0.47605	0.650000	0.86243	TGC	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	68	0	G	NM_133378		179587594	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179616234	179616234	+	Intron	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:179616234T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I3631M|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTCAACCTTTATCCTATCTT	0.373																																																	0													158.0	153.0	155.0					2																	179616234		2203	4300	6503	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1616A>G	2.37:g.179616234T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I3631M	ENST00000591111.1	37	c.10893		2	.	.	.	.	.	.	.	.	.	.	T	4.067	0.010313	0.07912	.	.	ENSG00000155657	ENST00000360870	T	0.59772	0.24	5.58	0.318	0.15867	.	.	.	.	.	T	0.33527	0.0866	N	0.12182	0.205	0.80722	D	1	B	0.15473	0.013	B	0.15484	0.013	T	0.05225	-1.0898	9	0.40728	T	0.16	.	6.2624	0.20907	0.1183:0.365:0.0:0.5167	.	3631	Q8WZ42-6	.	M	3631	ENSP00000354117:I3631M	ENSP00000354117:I3631M	I	-	3	3	TTN	179324479	0.889000	0.30405	0.797000	0.32132	0.556000	0.35491	-0.052000	0.11865	0.112000	0.17975	-0.256000	0.11100	ATA	TTN	-	NULL	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	41	0	T	NM_133378		179616234	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.920	C
TUBA8	51807	genome.wustl.edu	37	22	18613631	18613631	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:18613631C>A	ENST00000330423.3	+	5	1151	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T	TUBA8_ENST00000316027.6_Missense_Mutation_p.P294T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	360					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTACCAGCCCCCGACCGTGGT	0.627																																																	0													39.0	42.0	41.0					22																	18613631		2203	4300	6503	SO:0001583	missense	0			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.1078C>A	22.37:g.18613631C>A	ENSP00000333326:p.Pro360Thr		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.P360T	ENST00000330423.3	37	c.1078	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	18.03	3.533545	0.64972	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.89617	-2.54;-2.54;-2.54	5.29	5.29	0.74685	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	H	0.98048	4.135	0.80722	D	1	D;D;D	0.89917	0.999;0.993;1.0	D;D;D	0.97110	0.997;0.977;1.0	D	0.98268	1.0502	10	0.87932	D	0	.	18.2967	0.90148	0.0:1.0:0.0:0.0	.	294;384;360	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	T	294;360;384	ENSP00000318575:P294T;ENSP00000333326:P360T;ENSP00000412646:P384T	ENSP00000318575:P294T	P	+	1	0	TUBA8	16993631	1.000000	0.71417	0.671000	0.29857	0.887000	0.51463	7.792000	0.85828	2.625000	0.88918	0.655000	0.94253	CCG	TUBA8	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin	ENSG00000183785		0.627	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	-	0.00	55	0	C	NM_018943		18613631	+1	tier1	-	no_errors	ENST00000330423	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	A
TUBB3	10381	genome.wustl.edu	37	16	90001340	90001340	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:90001340G>A	ENST00000315491.7	+	4	604	c.481G>A	c.(481-483)Gac>Aac	p.D161N	TUBB3_ENST00000304984.5_Missense_Mutation_p.D89N|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.D508N|TUBB3_ENST00000554444.1_Missense_Mutation_p.D89N	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	161					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	GGAGTATCCCGACCGCATCAT	0.647																																																	0													168.0	130.0	143.0					16																	90001340		2198	4300	6498	SO:0001583	missense	0			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.481G>A	16.37:g.90001340G>A	ENSP00000320295:p.Asp161Asn		A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.D161N	ENST00000315491.7	37	c.481	CCDS10988.1	16	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125791	0.56721	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	4.65	4.65	0.58169	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.53938	D	0.000053	T	0.75744	0.3891	M	0.85630	2.765	0.54753	D	0.999986	B;B	0.32829	0.043;0.386	B;B	0.42062	0.374;0.374	T	0.76806	-0.2823	9	.	.	.	.	16.6661	0.85253	0.0:0.0:1.0:0.0	.	161;161	Q13509;B2RBD5	TBB3_HUMAN;.	N	508;161;89;89;89;161	ENSP00000451560:D508N;ENSP00000302777:D89N;ENSP00000450538:D89N;ENSP00000451617:D89N;ENSP00000320295:D161N	.	D	+	1	0	RP11-566K11.2;TUBB3	88528841	1.000000	0.71417	0.942000	0.38095	0.944000	0.59088	9.561000	0.98142	2.297000	0.77311	0.511000	0.50034	GAC	TUBB3	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000258947		0.647	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB3	Uniprot_gn	protein_coding	OTTHUMT00000272874.1	-	0.00	81	0	G	NM_006086		90001340	+1	tier1	-	no_errors	ENST00000315491	ensembl	human	known	74_37	missense	13.70	63	10	SNP	1.000	A
TUSC3	7991	genome.wustl.edu	37	8	15508230	15508230	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:15508230A>G	ENST00000503731.1	+	3	481	c.333A>G	c.(331-333)atA>atG	p.I111M	TUSC3_ENST00000506802.1_Missense_Mutation_p.I111M|TUSC3_ENST00000382020.4_Missense_Mutation_p.I111M|TUSC3_ENST00000509380.1_Missense_Mutation_p.I111M|TUSC3_ENST00000503191.1_Intron	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	111	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AATATCAAATACTGGCGAACT	0.398																																																	0													218.0	211.0	213.0					8																	15508230		2203	4300	6503	SO:0001583	missense	0			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.333A>G	8.37:g.15508230A>G	ENSP00000424544:p.Ile111Met		A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.I111M	ENST00000503731.1	37	c.333	CCDS5994.1	8	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971521	0.53614	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.6	-3.82	0.04281	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.048483	0.85682	D	0.000000	T	0.56124	0.1964	M	0.85041	2.73	0.43271	D	0.995222	B;P;B;D;P;D	0.58268	0.321;0.872;0.039;0.982;0.872;0.966	B;P;B;D;P;P	0.66351	0.113;0.824;0.029;0.943;0.824;0.837	T	0.58504	-0.7625	10	0.54805	T	0.06	-21.5514	6.7843	0.23665	0.1378:0.6336:0.1091:0.1195	.	111;111;111;111;111;111	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	M	111	ENSP00000371450:I111M;ENSP00000425777:I111M;ENSP00000423426:I111M;ENSP00000424544:I111M	ENSP00000221167:I111M	I	+	3	3	TUSC3	15552601	0.546000	0.26457	0.991000	0.47740	0.992000	0.81027	-0.226000	0.09139	-0.413000	0.07507	0.533000	0.62120	ATA	TUSC3	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000104723		0.398	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TUSC3	HGNC	protein_coding	OTTHUMT00000365367.1	-	0.00	74	0	A	NM_006765		15508230	+1	tier1	-	no_errors	ENST00000503731	ensembl	human	known	74_37	missense	7.35	63	5	SNP	0.992	G
TVP23A	780776	genome.wustl.edu	37	16	10867203	10867203	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:10867203delA	ENST00000299866.8	-	5	711	c.420delT	c.(418-420)tttfs	p.F140fs	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	140						integral component of membrane (GO:0016021)											ATAAGGTGCTAAAAAAAAACA	0.443																																																	0													74.0	75.0	74.0					16																	10867203		1880	4107	5987	SO:0001589	frameshift_variant	0				CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member A"""	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.420delT	16.37:g.10867203delA	ENSP00000299866:p.Phe140fs		B2RUV4|B7ZW18	Frame_Shift_Del	DEL	pfam_DUF846_euk	p.F140fs	ENST00000299866.8	37	c.420	CCDS45408.1	16																																																																																			TVP23A	-	pfam_DUF846_euk	ENSG00000166676		0.443	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TVP23A	HGNC	protein_coding	OTTHUMT00000436680.1		0.00	50	0	A	NM_001079512		10867203	-1	tier1		no_errors	ENST00000299866	ensembl	human	known	74_37	frame_shift_del	38.60	35	22	DEL	1.000	-
TVP23C	201158	genome.wustl.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000583206.1_5'Flank	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T			Q3LIC7	Splice_Site	SNP	-	e5-2	ENST00000225576.3	37	c.162-2	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.	TVP23C	-	-	ENSG00000175106		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	TVP23C	HGNC	protein_coding	OTTHUMT00000130705.2	-	0.00	150	0	C	NM_145301		15441469	-1	tier1	-	no_errors	ENST00000523573	ensembl	human	known	74_37	splice_site	9.77	120	13	SNP	0.998	T
TXNDC11	51061	genome.wustl.edu	37	16	11773555	11773555	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:11773555G>A	ENST00000356957.3	-	13	2561	c.2454C>T	c.(2452-2454)agC>agT	p.S818S	TXNDC11_ENST00000283033.5_Silent_p.S791S|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	818					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGACTGCCTCGCTCTGAAGAC	0.537																																																	0													80.0	69.0	73.0					16																	11773555		2197	4300	6497	SO:0001819	synonymous_variant	0			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2454C>T	16.37:g.11773555G>A			O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.S818	ENST00000356957.3	37	c.2454		16																																																																																			TXNDC11	-	NULL	ENSG00000153066		0.537	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	-	0.00	47	0	G	NM_015914		11773555	-1	tier1	-	no_errors	ENST00000356957	ensembl	human	known	74_37	silent	18.92	30	7	SNP	0.148	A
TXNDC11	51061	genome.wustl.edu	37	16	11824630	11824630	+	Splice_Site	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:11824630A>T	ENST00000356957.3	-	4	677	c.570T>A	c.(568-570)agT>agA	p.S190R	TXNDC11_ENST00000283033.5_Splice_Site_p.S190R			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	190	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTGGTCCAAAACTAGTACCAa	0.343																																																	0													54.0	54.0	54.0					16																	11824630		2197	4300	6497	SO:0001630	splice_region_variant	0			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.570-1T>A	16.37:g.11824630A>T			O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.S190R	ENST00000356957.3	37	c.570		16	.	.	.	.	.	.	.	.	.	.	A	10.11	1.261630	0.23051	.	.	ENSG00000153066	ENST00000356957;ENST00000283033;ENST00000436567	T;T	0.22539	1.95;1.95	5.11	5.11	0.69529	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.082643	0.85682	D	0.000000	T	0.08537	0.0212	N	0.12746	0.255	0.44825	D	0.997836	B;P	0.37731	0.127;0.607	B;B	0.30782	0.066;0.12	T	0.21177	-1.0253	10	0.08381	T	0.77	.	8.8256	0.35052	0.9168:0.0:0.0832:0.0	.	190;190	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	R	190;190;133	ENSP00000349439:S190R;ENSP00000283033:S190R	ENSP00000283033:S190R	S	-	3	2	TXNDC11	11732131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.496000	0.45346	2.138000	0.66242	0.482000	0.46254	AGT	TXNDC11	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000153066		0.343	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	-	0.00	105	0	A	NM_015914	Missense_Mutation	11824630	-1	tier1	-	no_errors	ENST00000356957	ensembl	human	known	74_37	missense	8.33	99	9	SNP	1.000	T
UBA6	55236	genome.wustl.edu	37	4	68530907	68530907	+	Splice_Site	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:68530907delA	ENST00000322244.5	-	10	956	c.897delT	c.(895-897)ttt>tt	p.F299fs	UBA6_ENST00000420827.2_Splice_Site_p.F299fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	299					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAATACTTACAAAAAAAACTG	0.323																																																	0													42.0	46.0	45.0					4																	68530907		2198	4296	6494	SO:0001630	splice_region_variant	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.897+1T>-	4.37:g.68530907delA			A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Frame_Shift_Del	DEL	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.F299fs	ENST00000322244.5	37	c.897	CCDS3516.1	4																																																																																			UBA6	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000033178		0.323	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2		0.00	100	0	A	NM_018227	Frame_Shift_Del	68530907	-1	tier1		no_errors	ENST00000322244	ensembl	human	known	74_37	frame_shift_del	17.57	61	13	DEL	1.000	-
UBE2O	63893	genome.wustl.edu	37	17	74396248	74396248	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:74396248delC	ENST00000319380.7	-	8	1199	c.1135delG	c.(1135-1137)gagfs	p.E379fs	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	379					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ATAGAGCCCTCCCCCTGGGCG	0.562																																																	0													70.0	65.0	67.0					17																	74396248		2203	4300	6503	SO:0001589	frameshift_variant	0			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1135delG	17.37:g.74396248delC	ENSP00000323687:p.Glu379fs		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Frame_Shift_Del	DEL	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E379fs	ENST00000319380.7	37	c.1135	CCDS32742.1	17																																																																																			UBE2O	-	NULL	ENSG00000175931		0.562	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1		0.00	65	0	C	NM_022066		74396248	-1	tier1		no_errors	ENST00000319380	ensembl	human	known	74_37	frame_shift_del	33.33	40	20	DEL	1.000	-
UBE3C	9690	genome.wustl.edu	37	7	156963108	156963109	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:156963108_156963109insT	ENST00000348165.5	+	4	666_667	c.306_307insT	c.(307-309)tttfs	p.F103fs	UBE3C_ENST00000389103.4_Frame_Shift_Ins_p.F60fs	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	103					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GGCAGCTTCTGTTTTTTTACAA	0.421																																																	0																																										SO:0001589	frameshift_variant	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.313dupT	7.37:g.156963115_156963115dupT	ENSP00000309198:p.Phe103fs		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Frame_Shift_Ins	INS	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.Y104fs	ENST00000348165.5	37	c.306_307	CCDS34789.1	7																																																																																			UBE3C	-	NULL	ENSG00000009335		0.421	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1		0.00	49	0	-	NM_014671		156963109	+1	tier1		no_errors	ENST00000348165	ensembl	human	known	74_37	frame_shift_ins	21.82	43	12	INS	1.000:1.000	T
UBE3C	9690	genome.wustl.edu	37	7	156994495	156994495	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:156994495T>C	ENST00000348165.5	+	11	1772	c.1412T>C	c.(1411-1413)aTc>aCc	p.I471T		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	471					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACACGGATGATCACAGGGTAT	0.388																																																	0													140.0	126.0	131.0					7																	156994495		2203	4300	6503	SO:0001583	missense	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1412T>C	7.37:g.156994495T>C	ENSP00000309198:p.Ile471Thr		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.I471T	ENST00000348165.5	37	c.1412	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167947	0.78339	.	.	ENSG00000009335	ENST00000348165	T	0.44083	0.93	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.63428	1.95	0.80722	D	1	P;B	0.45634	0.863;0.001	B;B	0.41236	0.351;0.001	T	0.31668	-0.9935	10	0.14252	T	0.57	-26.9096	15.923	0.79590	0.0:0.0:0.0:1.0	.	471;471	Q15386;Q15386-2	UBE3C_HUMAN;.	T	471	ENSP00000309198:I471T	ENSP00000309198:I471T	I	+	2	0	UBE3C	156687256	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.472000	0.60189	2.166000	0.68216	0.443000	0.29094	ATC	UBE3C	-	NULL	ENSG00000009335		0.388	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	-	0.00	42	0	T	NM_014671		156994495	+1	tier1	-	no_errors	ENST00000348165	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	C
UBN1	29855	genome.wustl.edu	37	16	4924667	4924668	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:4924667_4924668insA	ENST00000396658.4	+	14	2959_2960	c.2256_2257insA	c.(2257-2259)aaafs	p.K753fs	UBN1_ENST00000545171.1_Frame_Shift_Ins_p.K753fs|UBN1_ENST00000262376.6_Frame_Shift_Ins_p.K753fs|UBN1_ENST00000590769.1_Frame_Shift_Ins_p.K753fs	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	753					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCTCTCAGGAGAAAAAACCAGA	0.545																																																	0																																										SO:0001589	frameshift_variant	0			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2262dupA	16.37:g.4924673_4924673dupA	ENSP00000379894:p.Lys753fs		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Frame_Shift_Ins	INS	NULL	p.P754fs	ENST00000396658.4	37	c.2256_2257	CCDS10525.1	16																																																																																			UBN1	-	NULL	ENSG00000118900		0.545	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1		0.00	48	0	-	NM_016936		4924668	+1	tier1		no_errors	ENST00000262376	ensembl	human	known	74_37	frame_shift_ins	29.41	36	15	INS	1.000:1.000	A
UBR1	197131	genome.wustl.edu	37	15	43252855	43252855	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:43252855delT	ENST00000290650.4	-	43	4823	c.4745delA	c.(4744-4746)aacfs	p.N1582fs	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1582					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GACCACGGTGTTTTTTTGCTT	0.403																																																	0													136.0	109.0	118.0					15																	43252855		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4745delA	15.37:g.43252855delT	ENSP00000290650:p.Asn1582fs		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Frame_Shift_Del	DEL	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.N1582fs	ENST00000290650.4	37	c.4745	CCDS10091.1	15																																																																																			UBR1	-	NULL	ENSG00000159459		0.403	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1		0.00	47	0	T	NM_174916		43252855	-1	tier1		no_errors	ENST00000290650	ensembl	human	known	74_37	frame_shift_del	38.24	21	13	DEL	0.838	-
UBR5	51366	genome.wustl.edu	37	8	103271268	103271268	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:103271268G>A	ENST00000520539.1	-	57	8652	c.8046C>T	c.(8044-8046)tgC>tgT	p.C2682C	KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000518205.1_Silent_p.C410C|UBR5_ENST00000521922.1_Silent_p.C2675C|UBR5_ENST00000220959.4_Silent_p.C2681C	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2682	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGACTTCACCGCAGCCATTTA	0.333																																					Ovarian(131;96 1741 5634 7352 27489)												0													101.0	104.0	103.0					8																	103271268		2203	4300	6503	SO:0001819	synonymous_variant	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8046C>T	8.37:g.103271268G>A			B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.C2682	ENST00000520539.1	37	c.8046	CCDS34933.1	8																																																																																			UBR5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000104517		0.333	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	-	0.00	42	0	G	NM_015902		103271268	-1	tier1	-	no_errors	ENST00000520539	ensembl	human	known	74_37	silent	8.33	66	6	SNP	1.000	A
UBR5	51366	genome.wustl.edu	37	8	103309203	103309204	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:103309203_103309204insA	ENST00000520539.1	-	28	4188_4189	c.3582_3583insT	c.(3580-3585)tttgagfs	p.E1195fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.E1195fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.E1189fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1195					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTTCGACACTCAAAAATATCCT	0.322																																					Ovarian(131;96 1741 5634 7352 27489)												0																																										SO:0001589	frameshift_variant	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3583dupT	8.37:g.103309208_103309208dupA	ENSP00000429084:p.Glu1195fs		B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.E1194fs	ENST00000520539.1	37	c.3583_3582	CCDS34933.1	8																																																																																			UBR5	-	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	ENSG00000104517		0.322	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2		0.00	67	0	0	NM_015902		103309204	-1			no_errors	ENST00000520539	ensembl	human	known	74_37	frame_shift_ins	7.69	72	6	INS	1.000:1.000	A
UBXN7	26043	genome.wustl.edu	37	3	196159010	196159011	+	Intron	INS	-	-	G	rs375758398		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:196159010_196159011insG	ENST00000296328.4	-	1	148				UBXN7-AS1_ENST00000598881.1_RNA|UBXN7_ENST00000535858.1_Intron|UBXN7_ENST00000428095.1_Intron|UBXN7-AS1_ENST00000442941.1_RNA	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7							Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTATCGGGAGCGGGGGGGGGCT	0.693																																																	0																																										SO:0001627	intron_variant	0			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.73+186->C	3.37:g.196159019_196159019dupG			D3DXB3|Q6ZP77|Q86X20|Q8N327	RNA	INS	-	NULL	ENST00000296328.4	37	NULL	CCDS43191.1	3																																																																																			UBXN7-AS1	-	-	ENSG00000225822		0.693	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN7-AS1	HGNC	protein_coding	OTTHUMT00000340938.2		0.00	44	0	-	XM_087353		196159011	+1	tier1		no_errors	ENST00000598881	ensembl	human	known	74_37	rna	11.63	38	5	INS	0.003:0.004	G
UCK2	7371	genome.wustl.edu	37	1	165877195	165877195	+	3'UTR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:165877195delT	ENST00000367879.4	+	0	1224				UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000469256.2_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2						cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATGCCTTTGATTTTTTTTTTC	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.*135T>-	1.37:g.165877195delT			Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	RNA	DEL	-	NULL	ENST00000367879.4	37	NULL	CCDS1252.1	1																																																																																			UCK2	-	-	ENSG00000143179		0.383	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK2	HGNC	protein_coding	OTTHUMT00000096753.1		0.00	57	0	T	NM_012474		165877195	+1	tier1		no_errors	ENST00000462329	ensembl	human	known	74_37	rna	29.03	22	9	DEL	0.021	-
UGDH	7358	genome.wustl.edu	37	4	39505575	39505575	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:39505575delT	ENST00000316423.6	-	11	1636	c.1294delA	c.(1294-1296)atgfs	p.M432fs	UGDH_ENST00000507089.1_Frame_Shift_Del_p.M335fs|UGDH_ENST00000506179.1_Frame_Shift_Del_p.M432fs|UGDH_ENST00000501493.2_Frame_Shift_Del_p.M365fs	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	432					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						GGCTTTAGCATTTTTTTATGA	0.453																																																	0													96.0	92.0	94.0					4																	39505575		2203	4300	6503	SO:0001589	frameshift_variant	0			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1294delA	4.37:g.39505575delT	ENSP00000319501:p.Met432fs		B3KUU2|B4DN25|O60589	Frame_Shift_Del	DEL	pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man	p.M432fs	ENST00000316423.6	37	c.1294	CCDS3455.1	4																																																																																			UGDH	-	pfam_UDP-Glc/GDP-Man_DH_C,superfamily_UDP-Glc/GDP-Man_DH_C,tigrfam_UDP-Glc/GDP-Man	ENSG00000109814		0.453	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGDH	HGNC	protein_coding	OTTHUMT00000216818.3		0.00	32	0	T	NM_003359		39505575	-1	tier1		no_errors	ENST00000316423	ensembl	human	known	74_37	frame_shift_del	17.14	29	6	DEL	1.000	-
UGT1A3	54659	genome.wustl.edu	37	2	234638283	234638283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:234638283delT	ENST00000482026.1	+	1	530	c.511delT	c.(511-513)tttfs	p.F172fs	UGT1A6_ENST00000373424.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Frame_Shift_Del_p.F172fs|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	172					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	TCCTACTGTGTTTTTTTTGAG	0.443																																																	0													185.0	188.0	187.0					2																	234638283		2203	4300	6503	SO:0001589	frameshift_variant	0			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.511delT	2.37:g.234638283delT	ENSP00000418532:p.Phe172fs		B8K287	Frame_Shift_Del	DEL	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L173fs	ENST00000482026.1	37	c.511	CCDS2509.1	2																																																																																			UGT1A3	-	pfam_UDP_glucos_trans	ENSG00000243135		0.443	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	HGNC	protein_coding	OTTHUMT00000130983.1		0.00	94	0	T	NM_019093		234638283	+1	tier1		no_errors	ENST00000482026	ensembl	human	known	74_37	frame_shift_del	27.72	73	28	DEL	0.996	-
UHMK1	127933	genome.wustl.edu	37	1	162473599	162473599	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:162473599C>T	ENST00000489294.1	+	4	967	c.809C>T	c.(808-810)gCc>gTc	p.A270V	UHMK1_ENST00000538489.1_Missense_Mutation_p.A270V|UHMK1_ENST00000545294.1_Missense_Mutation_p.A196V|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GTGGTGAATGCCGCAATTCCA	0.373																																																	0													146.0	128.0	134.0					1																	162473599		2203	4300	6503	SO:0001583	missense	0			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.809C>T	1.37:g.162473599C>T	ENSP00000420270:p.Ala270Val		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom	p.A270V	ENST00000489294.1	37	c.809	CCDS1239.1	1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192949	0.58017	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.64803	-0.12;-0.12;-0.12	6.07	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112701	0.64402	D	0.000007	T	0.27832	0.0685	L	0.31294	0.92	.	.	.	B;B;B	0.28820	0.103;0.224;0.007	B;B;B	0.26094	0.039;0.066;0.022	T	0.06127	-1.0844	9	0.30078	T	0.28	-11.5219	9.158	0.37005	0.0:0.7758:0.147:0.0772	.	270;270;196	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	V	196;270;270	ENSP00000441226:A196V;ENSP00000446416:A270V;ENSP00000420270:A270V	ENSP00000420270:A270V	A	+	2	0	UHMK1	160740223	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.179000	0.65043	0.865000	0.35603	0.655000	0.94253	GCC	UHMK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000152332		0.373	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	HGNC	protein_coding	OTTHUMT00000076788.1	-	0.00	101	0	C	NM_175866		162473599	+1	tier1	-	no_errors	ENST00000489294	ensembl	human	known	74_37	missense	5.62	84	5	SNP	0.998	T
UHRF1BP1	54887	genome.wustl.edu	37	6	34831896	34831896	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:34831896A>G	ENST00000192788.5	+	15	3504	c.3333A>G	c.(3331-3333)tcA>tcG	p.S1111S	UHRF1BP1_ENST00000452449.2_Silent_p.S1111S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1111							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATGGTGTCTCATTGGATAGCA	0.532																																																	0													151.0	158.0	155.0					6																	34831896		2060	4207	6267	SO:0001819	synonymous_variant	0			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3333A>G	6.37:g.34831896A>G			Q9NXE0	Silent	SNP	NULL	p.S1111	ENST00000192788.5	37	c.3333	CCDS43455.1	6																																																																																			UHRF1BP1	-	NULL	ENSG00000065060		0.532	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	-	0.00	53	0	A	NM_017754		34831896	+1	tier1	-	no_errors	ENST00000192788	ensembl	human	known	74_37	silent	18.03	50	11	SNP	0.030	G
UHRF2	115426	genome.wustl.edu	37	9	6499821	6499822	+	Intron	INS	-	-	C	rs568194706|rs57099869	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:6499821_6499822insC	ENST00000276893.5	+	13	2076				UHRF2_ENST00000485617.2_Intron	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase						cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CTCTCCCTCCTCCCCCCCCATC	0.485																																																	0																																										SO:0001627	intron_variant	0			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1909-13->C	9.37:g.6499829_6499829dupC			Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	RNA	INS	-	NULL	ENST00000276893.5	37	NULL	CCDS6469.1	9																																																																																			UHRF2	-	-	ENSG00000147854		0.485	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF2	HGNC	protein_coding	OTTHUMT00000051665.3		0.00	83	0	-	NM_152306		6499822	+1	tier1		no_errors	ENST00000492853	ensembl	human	known	74_37	rna	13.56	51	8	INS	0.000:0.000	C
UNC5B	219699	genome.wustl.edu	37	10	73051550	73051550	+	Silent	SNP	G	G	T	rs139635033	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:73051550G>T	ENST00000335350.6	+	10	2072	c.1656G>T	c.(1654-1656)ctG>ctT	p.L552L	UNC5B_ENST00000373192.4_Silent_p.L541L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	552	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTGGCTGCCTGGGTGGGAGGC	0.687																																																	0													23.0	24.0	23.0					10																	73051550		2203	4298	6501	SO:0001819	synonymous_variant	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1656G>T	10.37:g.73051550G>T			Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.L552	ENST00000335350.6	37	c.1656	CCDS7309.1	10																																																																																			UNC5B	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000107731		0.687	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1	-	0.00	63	0	G	NM_170744		73051550	+1	tier1	-	no_errors	ENST00000335350	ensembl	human	known	74_37	silent	8.89	40	4	SNP	1.000	T
UNC80	285175	genome.wustl.edu	37	2	210818993	210818993	+	Splice_Site	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:210818993A>C	ENST00000439458.1	+	47	7338	c.7258A>C	c.(7258-7260)Agg>Cgg	p.R2420R	UNC80_ENST00000272845.6_Splice_Site_p.R2415R	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2420					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGTCCTCACCAGGTAATCCCA	0.448																																																	0													88.0	91.0	90.0					2																	210818993		692	1591	2283	SO:0001630	splice_region_variant	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.7259+1A>C	2.37:g.210818993A>C			B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	NULL	p.R2420	ENST00000439458.1	37	c.7258	CCDS46504.1	2																																																																																			UNC80	-	NULL	ENSG00000144406		0.448	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		-	0.00	40	0	A	NM_182587	Silent	210818993	+1	tier1	-	no_errors	ENST00000439458	ensembl	human	known	74_37	silent	39.39	20	13	SNP	1.000	C
USH2A	7399	genome.wustl.edu	37	1	216373117	216373117	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:216373117C>A	ENST00000307340.3	-	17	4049	c.3663G>T	c.(3661-3663)caG>caT	p.Q1221H	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.Q1221H|USH2A_ENST00000366943.2_Missense_Mutation_p.Q1221H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1221	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGTACACGCCTGTACAGAAA	0.502										HNSCC(13;0.011)																																							0													84.0	84.0	84.0					1																	216373117		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3663G>T	1.37:g.216373117C>A	ENSP00000305941:p.Gln1221His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q1221H	ENST00000307340.3	37	c.3663	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512306	0.64522	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.59364	0.27;0.27;0.27	5.87	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42420	D	0.000705	T	0.69187	0.3083	M	0.76838	2.35	0.41952	D	0.99066	D;D	0.61080	0.989;0.989	P;P	0.59643	0.861;0.832	T	0.71998	-0.4423	10	0.52906	T	0.07	.	7.4982	0.27503	0.0:0.7285:0.0:0.2715	.	1221;1221	O75445-2;O75445	.;USH2A_HUMAN	H	1221	ENSP00000305941:Q1221H;ENSP00000355910:Q1221H;ENSP00000355909:Q1221H	ENSP00000305941:Q1221H	Q	-	3	2	USH2A	214439740	1.000000	0.71417	0.994000	0.49952	0.719000	0.41307	2.373000	0.44266	1.633000	0.50488	-0.137000	0.14449	CAG	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	53	0	C	NM_007123		216373117	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A
USP22	23326	genome.wustl.edu	37	17	20914527	20914527	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:20914527C>T	ENST00000261497.4	-	8	1243	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	USP22_ENST00000537526.2_Missense_Mutation_p.G335D|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	347	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TACCACGTTGCCCTCGCTCCC	0.657																																																	0													33.0	38.0	36.0					17																	20914527		2068	4206	6274	SO:0001583	missense	0			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.1040G>A	17.37:g.20914527C>T	ENSP00000261497:p.Gly347Asp		A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.G347D	ENST00000261497.4	37	c.1040	CCDS42285.1	17	.	.	.	.	.	.	.	.	.	.	C	9.486	1.099331	0.20552	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.09350	2.99;2.99	3.9	3.9	0.45041	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.212247	0.38164	N	0.001789	T	0.07007	0.0178	N	0.17474	0.49	0.42644	D	0.993424	B;B	0.10296	0.003;0.0	B;B	0.10450	0.004;0.005	T	0.31024	-0.9958	10	0.22109	T	0.4	.	12.237	0.54522	0.0:0.8279:0.1721:0.0	.	335;347	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	D	415;335;347	ENSP00000440950:G335D;ENSP00000261497:G347D	ENSP00000261497:G347D	G	-	2	0	USP22	20855119	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	2.445000	0.44899	1.894000	0.54839	0.558000	0.71614	GGC	USP22	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000124422		0.657	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	USP22	HGNC	protein_coding	OTTHUMT00000444169.1	-	0.00	56	0	C			20914527	-1	tier1	-	no_errors	ENST00000261497	ensembl	human	known	74_37	missense	25.00	38	13	SNP	1.000	T
USP24	23358	genome.wustl.edu	37	1	55614173	55614173	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:55614173C>T	ENST00000294383.6	-	17	1930	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	USP24_ENST00000407756.1_Missense_Mutation_p.R484H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	644					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TATGAATGAGCGAGTAATTTC	0.318																																																	0													93.0	80.0	84.0					1																	55614173		1832	4085	5917	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1931G>A	1.37:g.55614173C>T	ENSP00000294383:p.Arg644His		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.R484H	ENST00000294383.6	37	c.1451	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801253	0.90538	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	D;T	0.83335	-1.71;4.34	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	L	0.47716	1.5	0.58432	D	0.999996	D	0.71674	0.998	D	0.72075	0.976	D	0.87360	0.2343	10	0.44086	T	0.13	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	484	B7WPF4	.	H	644;484	ENSP00000294383:R644H;ENSP00000385700:R484H	ENSP00000294383:R644H	R	-	2	0	USP24	55386761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.788000	0.95919	0.650000	0.86243	CGC	USP24	-	NULL	ENSG00000162402		0.318	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0.00	119	0	C			55614173	-1	tier1	-	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	13.45	103	16	SNP	1.000	T
USP27X	389856	genome.wustl.edu	37	X	49642955	49642957	+	5'Flank	DEL	CCT	CCT	-	rs369522979|rs372163314|rs5906887|rs375134493	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:49642955_49642957delCCT	ENST00000508866.2	+	0	0				USP27X-AS1_ENST00000437322.2_lincRNA	NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(7)	7						CTGCTGCCCCCCTCCCCCGGGAT	0.626														12	0.00317881	0.0076	0.0029	3775	,	,		12675	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001631	upstream_gene_variant	0			AW851065	CCDS65260.1	Xp11.23	2007-10-05	2005-08-08			ENSG00000273820		"""Ubiquitin-specific peptidases"""	13486	protein-coding gene	gene with protein product			"""ubiquitin specific protease 27, X chromosome"", ""ubiquitin specific protease 27, X-linked"""			12838346	Standard	NM_001145073		Approved	USP27	uc004dop.3	A6NNY8			X.37:g.49642955_49642957delCCT	Exception_encountered			RNA	DEL	-	NULL	ENST00000508866.2	37	NULL		X																																																																																			USP27X-AS1	-	-	ENSG00000234390		0.626	USP27X-001	KNOWN	basic|appris_principal	protein_coding	USP27X-AS1	HGNC	protein_coding	OTTHUMT00000060837.3		0.00	49	0	CCT	XM_372213		49642957	-1	tier1		no_errors	ENST00000437322	ensembl	human	known	74_37	rna	25.45	41	14	DEL	0.000:0.000:0.000	-
USP27X	389856	genome.wustl.edu	37	X	49643277	49643278	+	5'Flank	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:49643277_49643278insC	ENST00000508866.2	+	0	0				USP27X-AS1_ENST00000437322.2_lincRNA	NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(7)	7						TGGTAGCCCGGCCCCCCCGGAG	0.693																																																	0																																										SO:0001631	upstream_gene_variant	0			AW851065	CCDS65260.1	Xp11.23	2007-10-05	2005-08-08			ENSG00000273820		"""Ubiquitin-specific peptidases"""	13486	protein-coding gene	gene with protein product			"""ubiquitin specific protease 27, X chromosome"", ""ubiquitin specific protease 27, X-linked"""			12838346	Standard	NM_001145073		Approved	USP27	uc004dop.3	A6NNY8			X.37:g.49643284_49643284dupC	Exception_encountered			RNA	INS	-	NULL	ENST00000508866.2	37	NULL		X																																																																																			USP27X-AS1	-	-	ENSG00000234390		0.693	USP27X-001	KNOWN	basic|appris_principal	protein_coding	USP27X-AS1	HGNC	protein_coding	OTTHUMT00000060837.3		0.00	39	0	-	XM_372213		49643278	-1	tier1		no_errors	ENST00000437322	ensembl	human	known	74_37	rna	44.44	10	8	INS	0.001:0.000	C
USP33	23032	genome.wustl.edu	37	1	78207076	78207076	+	Silent	SNP	A	A	G	rs143164238	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:78207076A>G	ENST00000370793.1	-	4	559	c.213T>C	c.(211-213)ctT>ctC	p.L71L	USP33_ENST00000528150.1_5'UTR|USP33_ENST00000370792.3_Silent_p.L71L|USP33_ENST00000357428.1_Silent_p.L71L|USP33_ENST00000370794.3_Silent_p.L40L	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	71					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GACATGCCCAAAGATTTGGTC	0.299																																					Melanoma(152;72 1870 11110 26780 42647)												0								A	,,	1,4403	2.1+/-5.4	0,1,2201	85.0	94.0	91.0		213,120,213	3.0	1.0	1	dbSNP_134	91	1,8585		0,1,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	USP33	NM_015017.3,NM_201624.1,NM_201626.1	,,	0,2,6493	GG,GA,AA		0.0116,0.0227,0.0154	,,	71/943,40/912,71/829	78207076	2,12988	2202	4293	6495	SO:0001819	synonymous_variant	0			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.213T>C	1.37:g.78207076A>G			Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.L71	ENST00000370793.1	37	c.213	CCDS678.1	1																																																																																			USP33	-	pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP	ENSG00000077254		0.299	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	-	0.00	88	0	A	NM_015017		78207076	-1	tier1	rs143164238	no_errors	ENST00000357428	ensembl	human	known	74_37	silent	32.53	56	27	SNP	1.000	G
USP36	57602	genome.wustl.edu	37	17	76798547	76798547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:76798547delT	ENST00000542802.3	-	17	3324	c.2881delA	c.(2881-2883)agafs	p.R961fs	USP36_ENST00000449938.2_Frame_Shift_Del_p.R566fs|USP36_ENST00000312010.6_Frame_Shift_Del_p.R961fs			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	959					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCCTGCTTTCTTTTTTTCTTT	0.532																																																	0													54.0	43.0	47.0					17																	76798547		2203	4300	6503	SO:0001589	frameshift_variant	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2881delA	17.37:g.76798547delT	ENSP00000441214:p.Arg961fs		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R961fs	ENST00000542802.3	37	c.2881	CCDS32755.1	17																																																																																			USP36	-	NULL	ENSG00000055483		0.532	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3		0.00	106	0	T	NM_025090		76798547	-1	tier1		no_errors	ENST00000312010	ensembl	human	known	74_37	frame_shift_del	15.71	59	11	DEL	0.566	-
USP42	84132	genome.wustl.edu	37	7	6185158	6185158	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:6185158C>T	ENST00000306177.5	+	10	1160	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	334	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ATGTGAAATACCCTGAGTATC	0.448																																																	0													170.0	157.0	161.0					7																	6185158		1906	4118	6024	SO:0001819	synonymous_variant	0			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1002C>T	7.37:g.6185158C>T			A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.Y334	ENST00000306177.5	37	c.1002	CCDS47535.1	7																																																																																			USP42	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000106346		0.448	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3		0.00	70	0	C	XM_166526		6185158	+1			no_errors	ENST00000306177	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.469	T
USP7	7874	genome.wustl.edu	37	16	9000392	9000393	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:9000392_9000393insT	ENST00000344836.4	-	13	1516_1517	c.1318_1319insA	c.(1318-1320)acafs	p.T440fs	USP7_ENST00000381886.4_Frame_Shift_Ins_p.T424fs|USP7_ENST00000535863.1_Frame_Shift_Ins_p.T341fs	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	440	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTAGGATCTGTTTTTTGCAAA	0.332																																																	0																																										SO:0001589	frameshift_variant	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1319dupA	16.37:g.9000398_9000398dupT	ENSP00000343535:p.Thr440fs		A6NMY8|B7Z815|H0Y3G8	Frame_Shift_Ins	INS	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.T440fs	ENST00000344836.4	37	c.1319_1318	CCDS32385.1	16																																																																																			USP7	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000187555		0.332	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2		0.00	35	0	-			9000393	-1	tier1		no_errors	ENST00000344836	ensembl	human	known	74_37	frame_shift_ins	25.49	38	13	INS	0.997:1.000	T
UTRN	7402	genome.wustl.edu	37	6	144806531	144806531	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:144806531C>A	ENST00000367545.3	+	27	3698	c.3698C>A	c.(3697-3699)tCt>tAt	p.S1233Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1233					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGGTCTGGTCTTGTTGGATT	0.383																																																	0													255.0	251.0	252.0					6																	144806531		2203	4300	6503	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3698C>A	6.37:g.144806531C>A	ENSP00000356515:p.Ser1233Tyr		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.S1233Y	ENST00000367545.3	37	c.3698	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598626	0.87055	.	.	ENSG00000152818	ENST00000367545	T	0.19938	2.11	5.03	5.03	0.67393	.	0.000000	0.48286	D	0.000198	T	0.37019	0.0988	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.15037	-1.0451	10	0.62326	D	0.03	.	18.7115	0.91658	0.0:1.0:0.0:0.0	.	1233	P46939	UTRO_HUMAN	Y	1233	ENSP00000356515:S1233Y	ENSP00000356515:S1233Y	S	+	2	0	UTRN	144848224	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.697000	0.84279	2.480000	0.83734	0.655000	0.94253	TCT	UTRN	-	pirsf_Dystrophin/utrophin	ENSG00000152818		0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	-	0.00	113	0	C			144806531	+1	tier1	-	no_errors	ENST00000367545	ensembl	human	known	74_37	missense	18.84	56	13	SNP	1.000	A
VANGL2	57216	genome.wustl.edu	37	1	160394994	160394994	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:160394994C>T	ENST00000368061.2	+	8	1866	c.1392C>T	c.(1390-1392)agC>agT	p.S464S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	464					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATTGGTGAGCGAGGAGCCGG	0.552																																																	0													81.0	73.0	76.0					1																	160394994		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1392C>T	1.37:g.160394994C>T			D3DVE9|Q5T212	Silent	SNP	pfam_Strabismus,pirsf_Strabismus	p.S464	ENST00000368061.2	37	c.1392	CCDS30915.1	1																																																																																			VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.552	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	-	0.00	47	0	C	NM_020335		160394994	+1	tier1	-	no_errors	ENST00000368061	ensembl	human	known	74_37	silent	25.00	45	15	SNP	1.000	T
VAMP4	8674	genome.wustl.edu	37	1	171678847	171678847	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:171678847T>A	ENST00000236192.7	-	6	689	c.303A>T	c.(301-303)agA>agT	p.R101S	VAMP4_ENST00000415773.1_Missense_Mutation_p.R100S|VAMP4_ENST00000367740.2_Missense_Mutation_p.R100S|VAMP4_ENST00000482519.1_5'UTR	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	101	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTTGTTTGGATCTGTTGCTAA	0.393																																																	0													191.0	162.0	171.0					1																	171678847		2203	4300	6503	SO:0001583	missense	0			AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"""Vesicle-associated membrane proteins"""	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.303A>T	1.37:g.171678847T>A	ENSP00000236192:p.Arg101Ser		A2IDD8|Q96IY9|Q96J20|Q9UEL7	Missense_Mutation	SNP	pfam_Synaptobrevin,pfscan_Synaptobrevin,prints_Synaptobrevin	p.R101S	ENST00000236192.7	37	c.303	CCDS1298.1	1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.428122	0.62844	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	T;T;T	0.40756	1.02;1.02;1.02	5.46	5.46	0.80206	Synaptobrevin (2);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	N	0.25647	0.755	0.80722	D	1	B;P	0.40360	0.041;0.714	B;B	0.37091	0.022;0.241	T	0.04165	-1.0972	10	0.07030	T	0.85	.	14.3587	0.66754	0.0:0.0:0.0:1.0	.	100;101	O75379-2;O75379	.;VAMP4_HUMAN	S	101;100;100	ENSP00000236192:R101S;ENSP00000415627:R100S;ENSP00000356714:R100S	ENSP00000236192:R101S	R	-	3	2	VAMP4	169945470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.247000	0.51422	2.075000	0.62263	0.528000	0.53228	AGA	VAMP4	-	pfam_Synaptobrevin,pfscan_Synaptobrevin	ENSG00000117533		0.393	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VAMP4	HGNC	protein_coding	OTTHUMT00000304033.2	-	0.00	63	0	T	NM_003762		171678847	-1	tier1	-	no_errors	ENST00000236192	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	A
VARS2	57176	genome.wustl.edu	37	6	30893443	30893443	+	Missense_Mutation	SNP	G	G	A	rs528157661		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:30893443G>A	ENST00000321897.5	+	27	3540	c.2908G>A	c.(2908-2910)Ggc>Agc	p.G970S	VARS2_ENST00000542001.1_Missense_Mutation_p.G830S|VARS2_ENST00000416670.2_Missense_Mutation_p.G970S|VARS2_ENST00000541562.1_Missense_Mutation_p.G1000S|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	970					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTCCCTCCGGCTGGGCCCA	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15704	0.0		0.0	False		,,,				2504	0.0																0													13.0	15.0	15.0					6																	30893443		1497	2702	4199	SO:0001583	missense	0			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2908G>A	6.37:g.30893443G>A	ENSP00000316092:p.Gly970Ser		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.G1000S	ENST00000321897.5	37	c.2998	CCDS34387.1	6	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020947	0.54576	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.56	5.56	0.83823	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.279181	0.32852	N	0.005572	T	0.07234	0.0183	L	0.48362	1.52	0.38848	D	0.956206	P;B;B;B	0.35011	0.48;0.008;0.061;0.057	B;B;B;B	0.28232	0.071;0.004;0.03;0.087	T	0.05435	-1.0885	10	0.66056	D	0.02	-16.7692	15.0102	0.71545	0.0:0.0:1.0:0.0	.	408;968;1000;970	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	S	970;970;830;1000	ENSP00000316092:G970S;ENSP00000394802:G970S;ENSP00000438200:G830S;ENSP00000441000:G1000S	ENSP00000316092:G970S	G	+	1	0	VARS2	31001422	0.622000	0.27085	0.932000	0.37286	0.538000	0.34931	0.754000	0.26390	2.617000	0.88574	0.655000	0.94253	GGC	VARS2	-	superfamily_tRNAsynth_1a_anticodon-bd	ENSG00000137411		0.667	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	HGNC	protein_coding	OTTHUMT00000076566.2		0.00	35	0	G	NM_020442		30893443	+1			no_errors	ENST00000541562	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.981	A
VARS	7407	genome.wustl.edu	37	6	31749717	31749717	+	Missense_Mutation	SNP	G	G	A	rs368988920		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31749717G>A	ENST00000375663.3	-	19	2694	c.2254C>T	c.(2254-2256)Cgg>Tgg	p.R752W	VARS_ENST00000482996.1_5'UTR|VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	752					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACCCAGTACCGCCCATCAGGG	0.627																																																	0								G	TRP/ARG	2,3020		0,2,1509	95.0	111.0	105.0		2254	4.6	0.4	6		105	0,5418		0,0,2709	no	missense	VARS	NM_006295.2	101	0,2,4218	AA,AG,GG		0.0,0.0662,0.0237	probably-damaging	752/1265	31749717	2,8438	1511	2709	4220	SO:0001583	missense	0			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2254C>T	6.37:g.31749717G>A	ENSP00000364815:p.Arg752Trp		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.R752W	ENST00000375663.3	37	c.2254	CCDS34412.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.15|14.15	2.451026|2.451026	0.43531|0.43531	6.62E-4|6.62E-4	0.0|0.0	ENSG00000204394|ENSG00000204394	ENST00000428445|ENST00000375663	.|T	.|0.36520	.|1.25	5.51|5.51	4.63|4.63	0.57726|0.57726	.|Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	.|0.204155	.|0.47852	.|D	.|0.000202	T|T	0.31104|0.31104	0.0786|0.0786	N|N	0.21282|0.21282	0.65|0.65	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.66979	.|0.948	T|T	0.29336|0.29336	-1.0015|-1.0015	5|10	.|0.87932	.|D	.|0	-10.4345|-10.4345	11.3474|11.3474	0.49569|0.49569	0.0:0.0:0.6701:0.3299|0.0:0.0:0.6701:0.3299	.|.	.|752	.|P26640	.|SYVC_HUMAN	V|W	69|752	.|ENSP00000364815:R752W	.|ENSP00000364815:R752W	A|R	-|-	2|1	0|2	VARS|VARS	31857696|31857696	0.997000|0.997000	0.39634|0.39634	0.449000|0.449000	0.26957|0.26957	0.283000|0.283000	0.27025|0.27025	2.363000|2.363000	0.44178|0.44178	1.307000|1.307000	0.44944|0.44944	0.563000|0.563000	0.77884|0.77884	GCG|CGG	VARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase	ENSG00000204394		0.627	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2	-	0.00	31	0	G	NM_006295		31749717	-1	tier1	-	no_errors	ENST00000375663	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.998	A
VASP	7408	genome.wustl.edu	37	19	46025800	46025800	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:46025800C>T	ENST00000245932.6	+	6	1037	c.681C>T	c.(679-681)gcC>gcT	p.A227A		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	227	EVH2 block A.|EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CAGGCCTGGCCGCAGCTATTG	0.697																																																	0													3.0	4.0	3.0					19																	46025800		1715	3772	5487	SO:0001819	synonymous_variant	0				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.681C>T	19.37:g.46025800C>T			B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.R78C	ENST00000245932.6	37	c.232	CCDS33051.1	19																																																																																			VASP	-	smart_WH1/EVH1,pfscan_WH1/EVH1	ENSG00000125753		0.697	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASP	HGNC	protein_coding	OTTHUMT00000459589.1	-	0.00	45	0	C			46025800	+1	tier1	-	no_errors	ENST00000586014	ensembl	human	known	74_37	missense	46.88	16	15	SNP	0.005	T
VAT1L	57687	genome.wustl.edu	37	16	78011528	78011528	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:78011528G>A	ENST00000302536.2	+	9	1349	c.1196G>A	c.(1195-1197)gGg>gAg	p.G399E		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	399							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGTGAAGCAGGGGAAGAGGAG	0.517																																																	0													163.0	119.0	134.0					16																	78011528		2198	4300	6498	SO:0001583	missense	0			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1196G>A	16.37:g.78011528G>A	ENSP00000303129:p.Gly399Glu		Q8IYW8	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.G399E	ENST00000302536.2	37	c.1196	CCDS32492.1	16	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337680	0.81911	.	.	ENSG00000171724	ENST00000302536	T	0.07567	3.18	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.39522	-0.9610	10	0.66056	D	0.02	-5.6221	17.8175	0.88639	0.0:0.0:1.0:0.0	.	399	Q9HCJ6	VAT1L_HUMAN	E	399	ENSP00000303129:G399E	ENSP00000303129:G399E	G	+	2	0	VAT1L	76569029	1.000000	0.71417	0.212000	0.23672	0.918000	0.54935	9.471000	0.97696	2.315000	0.78130	0.561000	0.74099	GGG	VAT1L	-	NULL	ENSG00000171724		0.517	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAT1L	HGNC	protein_coding	OTTHUMT00000434010.1	-	0.00	59	0	G	NM_020927		78011528	+1	tier1	-	no_errors	ENST00000302536	ensembl	human	known	74_37	missense	13.43	58	9	SNP	0.998	A
VAX1	11023	genome.wustl.edu	37	10	118896029	118896029	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:118896029C>T	ENST00000369206.5	-	2	382	c.383G>A	c.(382-384)cGc>cAc	p.R128H	VAX1_ENST00000277905.2_Missense_Mutation_p.R128H	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	128					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GGTCCTCTCGCGGCCCACCAC	0.667																																																	0													38.0	38.0	38.0					10																	118896029		2203	4300	6503	SO:0001583	missense	0			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.383G>A	10.37:g.118896029C>T	ENSP00000358207:p.Arg128His		B1AVW5|Q6ZSX0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.R128H	ENST00000369206.5	37	c.383	CCDS44483.1	10	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298231	0.60195	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.96168	-3.93;-3.93	3.88	2.93	0.34026	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93363	0.7884	N	0.05441	-0.05	0.49213	D	0.999769	D;D	0.76494	0.999;0.998	D;D	0.64595	0.927;0.917	D	0.93471	0.6819	10	0.59425	D	0.04	-3.8859	13.0556	0.58977	0.0:0.8368:0.1632:0.0	.	128;128	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	H	128	ENSP00000277905:R128H;ENSP00000358207:R128H	ENSP00000277905:R128H	R	-	2	0	VAX1	118886019	1.000000	0.71417	0.979000	0.43373	0.968000	0.65278	5.572000	0.67411	0.786000	0.33708	0.455000	0.32223	CGC	VAX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000148704		0.667	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	HGNC	protein_coding	OTTHUMT00000050559.3	-	0.00	102	0	C	XM_301242		118896029	-1	tier1	-	no_errors	ENST00000369206	ensembl	human	known	74_37	missense	36.47	54	31	SNP	1.000	T
VCP	7415	genome.wustl.edu	37	9	35062276	35062276	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:35062276T>C	ENST00000358901.6	-	8	1778	c.883A>G	c.(883-885)Aag>Gag	p.K295E		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	295					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGAGCATTCTTCTCAGCCTCC	0.478																																																	0													130.0	121.0	124.0					9																	35062276		2203	4300	6503	SO:0001583	missense	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.883A>G	9.37:g.35062276T>C	ENSP00000351777:p.Lys295Glu		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.K295E	ENST00000358901.6	37	c.883	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997156	0.54147	.	.	ENSG00000165280	ENST00000358901	D	0.92446	-3.04	6.17	5.04	0.67666	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89326	0.6683	N	0.19112	0.55	0.80722	D	1	P	0.40376	0.715	P	0.49999	0.628	D	0.87094	0.2174	10	0.31617	T	0.26	-35.9207	12.1016	0.53788	0.0:0.0662:0.0:0.9338	.	295	P55072	TERA_HUMAN	E	295	ENSP00000351777:K295E	ENSP00000351777:K295E	K	-	1	0	VCP	35052276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.165000	0.42670	0.533000	0.62120	AAG	VCP	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.478	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	-	0.00	33	0	T	NM_007126		35062276	-1	tier1	-	no_errors	ENST00000358901	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	C
VCP	7415	genome.wustl.edu	37	9	35067909	35067909	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:35067909A>G	ENST00000358901.6	-	3	1176	c.281T>C	c.(280-282)gTa>gCa	p.V94A		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	94					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCTAGGCGTACACGAAGGTT	0.478																																																	0													139.0	111.0	121.0					9																	35067909		2203	4300	6503	SO:0001583	missense	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.281T>C	9.37:g.35067909A>G	ENSP00000351777:p.Val94Ala		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.V94A	ENST00000358901.6	37	c.281	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	A	27.0	4.792178	0.90453	.	.	ENSG00000165280	ENST00000358901;ENST00000448530;ENST00000417448	D;D;D	0.86432	-2.12;-2.12;-2.12	5.73	5.73	0.89815	ATPase, AAA-type, VAT, N-terminal (1);Aspartate decarboxylase-like fold (2);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	M	0.93808	3.46	0.80722	D	1	B	0.22541	0.071	B	0.37422	0.249	D	0.91493	0.5213	10	0.56958	D	0.05	-21.4685	16.0173	0.80450	1.0:0.0:0.0:0.0	.	94	P55072	TERA_HUMAN	A	94;49;49	ENSP00000351777:V94A;ENSP00000392088:V49A;ENSP00000399456:V49A	ENSP00000351777:V94A	V	-	2	0	VCP	35057909	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.194000	0.94962	2.181000	0.69327	0.533000	0.62120	GTA	VCP	-	pfam_CDC4_N-term_subdom,superfamily_Asp_de-COase-like_dom,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.478	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	-	0.00	58	0	A	NM_007126		35067909	-1	tier1	-	no_errors	ENST00000358901	ensembl	human	known	74_37	missense	10.14	62	7	SNP	1.000	G
VDAC1	7416	genome.wustl.edu	37	5	133316708	133316710	+	Intron	DEL	TTT	TTT	-	rs76032174|rs76341281		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:133316708_133316710delTTT	ENST00000265333.3	-	6	568				VDAC1_ENST00000395047.2_Intron|VDAC1_ENST00000395044.3_Intron	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1						anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GCAAGTTGTCTTTTTTTTTTTTT	0.414																																					NSCLC(127;1776 1806 35523 41489 48154)												0																																										SO:0001627	intron_variant	0				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.324-61AAA>-	5.37:g.133316717_133316719delTTT			B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	RNA	DEL	-	NULL	ENST00000265333.3	37	NULL	CCDS4168.1	5																																																																																			VDAC1	-	-	ENSG00000213585		0.414	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1		0.00	28	0	TTT			133316710	-1	tier1		no_errors	ENST00000492324	ensembl	human	known	74_37	rna	20.69	23	6	DEL	0.001:0.000:0.000	-
VEZF1	7716	genome.wustl.edu	37	17	56052100	56052100	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:56052100C>A	ENST00000581208.1	-	6	1340	c.1300G>T	c.(1300-1302)Gtt>Ttt	p.V434F	VEZF1_ENST00000584396.1_Missense_Mutation_p.V425F	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	434	4 X 7 AA repeats of P-[LV]-T-[IL]-T-[ST]- P.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTTATGTTAACTGCACTTGAA	0.453																																																	0													260.0	241.0	247.0					17																	56052100		2203	4300	6503	SO:0001583	missense	0			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1300G>T	17.37:g.56052100C>A	ENSP00000462337:p.Val434Phe			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V434F	ENST00000581208.1	37	c.1300	CCDS32687.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207418	0.79240	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.71290	0.3322	L	0.38175	1.15	0.80722	D	1	D	0.61697	0.99	D	0.67900	0.954	T	0.64664	-0.6354	9	0.25106	T	0.35	-6.586	20.1346	0.98019	0.0:1.0:0.0:0.0	.	434	Q14119	VEZF1_HUMAN	F	434	.	ENSP00000258963:V434F	V	-	1	0	VEZF1	53407099	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.205000	0.77881	2.765000	0.95021	0.655000	0.94253	GTT	VEZF1	-	NULL	ENSG00000136451		0.453	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VEZF1	HGNC	protein_coding	OTTHUMT00000443321.1		0.00	36	0	C			56052100	-1			no_errors	ENST00000581208	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A
VEZT	55591	genome.wustl.edu	37	12	95692928	95692928	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:95692928delT	ENST00000436874.1	+	12	1936				VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Intron	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein						chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GCTGTGGCCATTTTTTTTCTG	0.443																																																	0																																										SO:0001627	intron_variant	0			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1832-1013T>-	12.37:g.95692928delT			Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	RNA	DEL	-	NULL	ENST00000436874.1	37	NULL	CCDS44954.1	12																																																																																			VEZT	-	-	ENSG00000028203		0.443	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2		0.00	77	0	T	NM_017599		95692928	+1	tier1		no_errors	ENST00000356859	ensembl	human	known	74_37	rna	11.43	62	8	DEL	0.979	-
VPRBP	9730	genome.wustl.edu	37	3	51452148	51452148	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:51452148T>C	ENST00000335891.5	-	11	2429	c.2420A>G	c.(2419-2421)gAc>gGc	p.D807G				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1256					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATTGAACTTGTCAAACTTGTG	0.423																																																	0													155.0	146.0	149.0					3																	51452148		1945	4135	6080	SO:0001583	missense	0			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2420A>G	3.37:g.51452148T>C	ENSP00000338857:p.Asp807Gly		Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D807G	ENST00000335891.5	37	c.2420		3	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774476	0.90108	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.01369	4.97;4.97	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.10852	0.0265	M	0.86864	2.845	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.00221	-1.1905	10	0.87932	D	0	-19.8083	16.1041	0.81209	0.0:0.0:0.0:1.0	.	1256	Q9Y4B6	VPRBP_HUMAN	G	827;807	ENSP00000393183:D827G;ENSP00000338857:D807G	ENSP00000338857:D807G	D	-	2	0	VPRBP	51427188	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.638000	0.83328	2.216000	0.71823	0.454000	0.30748	GAC	VPRBP	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold	ENSG00000145041		0.423	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		-	0.00	40	0	T	NM_014703		51452148	-1	tier1	-	no_errors	ENST00000335891	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	C
VPS13C	54832	genome.wustl.edu	37	15	62165519	62165519	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:62165519delT	ENST00000261517.5	-	78	10577	c.10504delA	c.(10504-10506)agafs	p.R3503fs	VPS13C_ENST00000395898.3_Frame_Shift_Del_p.R3460fs|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.R3503fs|VPS13C_ENST00000249837.3_Frame_Shift_Del_p.R3460fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTCTCTTCTTTTTTGCTGA	0.458																																																	0													221.0	212.0	215.0					15																	62165519		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10504delA	15.37:g.62165519delT	ENSP00000261517:p.Arg3503fs			Frame_Shift_Del	DEL	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.R3502fs	ENST00000261517.5	37	c.10504	CCDS32257.1	15																																																																																			VPS13C	-	NULL	ENSG00000129003		0.458	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0.00	62	0	T	NM_017684		62165519	-1	tier1		no_errors	ENST00000261517	ensembl	human	known	74_37	frame_shift_del	9.21	69	7	DEL	1.000	-
VPS13C	54832	genome.wustl.edu	37	15	62316019	62316019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:62316019delT	ENST00000261517.5	-	7	547	c.474delA	c.(472-474)aaafs	p.K158fs	VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.K158fs|VPS13C_ENST00000249837.3_Intron	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTAAAATGTTTTTTGTGCT	0.333																																																	0													124.0	122.0	123.0					15																	62316019		2203	4299	6502	SO:0001589	frameshift_variant	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.474delA	15.37:g.62316019delT	ENSP00000261517:p.Lys158fs			Frame_Shift_Del	DEL	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.K158fs	ENST00000261517.5	37	c.474	CCDS32257.1	15																																																																																			VPS13C	-	NULL	ENSG00000129003		0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0.00	40	0	T	NM_017684		62316019	-1			no_errors	ENST00000261517	ensembl	human	known	74_37	frame_shift_del	15.52	49	9	DEL	1.000	0
VPS26B	112936	genome.wustl.edu	37	11	134109963	134109963	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:134109963C>T	ENST00000281187.5	+	3	937	c.459C>T	c.(457-459)agC>agT	p.S153S	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.S153S	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	153					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACACACTCAGCACATACCCAG	0.453																																					Colon(171;1263 1952 15904 45703 47982)												0													190.0	159.0	170.0					11																	134109963		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.459C>T	11.37:g.134109963C>T			Q96A55	Silent	SNP	pfam_VPS26,superfamily_Ig_E-set	p.S153	ENST00000281187.5	37	c.459	CCDS8495.1	11																																																																																			VPS26B	-	pfam_VPS26,superfamily_Ig_E-set	ENSG00000151502		0.453	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26B	HGNC	protein_coding	OTTHUMT00000393591.1	-	0.00	67	0	C	NM_052875		134109963	+1	tier1	-	no_errors	ENST00000281187	ensembl	human	known	74_37	silent	11.76	45	6	SNP	1.000	T
VPS36	51028	genome.wustl.edu	37	13	53000038	53000038	+	Intron	DEL	A	A	-	rs200170312		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:53000038delA	ENST00000378060.4	-	9	802					NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)						endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AACACAGTTTAAAAAAAAACA	0.353																																																	0													60.0	60.0	60.0					13																	53000038		2203	4300	6503	SO:0001627	intron_variant	0			AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.774+28T>-	13.37:g.53000038delA			A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	RNA	DEL	-	NULL	ENST00000378060.4	37	NULL	CCDS9434.1	13																																																																																			VPS36	-	-	ENSG00000136100		0.353	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS36	HGNC	protein_coding	OTTHUMT00000045059.3		0.00	57	0	A			53000038	-1	tier1		no_errors	ENST00000492650	ensembl	human	known	74_37	rna	31.82	45	21	DEL	0.000	-
VPS45	11311	genome.wustl.edu	37	1	150049819	150049819	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:150049819G>T	ENST00000369130.3	+	7	1195	c.649G>T	c.(649-651)Gat>Tat	p.D217Y	VPS45_ENST00000369128.5_Missense_Mutation_p.D112Y|VPS45_ENST00000535106.1_Missense_Mutation_p.D148Y	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	217					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTATTTTAGATCGCTGTGA	0.388																																																	0													150.0	136.0	141.0					1																	150049819		2203	4300	6503	SO:0001583	missense	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.649G>T	1.37:g.150049819G>T	ENSP00000358126:p.Asp217Tyr		D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.D217Y	ENST00000369130.3	37	c.649	CCDS944.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716427	0.89205	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000543996;ENST00000535106;ENST00000419023	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	H	0.95043	3.615	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999	D	0.98389	1.0562	10	0.87932	D	0	.	19.2318	0.93843	0.0:0.0:1.0:0.0	.	112;181;217;37;217	F5H8K1;B7Z7G7;Q53FR8;A0AR27;Q9NRW7	.;.;.;.;VPS45_HUMAN	Y	217;112;92;148;148	ENSP00000358126:D217Y;ENSP00000358124:D112Y;ENSP00000440690:D148Y;ENSP00000400143:D148Y	ENSP00000358124:D112Y	D	+	1	0	VPS45	148316443	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.478000	0.97927	2.865000	0.98341	0.655000	0.94253	GAT	VPS45	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136631		0.388	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	-	0.00	45	0	G	NM_007259		150049819	+1	tier1	-	no_errors	ENST00000369130	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	T
VPS4A	27183	genome.wustl.edu	37	16	69353432	69353432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:69353432delG	ENST00000254950.11	+	6	762	c.606delG	c.(604-606)ctgfs	p.L202fs	RP11-343C2.11_ENST00000570054.2_Frame_Shift_Del_p.L226fs|COG8_ENST00000564419.1_5'Flank	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				CCAAGTGGCTGGGGGAGAGTG	0.597																																																	0													33.0	36.0	35.0					16																	69353432		2082	4222	6304	SO:0001589	frameshift_variant	0			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.606delG	16.37:g.69353432delG	ENSP00000254950:p.Leu202fs			Frame_Shift_Del	DEL	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.E204fs	ENST00000254950.11	37	c.606	CCDS45517.1	16																																																																																			VPS4A	-	pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000132612		0.597	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3		0.00	32	0	G	NM_013245		69353432	+1	tier1		no_errors	ENST00000254950	ensembl	human	known	74_37	frame_shift_del	11.43	31	4	DEL	1.000	-
VPS4A	27183	genome.wustl.edu	37	16	69355062	69355062	+	Silent	SNP	C	C	T	rs369039396	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:69355062C>T	ENST00000254950.11	+	9	1116	c.960C>T	c.(958-960)caC>caT	p.H320H	VPS4A_ENST00000564399.1_3'UTR|COG8_ENST00000564419.1_Intron	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				CAAACATCCACGAGCTGGCCC	0.612													C|||	12	0.00239617	0.0076	0.0014	5008	,	,		17726	0.0		0.001	False		,,,				2504	0.0																0								C		35,4325		0,35,2145	22.0	26.0	24.0		960	-11.0	0.1	16		24	0,8570		0,0,4285	no	coding-synonymous	VPS4A	NM_013245.2		0,35,6430	TT,TC,CC		0.0,0.8028,0.2707		320/438	69355062	35,12895	2180	4285	6465	SO:0001819	synonymous_variant	0			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.960C>T	16.37:g.69355062C>T				Silent	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.H320	ENST00000254950.11	37	c.960	CCDS45517.1	16																																																																																			VPS4A	-	superfamily_P-loop_NTPase	ENSG00000132612		0.612	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3	-	0.00	66	0	C	NM_013245		69355062	+1	tier1	-	no_errors	ENST00000254950	ensembl	human	known	74_37	silent	24.56	43	14	SNP	0.006	T
VPS72	6944	genome.wustl.edu	37	1	151149461	151149461	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:151149461T>A	ENST00000354473.4	-	6	823	c.787A>T	c.(787-789)Act>Tct	p.T263S	TMOD4_ENST00000601585.1_5'Flank|TMOD4_ENST00000416280.2_5'Flank|VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	252					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACGGGTCCAGTCCCAGCATGA	0.527																																					Pancreas(109;1131 2287 3209 24201)												0													31.0	35.0	34.0					1																	151149461		2202	4300	6502	SO:0001583	missense	0			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.787A>T	1.37:g.151149461T>A	ENSP00000346464:p.Thr263Ser		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	pfam_YL1,pfam_YL1_C	p.T252S	ENST00000354473.4	37	c.754	CCDS59201.1	1	.	.	.	.	.	.	.	.	.	.	.	6.745	0.506177	0.12883	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.41	3.04	0.35103	.	0.166125	0.53938	D	0.000044	T	0.04815	0.0130	N	0.14661	0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.41270	-0.9518	9	0.05436	T	0.98	1.269	6.7962	0.23727	0.0:0.0805:0.3614:0.558	.	252	Q15906	VPS72_HUMAN	S	252;263	.	ENSP00000346464:T263S	T	-	1	0	VPS72	149416085	0.380000	0.25131	0.023000	0.16930	0.019000	0.09904	0.546000	0.23284	1.059000	0.40554	-0.429000	0.05907	ACT	VPS72	-	NULL	ENSG00000163159		0.527	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3	-	0.00	47	0	T	NM_005997		151149461	-1	tier1	-	no_errors	ENST00000368892	ensembl	human	known	74_37	missense	17.50	31	7	SNP	0.116	A
VPS8	23355	genome.wustl.edu	37	3	184675241	184675241	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:184675241T>C	ENST00000437079.3	+	37	3286	c.3115T>C	c.(3115-3117)Ttc>Ctc	p.F1039L	VPS8_ENST00000446204.2_Missense_Mutation_p.F947L|VPS8_ENST00000287546.4_Missense_Mutation_p.F1039L|VPS8_ENST00000436792.2_Missense_Mutation_p.F1037L	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1039							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTTGTGTCAGTTCAACCCAAC	0.383																																																	0													86.0	81.0	83.0					3																	184675241		1890	4116	6006	SO:0001583	missense	0			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3115T>C	3.37:g.184675241T>C	ENSP00000397879:p.Phe1039Leu		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1039L	ENST00000437079.3	37	c.3115	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776405	0.49786	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.20332	2.11;2.11;2.11;2.08	5.46	5.46	0.80206	Quinonprotein alcohol dehydrogenase-like (1);	0.225392	0.47455	D	0.000232	T	0.18299	0.0439	L	0.40543	1.245	0.42198	D	0.991756	B;B;P	0.35575	0.22;0.104;0.51	B;B;B	0.36666	0.086;0.135;0.23	T	0.06267	-1.0836	10	0.15952	T	0.53	-22.2172	13.0732	0.59074	0.0:0.0:0.0:1.0	.	1039;947;1037	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	L	1039;1039;1037;947	ENSP00000287546:F1039L;ENSP00000397879:F1039L;ENSP00000404704:F1037L;ENSP00000405483:F947L	ENSP00000287546:F1039L	F	+	1	0	VPS8	186157935	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.134000	0.42102	2.062000	0.61559	0.533000	0.62120	TTC	VPS8	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000156931		0.383	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		-	0.00	52	0	T	NM_015303		184675241	+1	tier1	-	no_errors	ENST00000287546	ensembl	human	known	74_37	missense	12.24	43	6	SNP	1.000	C
VWA2	340706	genome.wustl.edu	37	10	116013454	116013454	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:116013454A>G	ENST00000392982.3	+	3	347	c.97A>G	c.(97-99)Acc>Gcc	p.T33A	VWA2_ENST00000603594.1_Missense_Mutation_p.T33A			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	33					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AAGCAAAGAAACCATCGGGAA	0.512																																																	0													163.0	176.0	172.0					10																	116013454		2202	4299	6501	SO:0001583	missense	0			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.97A>G	10.37:g.116013454A>G	ENSP00000376708:p.Thr33Ala		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.T33A	ENST00000392982.3	37	c.97		10	.	.	.	.	.	.	.	.	.	.	A	13.98	2.400074	0.42613	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.68025	-0.3	4.86	4.86	0.63082	.	0.131175	0.51477	D	0.000086	T	0.61813	0.2377	M	0.65498	2.005	0.26790	N	0.969429	P;P	0.46142	0.682;0.873	B;B	0.44044	0.188;0.439	T	0.58973	-0.7541	10	0.02654	T	1	.	11.9899	0.53169	1.0:0.0:0.0:0.0	.	33;33	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	A	33	ENSP00000376708:T33A	ENSP00000298715:T33A	T	+	1	0	VWA2	116003444	1.000000	0.71417	0.708000	0.30435	0.016000	0.09150	5.629000	0.67798	1.835000	0.53391	0.523000	0.50628	ACC	VWA2	-	NULL	ENSG00000165816		0.512	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	-	0.00	70	0	A	NM_198496		116013454	+1	tier1	-	no_errors	ENST00000392982	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	G
VWA5A	4013	genome.wustl.edu	37	11	123994433	123994433	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:123994433C>T	ENST00000456829.2	+	10	1337	c.1086C>T	c.(1084-1086)gcC>gcT	p.A362A	VWA5A_ENST00000392744.4_Silent_p.A378A|VWA5A_ENST00000392748.1_Silent_p.A362A|VWA5A_ENST00000360334.4_Silent_p.A362A|VWA5A_ENST00000449321.1_Silent_p.A362A|VWA5A_ENST00000361352.5_Silent_p.A362A	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	362	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TTATGCAGGCCGACCTAGGGG	0.527																																																	0													72.0	71.0	72.0					11																	123994433		2201	4299	6500	SO:0001819	synonymous_variant	0			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1086C>T	11.37:g.123994433C>T			Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.A362	ENST00000456829.2	37	c.1086	CCDS8444.1	11																																																																																			VWA5A	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000110002		0.527	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	HGNC	protein_coding	OTTHUMT00000387273.1	-	0.00	58	0	C	NM_014622		123994433	+1	tier1	-	no_errors	ENST00000392748	ensembl	human	known	74_37	silent	17.46	52	11	SNP	0.052	T
VWA7	80737	genome.wustl.edu	37	6	31743902	31743902	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31743902G>A	ENST00000375688.4	-	3	552	c.352C>T	c.(352-354)Cca>Tca	p.P118S	VWA7_ENST00000467576.1_Intron|VWA7_ENST00000447450.1_Missense_Mutation_p.P118S|VWA7_ENST00000375686.3_Missense_Mutation_p.P118S|Y_RNA_ENST00000364685.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	118						extracellular region (GO:0005576)											CTGGAAGTTGGCAGGAAGTCC	0.622																																																	0													107.0	101.0	103.0					6																	31743902		2203	4300	6503	SO:0001583	missense	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.352C>T	6.37:g.31743902G>A	ENSP00000364840:p.Pro118Ser		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	NULL	p.P118S	ENST00000375688.4	37	c.352	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	G	3.011	-0.203826	0.06180	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.12774	2.65;2.65;2.65	5.53	3.36	0.38483	.	0.532999	0.18965	N	0.126286	T	0.01523	0.0049	N	0.15975	0.35	0.23101	N	0.998292	B	0.12630	0.006	B	0.12837	0.008	T	0.46386	-0.9195	10	0.06891	T	0.86	-2.7841	4.4064	0.11411	0.0936:0.1557:0.5908:0.16	.	118	Q9Y334	G7C_HUMAN	S	118	ENSP00000364840:P118S;ENSP00000364838:P118S;ENSP00000390554:P118S	ENSP00000364838:P118S	P	-	1	0	C6orf27	31851881	1.000000	0.71417	0.977000	0.42913	0.349000	0.29174	2.247000	0.43151	1.298000	0.44778	0.650000	0.86243	CCA	VWA7	-	NULL	ENSG00000204396		0.622	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	-	0.00	46	0	G	NM_025258		31743902	-1	tier1	-	no_errors	ENST00000375686	ensembl	human	known	74_37	missense	20.00	44	11	SNP	0.611	A
WARS2	10352	genome.wustl.edu	37	1	119575742	119575742	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:119575742C>A	ENST00000235521.4	-	6	901	c.875G>T	c.(874-876)cGc>cTc	p.R292L	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.R198L	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	292					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CGCGCTGCGGCGCACCACTTC	0.602																																																	0													70.0	71.0	71.0					1																	119575742		2203	4300	6503	SO:0001583	missense	0			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.875G>T	1.37:g.119575742C>A	ENSP00000235521:p.Arg292Leu		B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase	p.R292L	ENST00000235521.4	37	c.875	CCDS900.1	1	.	.	.	.	.	.	.	.	.	.	C	7.542	0.660932	0.14645	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.51071	0.72;0.72	5.87	1.93	0.25924	.	0.586898	0.19837	N	0.104953	T	0.19565	0.0470	L	0.28649	0.875	0.21984	N	0.999437	B;B	0.25390	0.125;0.023	B;B	0.35727	0.209;0.049	T	0.29822	-0.9999	10	0.37606	T	0.19	-2.862	9.9293	0.41512	0.0:0.6068:0.0:0.3932	.	235;292	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	L	292;198	ENSP00000235521:R292L;ENSP00000438807:R198L	ENSP00000235521:R292L	R	-	2	0	WARS2	119377265	0.000000	0.05858	0.180000	0.23079	0.005000	0.04900	0.027000	0.13621	0.411000	0.25702	-0.136000	0.14681	CGC	WARS2	-	pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase	ENSG00000116874		0.602	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WARS2	HGNC	protein_coding	OTTHUMT00000034362.1		0.00	40	0	C	NM_015836		119575742	-1			no_errors	ENST00000235521	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.379	A
WASF1	8936	genome.wustl.edu	37	6	110426610	110426610	+	Splice_Site	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:110426610C>T	ENST00000392589.1	-	8	1549	c.713G>A	c.(712-714)aGa>aAa	p.R238K	WASF1_ENST00000392586.1_Splice_Site_p.R238K|WASF1_ENST00000392588.1_Splice_Site_p.R238K|WASF1_ENST00000359451.2_Splice_Site_p.R238K|WASF1_ENST00000392587.2_Splice_Site_p.R238K	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	238					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTAAAGAAACCTTGTTTCAAA	0.373																																																	0													36.0	35.0	35.0					6																	110426610		2203	4300	6503	SO:0001630	splice_region_variant	0			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.713+1G>A	6.37:g.110426610C>T			E1P5F2|Q5SZK7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R238K	ENST00000392589.1	37	c.713	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853136	0.51270	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.39	5.39	0.77823	.	0.094275	0.64402	D	0.000001	T	0.16642	0.0400	N	0.24115	0.695	0.54753	D	0.999988	B	0.30193	0.272	B	0.18871	0.023	T	0.04281	-1.0963	9	.	.	.	.	19.1608	0.93531	0.0:1.0:0.0:0.0	.	238	Q92558	WASF1_HUMAN	K	238	ENSP00000376365:R238K;ENSP00000376366:R238K;ENSP00000376368:R238K;ENSP00000376367:R238K;ENSP00000352425:R238K	.	R	-	2	0	WASF1	110533303	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.569000	0.73992	2.509000	0.84616	0.591000	0.81541	AGA	WASF1	-	NULL	ENSG00000112290		0.373	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3		0.00	23	0	C	NM_003931	Missense_Mutation	110426610	-1			no_errors	ENST00000359451	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	T
WASIR1	100128260	genome.wustl.edu	37	X	155246390	155246390	+	RNA	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:155246390C>T	ENST00000399966.4	-	0	112									WASH and IL9R antisense RNA 1																		TCACCGCGGACGCCGccccag	0.677																																																	0																																												0			AJ271736		Xq28 and Yq12	2012-10-12	2012-08-15	2011-04-28	ENSG00000185203	ENSG00000185203		"""Pseudoautosomal regions / PAR2"", ""Long non-coding RNAs"""	38513	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 286B"", ""WASH and IL9R antisense RNA 1 (non-protein coding)"""	NCRNA00286B			Standard			Approved				OTTHUMG00000022676		X.37:g.155246390C>T				RNA	SNP	-	NULL	ENST00000399966.4	37	NULL		X																																																																																			WASIR1	-	-	ENSG00000185203		0.677	WASIR1-001	KNOWN	not_best_in_genome_evidence|basic	antisense	WASIR1	HGNC	antisense	OTTHUMT00000058824.3	-	0.00	39	0	C			155246390	-1	tier1	-	no_errors	ENST00000399966	ensembl	human	known	74_37	rna	46.43	15	13	SNP	0.001	T
WASL	8976	genome.wustl.edu	37	7	123332485	123332485	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:123332485delT	ENST00000223023.4	-	9	1595	c.1263delA	c.(1261-1263)aaafs	p.K421fs		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	421	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGCTCCACTTTTTTTAGCT	0.473																																																	0													77.0	74.0	75.0					7																	123332485		2203	4300	6503	SO:0001589	frameshift_variant	0			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1263delA	7.37:g.123332485delT	ENSP00000223023:p.Lys421fs		A1JUI9|Q7Z746	Frame_Shift_Del	DEL	pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom	p.V422fs	ENST00000223023.4	37	c.1263	CCDS34743.1	7																																																																																			WASL	-	pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom	ENSG00000106299		0.473	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1		0.00	63	0	T	NM_003941		123332485	-1	tier1		no_errors	ENST00000223023	ensembl	human	known	74_37	frame_shift_del	15.15	56	10	DEL	1.000	-
WBSCR17	64409	genome.wustl.edu	37	7	71135007	71135007	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:71135007A>G	ENST00000333538.5	+	8	1951	c.1317A>G	c.(1315-1317)aaA>aaG	p.K439K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	439					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATTAAGGAAAAGTTTAAAGT	0.453																																																	0													132.0	132.0	132.0					7																	71135007		2203	4300	6503	SO:0001819	synonymous_variant	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1317A>G	7.37:g.71135007A>G			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K439	ENST00000333538.5	37	c.1317	CCDS5540.1	7																																																																																			WBSCR17	-	NULL	ENSG00000185274		0.453	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0.00	64	0	A	NM_022479		71135007	+1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	G
WDFY2	115825	genome.wustl.edu	37	13	52158844	52158845	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:52158844_52158845insA	ENST00000298125.5	+	1	201_202	c.21_22insA	c.(22-24)aagfs	p.K8fs	RNY1P6_ENST00000384193.1_RNA	NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	8							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGATCCAGCCCAAGCCTCTGAC	0.708																																																	0																																										SO:0001589	frameshift_variant	0			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.23dupA	13.37:g.52158846_52158846dupA	ENSP00000298125:p.Lys8fs		B1AL86|Q96CS1	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P8fs	ENST00000298125.5	37	c.21_22	CCDS9429.1	13																																																																																			WDFY2	-	NULL	ENSG00000139668		0.708	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY2	HGNC	protein_coding	OTTHUMT00000045985.3		0.00	67	0	-	NM_052950		52158845	+1	tier1		no_errors	ENST00000298125	ensembl	human	known	74_37	frame_shift_ins	22.73	51	15	INS	1.000:1.000	A
WDFY3	23001	genome.wustl.edu	37	4	85781626	85781626	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:85781626C>T	ENST00000295888.4	-	4	526	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R40Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	40					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R40Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTCATGTGCCGGGGAGGATG	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											139.0	128.0	132.0					4																	85781626		2203	4300	6503	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.119G>A	4.37:g.85781626C>T	ENSP00000295888:p.Arg40Gln		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R40Q	ENST00000295888.4	37	c.119	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158851	0.57368	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000509172	T;T	0.62788	-0.0;-0.0	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	N	0.01352	-0.895	0.80722	D	1	B;B	0.29552	0.248;0.248	B;B	0.12837	0.008;0.008	T	0.36866	-0.9730	10	0.15952	T	0.53	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	40;40	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	Q	40	ENSP00000318466:R40Q;ENSP00000295888:R40Q	ENSP00000295888:R40Q	R	-	2	0	WDFY3	86000650	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.591000	0.82666	2.691000	0.91804	0.655000	0.94253	CGG	WDFY3	-	NULL	ENSG00000163625		0.567	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2		0.00	38	0	C	NM_014991		85781626	-1			no_errors	ENST00000295888	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
WDFY4	57705	genome.wustl.edu	37	10	50185013	50185013	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:50185013G>A	ENST00000325239.5	+	58	9307	c.9280G>A	c.(9280-9282)Ggc>Agc	p.G3094S	WDFY4_ENST00000465910.1_3'UTR|WDFY4_ENST00000413659.2_3'UTR|RP11-523O18.5_ENST00000428825.4_RNA	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	3094						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GAGTCAAGACGGCATGGTCCG	0.572																																																	0													100.0	95.0	97.0					10																	50185013		692	1591	2283	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.9280G>A	10.37:g.50185013G>A	ENSP00000320563:p.Gly3094Ser		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G3094S	ENST00000325239.5	37	c.9280	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.031751|5.031751	0.93575|0.93575	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000426033;ENST00000325239;ENST00000544136|ENST00000312002	T|.	0.64618|.	-0.11|.	4.74|4.74	4.74|4.74	0.60224|0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.063313|.	0.64402|.	D|.	0.000006|.	T|T	0.75722|0.75722	0.3888|0.3888	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.76176|0.76176	-0.3055|-0.3055	9|5	.|.	.|.	.|.	.|.	17.2451|17.2451	0.87026|0.87026	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3094|.	Q6ZS81|.	WDFY4_HUMAN|.	S|Q	3094;3094;557|2184	ENSP00000320563:G3094S|.	.|.	G|R	+|+	1|2	0|0	WDFY4|WDFY4	49855019|49855019	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.878000|0.878000	0.50629|0.50629	9.171000|9.171000	0.94802|0.94802	2.608000|2.608000	0.88229|0.88229	0.563000|0.563000	0.77884|0.77884	GGC|CGG	WDFY4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000128815		0.572	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding			0.00	18	0	G	XM_033379		50185013	+1			no_errors	ENST00000325239	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	A
WDR35	57539	genome.wustl.edu	37	2	20137695	20137695	+	Silent	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:20137695A>C	ENST00000345530.3	-	20	2224	c.2109T>G	c.(2107-2109)gcT>gcG	p.A703A	WDR35_ENST00000281405.4_Silent_p.A692A|WDR35_ENST00000416055.2_Silent_p.A268A	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	703					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTGCTTCAGCCAGTAGGC	0.378																																																	0													72.0	74.0	73.0					2																	20137695		2203	4299	6502	SO:0001819	synonymous_variant	0			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2109T>G	2.37:g.20137695A>C			B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A703	ENST00000345530.3	37	c.2109	CCDS33152.1	2																																																																																			WDR35	-	pirsf_WD_repeat_p35	ENSG00000118965		0.378	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2		0.00	35	0	A	NM_020779		20137695	-1			no_errors	ENST00000345530	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.983	C
WDPCP	51057	genome.wustl.edu	37	2	63631702	63631702	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:63631702C>T	ENST00000272321.7	-	10	1443	c.916G>A	c.(916-918)Gta>Ata	p.V306I	WDPCP_ENST00000409120.1_Missense_Mutation_p.V114I|WDPCP_ENST00000409199.1_Missense_Mutation_p.V114I|WDPCP_ENST00000409562.3_Missense_Mutation_p.V306I|WDPCP_ENST00000398544.3_Missense_Mutation_p.V147I|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	306					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCTACACTTACGGAGTGCTCC	0.468																																																	0													95.0	87.0	89.0					2																	63631702		1977	4159	6136	SO:0001583	missense	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.916G>A	2.37:g.63631702C>T	ENSP00000272321:p.Val306Ile		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.V306I	ENST00000272321.7	37	c.916	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	C	4.819	0.152185	0.09185	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.44	-1.86	0.07760	.	0.691675	0.14880	N	0.293012	T	0.11452	0.0279	N	0.01352	-0.895	0.20873	N	0.999832	B;B;B;B	0.16396	0.004;0.0;0.017;0.004	B;B;B;B	0.14578	0.003;0.0;0.011;0.001	T	0.30297	-0.9983	10	0.13470	T	0.59	1.2834	4.9829	0.14175	0.2953:0.3349:0.0:0.3698	.	114;306;306;147	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	I	306;114;114;147;306	ENSP00000272321:V306I;ENSP00000386592:V114I;ENSP00000386769:V114I;ENSP00000381552:V147I;ENSP00000387222:V306I	ENSP00000272321:V306I	V	-	1	0	WDPCP	63485206	0.219000	0.23619	0.683000	0.30040	0.776000	0.43924	-0.407000	0.07178	-0.476000	0.06842	-0.383000	0.06682	GTA	WDPCP	-	pfam_DUF3312	ENSG00000143951		0.468	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	-	0.00	48	0	C	NM_015910		63631702	-1	tier1	-	no_errors	ENST00000272321	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.612	T
WDR4	10785	genome.wustl.edu	37	21	44275838	44275838	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:44275838C>T	ENST00000398208.2	-	7	739	c.680G>A	c.(679-681)tGt>tAt	p.C227Y	WDR4_ENST00000330317.2_Missense_Mutation_p.C227Y|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GGCCAGGTGACAGCAGTGCAG	0.627																																																	0													13.0	14.0	14.0					21																	44275838		2166	4232	6398	SO:0001583	missense	0			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.680G>A	21.37:g.44275838C>T	ENSP00000381266:p.Cys227Tyr			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C227Y	ENST00000398208.2	37	c.680	CCDS13691.1	21	.	.	.	.	.	.	.	.	.	.	C	5.436	0.265569	0.10294	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.27557	1.66;1.66	4.04	4.04	0.47022	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.064498	0.64402	D	0.000002	T	0.26484	0.0647	M	0.64997	1.995	0.42695	D	0.993598	B;B	0.23806	0.091;0.03	B;B	0.19666	0.026;0.011	T	0.06197	-1.0840	10	0.17369	T	0.5	-17.0671	8.1113	0.30916	0.0:0.8857:0.0:0.1143	.	227;227	P57081-2;P57081	.;WDR4_HUMAN	Y	227	ENSP00000328671:C227Y;ENSP00000381266:C227Y	ENSP00000328671:C227Y	C	-	2	0	WDR4	43148907	1.000000	0.71417	0.991000	0.47740	0.592000	0.36648	1.561000	0.36342	1.969000	0.57287	0.411000	0.27672	TGT	WDR4	-	superfamily_WD40_repeat_dom	ENSG00000160193		0.627	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR4	HGNC	protein_coding	OTTHUMT00000195479.1	-	0.00	108	0	C			44275838	-1	tier1	-	no_errors	ENST00000330317	ensembl	human	known	74_37	missense	12.50	70	10	SNP	1.000	T
WDR87	83889	genome.wustl.edu	37	19	38379432	38379433	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:38379432_38379433insT	ENST00000303868.5	-	6	4985_4986	c.4761_4762insA	c.(4759-4764)aaacgafs	p.R1588fs	WDR87_ENST00000447313.2_Frame_Shift_Ins_p.R1627fs	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1588	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TCTTGGGCTCGTTTTTTTTCAG	0.47																																																	0																																										SO:0001589	frameshift_variant	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.4762dupA	19.37:g.38379440_38379440dupT	ENSP00000368025:p.Arg1588fs		Q9BWV9	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1626fs	ENST00000303868.5	37	c.4879_4878	CCDS46063.1	19																																																																																			WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.470	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2		0.00	120	0	-	XM_940478		38379433	-1	tier1		no_errors	ENST00000447313	ensembl	human	known	74_37	frame_shift_ins	13.28	111	17	INS	0.000:0.000	T
WDR88	126248	genome.wustl.edu	37	19	33623177	33623177	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:33623177C>A	ENST00000355868.3	+	1	178	c.102C>A	c.(100-102)tcC>tcA	p.S34S	WDR88_ENST00000361680.2_Silent_p.S34S|WDR88_ENST00000592765.1_Silent_p.S34S	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	34										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GCAAGCTGTCCTGGGGGACCA	0.692																																																	0													60.0	58.0	59.0					19																	33623177		2203	4300	6503	SO:0001819	synonymous_variant	0			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.102C>A	19.37:g.33623177C>A			Q8NEF8	Silent	SNP	pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S34	ENST00000355868.3	37	c.102	CCDS12429.1	19																																																																																			WDR88	-	NULL	ENSG00000166359		0.692	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR88	HGNC	protein_coding	OTTHUMT00000450840.1	-	0.00	138	0	C	NM_173479		33623177	+1	tier1	-	no_errors	ENST00000355868	ensembl	human	known	74_37	silent	12.07	102	14	SNP	0.001	A
WHAMMP3	339005	genome.wustl.edu	37	15	23198619	23198619	+	RNA	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:23198619T>C	ENST00000400153.2	-	0	1349					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		CATAAAATTGTATTGCTAATT	0.244																																																	0																																												0			BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23198619T>C			Q1A5X8|Q52M16|Q52M18	RNA	SNP	-	NULL	ENST00000400153.2	37	NULL		15																																																																																			WHAMMP3	-	-	ENSG00000187667		0.244	WHAMMP3-001	KNOWN	basic	processed_transcript	WHAMMP3	HGNC	pseudogene	OTTHUMT00000415907.1	-	0.00	177	0	T	NR_003521		23198619	-1	tier1	-	no_errors	ENST00000400153	ensembl	human	known	74_37	rna	13.07	132	20	SNP	1.000	C
WHSC1L1	54904	genome.wustl.edu	37	8	38175370	38175370	+	Intron	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:38175370A>G	ENST00000317025.8	-	9	2373				WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000316985.3_3'UTR|WHSC1L1_ENST00000433384.2_Intron	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGATTGGCGAAATCAAAATCG	0.373			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0																																										SO:0001627	intron_variant	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1855+1042T>C	8.37:g.38175370A>G			B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	RNA	SNP	-	NULL	ENST00000317025.8	37	NULL	CCDS43729.1	8																																																																																			WHSC1L1	-	-	ENSG00000147548		0.373	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	-	0.00	30	0	A	NM_023034		38175370	-1	tier1	-	no_errors	ENST00000525081	ensembl	human	known	74_37	rna	24.32	28	9	SNP	1.000	G
ARSG	22901	genome.wustl.edu	37	17	66417879	66417879	+	3'UTR	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:66417879delG	ENST00000448504.2	+	0	3649				WIPI1_ENST00000262139.5_3'UTR|WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_3'UTR|RP11-120M18.2_ENST00000592030.1_RNA|MIR635_ENST00000384830.1_RNA	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACCTGATAGGGGGGATGTC	0.483																																																	0													158.0	132.0	141.0					17																	66417879		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.*1275G>-	17.37:g.66417879delG			Q6UXF2|Q9Y2K4	RNA	DEL	-	NULL	ENST00000448504.2	37	NULL	CCDS11676.1	17																																																																																			WIPI1	-	-	ENSG00000070540		0.483	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPI1	HGNC	protein_coding	OTTHUMT00000448369.1		0.00	38	0	G	NM_014960		66417879	-1	tier1		no_errors	ENST00000589459	ensembl	human	known	74_37	rna	17.39	19	4	DEL	0.005	-
WIPI1	55062	genome.wustl.edu	37	17	66425048	66425048	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:66425048G>A	ENST00000262139.5	-	10	994	c.995C>T	c.(994-996)gCg>gTg	p.A332V	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.A250V|RP11-120M18.2_ENST00000592030.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	332					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACTGGATGACGCAACTAGCAG	0.458																																																	0													93.0	75.0	81.0					17																	66425048		2203	4300	6503	SO:0001583	missense	0				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.995C>T	17.37:g.66425048G>A	ENSP00000262139:p.Ala332Val		Q8IXM5|Q9NWF8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.A332V	ENST00000262139.5	37	c.995	CCDS11677.1	17	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690742	0.48097	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.54279	0.58;2.17	5.33	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.217883	0.48286	D	0.000186	T	0.36880	0.0983	L	0.31157	0.91	0.23180	N	0.998168	B	0.26147	0.143	B	0.27608	0.081	T	0.16928	-1.0386	10	0.12430	T	0.62	-10.6268	11.958	0.52993	0.1781:0.0:0.8219:0.0	.	332	Q5MNZ9	WIPI1_HUMAN	V	332;250	ENSP00000262139:A332V;ENSP00000437345:A250V	ENSP00000262139:A332V	A	-	2	0	WIPI1	63936643	1.000000	0.71417	0.008000	0.14137	0.037000	0.13140	5.917000	0.69989	1.139000	0.42245	0.557000	0.71058	GCG	WIPI1	-	superfamily_WD40_repeat_dom	ENSG00000070540		0.458	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPI1	HGNC	protein_coding	OTTHUMT00000448739.1	-	0.00	25	0	G	NM_017983		66425048	-1	tier1	-	no_errors	ENST00000262139	ensembl	human	known	74_37	missense	64.29	10	18	SNP	0.050	A
WISP1	8840	genome.wustl.edu	37	8	134232957	134232957	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:134232957delC	ENST00000250160.6	+	3	589	c.483delC	c.(481-483)cgcfs	p.R161fs	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	161	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TCCGAGTGCGCCCCCCGCGTC	0.652																																																	0													59.0	54.0	55.0					8																	134232957		2203	4299	6502	SO:0001589	frameshift_variant	0			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.483delC	8.37:g.134232957delC	ENSP00000250160:p.Arg161fs		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Frame_Shift_Del	DEL	pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.P163fs	ENST00000250160.6	37	c.483	CCDS6371.1	8																																																																																			WISP1	-	pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C	ENSG00000104415		0.652	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP1	HGNC	protein_coding	OTTHUMT00000378794.2		0.00	57	0	C	NM_003882		134232957	+1	tier1		no_errors	ENST00000250160	ensembl	human	known	74_37	frame_shift_del	12.07	51	7	DEL	0.918	-
WNK2	65268	genome.wustl.edu	37	9	96070769	96070769	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:96070769C>T	ENST00000297954.4	+	28	6530	c.6530C>T	c.(6529-6531)gCg>gTg	p.A2177V	WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A2140V|WNK2_ENST00000427277.2_Missense_Mutation_p.A1752V|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.A1789V	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2177					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTGGGGGCCGCGCAGCTGAAG	0.647																																																	0													77.0	52.0	61.0					9																	96070769		2198	4295	6493	SO:0001583	missense	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6530C>T	9.37:g.96070769C>T	ENSP00000297954:p.Ala2177Val		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A2177V	ENST00000297954.4	37	c.6530		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.99|18.99	3.740570|3.740570	0.69304|0.69304	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251;ENST00000453718	T;T;T;T|.	0.72167|.	-0.63;-0.61;0.01;0.01|.	5.55|5.55	4.66|4.66	0.58398|0.58398	.|.	0.387058|.	0.25071|.	N|.	0.033365|.	T|T	0.39172|0.39172	0.1068|0.1068	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999997|0.999997	D;P;B;D|.	0.58970|.	0.965;0.487;0.36;0.984|.	P;B;B;B|.	0.50162|.	0.633;0.015;0.023;0.381|.	T|T	0.23511|0.23511	-1.0186|-1.0186	10|5	0.66056|.	D|.	0.02|.	.|.	11.5415|11.5415	0.50669|0.50669	0.0:0.8561:0.0:0.1439|0.0:0.8561:0.0:0.1439	.|.	2140;1631;2140;2177|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	V|C	2177;2140;1789;1752|2136;937;614	ENSP00000297954:A2177V;ENSP00000378860:A2140V;ENSP00000297876:A1789V;ENSP00000411181:A1752V|.	ENSP00000297954:A2177V|.	A|R	+|+	2|1	0|0	WNK2|WNK2	95110590|95110590	0.581000|0.581000	0.26741|0.26741	0.002000|0.002000	0.10522|0.10522	0.976000|0.976000	0.68499|0.68499	4.836000|4.836000	0.62789|0.62789	1.350000|1.350000	0.45770|0.45770	0.655000|0.655000	0.94253|0.94253	GCG|CGC	WNK2	-	NULL	ENSG00000165238		0.647	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	-	0.00	69	0	C	NM_006648		96070769	+1	tier1	-	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	10.00	63	7	SNP	0.001	T
WNK2	65268	genome.wustl.edu	37	9	96079878	96079878	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:96079878C>T	ENST00000297954.4	+	29	6704	c.6704C>T	c.(6703-6705)cCc>cTc	p.P2235L	WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.P2198L|WNK2_ENST00000427277.2_Missense_Mutation_p.P1810L|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P1847L	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2235					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACGGTCATTCCCGGAGCCGCC	0.657																																																	0													59.0	51.0	54.0					9																	96079878		2203	4298	6501	SO:0001583	missense	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6704C>T	9.37:g.96079878C>T	ENSP00000297954:p.Pro2235Leu		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P2235L	ENST00000297954.4	37	c.6704		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748002|3.748002	0.69533|0.69533	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251	T;T;T;T|T;T	0.74842|0.79653	-0.88;-0.75;-0.12;-0.69|-1.29;-0.86	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.263665|0.263665	0.27236|0.27236	N|N	0.020290|0.020290	D|D	0.84977|0.84977	0.5592|0.5592	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.997;0.999;0.997|.	T|T	0.82694|0.82694	-0.0330|-0.0330	10|7	0.87932|.	D|.	0|.	.|.	18.2394|18.2394	0.89961|0.89961	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2198;1689;2198;2235|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	L|S	2235;2198;1847;1810|2194;995	ENSP00000297954:P2235L;ENSP00000378860:P2198L;ENSP00000297876:P1847L;ENSP00000411181:P1810L|ENSP00000415038:P2194S;ENSP00000390441:P995S	ENSP00000297954:P2235L|.	P|P	+|+	2|1	0|0	WNK2|WNK2	95119699|95119699	0.993000|0.993000	0.37304|0.37304	0.656000|0.656000	0.29637|0.29637	0.132000|0.132000	0.20833|0.20833	3.358000|3.358000	0.52284|0.52284	2.732000|2.732000	0.93576|0.93576	0.650000|0.650000	0.86243|0.86243	CCC|CCG	WNK2	-	NULL	ENSG00000165238		0.657	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	-	0.00	73	0	C	NM_006648		96079878	+1	tier1	-	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.995	T
WNT1	7471	genome.wustl.edu	37	12	49374348	49374348	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:49374348delG	ENST00000293549.3	+	3	536	c.500delG	c.(499-501)tggfs	p.W167fs		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	167					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)	p.G169fs*30(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		gACTGGCACTGGGGGGGCTGC	0.682																																																	1	Deletion - Frameshift(1)	large_intestine(1)											9.0	11.0	11.0					12																	49374348		2195	4281	6476	SO:0001589	frameshift_variant	0			X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.500delG	12.37:g.49374348delG	ENSP00000293549:p.Trp167fs		Q5U0N2	Frame_Shift_Del	DEL	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1	p.G169fs	ENST00000293549.3	37	c.500	CCDS8776.1	12																																																																																			WNT1	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000125084		0.682	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT1	HGNC	protein_coding	OTTHUMT00000408937.1		0.00	50	0	G			49374348	+1	tier1		no_errors	ENST00000293549	ensembl	human	known	74_37	frame_shift_del	15.22	39	7	DEL	1.000	-
WNT9A	7483	genome.wustl.edu	37	1	228109316	228109316	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:228109316A>G	ENST00000272164.5	-	4	1011	c.1001T>C	c.(1000-1002)gTg>gCg	p.V334A		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	334					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CCTTGTCACCACCCGGCTCTG	0.647																																																	0													50.0	45.0	46.0					1																	228109316		2203	4300	6503	SO:0001583	missense	0			AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.1001T>C	1.37:g.228109316A>G	ENSP00000272164:p.Val334Ala		A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a	p.V334A	ENST00000272164.5	37	c.1001	CCDS31045.1	1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873135	0.51695	.	.	ENSG00000143816	ENST00000272164	T	0.75704	-0.96	4.64	3.5	0.40072	.	0.145260	0.46145	N	0.000302	T	0.66366	0.2782	L	0.46157	1.445	0.40413	D	0.979769	P	0.36183	0.542	B	0.42959	0.403	T	0.58289	-0.7662	10	0.09084	T	0.74	.	8.0089	0.30342	0.8947:0.0:0.1053:0.0	.	334	O14904	WNT9A_HUMAN	A	334	ENSP00000272164:V334A	ENSP00000272164:V334A	V	-	2	0	WNT9A	226175939	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.421000	0.44688	0.840000	0.34995	0.397000	0.26171	GTG	WNT9A	-	pfam_Wnt,smart_Wnt	ENSG00000143816		0.647	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9A	HGNC	protein_coding	OTTHUMT00000091646.1	-	0.00	93	0	A	NM_003395		228109316	-1	tier1	-	no_errors	ENST00000272164	ensembl	human	known	74_37	missense	24.53	40	13	SNP	1.000	G
WRB	7485	genome.wustl.edu	37	21	40762674	40762674	+	Silent	SNP	G	G	A	rs142448585		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:40762674G>A	ENST00000333781.5	+	2	294	c.153G>A	c.(151-153)gcG>gcA	p.A51A	WRB_ENST00000380708.1_Silent_p.A17A|WRB_ENST00000466787.1_3'UTR|WRB_ENST00000541890.1_Silent_p.A51A|WRB_ENST00000398753.1_Silent_p.A17A	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	51	Interaction with ASNA1/TRC40.				tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A51A(1)		endometrium(3)	3		Prostate(19;1.2e-06)				AGATGAGAGCGGAGATCCAGG	0.552																																																	1	Substitution - coding silent(1)	endometrium(1)						G	,	1,4405	2.1+/-5.4	0,1,2202	149.0	106.0	121.0		51,153	-10.4	0.0	21	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WRB	NM_001146218.1,NM_004627.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	17/141,51/175	40762674	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13664.1, CCDS54485.1	21q22.3	2007-10-04			ENSG00000182093	ENSG00000182093			12790	protein-coding gene	gene with protein product		602915				9544840	Standard	NM_004627		Approved	CHD5	uc002yxs.3	O00258	OTTHUMG00000066250	ENST00000333781.5:c.153G>A	21.37:g.40762674G>A			A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	NULL	p.A51	ENST00000333781.5	37	c.153	CCDS13664.1	21																																																																																			WRB	-	NULL	ENSG00000182093		0.552	WRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRB	HGNC	protein_coding	OTTHUMT00000141745.3	-	0.00	61	0	G			40762674	+1	tier1	rs142448585	no_errors	ENST00000333781	ensembl	human	known	74_37	silent	31.91	32	15	SNP	0.001	A
WRN	7486	genome.wustl.edu	37	8	30946428	30946428	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:30946428T>C	ENST00000298139.5	+	13	1848	c.1599T>C	c.(1597-1599)aaT>aaC	p.N533N		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	533			N -> S (in dbSNP:rs11574240). {ECO:0000269|Ref.4}.		aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAGCACCCAATGAAGAGCAAG	0.333			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0													94.0	87.0	89.0					8																	30946428		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1599T>C	8.37:g.30946428T>C			A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.N533	ENST00000298139.5	37	c.1599	CCDS6082.1	8																																																																																			WRN	-	NULL	ENSG00000165392		0.333	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0.00	50	0	T			30946428	+1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	silent	23.86	67	21	SNP	0.002	C
WRN	7486	genome.wustl.edu	37	8	30977866	30977866	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:30977866T>C	ENST00000298139.5	+	21	2805	c.2556T>C	c.(2554-2556)atT>atC	p.I852I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	852	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATCAGGAGATTGGTAGAGCTG	0.393			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0													145.0	137.0	140.0					8																	30977866		2203	4299	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2556T>C	8.37:g.30977866T>C			A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.I852	ENST00000298139.5	37	c.2556	CCDS6082.1	8																																																																																			WRN	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000165392		0.393	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0.00	71	0	T			30977866	+1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	silent	10.67	67	8	SNP	0.998	C
WTAP	9589	genome.wustl.edu	37	6	160163106	160163106	+	Intron	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:160163106delT	ENST00000358372.4	+	4	1843				WTAP_ENST00000337387.4_Intron|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein						cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AATGTATGGATTTTTTTTTAT	0.284																																																	0									,,	159,22,46,4037		3,0,1,152,6,0,10,0,45,1915	57.0	62.0	60.0		,,	-2.0	0.0	6		60	3,43,0,8202		0,0,0,3,19,0,5,0,0,4097	no	intron,intron,intron	WTAP	NM_152858.1,NM_152857.1,NM_004906.3	,,	3,0,1,155,25,0,15,0,45,6012	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		0.5577,5.3236,2.1819	,,	,,	160163106	162,65,46,12239	2203	4297	6500	SO:0001627	intron_variant	0			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.87-14T>-	6.37:g.160163106delT			Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	RNA	DEL	-	NULL	ENST00000358372.4	37	NULL	CCDS5266.1	6																																																																																			WTAP	-	-	ENSG00000146457		0.284	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTAP	HGNC	protein_coding	OTTHUMT00000042905.1		0.00	69	0	T	NM_152857		160163106	+1	tier1		no_errors	ENST00000462110	ensembl	human	known	74_37	rna	32.14	38	18	DEL	0.006	-
WWC2	80014	genome.wustl.edu	37	4	184203860	184203860	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:184203860G>T	ENST00000403733.3	+	18	2883		c.e18-1		WWC2_ENST00000448232.2_Splice_Site|WWC2_ENST00000513834.1_Splice_Site|WWC2_ENST00000504005.1_Splice_Site|WWC2_ENST00000508747.1_Missense_Mutation_p.R23M	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TTTTACCATAGGCTAACAATG	0.413																																																	0													38.0	37.0	37.0					4																	184203860		2199	4296	6495	SO:0001630	splice_region_variant	0			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2685-1G>T	4.37:g.184203860G>T			Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Splice_Site	SNP	-	e18-1	ENST00000403733.3	37	c.2757-1	CCDS34109.2	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.44|14.44	2.534704|2.534704	0.45073|0.45073	.|.	.|.	ENSG00000151718|ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005|ENST00000508747	.|T	.|0.24908	.|1.83	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47691	.|0.1459	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.60473	.|0.875	.|T	.|0.47661	.|-0.9100	.|8	.|0.59425	.|D	.|0.04	.|.	16.6779|16.6779	0.85284|0.85284	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|23	.|Q6AWC2-7	.|.	.|M	-1|23	.|ENSP00000420835:R23M	.|ENSP00000420835:R23M	.|R	+|+	.|2	.|0	WWC2|WWC2	184440854|184440854	1.000000|1.000000	0.71417|0.71417	0.259000|0.259000	0.24435|0.24435	0.205000|0.205000	0.24178|0.24178	5.852000|5.852000	0.69488|0.69488	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	.|AGG	WWC2	-	-	ENSG00000151718		0.413	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	-	0.00	55	0	G	NM_024949	Intron	184203860	+1	tier1	-	no_errors	ENST00000448232	ensembl	human	known	74_37	splice_site	10.00	36	4	SNP	0.953	T
WWP1	11059	genome.wustl.edu	37	8	87443634	87443635	+	Splice_Site	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:87443634_87443635insA	ENST00000517970.1	+	13	1694_1695		c.e13-1		WWP1_ENST00000341922.2_Splice_Site|WWP1_ENST00000349423.2_Splice_Site|WWP1_ENST00000265428.4_Splice_Site	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1						central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTATATTTCAGAAAAAAGAGTG	0.252																																																	0																																										SO:0001630	splice_region_variant	0			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1388-1->A	8.37:g.87443640_87443640dupA			O00307|Q5YLC1|Q96BP4	Frame_Shift_Ins	INS	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.R465fs	ENST00000517970.1	37	c.1389_1388	CCDS6242.1	8																																																																																			WWP1	-	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	ENSG00000123124		0.252	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1		0.00	50	0	-	NM_007013	Intron	87443635	+1	tier1		no_errors	ENST00000265428	ensembl	human	known	74_37	frame_shift_ins	30.91	38	17	INS	1.000:1.000	A
WWP2	11060	genome.wustl.edu	37	16	69921970	69921971	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:69921970_69921971insC	ENST00000359154.2	+	8	833_834	c.732_733insC	c.(733-735)cccfs	p.P245fs	WWP2_ENST00000542271.1_Frame_Shift_Ins_p.P129fs|WWP2_ENST00000356003.2_Frame_Shift_Ins_p.P245fs|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Frame_Shift_Ins_p.P245fs|WWP2_ENST00000569174.1_Frame_Shift_Ins_p.P245fs	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	245					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCCACTGATCCCGAAGAACC	0.47																																																	0																																										SO:0001589	frameshift_variant	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.735dupC	16.37:g.69921973_69921973dupC	ENSP00000352069:p.Pro245fs		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Frame_Shift_Ins	INS	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.E245fs	ENST00000359154.2	37	c.732_733	CCDS10885.1	16																																																																																			WWP2	-	NULL	ENSG00000198373		0.470	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1		0.00	83	0	-	NM_007014		69921971	+1	tier1		no_errors	ENST00000356003	ensembl	human	known	74_37	frame_shift_ins	22.78	61	18	INS	0.900:0.891	C
XG	7499	genome.wustl.edu	37	X	2670327	2670327	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:2670327G>C	ENST00000381174.5	+	1	237	c.12G>C	c.(10-12)tgG>tgC	p.W4C	XG_ENST00000426774.1_Missense_Mutation_p.W4C|XG_ENST00000419513.2_Missense_Mutation_p.W4C			P55808	XG_HUMAN	Xg blood group	4						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGAGAGCTGGTGGGGACTTC	0.537																																																	0													102.0	106.0	105.0					X																	2670327		2203	4293	6496	SO:0001583	missense	0			AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.12G>C	X.37:g.2670327G>C	ENSP00000370566:p.Trp4Cys		E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	pfam_CD99L2	p.W4C	ENST00000381174.5	37	c.12	CCDS14120.1	X	.	.	.	.	.	.	.	.	.	.	G	8.288	0.817161	0.16607	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484	T;T;T;T	0.63096	-0.01;-0.02;0.03;0.15	1.29	0.325	0.15903	.	1.454510	0.05606	U	0.577297	T	0.43077	0.1231	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.36383	-0.9750	10	0.87932	D	0	.	4.2306	0.10601	0.0:0.0:0.6041:0.3959	.	4;4	P55808;P55808-3	XG_HUMAN;.	C	4	ENSP00000370566:W4C;ENSP00000411004:W4C;ENSP00000398503:W4C;ENSP00000430005:W4C	ENSP00000370566:W4C	W	+	3	0	XG	2680327	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.544000	0.06077	0.045000	0.15804	0.284000	0.19432	TGG	XG	-	NULL	ENSG00000124343		0.537	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	XG	HGNC	protein_coding	OTTHUMT00000055633.2	-	0.00	247	0	G	NM_175569		2670327	+1	tier1	-	no_errors	ENST00000419513	ensembl	human	known	74_37	missense	45.68	87	74	SNP	0.000	C
XIST	7503	genome.wustl.edu	37	X	73072350	73072350	+	lincRNA	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:73072350delA	ENST00000429829.1	-	0	238					NR_001564.2				X inactive specific transcript (non-protein coding)																		TACTTTCTTTAAAAAAATATG	0.264																																																	0													13.0	15.0	14.0					X																	73072350		870	1985	2855			0			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73072350delA				RNA	DEL	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.264	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1		0.00	146	0	A	NR_001564		73072350	-1	tier1		no_errors	ENST00000429829	ensembl	human	known	74_37	rna	31.48	74	34	DEL	0.000	-
XKR4	114786	genome.wustl.edu	37	8	56435983	56435983	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:56435983G>A	ENST00000327381.6	+	3	1250	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	384						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTCACCATCGCCGCCAGGGT	0.552																																																	0													300.0	233.0	256.0					8																	56435983		2203	4300	6503	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1150G>A	8.37:g.56435983G>A	ENSP00000328326:p.Ala384Thr		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.A384T	ENST00000327381.6	37	c.1150	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008417	0.75046	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.63096	-0.02	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71316	0.3325	L	0.37697	1.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.64765	-0.6330	10	0.20046	T	0.44	-15.5128	19.531	0.95230	0.0:0.0:1.0:0.0	.	384	Q5GH76	XKR4_HUMAN	T	384	ENSP00000328326:A384T	ENSP00000328326:A384T	A	+	1	0	XKR4	56598537	1.000000	0.71417	0.966000	0.40874	0.981000	0.71138	7.863000	0.87023	2.614000	0.88457	0.557000	0.71058	GCC	XKR4	-	pfam_Transport_prot_XK	ENSG00000206579		0.552	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0.00	70	0	G	NM_052898		56435983	+1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	34.62	68	36	SNP	1.000	A
XPA	7507	genome.wustl.edu	37	9	100437634	100437634	+	3'UTR	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:100437634delT	ENST00000375128.4	-	0	973				XPA_ENST00000485042.1_5'UTR	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A						DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				AAGATGTTGCTTTTTTTTTTG	0.264			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""xeroderma pigmentosum, complementation group A"""		E	0																																										SO:0001624	3_prime_UTR_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.*87A>-	9.37:g.100437634delT			Q5T1U9|Q6LCW7|Q6LD02	RNA	DEL	-	NULL	ENST00000375128.4	37	NULL	CCDS6729.1	9																																																																																			XPA	-	-	ENSG00000136936		0.264	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPA	HGNC	protein_coding	OTTHUMT00000053332.1		0.00	15	0	T	NM_000380		100437634	-1	tier1		no_errors	ENST00000485042	ensembl	human	known	74_37	rna	28.57	15	6	DEL	0.004	-
XPA	7507	genome.wustl.edu	37	9	100444701	100444701	+	Intron	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:100444701C>T	ENST00000375128.4	-	5	738					NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A						DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				TTCAGGAAGGCGGGAACAACC	0.443			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""xeroderma pigmentosum, complementation group A"""		E	0													205.0	194.0	197.0					9																	100444701		876	1991	2867	SO:0001627	intron_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.673+2503G>A	9.37:g.100444701C>T			Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA	p.A229T	ENST00000375128.4	37	c.685	CCDS6729.1	9																																																																																			XPA	-	NULL	ENSG00000136936		0.443	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPA	HGNC	protein_coding	OTTHUMT00000053332.1	-	0.00	52	0	C	NM_000380		100444701	-1	tier1	-	no_errors	ENST00000462523	ensembl	human	known	74_37	missense	14.58	41	7	SNP	0.001	T
XPO5	57510	genome.wustl.edu	37	6	43538375	43538375	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:43538375T>G	ENST00000265351.7	-	5	695	c.485A>C	c.(484-486)gAg>gCg	p.E162A		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	162					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CACTACATCCTCTGCCAGTCG	0.373																																																	0													108.0	105.0	106.0					6																	43538375		1874	4112	5986	SO:0001583	missense	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.485A>C	6.37:g.43538375T>G	ENSP00000265351:p.Glu162Ala		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.E162A	ENST00000265351.7	37	c.485	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	T	31	5.098320	0.94197	.	.	ENSG00000124571	ENST00000265351	T	0.57595	0.39	5.78	5.78	0.91487	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75348	-0.3349	10	0.66056	D	0.02	-19.7027	16.3979	0.83621	0.0:0.0:0.0:1.0	.	162	Q9HAV4	XPO5_HUMAN	A	162	ENSP00000265351:E162A	ENSP00000265351:E162A	E	-	2	0	XPO5	43646353	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.997000	0.88414	2.333000	0.79357	0.533000	0.62120	GAG	XPO5	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000124571		0.373	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	-	0.00	54	0	T	NM_020750		43538375	-1	tier1	-	no_errors	ENST00000265351	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	G
XPOT	11260	genome.wustl.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)tttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443																																																	1	Deletion - Frameshift(1)	large_intestine(1)											118.0	114.0	115.0					12																	64812755		2203	4300	6503	SO:0001589	frameshift_variant	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.370delT	12.37:g.64812755delT	ENSP00000327821:p.Phe126fs		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Del	DEL	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.F126fs	ENST00000332707.5	37	c.370	CCDS31852.1	12																																																																																			XPOT	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000184575		0.443	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1		0.00	105	0	T	NM_007235		64812755	+1	tier1		no_errors	ENST00000332707	ensembl	human	known	74_37	frame_shift_del	23.42	85	26	DEL	1.000	-
XRCC5	7520	genome.wustl.edu	37	2	216990641	216990642	+	Splice_Site	DEL	GA	GA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:216990641_216990642delGA	ENST00000392133.3	+	9	1146_1147	c.685_686delGA	c.(685-687)gag>g	p.E229fs	XRCC5_ENST00000392132.2_Splice_Site_p.E229fs			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	229					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTATTAAGTGAGAGTCTGAGA	0.361								Non-homologous end-joining																																									0																																										SO:0001630	splice_region_variant	0			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.684-1GA>-	2.37:g.216990643_216990644delGA			A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Frame_Shift_Del	DEL	pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom	p.L231fs	ENST00000392133.3	37	c.685_686	CCDS2402.1	2																																																																																			XRCC5	-	pfam_Ku_N,smart_VWF_A	ENSG00000079246		0.361	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC5	HGNC	protein_coding	OTTHUMT00000256675.3		0.00	55	0	GA	NM_021141	Frame_Shift_Del	216990642	+1	tier1		no_errors	ENST00000392132	ensembl	human	known	74_37	frame_shift_del	29.58	50	21	DEL	1.000:1.000	-
XXYLT1	152002	genome.wustl.edu	37	3	194877218	194877218	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:194877218C>T	ENST00000310380.6	-	3	853	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	XXYLT1_ENST00000355729.4_Missense_Mutation_p.A46T|XXYLT1_ENST00000437101.1_Missense_Mutation_p.A46T|XXYLT1_ENST00000429994.1_Missense_Mutation_p.A103T	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	249						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CCGATGATGGCGCCTGGCAGG	0.577																																																	0													64.0	70.0	68.0					3																	194877218		1940	4139	6079	SO:0001583	missense	0			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.745G>A	3.37:g.194877218C>T	ENSP00000309640:p.Ala249Thr		D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.A249T	ENST00000310380.6	37	c.745	CCDS43188.1	3	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489874	0.26686	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000458652	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.48	4.6	0.57074	.	0.163774	0.53938	D	0.000050	T	0.12305	0.0299	L	0.32530	0.975	0.45439	D	0.998418	P;P;B	0.38551	0.636;0.469;0.286	B;B;B	0.30646	0.118;0.058;0.032	T	0.03130	-1.1069	10	0.45353	T	0.12	-5.5457	6.3346	0.21289	0.1837:0.7253:0.0:0.091	.	103;249;46	C9JV19;Q8NBI6;Q8NBI6-2	.;XXLT1_HUMAN;.	T	249;46;46;103;103	ENSP00000309640:A249T;ENSP00000409865:A46T;ENSP00000347967:A46T;ENSP00000399422:A103T	ENSP00000309640:A249T	A	-	1	0	C3orf21	196358507	0.997000	0.39634	0.337000	0.25536	0.624000	0.37722	3.629000	0.54266	2.569000	0.86673	0.563000	0.77884	GCC	XXYLT1	-	pfam_Glyco_trans_8	ENSG00000173950		0.577	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XXYLT1	HGNC	protein_coding	OTTHUMT00000342290.1	-	0.00	47	0	C	NM_152531		194877218	-1	tier1	-	no_errors	ENST00000310380	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.905	T
XYLT2	64132	genome.wustl.edu	37	17	48432899	48432899	+	Missense_Mutation	SNP	C	C	T	rs369645772		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:48432899C>T	ENST00000017003.2	+	5	1094	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	XYLT2_ENST00000507602.1_Missense_Mutation_p.R349W	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	349					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATCCAAGAACCGGGACAAGAA	0.587																																																	0													73.0	67.0	69.0					17																	48432899		2203	4300	6503	SO:0001583	missense	0			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1045C>T	17.37:g.48432899C>T	ENSP00000017003:p.Arg349Trp		Q6UY41|Q86V00	Missense_Mutation	SNP	pfam_XylT,pfam_Glyco_trans_14	p.R349W	ENST00000017003.2	37	c.1045	CCDS11563.1	17	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919748	0.73098	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.12147	2.71;2.71	4.47	4.47	0.54385	.	0.135814	0.48767	D	0.000171	T	0.45994	0.1370	M	0.93854	3.465	0.58432	D	0.999991	D	0.76494	0.999	D	0.77004	0.989	T	0.58323	-0.7656	10	0.87932	D	0	-25.0122	12.4892	0.55891	0.167:0.833:0.0:0.0	.	349	Q9H1B5	XYLT2_HUMAN	W	349	ENSP00000017003:R349W;ENSP00000426501:R349W	ENSP00000017003:R349W	R	+	1	2	XYLT2	45787898	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.704000	0.37857	2.347000	0.79759	0.456000	0.33151	CGG	XYLT2	-	pfam_Glyco_trans_14	ENSG00000015532		0.587	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1	-	0.00	23	0	C	NM_022167		48432899	+1	tier1	-	no_errors	ENST00000017003	ensembl	human	known	74_37	missense	72.00	7	18	SNP	1.000	T
YBX1	4904	genome.wustl.edu	37	1	43166567	43166567	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:43166567A>G	ENST00000321358.7	+	7	995	c.856A>G	c.(856-858)Aat>Gat	p.N286D		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	286					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGCAACTTCAATTACCGACG	0.522																																																	0													72.0	65.0	67.0					1																	43166567		2203	4300	6503	SO:0001583	missense	0			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.856A>G	1.37:g.43166567A>G	ENSP00000361626:p.Asn286Asp		P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.N286D	ENST00000321358.7	37	c.856	CCDS470.1	1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534058	0.64972	.	.	ENSG00000065978	ENST00000321358;ENST00000318612	T	0.35048	1.33	5.35	5.35	0.76521	.	0.080919	0.85682	D	0.000000	T	0.45357	0.1338	M	0.90019	3.08	0.58432	D	0.999998	B	0.29862	0.259	B	0.24848	0.056	T	0.47484	-0.9114	10	0.30854	T	0.27	-1.9965	13.3434	0.60557	1.0:0.0:0.0:0.0	.	286	P67809	YBOX1_HUMAN	D	286;276	ENSP00000361626:N286D	ENSP00000361621:N276D	N	+	1	0	YBX1	42939154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.169000	0.89672	2.023000	0.59567	0.451000	0.29950	AAT	YBX1	-	NULL	ENSG00000065978		0.522	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX1	HGNC	protein_coding	OTTHUMT00000019786.2	-	0.00	141	0	A	NM_004559		43166567	+1	tier1	-	no_errors	ENST00000321358	ensembl	human	known	74_37	missense	12.40	106	15	SNP	1.000	G
YEATS2	55689	genome.wustl.edu	37	3	183454555	183454555	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:183454555A>G	ENST00000305135.5	+	8	1057	c.862A>G	c.(862-864)Aga>Gga	p.R288G		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	288	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTTCCCGTCAGAGTTCAAGT	0.418																																																	0													139.0	130.0	133.0					3																	183454555		1857	4105	5962	SO:0001583	missense	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.862A>G	3.37:g.183454555A>G	ENSP00000306983:p.Arg288Gly		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.R288G	ENST00000305135.5	37	c.862	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	A	18.62	3.662756	0.67700	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.27104	1.69	5.52	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	L	0.49778	1.585	0.58432	D	0.999996	D	0.57899	0.981	D	0.68039	0.955	T	0.26608	-1.0098	10	0.72032	D	0.01	-28.4756	12.0122	0.53293	0.7266:0.2734:0.0:0.0	.	288	Q9ULM3	YETS2_HUMAN	G	288	ENSP00000306983:R288G	ENSP00000306983:R288G	R	+	1	2	YEATS2	184937249	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.116000	0.57871	0.906000	0.36621	0.528000	0.53228	AGA	YEATS2	-	pfam_YEATS,pfscan_YEATS	ENSG00000163872		0.418	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	-	0.00	73	0	A	NM_018023		183454555	+1	tier1	-	no_errors	ENST00000305135	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	G
YES1	7525	genome.wustl.edu	37	18	743079	743079	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:743079G>A	ENST00000584307.1	-	8	1069	c.899C>T	c.(898-900)aCg>aTg	p.T300M	YES1_ENST00000314574.4_Missense_Mutation_p.T300M|YES1_ENST00000577961.1_Missense_Mutation_p.T305M			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TGCTACTTTCGTGGTTCCATT	0.313																																																	0													107.0	102.0	103.0					18																	743079		2203	4299	6502	SO:0001583	missense	0			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.899C>T	18.37:g.743079G>A	ENSP00000462468:p.Thr300Met		A6NLB3|D3DUH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.T300M	ENST00000584307.1	37	c.899	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382247	0.82792	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.82893	-1.66	5.78	5.78	0.91487	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	P	0.60415	0.874	D	0.89237	0.3581	10	0.62326	D	0.03	.	20.0215	0.97504	0.0:0.0:1.0:0.0	.	300	P07947	YES_HUMAN	M	300	ENSP00000324740:T300M	ENSP00000324740:T300M	T	-	2	0	YES1	733079	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.639000	0.98448	2.735000	0.93741	0.650000	0.86243	ACG	YES1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000176105		0.313	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	HGNC	protein_coding	OTTHUMT00000440827.2	-	0.00	67	0	G	NM_005433		743079	-1	tier1	-	no_errors	ENST00000314574	ensembl	human	known	74_37	missense	16.95	49	10	SNP	1.000	A
YIF1A	10897	genome.wustl.edu	37	11	66052316	66052316	+	Intron	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66052316delG	ENST00000376901.4	-	7	920				YIF1A_ENST00000471387.2_Frame_Shift_Del_p.L112fs|YIF1A_ENST00000526497.1_Intron|CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000359461.6_Intron|YIF1A_ENST00000496746.1_Intron	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						AGTGAAGGCAGGGGAATGGGG	0.632																																																	0													36.0	42.0	40.0					11																	66052316		2200	4294	6494	SO:0001627	intron_variant	0			AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.735+27C>-	11.37:g.66052316delG			A6NM00|Q96G83|Q9BVD0	Frame_Shift_Del	DEL	pfam_Hrf1	p.L112fs	ENST00000376901.4	37	c.334	CCDS8132.1	11																																																																																			YIF1A	-	NULL	ENSG00000174851		0.632	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1A	HGNC	protein_coding	OTTHUMT00000219903.3		0.00	62	0	G	NM_020470		66052316	-1	tier1		no_errors	ENST00000471387	ensembl	human	putative	74_37	frame_shift_del	14.00	43	7	DEL	0.000	-
YLPM1	56252	genome.wustl.edu	37	14	75277022	75277023	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:75277022_75277023insA	ENST00000552421.1	+	8	3133_3134	c.3009_3010insA	c.(3010-3012)aaafs	p.K1004fs	YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.K1710fs|YLPM1_ENST00000238571.3_Frame_Shift_Ins_p.K1515fs			P49750	YLPM1_HUMAN	YLP motif containing 1	1515	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATCGAGATTTTAAAAGGGATCG	0.45																																																	0																																										SO:0001589	frameshift_variant	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3013dupA	14.37:g.75277026_75277026dupA	ENSP00000447921:p.Lys1004fs		P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	superfamily_P-loop_NTPase	p.R1710fs	ENST00000552421.1	37	c.5127_5128		14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.450	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1		0.00	51	0	-	NM_019589		75277023	+1	tier1		no_errors	ENST00000325680	ensembl	human	known	74_37	frame_shift_ins	16.67	20	4	INS	1.000:1.000	A
YTHDC2	64848	genome.wustl.edu	37	5	112889315	112889315	+	Nonsense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:112889315T>G	ENST00000161863.4	+	14	2109	c.1896T>G	c.(1894-1896)taT>taG	p.Y632*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Y632*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	632	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGCCTGGATATGACGAAATTG	0.368																																																	0													134.0	131.0	132.0					5																	112889315		2202	4300	6502	SO:0001587	stop_gained	0			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1896T>G	5.37:g.112889315T>G	ENSP00000161863:p.Tyr632*		B2RP66	Nonsense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y632*	ENST00000161863.4	37	c.1896	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	T	38	7.166523	0.98107	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	.	.	.	5.56	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2528	0.49037	0.0:0.0721:0.0:0.9279	.	.	.	.	X	632;632;542	.	ENSP00000161863:Y632X	Y	+	3	2	YTHDC2	112917214	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.653000	0.54446	0.923000	0.37045	0.528000	0.53228	TAT	YTHDC2	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000047188		0.368	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	-	0.00	49	0	T	NM_022828		112889315	+1	tier1	-	no_errors	ENST00000161863	ensembl	human	known	74_37	nonsense	8.62	53	5	SNP	1.000	G
YY1	7528	genome.wustl.edu	37	14	100706003	100706003	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:100706003G>A	ENST00000262238.4	+	1	682	c.422G>A	c.(421-423)gGc>gAc	p.G141D	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	141	Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCGGCCGGCGGCGACGACGAC	0.726																																																	0													27.0	31.0	30.0					14																	100706003		2191	4282	6473	SO:0001583	missense	0			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.422G>A	14.37:g.100706003G>A	ENSP00000262238:p.Gly141Asp		Q14935	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.G141D	ENST00000262238.4	37	c.422	CCDS9957.1	14	.	.	.	.	.	.	.	.	.	.	G	4.752	0.139928	0.09083	.	.	ENSG00000100811	ENST00000262238	T	0.10192	2.9	2.34	1.32	0.21799	.	0.241411	0.33092	U	0.005286	T	0.02649	0.0080	N	0.01576	-0.805	0.28101	N	0.931401	B	0.33694	0.421	B	0.30495	0.116	T	0.45131	-0.9282	10	0.05436	T	0.98	.	9.2624	0.37621	0.0:0.225:0.775:0.0	.	141	P25490	TYY1_HUMAN	D	141	ENSP00000262238:G141D	ENSP00000262238:G141D	G	+	2	0	YY1	99775756	1.000000	0.71417	0.952000	0.39060	0.991000	0.79684	4.955000	0.63638	0.243000	0.21327	0.448000	0.29417	GGC	YY1	-	pirsf_TF_Yin_yang	ENSG00000100811		0.726	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1	-	0.00	12	0	G	NM_003403		100706003	+1	tier1	-	no_errors	ENST00000262238	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.984	A
YY1	7528	genome.wustl.edu	37	14	100706005	100706005	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:100706005G>A	ENST00000262238.4	+	1	684	c.424G>A	c.(424-426)Gac>Aac	p.D142N	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	142	Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				GGCCGGCGGCGACGACGACTA	0.731																																																	0													26.0	30.0	29.0					14																	100706005		2190	4281	6471	SO:0001583	missense	0			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.424G>A	14.37:g.100706005G>A	ENSP00000262238:p.Asp142Asn		Q14935	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.D142N	ENST00000262238.4	37	c.424	CCDS9957.1	14	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997235	0.74818	.	.	ENSG00000100811	ENST00000262238	T	0.10860	2.83	2.34	2.34	0.29019	.	0.067765	0.56097	U	0.000023	T	0.07234	0.0183	N	0.22421	0.69	0.47476	D	0.999439	B	0.21688	0.059	B	0.10450	0.005	T	0.28650	-1.0037	10	0.31617	T	0.26	.	11.5457	0.50693	0.0:0.0:1.0:0.0	.	142	P25490	TYY1_HUMAN	N	142	ENSP00000262238:D142N	ENSP00000262238:D142N	D	+	1	0	YY1	99775758	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	5.219000	0.65262	1.289000	0.44618	0.448000	0.29417	GAC	YY1	-	pirsf_TF_Yin_yang	ENSG00000100811		0.731	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1	-	0.00	11	0	G	NM_003403		100706005	+1	tier1	-	no_errors	ENST00000262238	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	A
ZACN	353174	genome.wustl.edu	37	17	74077707	74077707	+	Frame_Shift_Del	DEL	G	G	-	rs146722649		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:74077707delG	ENST00000334586.5	+	7	834	c.751delG	c.(751-753)gggfs	p.G252fs	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	252	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TGACGTGTGCGGGGGGTTGCT	0.612																																																	0													115.0	110.0	112.0					17																	74077707		2203	4300	6503	SO:0001589	frameshift_variant	0			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.751delG	17.37:g.74077707delG	ENSP00000334854:p.Gly252fs		Q2TB29|Q6ZWK3|Q86YW4	Frame_Shift_Del	DEL	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM	p.L253fs	ENST00000334586.5	37	c.751	CCDS11740.2	17																																																																																			ZACN	-	superfamily_Neurotrans-gated_channel_TM	ENSG00000186919		0.612	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZACN	HGNC	protein_coding	OTTHUMT00000347827.2		0.00	49	0	G	NM_180990		74077707	+1	tier1		no_errors	ENST00000334586	ensembl	human	known	74_37	frame_shift_del	27.03	27	10	DEL	0.950	-
ZBTB11	27107	genome.wustl.edu	37	3	101371366	101371366	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:101371366T>A	ENST00000312938.4	-	10	3198	c.2618A>T	c.(2617-2619)tAt>tTt	p.Y873F		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	873					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTGTCTCCTATACTCTCTTAG	0.383																																																	0													156.0	158.0	157.0					3																	101371366		2202	4300	6502	SO:0001583	missense	0			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2618A>T	3.37:g.101371366T>A	ENSP00000326200:p.Tyr873Phe		Q2NKP9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Y873F	ENST00000312938.4	37	c.2618	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	T	24.2	4.502646	0.85176	.	.	ENSG00000066422	ENST00000312938	T	0.49139	0.79	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	N	0.05158	-0.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60915	-0.7168	10	0.56958	D	0.05	-18.8329	15.7265	0.77763	0.0:0.0:0.0:1.0	.	873	O95625	ZBT11_HUMAN	F	873	ENSP00000326200:Y873F	ENSP00000326200:Y873F	Y	-	2	0	ZBTB11	102854056	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	5.899000	0.69846	2.169000	0.68431	0.528000	0.53228	TAT	ZBTB11	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000066422		0.383	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	-	0.00	66	0	T	NM_014415		101371366	-1	tier1	-	no_errors	ENST00000312938	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	A
ZBTB12	221527	genome.wustl.edu	37	6	31868164	31868164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31868164delC	ENST00000375527.2	-	2	1094	c.919delG	c.(919-921)gcgfs	p.A307fs	C2_ENST00000452323.2_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375530.4_5'Flank|EHMT2_ENST00000375537.4_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	307	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						ctgccccccgccccccgggcA	0.716																																																	0													1.0	2.0	2.0					6																	31868164		890	1802	2692	SO:0001589	frameshift_variant	0			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.919delG	6.37:g.31868164delC	ENSP00000364677:p.Ala307fs		B0UY00|Q5JQ98	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A307fs	ENST00000375527.2	37	c.919	CCDS4727.1	6																																																																																			ZBTB12	-	NULL	ENSG00000204366		0.716	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	HGNC	protein_coding	OTTHUMT00000076315.2		0.00	37	0	C	NM_181842		31868164	-1	tier1		no_errors	ENST00000375527	ensembl	human	known	74_37	frame_shift_del	22.50	31	9	DEL	0.002	-
ZBTB20	26137	genome.wustl.edu	37	3	114069876	114069876	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:114069876C>T	ENST00000474710.1	-	4	1227	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R277H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R277H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R277H|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R277H|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R277H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R277H	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	350						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGATTCGTTGCGTTCCAGGAT	0.582																																					NSCLC(69;748 1344 9802 11203 30933)												0													130.0	91.0	104.0					3																	114069876		2203	4300	6503	SO:0001583	missense	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1049G>A	3.37:g.114069876C>T	ENSP00000419153:p.Arg350His		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R350H	ENST00000474710.1	37	c.1049	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439295	0.63067	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.12147	2.78;2.78;2.78;2.78;2.71;2.78;2.78	5.28	4.39	0.52855	.	0.102002	0.44483	D	0.000456	T	0.10078	0.0247	N	0.19112	0.55	0.42428	D	0.992661	B	0.02656	0.0	B	0.01281	0.0	T	0.11372	-1.0590	10	0.40728	T	0.16	.	14.3553	0.66733	0.0:0.928:0.0:0.072	.	350	Q9HC78	ZBT20_HUMAN	H	277;277;277;277;350;277;277	ENSP00000420324:R277H;ENSP00000377375:R277H;ENSP00000418092:R277H;ENSP00000419902:R277H;ENSP00000419153:R350H;ENSP00000349803:R277H;ENSP00000417307:R277H	ENSP00000349803:R277H	R	-	2	0	ZBTB20	115552566	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.891000	0.56227	2.763000	0.94921	0.650000	0.86243	CGC	ZBTB20	-	NULL	ENSG00000181722		0.582	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	-	0.00	52	0	C	NM_015642		114069876	-1	tier1	-	no_errors	ENST00000474710	ensembl	human	known	74_37	missense	41.82	32	23	SNP	1.000	T
ZBTB21	49854	genome.wustl.edu	37	21	43412316	43412317	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:43412316_43412317delTC	ENST00000310826.5	-	3	2071_2072	c.1888_1889delGA	c.(1888-1890)gaafs	p.E630fs	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Frame_Shift_Del_p.E630fs|ZBTB21_ENST00000398511.3_Frame_Shift_Del_p.E630fs	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	630					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CTTCTTAATTTCTCTCTCTCTC	0.455																																																	0																																										SO:0001589	frameshift_variant	0			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.1888_1889delGA	21.37:g.43412326_43412327delTC	ENSP00000308759:p.Glu630fs		Q5R2W1|Q5R2W2|Q6P4R0	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E630fs	ENST00000310826.5	37	c.1889_1888	CCDS13678.1	21																																																																																			ZBTB21	-	NULL	ENSG00000173276		0.455	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB21	HGNC	protein_coding	OTTHUMT00000195308.1		0.00	46	0	TC	NM_020727		43412317	-1	tier1		no_errors	ENST00000310826	ensembl	human	known	74_37	frame_shift_del	24.44	34	11	DEL	1.000:1.000	-
ZBTB48	3104	genome.wustl.edu	37	1	6649032	6649032	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:6649032G>A	ENST00000377674.4	+	11	1985	c.1827G>A	c.(1825-1827)cgG>cgA	p.R609R		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	609					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		ACAACCCGCGGCAGCGCAAGC	0.642																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)												0													57.0	68.0	64.0					1																	6649032		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1827G>A	1.37:g.6649032G>A			Q5SY19	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R609	ENST00000377674.4	37	c.1827	CCDS84.1	1																																																																																			ZBTB48	-	NULL	ENSG00000204859		0.642	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB48	HGNC	protein_coding	OTTHUMT00000004193.1	-	0.00	60	0	G	NM_005341		6649032	+1	tier1	-	no_errors	ENST00000377674	ensembl	human	known	74_37	silent	11.11	48	6	SNP	0.996	A
ZBTB5	9925	genome.wustl.edu	37	9	37441755	37441755	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:37441755C>A	ENST00000307750.4	-	2	982	c.794G>T	c.(793-795)gGc>gTc	p.G265V		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TTCTTGAGTGCCAAAAGACTG	0.458																																																	0													75.0	80.0	79.0					9																	37441755		2203	4300	6503	SO:0001583	missense	0			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.794G>T	9.37:g.37441755C>A	ENSP00000307604:p.Gly265Val			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G265V	ENST00000307750.4	37	c.794	CCDS6610.1	9	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005779	0.19199	.	.	ENSG00000168795	ENST00000307750	T	0.08634	3.07	5.65	4.73	0.59995	.	0.638375	0.16473	N	0.212866	T	0.04815	0.0130	N	0.08118	0	0.21445	N	0.999687	B	0.26512	0.151	B	0.23574	0.047	T	0.39035	-0.9633	10	0.26408	T	0.33	.	12.3395	0.55085	0.0:0.8691:0.0:0.1309	.	265	O15062	ZBTB5_HUMAN	V	265	ENSP00000307604:G265V	ENSP00000307604:G265V	G	-	2	0	ZBTB5	37431755	0.700000	0.27796	0.467000	0.27180	0.967000	0.64934	2.624000	0.46444	2.941000	0.99782	0.655000	0.94253	GGC	ZBTB5	-	NULL	ENSG00000168795		0.458	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1		0.00	35	0	C	NM_014872		37441755	-1			no_errors	ENST00000307750	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.020	A
ZBTB8A	653121	genome.wustl.edu	37	1	33060715	33060715	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:33060715C>T	ENST00000373510.4	+	4	1113	c.884C>T	c.(883-885)gCa>gTa	p.A295V	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.A295V|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AAGCGGAAGGCAGACCTAAAG	0.473																																																	0													148.0	119.0	129.0					1																	33060715		2203	4300	6503	SO:0001583	missense	0			AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.884C>T	1.37:g.33060715C>T	ENSP00000362609:p.Ala295Val		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A295V	ENST00000373510.4	37	c.884	CCDS30664.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458602	0.84317	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.07688	3.17;3.17	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.28433	0.0703	M	0.63843	1.955	0.58432	D	0.999997	D;P	0.89917	1.0;0.851	D;P	0.76071	0.987;0.616	T	0.00218	-1.1908	10	0.66056	D	0.02	-11.9807	18.6666	0.91492	0.0:1.0:0.0:0.0	.	295;295	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	V	295	ENSP00000362609:A295V;ENSP00000317561:A295V	ENSP00000317561:A295V	A	+	2	0	ZBTB8A	32833302	1.000000	0.71417	0.738000	0.30950	0.961000	0.63080	7.391000	0.79828	2.727000	0.93392	0.579000	0.79373	GCA	ZBTB8A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160062		0.473	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB8A	HGNC	protein_coding	OTTHUMT00000021665.2	-	0.00	56	0	C	NM_144621		33060715	+1	tier1	-	no_errors	ENST00000373510	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	T
ZC3H13	23091	genome.wustl.edu	37	13	46542966	46542967	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:46542966_46542967insT	ENST00000242848.4	-	14	4060_4061	c.3712_3713insA	c.(3712-3714)acafs	p.T1238fs	ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.T1238fs|ZC3H13_ENST00000378921.2_Frame_Shift_Ins_p.T194fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1238	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CAGGCTTTTTGTTTTTTCTCTA	0.431																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0																																										SO:0001589	frameshift_variant	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3713dupA	13.37:g.46542972_46542972dupT	ENSP00000242848:p.Thr1238fs		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Ins	INS	pfam_Znf_CCCH,smart_Znf_CCCH	p.T1238fs	ENST00000242848.4	37	c.3713_3712		13																																																																																			ZC3H13	-	NULL	ENSG00000123200		0.431	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1		0.00	63	0	-	NM_015070		46542967	-1	tier1		no_errors	ENST00000242848	ensembl	human	known	74_37	frame_shift_ins	23.21	43	13	INS	0.994:1.000	T
ZC3H18	124245	genome.wustl.edu	37	16	88691141	88691141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:88691141delC	ENST00000301011.5	+	12	2230	c.2030delC	c.(2029-2031)accfs	p.T677fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.T701fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	677	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R680fs*5(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGCCAGGACCCCCCCCAGG	0.667																																					Ovarian(121;375 2276 20373 38669)												1	Deletion - Frameshift(1)	large_intestine(1)											24.0	38.0	33.0					16																	88691141		2192	4300	6492	SO:0001589	frameshift_variant	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2030delC	16.37:g.88691141delC	ENSP00000301011:p.Thr677fs		Q96DG4|Q96MP7	Frame_Shift_Del	DEL	smart_Znf_CCCH	p.R680fs	ENST00000301011.5	37	c.2030	CCDS10967.1	16																																																																																			ZC3H18	-	NULL	ENSG00000158545		0.667	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1		0.00	50	0	C	NM_144604		88691141	+1	tier1		no_errors	ENST00000301011	ensembl	human	known	74_37	frame_shift_del	24.14	44	14	DEL	0.568	-
ZC3H3	23144	genome.wustl.edu	37	8	144621273	144621273	+	Silent	SNP	G	G	A	rs372924588		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:144621273G>A	ENST00000262577.5	-	2	295	c.264C>T	c.(262-264)gcC>gcT	p.A88A	RP11-661A12.5_ENST00000530600.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	88					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CAGCATGGTCGGCAGGAGGGT	0.667																																																	0								G		1,4405		0,1,2202	49.0	51.0	51.0		264	-9.3	0.0	8		51	0,8592		0,0,4296	no	coding-synonymous	ZC3H3	NM_015117.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		88/949	144621273	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	0			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.264C>T	8.37:g.144621273G>A			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.A88	ENST00000262577.5	37	c.264	CCDS6402.1	8																																																																																			ZC3H3	-	NULL	ENSG00000014164		0.667	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2	-	0.00	92	0	G	NM_015117		144621273	-1	tier1	-	no_errors	ENST00000262577	ensembl	human	known	74_37	silent	9.18	89	9	SNP	0.000	A
ZCCHC11	23318	genome.wustl.edu	37	1	52937633	52937633	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:52937633delT	ENST00000371544.3	-	14	3131	c.2869delA	c.(2869-2871)agafs	p.R957fs	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.R957fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	957					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CCAAAACATCTTTTACATACT	0.294																																																	0													73.0	73.0	73.0					1																	52937633		2203	4300	6503	SO:0001589	frameshift_variant	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2869delA	1.37:g.52937633delT	ENSP00000360599:p.Arg957fs		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Del	DEL	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.R957fs	ENST00000371544.3	37	c.2869	CCDS30716.1	1																																																																																			ZCCHC11	-	NULL	ENSG00000134744		0.294	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1		0.00	77	0	T	XM_038288		52937633	-1	tier1		no_errors	ENST00000257177	ensembl	human	known	74_37	frame_shift_del	14.47	65	11	DEL	1.000	-
ZCCHC11	23318	genome.wustl.edu	37	1	52940535	52940535	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:52940535A>G	ENST00000371544.3	-	13	2958	c.2696T>C	c.(2695-2697)gTg>gCg	p.V899A	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.V899A	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	899					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTTATCAAACACATAATATAA	0.363																																																	0													58.0	61.0	60.0					1																	52940535		2203	4300	6503	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2696T>C	1.37:g.52940535A>G	ENSP00000360599:p.Val899Ala		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V899A	ENST00000371544.3	37	c.2696	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367857	0.61513	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.48201	0.82;0.83;0.87;0.87	5.49	5.49	0.81192	.	0.135420	0.50627	D	0.000108	T	0.47875	0.1469	L	0.47716	1.5	0.80722	D	1	P;D	0.58268	0.61;0.982	B;P	0.50162	0.219;0.633	T	0.39292	-0.9621	10	0.09084	T	0.74	.	15.5794	0.76422	1.0:0.0:0.0:0.0	.	658;899	E9PKX1;Q5TAX3	.;TUT4_HUMAN	A	899;899;828;658	ENSP00000257177:V899A;ENSP00000360599:V899A;ENSP00000433486:V828A;ENSP00000435256:V658A	ENSP00000257177:V899A	V	-	2	0	ZCCHC11	52713123	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.936000	0.70153	2.071000	0.62044	0.455000	0.32223	GTG	ZCCHC11	-	NULL	ENSG00000134744		0.363	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	-	0.00	44	0	A	XM_038288		52940535	-1	tier1	-	no_errors	ENST00000257177	ensembl	human	known	74_37	missense	50.00	16	16	SNP	1.000	G
ZCCHC4	29063	genome.wustl.edu	37	4	25335610	25335610	+	Splice_Site	SNP	G	G	T	rs577915732		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:25335610G>T	ENST00000302874.4	+	5	710	c.686G>T	c.(685-687)cGg>cTg	p.R229L	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	229							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				ATTGATTTTCGGTAGGTTTAC	0.313																																																	0													101.0	97.0	98.0					4																	25335610		1814	4078	5892	SO:0001630	splice_region_variant	0			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.686+1G>T	4.37:g.25335610G>T			B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	pfam_Znf_GRF,pfam_N6_adenine_Mtase-rel_euk,pfscan_Znf_DHHC_palmitoyltrfase	p.R229L	ENST00000302874.4	37	c.686	CCDS43218.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731057	0.89390	.	.	ENSG00000168228	ENST00000302874	T	0.60171	0.21	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82410	-0.0471	10	0.72032	D	0.01	-5.5879	19.5833	0.95478	0.0:0.0:1.0:0.0	.	229	Q9H5U6	ZCHC4_HUMAN	L	229	ENSP00000303468:R229L	ENSP00000303468:R229L	R	+	2	0	ZCCHC4	24944708	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.808000	0.91939	2.703000	0.92315	0.655000	0.94253	CGG	ZCCHC4	-	pfam_N6_adenine_Mtase-rel_euk	ENSG00000168228		0.313	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC4	HGNC	protein_coding	OTTHUMT00000361151.1	-	0.00	74	0	G		Missense_Mutation	25335610	+1	tier1	-	no_errors	ENST00000302874	ensembl	human	known	74_37	missense	25.00	47	16	SNP	1.000	T
ZCCHC6	79670	genome.wustl.edu	37	9	88932151	88932151	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:88932151A>G	ENST00000375963.3	-	17	3429	c.3257T>C	c.(3256-3258)gTc>gCc	p.V1086A	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.V850A|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.V24A|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.V375A|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.V1086A	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1086					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTTTCTGAGGACTCTTGCTAA	0.363																																																	0													88.0	93.0	91.0					9																	88932151		2203	4300	6503	SO:0001583	missense	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3257T>C	9.37:g.88932151A>G	ENSP00000365130:p.Val1086Ala		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V1086A	ENST00000375963.3	37	c.3257	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306467	0.40795	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	4.73	4.73	0.59995	.	0.500214	0.21004	N	0.081818	T	0.26484	0.0647	N	0.11427	0.14	0.34870	D	0.743471	B;B;B	0.27416	0.005;0.178;0.0	B;B;B	0.30782	0.006;0.12;0.003	T	0.33777	-0.9855	10	0.23302	T	0.38	-19.1904	14.3451	0.66654	1.0:0.0:0.0:0.0	.	1086;850;1086	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	A	375;850;1086;24;1086	ENSP00000277141:V375A;ENSP00000365127:V850A;ENSP00000365128:V1086A;ENSP00000365124:V24A;ENSP00000365130:V1086A	ENSP00000277141:V375A	V	-	2	0	ZCCHC6	88121971	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.955000	0.63638	2.127000	0.65507	0.533000	0.62120	GTC	ZCCHC6	-	NULL	ENSG00000083223		0.363	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	-	0.00	86	0	A	NM_024617		88932151	-1	tier1	-	no_errors	ENST00000375963	ensembl	human	known	74_37	missense	15.28	61	11	SNP	1.000	G
ZCCHC6	79670	genome.wustl.edu	37	9	88937823	88937823	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:88937823delA	ENST00000375963.3	-	13	3014	c.2842delT	c.(2842-2844)tatfs	p.Y948fs	ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.Y825fs|ZCCHC6_ENST00000277141.6_Frame_Shift_Del_p.Y237fs|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.Y948fs	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	948					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTGAATTCATAAAAAAAATCA	0.333																																																	0													51.0	55.0	53.0					9																	88937823		2203	4300	6503	SO:0001589	frameshift_variant	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2842delT	9.37:g.88937823delA	ENSP00000365130:p.Tyr948fs		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Frame_Shift_Del	DEL	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Y948fs	ENST00000375963.3	37	c.2842	CCDS35057.1	9																																																																																			ZCCHC6	-	NULL	ENSG00000083223		0.333	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1		0.00	35	0	A	NM_024617		88937823	-1	tier1		no_errors	ENST00000375963	ensembl	human	known	74_37	frame_shift_del	29.17	17	7	DEL	1.000	-
ZCRB1	85437	genome.wustl.edu	37	12	42707711	42707711	+	Silent	SNP	C	C	T	rs141493486		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:42707711C>T	ENST00000266529.3	-	6	594	c.411G>A	c.(409-411)aaG>aaA	p.K137K	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Silent_p.K96K	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	137	Poly-Lys.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K137K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TCTTTTTTTTCTTTTTTTCTT	0.343																																																	1	Substitution - coding silent(1)	skin(1)											62.0	62.0	62.0					12																	42707711		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.411G>A	12.37:g.42707711C>T			Q6PJX0|Q96TA6	Silent	SNP	pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.K137	ENST00000266529.3	37	c.411	CCDS8740.1	12																																																																																			ZCRB1	-	NULL	ENSG00000139168		0.343	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCRB1	HGNC	protein_coding	OTTHUMT00000403813.1		0.00	86	0	C	NM_033114		42707711	-1			no_errors	ENST00000266529	ensembl	human	known	74_37	silent	5.56	51	3	SNP	1.000	T
ZCWPW1	55063	genome.wustl.edu	37	7	100016812	100016812	+	Splice_Site	SNP	C	C	A	rs534015238		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:100016812C>A	ENST00000398027.2	-	5	530	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	ZCWPW1_ENST00000360951.4_Splice_Site_p.E95*|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	95							zinc ion binding (GO:0008270)	p.E95K(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTGATTTTTCCTGCAGAGAC	0.443																																																	1	Substitution - Missense(1)	prostate(1)											109.0	102.0	104.0					7																	100016812		1879	4103	5982	SO:0001630	splice_region_variant	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.283-1G>T	7.37:g.100016812C>A			A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Nonsense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW	p.E95*	ENST00000398027.2	37	c.283	CCDS43623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.753312|4.753312	0.89753|0.89753	.|.	.|.	ENSG00000078487|ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559|ENST00000472716	.|.	.|.	.|.	5.37|5.37	3.46|3.46	0.39613|0.39613	.|.	0.816880|.	0.10592|.	N|.	0.656642|.	.|T	.|0.56529	.|0.1991	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53063	.|-0.8491	.|4	.|.	.|.	.|.	-1.4541|-1.4541	7.6841|7.6841	0.28530|0.28530	0.0:0.7407:0.1666:0.0927|0.0:0.7407:0.1666:0.0927	.|.	.|.	.|.	.|.	X|S	95|24	.|.	.|.	E|R	-|-	1|3	0|2	ZCWPW1|ZCWPW1	99854748|99854748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	1.492000|1.492000	0.35594|0.35594	1.403000|1.403000	0.46800|0.46800	0.563000|0.563000	0.77884|0.77884	GAA|AGG	ZCWPW1	-	NULL	ENSG00000078487		0.443	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	-	0.00	45	0	C	NM_017984	Nonsense_Mutation	100016812	-1	tier1	-	no_errors	ENST00000398027	ensembl	human	known	74_37	nonsense	21.43	44	12	SNP	0.995	A
ZDBF2	57683	genome.wustl.edu	37	2	207174428	207174428	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:207174428delA	ENST00000374423.3	+	5	5562	c.5176delA	c.(5176-5178)aaafs	p.K1728fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1728							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGGGCTGATAAAAAAAAACG	0.453																																																	0													73.0	71.0	72.0					2																	207174428		1869	4105	5974	SO:0001589	frameshift_variant	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5176delA	2.37:g.207174428delA	ENSP00000363545:p.Lys1728fs		Q6ZNP7|Q6ZSN8	Frame_Shift_Del	DEL	pfam_Znf_DBF,smart_Znf_DBF	p.K1728fs	ENST00000374423.3	37	c.5176	CCDS46501.1	2																																																																																			ZDBF2	-	NULL	ENSG00000204186		0.453	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1		0.00	25	0	A	NM_020923		207174428	+1	tier1		no_errors	ENST00000374423	ensembl	human	known	74_37	frame_shift_del	13.51	32	5	DEL	0.000	-
ZDHHC11B	653082	genome.wustl.edu	37	5	756154	756154	+	Missense_Mutation	SNP	T	T	C	rs562292264		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:756154T>C	ENST00000382776.4	-	2	327	c.328A>G	c.(328-330)Atg>Gtg	p.M110V	ZDHHC11_ENST00000424784.2_Intron|ZDHHC11B_ENST00000508859.2_Missense_Mutation_p.M121V			P0C7U3	ZH11B_HUMAN	zinc finger, DHHC-type containing 11B	110						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			lung(3)|stomach(1)	4						AAGAGGGGCATGGGCTGAGAA	0.592																																																	0																																										SO:0001583	missense	0					5p15.33	2007-01-29				ENSG00000206077		"""Zinc fingers, DHHC-type"""	32962	protein-coding gene	gene with protein product							Standard	XM_003118532		Approved			P0C7U3		ENST00000382776.4:c.328A>G	5.37:g.756154T>C	ENSP00000445280:p.Met110Val		A6NHR3	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.M110V	ENST00000382776.4	37	c.328		5	.	.	.	.	.	.	.	.	.	.	-	0.316	-0.965040	0.02249	.	.	ENSG00000206077	ENST00000508859;ENST00000382776	T;T	0.19669	2.13;2.13	3.58	-7.16	0.01516	.	2.270670	0.03730	N	0.253362	T	0.09468	0.0233	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15321	-1.0441	7	0.27082	T	0.32	-2.7535	0.5096	0.00593	0.2504:0.275:0.2541:0.2205	.	.	.	.	V	121;110	ENSP00000442373:M121V;ENSP00000445280:M110V	ENSP00000445280:M110V	M	-	1	0	ZDHHC11B	809154	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.076000	0.00616	-2.704000	0.00397	-0.761000	0.03458	ATG	ZDHHC11B	-	NULL	ENSG00000206077		0.592	ZDHHC11B-201	KNOWN	basic|appris_candidate	protein_coding	ZDHHC11B	HGNC	protein_coding		-	0.00	46	0	T	XM_926053		756154	-1	tier1	-	no_errors	ENST00000382776	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.012	C
ZDHHC8	29801	genome.wustl.edu	37	22	20132832	20132833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:20132832_20132833insC	ENST00000334554.7	+	11	2348_2349	c.2207_2208insC	c.(2206-2211)ggccccfs	p.GP736fs	ZDHHC8_ENST00000405930.3_Intron|ZDHHC8_ENST00000320602.7_Frame_Shift_Ins_p.GP644fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	736					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCTGCCACCGGCCCCCCAGGGC	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.2213dupC	22.37:g.20132838_20132838dupC	ENSP00000334490:p.Gly736fs		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Frame_Shift_Ins	INS	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.G739fs	ENST00000334554.7	37	c.2207_2208	CCDS13776.1	22																																																																																			ZDHHC8	-	NULL	ENSG00000099904		0.639	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC8	HGNC	protein_coding	OTTHUMT00000318564.1		0.00	33	0	-	NM_013373		20132833	+1	tier1		no_errors	ENST00000334554	ensembl	human	known	74_37	frame_shift_ins	28.21	28	11	INS	1.000:1.000	C
ZFAND4	93550	genome.wustl.edu	37	10	46121407	46121409	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:46121407_46121409delCTC	ENST00000344646.5	-	7	2077_2079	c.1862_1864delGAG	c.(1861-1866)ggagtt>gtt	p.G621del	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_In_Frame_Del_p.G547del|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	621							zinc ion binding (GO:0008270)										ACCAAAAAAACTCCTGTATGTTC	0.374																																																	0																																										SO:0001651	inframe_deletion	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1862_1864delGAG	10.37:g.46121407_46121409delCTC	ENSP00000339484:p.Gly621del		A8K8V4|B2RAX2|Q5VVY5	In_Frame_Del	DEL	pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.G621in_frame_del	ENST00000344646.5	37	c.1864_1862	CCDS7214.1	10																																																																																			ZFAND4	-	NULL	ENSG00000172671		0.374	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1		0.00	47	0	CTC	NM_174890		46121409	-1	tier1		no_errors	ENST00000344646	ensembl	human	known	74_37	in_frame_del	20.45	35	9	DEL	0.020:0.001:0.690	-
ZFAND4	93550	genome.wustl.edu	37	10	46143826	46143826	+	Missense_Mutation	SNP	C	C	T	rs573366778		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:46143826C>T	ENST00000344646.5	-	5	700	c.485G>A	c.(484-486)gGc>gAc	p.G162D	ZFAND4_ENST00000374371.2_Missense_Mutation_p.G162D|ZFAND4_ENST00000374366.3_Missense_Mutation_p.G88D|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	162							zinc ion binding (GO:0008270)										TGTTAAAGTGCCATCTCCCCT	0.398																																																	0													158.0	146.0	150.0					10																	46143826		2203	4300	6503	SO:0001583	missense	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.485G>A	10.37:g.46143826C>T	ENSP00000339484:p.Gly162Asp		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.G162D	ENST00000344646.5	37	c.485	CCDS7214.1	10	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652123	0.88056	.	.	ENSG00000172671	ENST00000344646;ENST00000374371;ENST00000374366;ENST00000374376;ENST00000374370	T;T;T	0.62105	0.38;0.05;0.28	5.64	5.64	0.86602	.	0.406249	0.23561	N	0.046854	T	0.76751	0.4031	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76250	-0.3028	10	0.51188	T	0.08	-21.8462	17.1918	0.86881	0.0:1.0:0.0:0.0	.	162;162	Q5VVY4;Q86XD8	.;ANUB1_HUMAN	D	162;162;88;162;44	ENSP00000339484:G162D;ENSP00000363491:G162D;ENSP00000363486:G88D	ENSP00000339484:G162D	G	-	2	0	ANUBL1	45463832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.255000	0.78338	2.631000	0.89168	0.585000	0.79938	GGC	ZFAND4	-	NULL	ENSG00000172671		0.398	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	-	0.00	53	0	C	NM_174890		46143826	-1	tier1	-	no_errors	ENST00000344646	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	T
ZFHX2	85446	genome.wustl.edu	37	14	24004094	24004094	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:24004094C>T	ENST00000419474.3	-	2	796	c.441G>A	c.(439-441)gcG>gcA	p.A147A	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	147					adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						CCTTGATGCCCGCCTCACCCC	0.587																																																	0																																										SO:0001819	synonymous_variant	0			AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.441G>A	14.37:g.24004094C>T			Q9UPU6	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.A147	ENST00000419474.3	37	c.441	CCDS55907.1	14																																																																																			ZFHX2	-	NULL	ENSG00000136367		0.587	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	-	0.00	39	0	C	NM_014894		24004094	-1	tier1	-	no_errors	ENST00000419474	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.063	T
ZFP36L1	677	genome.wustl.edu	37	14	69262957	69262957	+	5'Flank	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:69262957delG	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000408913.2_Frame_Shift_Del_p.L19fs|ZFP36L1_ENST00000336440.3_5'Flank	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTTTGTGCAAGGGGGAAAGTG	0.607																																																	0													75.0	87.0	83.0					14																	69262957		1754	3474	5228	SO:0001631	upstream_gene_variant	0			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262957delG	Exception_encountered		Q13851	Frame_Shift_Del	DEL	NULL	p.A20fs	ENST00000439696.2	37	c.55	CCDS9791.1	14																																																																																			ZFP36L1	-	NULL	ENSG00000185650		0.607	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1		0.00	35	0	G			69262957	-1	tier1		no_errors	ENST00000408913	ensembl	human	known	74_37	frame_shift_del	26.32	28	10	DEL	0.000	-
ZFYVE26	23503	genome.wustl.edu	37	14	68229514	68229514	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:68229514G>A	ENST00000347230.4	-	33	6172	c.6034C>T	c.(6034-6036)Ctg>Ttg	p.L2012L	ZFYVE26_ENST00000555452.1_Silent_p.L2012L|ZFYVE26_ENST00000557306.1_5'Flank	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2012					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAAATATTCAGCACATCTACC	0.488																																																	0													75.0	67.0	70.0					14																	68229514		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6034C>T	14.37:g.68229514G>A			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L2012	ENST00000347230.4	37	c.6034	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL	ENSG00000072121		0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2		0.00	30	0	G	NM_015346		68229514	-1			no_errors	ENST00000347230	ensembl	human	known	74_37	silent	8.70	21	2	SNP	1.000	A
ZFYVE1	53349	genome.wustl.edu	37	14	73442396	73442396	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:73442396C>T	ENST00000556143.1	-	9	2389	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.A557T|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.A543T|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.A142T|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.A142T|ZFYVE1_ENST00000554145.1_5'UTR	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	557					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AGGCGCTGGGCAGCATTGTTG	0.532																																																	0													115.0	93.0	100.0					14																	73442396		2203	4300	6503	SO:0001583	missense	0			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1669G>A	14.37:g.73442396C>T	ENSP00000450742:p.Ala557Thr		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.A557T	ENST00000556143.1	37	c.1669	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.848620	0.97023	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.71103	-0.54;-0.54;-0.53;-0.36;-0.36	6.17	6.17	0.99709	Zinc finger, FYVE/PHD-type (1);	0.048468	0.85682	D	0.000000	D	0.85371	0.5681	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.999;0.986	D;P	0.70935	0.971;0.655	D	0.84972	0.0883	10	0.66056	D	0.02	-26.715	20.8794	0.99867	0.0:1.0:0.0:0.0	.	557;557	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	T	557;543;557;142;142	ENSP00000452442:A557T;ENSP00000326921:A543T;ENSP00000450742:A557T;ENSP00000377757:A142T;ENSP00000452232:A142T	ENSP00000326921:A557T	A	-	1	0	ZFYVE1	72512149	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC	ZFYVE1	-	superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt_N_dom	ENSG00000165861		0.532	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	-	0.00	35	0	C	NM_021260		73442396	-1	tier1	-	no_errors	ENST00000553891	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
ZHX2	22882	genome.wustl.edu	37	8	123963925	123963925	+	Missense_Mutation	SNP	G	G	A	rs373708916		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:123963925G>A	ENST00000314393.4	+	3	1010	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	59					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CAAAGAAAACGAAGTGATAGA	0.488																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)												0								G	LYS/GLU	0,4406		0,0,2203	70.0	64.0	66.0		175	5.4	1.0	8		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZHX2	NM_014943.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	59/838	123963925	1,13005	2203	4300	6503	SO:0001583	missense	0			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.175G>A	8.37:g.123963925G>A	ENSP00000314709:p.Glu59Lys			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.E59K	ENST00000314393.4	37	c.175	CCDS6336.1	8	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723062	0.48728	0.0	1.16E-4	ENSG00000178764	ENST00000314393	T	0.50548	0.74	5.39	5.39	0.77823	.	0.285014	0.38217	N	0.001766	T	0.44726	0.1307	L	0.56769	1.78	0.40955	D	0.984576	P	0.36483	0.555	B	0.24974	0.057	T	0.53229	-0.8468	10	0.62326	D	0.03	-11.3266	19.1372	0.93433	0.0:0.0:1.0:0.0	.	59	Q9Y6X8	ZHX2_HUMAN	K	59	ENSP00000314709:E59K	ENSP00000314709:E59K	E	+	1	0	ZHX2	124033106	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	8.908000	0.92640	2.531000	0.85337	0.455000	0.32223	GAA	ZHX2	-	NULL	ENSG00000178764		0.488	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	-	0.00	36	0	G	NM_014943		123963925	+1	tier1	-	no_errors	ENST00000314393	ensembl	human	known	74_37	missense	26.09	34	12	SNP	0.903	A
ZHX1	11244	genome.wustl.edu	37	8	124266180	124266180	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:124266180A>G	ENST00000522655.1	-	3	2547	c.2007T>C	c.(2005-2007)ccT>ccC	p.P669P	ZHX1_ENST00000297857.2_Silent_p.P669P|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Silent_p.P669P|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	669					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGCTGCTCAGGTGTTTTTT	0.473																																																	0													112.0	107.0	109.0					8																	124266180		2203	4300	6503	SO:0001819	synonymous_variant	0			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.2007T>C	8.37:g.124266180A>G			Q8IWD8	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P669	ENST00000522655.1	37	c.2007	CCDS6342.1	8	.	.	.	.	.	.	.	.	.	.	A	4.351	0.064701	0.08388	.	.	ENSG00000165156	ENST00000520474	.	.	.	5.5	-11.0	0.00169	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52139	-0.8615	4	.	.	.	-7.5012	3.4769	0.07587	0.0949:0.2454:0.3471:0.3126	.	.	.	.	P	354	.	.	L	-	2	0	ZHX1	124335361	0.000000	0.05858	0.021000	0.16686	0.966000	0.64601	-4.013000	0.00313	-3.889000	0.00094	-0.388000	0.06559	CTG	ZHX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000165156		0.473	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	-	0.00	44	0	A			124266180	-1	tier1	-	no_errors	ENST00000297857	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.001	G
ZKSCAN5	23660	genome.wustl.edu	37	7	99103706	99103706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:99103706delC	ENST00000394170.2	+	2	290	c.39delC	c.(37-39)gacfs	p.D13fs	ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.D13fs|ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.D13fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGACTTAGACCCCCCAGCTG	0.483																																																	0													85.0	88.0	87.0					7																	99103706		2203	4300	6503	SO:0001589	frameshift_variant	0			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.39delC	7.37:g.99103706delC	ENSP00000377725:p.Asp13fs		A4D280|D6W5S9	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P15fs	ENST00000394170.2	37	c.39	CCDS5667.1	7																																																																																			ZKSCAN5	-	NULL	ENSG00000196652		0.483	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1		0.00	50	0	C	NM_014569		99103706	+1	tier1		no_errors	ENST00000326775	ensembl	human	known	74_37	frame_shift_del	18.18	36	8	DEL	0.980	-
ZMAT1	84460	genome.wustl.edu	37	X	101138439	101138440	+	3'UTR	DEL	TT	TT	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:101138439_101138440delTT	ENST00000372782.3	-	0	2006_2007				ZMAT1_ENST00000540921.1_3'UTR|ZMAT1_ENST00000458570.1_3'UTR|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ATATTGACTGTTTTTTTTTTTC	0.337																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.*43AA>-	X.37:g.101138447_101138448delTT			Q8NDS3|Q96JN6	RNA	DEL	-	NULL	ENST00000372782.3	37	NULL	CCDS35348.1	X																																																																																			ZMAT1	-	-	ENSG00000166432		0.337	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1		0.00	33	0	TT			101138440	-1	tier1		no_errors	ENST00000494068	ensembl	human	known	74_37	rna	20.83	19	5	DEL	0.000:0.000	-
ZMIZ1	57178	genome.wustl.edu	37	10	80968093	80968093	+	Splice_Site	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:80968093C>T	ENST00000334512.5	+	6	633	c.61C>T	c.(61-63)Cac>Tac	p.H21Y		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	21					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TTTCCCACAGCACTTACAGAA	0.627																																																	0													65.0	53.0	57.0					10																	80968093		2203	4300	6503	SO:0001630	splice_region_variant	0			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.61-1C>T	10.37:g.80968093C>T			Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.H21Y	ENST00000334512.5	37	c.61	CCDS7357.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906745	0.92107	.	.	ENSG00000108175	ENST00000334512;ENST00000394592	T	0.32753	1.44	5.23	5.23	0.72850	.	.	.	.	.	T	0.48429	0.1499	L	0.60455	1.87	0.80722	D	1	P;D	0.62365	0.818;0.991	B;P	0.59056	0.069;0.851	T	0.37842	-0.9688	8	.	.	.	-16.6158	17.5796	0.87963	0.0:1.0:0.0:0.0	.	21;21	Q9ULJ6;A0JLS3	ZMIZ1_HUMAN;.	Y	21	ENSP00000334474:H21Y	.	H	+	1	0	ZMIZ1	80638099	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.290000	0.78711	2.445000	0.82738	0.462000	0.41574	CAC	ZMIZ1	-	NULL	ENSG00000108175		0.627	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	-	0.00	32	0	C	NM_020338	Missense_Mutation	80968093	+1	tier1	-	no_errors	ENST00000334512	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T
ZMPSTE24	10269	genome.wustl.edu	37	1	40756543	40756543	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:40756543delT	ENST00000372759.3	+	9	1242	c.1077delT	c.(1075-1077)tgtfs	p.C359fs		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	359					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CTTTCCTGTGTTTTTTTTTAT	0.333																																																	0													140.0	134.0	136.0					1																	40756543		2201	4299	6500	SO:0001589	frameshift_variant	0			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.1077delT	1.37:g.40756543delT	ENSP00000361845:p.Cys359fs		B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Frame_Shift_Del	DEL	pfam_Peptidase_M48	p.L362fs	ENST00000372759.3	37	c.1077	CCDS449.1	1																																																																																			ZMPSTE24	-	pfam_Peptidase_M48	ENSG00000084073		0.333	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMPSTE24	HGNC	protein_coding	OTTHUMT00000015766.1		0.00	60	0	T			40756543	+1	tier1		no_errors	ENST00000372759	ensembl	human	known	74_37	frame_shift_del	19.30	46	11	DEL	1.000	-
ZMYM2	7750	genome.wustl.edu	37	13	20657094	20657094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:20657094delA	ENST00000382874.2	+	24	3932	c.3742delA	c.(3742-3744)aaafs	p.K1249fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.K1249fs|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.K1249fs|ZMYM2_ENST00000494061.2_3'UTR	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TAGGCATTGGAAAAAAAATCC	0.363																																																	0													99.0	92.0	94.0					13																	20657094		1859	4096	5955	SO:0001589	frameshift_variant	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3742delA	13.37:g.20657094delA	ENSP00000372327:p.Lys1249fs		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.N1250fs	ENST00000382874.2	37	c.3742	CCDS45016.1	13																																																																																			ZMYM2	-	pfam_DUF3504	ENSG00000121741		0.363	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2		0.00	46	0	A	NM_003453		20657094	+1	tier1		no_errors	ENST00000382869	ensembl	human	known	74_37	frame_shift_del	32.00	34	16	DEL	1.000	-
ZMYM3	9203	genome.wustl.edu	37	X	70470303	70470303	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:70470303delT	ENST00000353904.2	-	5	1239	c.1052delA	c.(1051-1053)aagfs	p.K351fs	ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.K351fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.K353fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.K353fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.K353fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.K351fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.K351fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	351					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGTACAGGTCTTTTTGCCCGA	0.562																																																	0													36.0	30.0	32.0					X																	70470303		2203	4300	6503	SO:0001589	frameshift_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1052delA	X.37:g.70470303delT	ENSP00000343909:p.Lys351fs		D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.K353fs	ENST00000353904.2	37	c.1058	CCDS14409.1	X																																																																																			ZMYM3	-	pfam_Znf_MYM	ENSG00000147130		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1		0.00	94	0	T	NM_201599		70470303	-1	tier1		no_errors	ENST00000373988	ensembl	human	known	74_37	frame_shift_del	43.86	32	25	DEL	1.000	-
ZNF12	7559	genome.wustl.edu	37	7	6731613	6731614	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:6731613_6731614delTG	ENST00000405858.1	-	5	1500_1501	c.959_960delCA	c.(958-960)acafs	p.T320fs	ZNF12_ENST00000342651.5_Frame_Shift_Del_p.T282fs|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Frame_Shift_Del_p.T246fs|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	320					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTTCTCCCCTGTGTGTGTTCT	0.46																																																	0																																										SO:0001589	frameshift_variant	0			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.959_960delCA	7.37:g.6731619_6731620delTG	ENSP00000385939:p.Thr320fs		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T320fs	ENST00000405858.1	37	c.960_959	CCDS47538.1	7																																																																																			ZNF12	-	pfscan_Znf_C2H2	ENSG00000164631		0.460	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2		0.00	67	0	TG	NM_016265		6731614	-1	tier1		no_errors	ENST00000405858	ensembl	human	known	74_37	frame_shift_del	11.59	61	8	DEL	0.989:0.997	-
ZNF701	55762	genome.wustl.edu	37	19	53091853	53091853	+	IGR	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:53091853C>T	ENST00000540331.1	+	0	5538				ZNF137P_ENST00000597158.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GAGCCAGGGACGGCTCTTCCT	0.403																																					NSCLC(89;451 1475 9611 20673 52284)												0																																										SO:0001628	intergenic_variant	0			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72			19.37:g.53091853C>T			A2RRM8|B9EGF2|F5GZM6|Q66K42	RNA	SNP	-	NULL	ENST00000540331.1	37	NULL	CCDS54311.1	19																																																																																			ZNF137P	-	-	ENSG00000123870		0.403	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF137P	HGNC	protein_coding	OTTHUMT00000463467.1	-	0.00	14	0	C	NM_018260		53091853	+1	tier1	-	no_errors	ENST00000597158	ensembl	human	known	74_37	rna	38.46	16	10	SNP	0.101	T
ZNF142	7701	genome.wustl.edu	37	2	219508084	219508084	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:219508084delC	ENST00000449707.1	-	8	3576	c.3155delG	c.(3154-3156)ggafs	p.G1052fs	ZNF142_ENST00000411696.2_Frame_Shift_Del_p.G1052fs	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1052					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1052fs*20(1)|p.G889fs*20(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCGCCACGTCCCCCCCTGCA	0.607																																					Colon(170;867 1942 8995 15834 18053)												2	Deletion - Frameshift(2)	lung(2)											42.0	48.0	46.0					2																	219508084		1928	4115	6043	SO:0001589	frameshift_variant	0			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3155delG	2.37:g.219508084delC	ENSP00000408643:p.Gly1052fs		Q92510	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1052fs	ENST00000449707.1	37	c.3155	CCDS42817.1	2																																																																																			ZNF142	-	NULL	ENSG00000115568		0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1		0.00	60	0	C	NM_005081		219508084	-1	tier1		no_errors	ENST00000411696	ensembl	human	known	74_37	frame_shift_del	18.75	39	9	DEL	0.000	-
ZNF208	7757	genome.wustl.edu	37	19	22156673	22156673	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:22156673T>C	ENST00000397126.4	-	4	1311	c.1163A>G	c.(1162-1164)aAg>aGg	p.K388R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGAATTTTCTTATGATAACT	0.373																																																	0													33.0	37.0	36.0					19																	22156673		1991	4190	6181	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1163A>G	19.37:g.22156673T>C	ENSP00000380315:p.Lys388Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K388R	ENST00000397126.4	37	c.1163	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913208	0.33815	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.17854	2.25	2.65	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16981	0.0408	.	.	.	0.09310	N	1	P	0.35600	0.511	B	0.42882	0.401	T	0.19712	-1.0297	8	0.44086	T	0.13	.	5.3131	0.15841	0.0:0.1472:0.0:0.8528	.	388	O43345	ZN208_HUMAN	R	388	ENSP00000380315:K388R	ENSP00000380315:K388R	K	-	2	0	ZNF208	21948513	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.643000	0.05421	0.856000	0.35383	0.254000	0.18369	AAG	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0.00	63	0	T	NM_007153		22156673	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	18.52	44	10	SNP	0.006	C
ZNF223	7766	genome.wustl.edu	37	19	44571252	44571253	+	Frame_Shift_Ins	INS	-	-	A	rs183080513|rs562593501		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:44571252_44571253insA	ENST00000434772.3	+	5	1526_1527	c.1271_1272insA	c.(1270-1275)cgaaaafs	p.RK424fs	ZNF223_ENST00000591793.1_Frame_Shift_Ins_p.RK534fs	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTCCATTGCCGAAAAAAACCAT	0.411																																																	0										2,4254		0,2,2126						1.4	0.0			105	8,8240		0,8,4116	no	frameshift	ZNF223	NM_013361.4		0,10,6242	A1A1,A1R,RR		0.097,0.047,0.08				10,12494				SO:0001589	frameshift_variant	0			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1278dupA	19.37:g.44571259_44571259dupA	ENSP00000401947:p.Arg424fs		Q15736|Q8TBJ3|Q9HCA9	Frame_Shift_Ins	INS	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P537fs	ENST00000434772.3	37	c.1601_1602	CCDS12635.1	19																																																																																			ZNF223	-	pfscan_Znf_C2H2	ENSG00000267022		0.411	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF223	Uniprot_gn	protein_coding	OTTHUMT00000460469.2		0.00	38	0	-			44571253	+1	tier1		no_errors	ENST00000591793	ensembl	human	known	74_37	frame_shift_ins	21.21	26	7	INS	0.000:0.000	A
ZNF23	7571	genome.wustl.edu	37	16	71482629	71482629	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:71482629G>A	ENST00000393539.2	-	6	2112	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	ZNF23_ENST00000357254.4_Silent_p.S433S|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Silent_p.S433S|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_Silent_p.S375S|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000428724.2_Silent_p.S375S	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GCCGAAATTGGGAGTTACATC	0.468																																																	0													60.0	59.0	59.0					16																	71482629		2198	4300	6498	SO:0001819	synonymous_variant	0			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1299C>T	16.37:g.71482629G>A			Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S433	ENST00000393539.2	37	c.1299	CCDS10900.1	16																																																																																			ZNF23	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167377		0.468	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	-	0.00	77	0	G	NM_145911		71482629	-1	tier1	-	no_errors	ENST00000357254	ensembl	human	known	74_37	silent	34.21	50	26	SNP	0.001	A
ZNF236	7776	genome.wustl.edu	37	18	74583780	74583780	+	Splice_Site	SNP	A	A	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:74583780A>C	ENST00000253159.8	+	5	858	c.660A>C	c.(658-660)acA>acC	p.T220T	ZNF236_ENST00000583095.1_Intron|ZNF236_ENST00000320610.9_Splice_Site_p.T222T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	220					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGATACACACAGGTATGAAAA	0.478																																																	0													112.0	102.0	105.0					18																	74583780		2041	4193	6234	SO:0001630	splice_region_variant	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.661+1A>C	18.37:g.74583780A>C			B2RTX9|Q9UL37	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T220	ENST00000253159.8	37	c.660	CCDS42447.1	18																																																																																			ZNF236	-	pfscan_Znf_C2H2	ENSG00000130856		0.478	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1		0.00	38	0	A		Silent	74583780	+1			no_errors	ENST00000253159	ensembl	human	known	74_37	silent	13.51	32	5	SNP	1.000	C
ZNF251	90987	genome.wustl.edu	37	8	145947906	145947906	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145947906T>A	ENST00000292562.7	-	5	1414	c.1139A>T	c.(1138-1140)aAt>aTt	p.N380I	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CCCACACTGATTGCATTTATG	0.498																																																	0													102.0	114.0	110.0					8																	145947906		2188	4297	6485	SO:0001583	missense	0			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1139A>T	8.37:g.145947906T>A	ENSP00000292562:p.Asn380Ile		Q2M219	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N380I	ENST00000292562.7	37	c.1139	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759322	0.49468	.	.	ENSG00000198169	ENST00000292562	T	0.17691	2.26	2.71	-3.44	0.04796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10337	0.0253	L	0.38953	1.18	0.09310	N	1	B	0.33413	0.411	B	0.30495	0.116	T	0.20405	-1.0276	9	0.41790	T	0.15	-1.6742	4.7085	0.12861	0.0:0.3005:0.3249:0.3746	.	380	Q9BRH9	ZN251_HUMAN	I	380	ENSP00000292562:N380I	ENSP00000292562:N380I	N	-	2	0	ZNF251	145918715	0.000000	0.05858	0.311000	0.25182	0.987000	0.75469	-4.800000	0.00184	-0.920000	0.03799	-0.360000	0.07572	AAT	ZNF251	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198169		0.498	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	-	0.00	33	0	T	NM_138367		145947906	-1	tier1	-	no_errors	ENST00000292562	ensembl	human	known	74_37	missense	43.86	32	25	SNP	0.004	A
ZNF268	10795	genome.wustl.edu	37	12	133780995	133780995	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:133780995G>C	ENST00000536435.2	+	6	3053	c.2723G>C	c.(2722-2724)aGt>aCt	p.S908T	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.S747T|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.S908T	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	908					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCAATTCTCAGTGCACATCAG	0.413																																																	0													77.0	74.0	75.0					12																	133780995		692	1591	2283	SO:0001583	missense	0			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.2723G>C	12.37:g.133780995G>C	ENSP00000444412:p.Ser908Thr		Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S908T	ENST00000536435.2	37	c.2723	CCDS45012.1	12	.	.	.	.	.	.	.	.	.	.	G	0.423	-0.907463	0.02434	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565	T;T	0.18657	2.2;2.2	4.19	-1.67	0.08238	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06325	0.0163	N	0.04705	-0.18	0.09310	N	1	B	0.30326	0.276	B	0.23574	0.047	T	0.32666	-0.9898	8	.	.	.	.	0.2898	0.00257	0.2391:0.2809:0.1949:0.2852	.	908	Q14587	ZN268_HUMAN	T	908;908;747	ENSP00000228289:S908T;ENSP00000445713:S747T	.	S	+	2	0	ZNF268	.	0.000000	0.05858	0.867000	0.34043	0.983000	0.72400	-1.247000	0.02893	0.029000	0.15352	0.591000	0.81541	AGT	ZNF268	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000090612		0.413	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF268	HGNC	protein_coding	OTTHUMT00000397191.2	-	0.00	33	0	G	NM_152943		133780995	+1	tier1	-	no_errors	ENST00000228289	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.000	C
ZNF271	10778	genome.wustl.edu	37	18	32888075	32888078	+	RNA	DEL	AAAA	AAAA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:32888075_32888078delAAAA	ENST00000399070.3	+	0	2469_2472					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						ctgtctatttaaaaaaaaaaaaaa	0.382																																																	0																																												0			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32888083_32888086delAAAA			B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	DEL	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-	ENSG00000257267		0.382	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2		0.00	73	0	AAAA	NR_024565		32888078	+1	tier1		no_errors	ENST00000399070	ensembl	human	known	74_37	rna	14.06	55	9	DEL	0.019:0.042:0.052:0.054	-
ZNF277	11179	genome.wustl.edu	37	7	111967771	111967771	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:111967771G>T	ENST00000361822.3	+	6	686		c.e6-1		AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA|ZNF277_ENST00000450657.1_Splice_Site	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277						cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTTCTTCCTAGATCTGTTATT	0.323																																																	0													93.0	84.0	87.0					7																	111967771		2203	4300	6503	SO:0001630	splice_region_variant	0			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.558-1G>T	7.37:g.111967771G>T			Q75MZ2|Q75MZ3|Q8WY14	Splice_Site	SNP	-	e6-1	ENST00000361822.3	37	c.558-1	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298302	0.81025	.	.	ENSG00000198839	ENST00000361822;ENST00000425229;ENST00000450657	.	.	.	5.76	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6103	0.84881	0.0:0.0:0.8688:0.1312	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF277	111755007	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.739000	0.98837	1.554000	0.49487	0.655000	0.94253	.	ZNF277	-	-	ENSG00000198839		0.323	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2	-	0.00	47	0	G	NM_021994	Intron	111967771	+1	tier1	-	no_errors	ENST00000361822	ensembl	human	known	74_37	splice_site	16.67	40	8	SNP	1.000	T
ZNF280B	140883	genome.wustl.edu	37	22	22842653	22842653	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:22842653C>T	ENST00000406426.1	-	4	1813	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q	ZNF280B_ENST00000360412.2_Silent_p.Q357Q			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GACACTGTAGCTGGAAGGGAG	0.493																																																	0													144.0	132.0	136.0					22																	22842653		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1071G>A	22.37:g.22842653C>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q357	ENST00000406426.1	37	c.1071	CCDS13799.1	22																																																																																			ZNF280B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198477		0.493	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280B	HGNC	protein_coding	OTTHUMT00000321170.2	-	0.00	81	0	C	NM_080764		22842653	-1	tier1	-	no_errors	ENST00000360412	ensembl	human	known	74_37	silent	13.75	69	11	SNP	0.999	T
ZNF282	8427	genome.wustl.edu	37	7	148895518	148895518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:148895518C>T	ENST00000262085.3	+	2	364	c.259C>T	c.(259-261)Cga>Tga	p.R87*	ZNF282_ENST00000479907.1_Nonsense_Mutation_p.R87*	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	87					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CCGCATGATGCGAGAGCCCCA	0.602																																																	0													52.0	50.0	51.0					7																	148895518		2203	4300	6503	SO:0001587	stop_gained	0			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.259C>T	7.37:g.148895518C>T	ENSP00000262085:p.Arg87*		B4DRI5|O43691|Q6DKK0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R87*	ENST00000262085.3	37	c.259	CCDS5895.1	7	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860397	0.91433	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	.	.	.	4.26	0.27	0.15635	.	0.000000	0.42420	D	0.000705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2633	10.1471	0.42771	0.4747:0.5253:0.0:0.0	.	.	.	.	X	2;87;87	.	ENSP00000262085:R87X	R	+	1	2	ZNF282	148526451	0.973000	0.33851	0.982000	0.44146	0.863000	0.49368	0.463000	0.21972	0.282000	0.22254	0.313000	0.20887	CGA	ZNF282	-	NULL	ENSG00000170265		0.602	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF282	HGNC	protein_coding	OTTHUMT00000352746.1	-	0.00	42	0	C	NM_003575		148895518	+1	tier1	-	no_errors	ENST00000262085	ensembl	human	known	74_37	nonsense	24.44	34	11	SNP	0.983	T
ZNF292	23036	genome.wustl.edu	37	6	87966811	87966812	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:87966811_87966812insT	ENST00000369577.3	+	8	3507_3508	c.3464_3465insT	c.(3463-3468)tattttfs	p.YF1155fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.YF1150fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1155						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGTTTGTTTATTTTTTGCCAT	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3470dupT	6.37:g.87966817_87966817dupT	ENSP00000358590:p.Tyr1155fs		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1157fs	ENST00000369577.3	37	c.3464_3465	CCDS47457.1	6																																																																																			ZNF292	-	NULL	ENSG00000188994		0.411	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2		0.00	44	0	0	NM_015021		87966812	+1			no_errors	ENST00000369577	ensembl	human	known	74_37	frame_shift_ins	17.07	34	7	INS	0.998:1.000	T
ZNF320	162967	genome.wustl.edu	37	19	53391430	53391430	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:53391430G>A	ENST00000595635.1	-	7	593	c.92C>T	c.(91-93)aCt>aTt	p.T31I	ZNF320_ENST00000391781.2_Missense_Mutation_p.T31I|ZNF320_ENST00000597909.1_Missense_Mutation_p.T31I|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTGTATAGAGTCCTCTGAGC	0.493																																																	0													38.0	38.0	38.0					19																	53391430		1460	2583	4043	SO:0001583	missense	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.92C>T	19.37:g.53391430G>A	ENSP00000473091:p.Thr31Ile		Q8NDR6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T31I	ENST00000595635.1	37	c.92	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	8.294	0.818454	0.16607	.	.	ENSG00000182986	ENST00000391781	T	0.01933	4.55	1.98	-1.06	0.10002	Krueppel-associated box (4);	.	.	.	.	T	0.02380	0.0073	L	0.45137	1.4	0.09310	N	1	P	0.52842	0.956	B	0.42555	0.391	T	0.49341	-0.8950	9	0.37606	T	0.19	.	6.6113	0.22753	0.0:0.0:0.3575:0.6424	.	31	A2RRD8	ZN320_HUMAN	I	31	ENSP00000375660:T31I	ENSP00000375660:T31I	T	-	2	0	ZNF320	58083242	0.000000	0.05858	0.013000	0.15412	0.494000	0.33585	0.496000	0.22499	0.137000	0.18759	0.194000	0.17425	ACT	ZNF320	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000182986		0.493	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	-	0.00	88	0	G	NM_207333		53391430	-1	tier1	-	no_errors	ENST00000391781	ensembl	human	known	74_37	missense	20.25	63	16	SNP	0.005	A
ZNF326	284695	genome.wustl.edu	37	1	90484280	90484280	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:90484280C>T	ENST00000340281.4	+	9	1254	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	ZNF326_ENST00000370447.3_Missense_Mutation_p.R282C|ZNF326_ENST00000455342.2_Missense_Mutation_p.R165C	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	371					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AACATCTATTCGTAAGCAACA	0.259																																																	0													54.0	60.0	58.0					1																	90484280		2199	4287	6486	SO:0001583	missense	0			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1111C>T	1.37:g.90484280C>T	ENSP00000340796:p.Arg371Cys		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	pfam_AKAP95	p.R371C	ENST00000340281.4	37	c.1111	CCDS727.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422011	0.83559	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.50001	0.76;0.76;0.76	5.56	5.56	0.83823	.	0.118073	0.64402	D	0.000014	T	0.63674	0.2531	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65492	-0.6155	10	0.66056	D	0.02	-8.8962	19.1298	0.93400	0.0:1.0:0.0:0.0	.	371;371	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	C	371;371;282;165	ENSP00000340796:R371C;ENSP00000359476:R282C;ENSP00000403470:R165C	ENSP00000340796:R371C	R	+	1	0	ZNF326	90256868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.620000	0.88729	0.650000	0.86243	CGT	ZNF326	-	pfam_AKAP95	ENSG00000162664		0.259	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	HGNC	protein_coding	OTTHUMT00000029428.2	-	0.00	45	0	C	NM_181781		90484280	+1	tier1	-	no_errors	ENST00000340281	ensembl	human	known	74_37	missense	30.91	38	17	SNP	1.000	T
ZNF335	63925	genome.wustl.edu	37	20	44588005	44588005	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:44588005G>A	ENST00000322927.2	-	15	2188	c.2088C>T	c.(2086-2088)caC>caT	p.H696H	ZNF335_ENST00000426788.1_Silent_p.H541H	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	696					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGCACCGTACGTGCAGGCGCA	0.632																																																	0													55.0	44.0	48.0					20																	44588005		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2088C>T	20.37:g.44588005G>A			B4DLG7|Q548D0|Q9H684	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H696	ENST00000322927.2	37	c.2088	CCDS13389.1	20																																																																																			ZNF335	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198026		0.632	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	-	0.00	54	0	G	NM_022095		44588005	-1	tier1	-	no_errors	ENST00000322927	ensembl	human	known	74_37	silent	33.33	28	14	SNP	0.990	A
ZNF34	80778	genome.wustl.edu	37	8	145999587	145999587	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145999587delT	ENST00000343459.4	-	6	812	c.747delA	c.(745-747)aaafs	p.K249fs	ZNF34_ENST00000429371.2_Frame_Shift_Del_p.K228fs			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K249fs*75(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		AATAATGCAATTTTTTCCCAG	0.393																																																	1	Deletion - Frameshift(1)	large_intestine(1)											56.0	57.0	57.0					8																	145999587		2038	4230	6268	SO:0001589	frameshift_variant	0			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.747delA	8.37:g.145999587delT	ENSP00000341528:p.Lys249fs		D3DWN1|Q9BSZ0	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K249fs	ENST00000343459.4	37	c.747	CCDS47945.1	8																																																																																			ZNF34	-	NULL	ENSG00000196378		0.393	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1		0.00	70	0	T	NM_030580		145999587	-1	tier1		no_errors	ENST00000343459	ensembl	human	known	74_37	frame_shift_del	19.23	63	15	DEL	0.001	-
ZNF384	171017	genome.wustl.edu	37	12	6788170	6788170	+	Silent	SNP	C	C	T	rs139381786		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:6788170C>T	ENST00000396801.3	-	4	453	c.246G>A	c.(244-246)gcG>gcA	p.A82A	ZNF384_ENST00000355772.4_Silent_p.A82A|ZNF384_ENST00000396799.2_Silent_p.A82A|ZNF384_ENST00000319770.3_Silent_p.A82A|ZNF384_ENST00000396795.1_Silent_p.A82A|ZNF384_ENST00000361959.3_Silent_p.A82A	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	82					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGGTAACGGACGCTTGGCTGT	0.562			T	"""EWSR1, TAF15 """	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0								C	,,	2,4404	4.2+/-10.8	0,2,2201	181.0	169.0	173.0		246,246,246	-10.5	0.0	12	dbSNP_134	173	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF384	NM_001039920.2,NM_001135734.2,NM_133476.4	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	82/462,82/578,82/517	6788170	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.246G>A	12.37:g.6788170C>T			O15407|Q7Z722|Q8N938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A82	ENST00000396801.3	37	c.246	CCDS44817.1	12																																																																																			ZNF384	-	NULL	ENSG00000126746		0.562	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1		0.00	21	0	C			6788170	-1			no_errors	ENST00000361959	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.005	T
ZNF407	55628	genome.wustl.edu	37	18	72589289	72589289	+	Missense_Mutation	SNP	G	G	A	rs369381731		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:72589289G>A	ENST00000299687.5	+	4	5014	c.5014G>A	c.(5014-5016)Gca>Aca	p.A1672T	ZNF407_ENST00000577538.1_Missense_Mutation_p.A1672T|ZNF407_ENST00000584235.1_3'UTR	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1672					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A1672S(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CACAGCCTCCGCAATGAAAGA	0.567																																																	1	Substitution - Missense(1)	prostate(1)						G	THR/ALA,THR/ALA	1,3927		0,1,1963	98.0	99.0	99.0		5014,5014	5.9	1.0	18		99	0,8308		0,0,4154	no	missense,missense	ZNF407	NM_001146189.1,NM_017757.2	58,58	0,1,6117	AA,AG,GG		0.0,0.0255,0.0082	probably-damaging,probably-damaging	1672/1816,1672/2249	72589289	1,12235	1964	4154	6118	SO:0001583	missense	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5014G>A	18.37:g.72589289G>A	ENSP00000299687:p.Ala1672Thr		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.A1672T	ENST00000299687.5	37	c.5014	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	27.1	4.795930	0.90453	2.55E-4	0.0	ENSG00000215421	ENST00000299687	T	0.15139	2.45	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000015	T	0.29976	0.0750	N	0.25825	0.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01570	-1.1322	10	0.22109	T	0.4	.	18.5139	0.90928	0.0:0.0:1.0:0.0	.	1672;1672	Q9C0G0-2;Q9C0G0	.;ZN407_HUMAN	T	1672	ENSP00000299687:A1672T	ENSP00000299687:A1672T	A	+	1	0	ZNF407	70718277	1.000000	0.71417	0.960000	0.40013	0.909000	0.53808	9.447000	0.97595	2.818000	0.97014	0.591000	0.81541	GCA	ZNF407	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000215421		0.567	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	-	0.00	34	0	G	NM_017757		72589289	+1	tier1	-	no_errors	ENST00000299687	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	A
ZNF407	55628	genome.wustl.edu	37	18	72632566	72632566	+	Silent	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:72632566C>A	ENST00000299687.5	+	7	5346	c.5346C>A	c.(5344-5346)acC>acA	p.T1782T	ZNF407_ENST00000577538.1_Silent_p.T1782T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1782					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACTACGGGACCAACGTCCCGG	0.493																																																	0													81.0	81.0	81.0					18																	72632566		1983	4172	6155	SO:0001819	synonymous_variant	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5346C>A	18.37:g.72632566C>A			B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.T1782	ENST00000299687.5	37	c.5346	CCDS45885.1	18																																																																																			ZNF407	-	smart_Znf_C2H2-like	ENSG00000215421		0.493	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	-	0.00	44	0	C	NM_017757		72632566	+1	tier1	-	no_errors	ENST00000299687	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	A
ZNF416	55659	genome.wustl.edu	37	19	58083744	58083744	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:58083744C>T	ENST00000196489.3	-	4	1750	c.1528G>A	c.(1528-1530)Gtt>Att	p.V510I		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TGGTGTTCAACGAGGGTATAG	0.428																																																	0													94.0	94.0	94.0					19																	58083744		2203	4300	6503	SO:0001583	missense	0			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1528G>A	19.37:g.58083744C>T	ENSP00000196489:p.Val510Ile		Q9NWW8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V510I	ENST00000196489.3	37	c.1528	CCDS12954.1	19	.	.	.	.	.	.	.	.	.	.	C	3.646	-0.072618	0.07228	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.07688	3.17	3.58	-0.0601	0.13790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	N	0.05124	-0.11	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.45425	-0.9262	9	0.02654	T	1	.	8.41	0.32638	0.0:0.5317:0.0:0.4683	.	510	Q9BWM5	ZN416_HUMAN	I	510;413;408	ENSP00000196489:V510I	ENSP00000196489:V510I	V	-	1	0	ZNF416	62775556	0.000000	0.05858	0.000000	0.03702	0.789000	0.44602	0.073000	0.14640	-0.174000	0.10743	-0.140000	0.14226	GTT	ZNF416	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083817		0.428	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF416	HGNC	protein_coding	OTTHUMT00000466787.1	-	0.00	86	0	C	NM_017879		58083744	-1	tier1	rs147696919	no_errors	ENST00000196489	ensembl	human	known	74_37	missense	29.58	50	21	SNP	0.000	T
ZNF423	23090	genome.wustl.edu	37	16	49669799	49669799	+	Silent	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:49669799G>T	ENST00000561648.1	-	4	3317	c.3264C>A	c.(3262-3264)ccC>ccA	p.P1088P	ZNF423_ENST00000562871.1_Silent_p.P1028P|ZNF423_ENST00000562520.1_Silent_p.P1028P|ZNF423_ENST00000567169.1_Silent_p.P971P|ZNF423_ENST00000535559.1_Silent_p.P971P|ZNF423_ENST00000262383.2_Silent_p.P1088P|ZNF423_ENST00000563137.2_Silent_p.P1028P	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1088					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGAGGCCGTAGGGCAGCCCAT	0.697																																																	0													20.0	19.0	19.0					16																	49669799		2195	4299	6494	SO:0001819	synonymous_variant	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3264C>A	16.37:g.49669799G>T			O94860|Q76N04|Q9NZ13	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1088	ENST00000561648.1	37	c.3264	CCDS32445.1	16																																																																																			ZNF423	-	NULL	ENSG00000102935		0.697	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0.00	53	0	G	NM_015069		49669799	-1	tier1	-	no_errors	ENST00000262383	ensembl	human	known	74_37	silent	9.09	70	7	SNP	1.000	T
ZNF467	168544	genome.wustl.edu	37	7	149462116	149462116	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:149462116C>T	ENST00000302017.3	-	5	1888	c.1475G>A	c.(1474-1476)tGc>tAc	p.C492Y	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGGCGGCCGCACTGAGCGCA	0.736																																																	0													11.0	12.0	12.0					7																	149462116		1854	3702	5556	SO:0001583	missense	0			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1475G>A	7.37:g.149462116C>T	ENSP00000304769:p.Cys492Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C492Y	ENST00000302017.3	37	c.1475	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076390	0.76415	.	.	ENSG00000181444	ENST00000302017	D	0.99974	-10.2	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	U	0.003045	D	0.99977	0.9993	H	0.94698	3.57	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.96530	0.9392	10	0.87932	D	0	-18.2867	15.504	0.75722	0.0:1.0:0.0:0.0	.	492	Q7Z7K2	ZN467_HUMAN	Y	492	ENSP00000304769:C492Y	ENSP00000304769:C492Y	C	-	2	0	ZNF467	149093049	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.373000	0.79623	1.989000	0.58080	0.462000	0.41574	TGC	ZNF467	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181444		0.736	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	-	0.00	46	0	C	NM_207336		149462116	-1	tier1	-	no_errors	ENST00000302017	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	T
ZNF469	84627	genome.wustl.edu	37	16	88498417	88498417	+	Silent	SNP	C	C	T	rs566977919		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:88498417C>T	ENST00000437464.1	+	2	4455	c.4455C>T	c.(4453-4455)agC>agT	p.S1485S	ZNF469_ENST00000565624.1_Silent_p.S1513S	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1485	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						TGCTGCCTAGCCATTTTCCTG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19399	0.0		0.0	False		,,,				2504	0.001																0													86.0	75.0	78.0					16																	88498417		692	1591	2283	SO:0001819	synonymous_variant	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.4455C>T	16.37:g.88498417C>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1485	ENST00000437464.1	37	c.4455	CCDS45544.1	16																																																																																			ZNF469	-	NULL	ENSG00000225614		0.602	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		-	0.00	31	0	C	NG_012236		88498417	+1	tier1	-	no_errors	ENST00000437464	ensembl	human	known	74_37	silent	26.92	19	7	SNP	0.002	T
ZNF471	57573	genome.wustl.edu	37	19	57035710	57035710	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:57035710G>A	ENST00000308031.5	+	5	407	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ATCTATATATGTGACACAGGA	0.343																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													71.0	69.0	70.0					19																	57035710		2203	4300	6503	SO:0001583	missense	0			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.274G>A	19.37:g.57035710G>A	ENSP00000309161:p.Val92Met		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V92M	ENST00000308031.5	37	c.274	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	G	6.985	0.551887	0.13374	.	.	ENSG00000196263	ENST00000308031	T	0.05139	3.49	3.19	1.07	0.20283	.	.	.	.	.	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	0.999991	B	0.11235	0.004	B	0.04013	0.001	T	0.43163	-0.9408	9	0.51188	T	0.08	.	2.3319	0.04238	0.2804:0.0:0.4753:0.2443	.	92	Q9BX82	ZN471_HUMAN	M	92	ENSP00000309161:V92M	ENSP00000309161:V92M	V	+	1	0	ZNF471	61727522	0.423000	0.25482	0.099000	0.21106	0.862000	0.49288	1.974000	0.40559	0.357000	0.24183	0.563000	0.77884	GTG	ZNF471	-	NULL	ENSG00000196263		0.343	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	-	0.00	100	0	G	NM_020813		57035710	+1	tier1	-	no_errors	ENST00000308031	ensembl	human	known	74_37	missense	35.37	53	29	SNP	0.074	A
ZNF470	388566	genome.wustl.edu	37	19	57089372	57089372	+	Silent	SNP	G	G	A	rs139141662	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:57089372G>A	ENST00000330619.8	+	6	2261	c.1575G>A	c.(1573-1575)gcG>gcA	p.A525A	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.A525A	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CACACCTCGCGCAACATCAGA	0.453													G|||	4	0.000798722	0.003	0.0	5008	,	,		21847	0.0		0.0	False		,,,				2504	0.0																0								G		10,4396	16.8+/-37.8	0,10,2193	69.0	68.0	68.0		1575	-8.7	0.2	19	dbSNP_134	68	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ZNF470	NM_001001668.3		0,13,6490	AA,AG,GG		0.0349,0.227,0.1		525/718	57089372	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	0			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1575G>A	19.37:g.57089372G>A			A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A525	ENST00000330619.8	37	c.1575	CCDS33122.1	19																																																																																			ZNF470	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197016		0.453	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	-	0.00	48	0	G	NM_001001668		57089372	+1	tier1	rs139141662	no_errors	ENST00000330619	ensembl	human	known	74_37	silent	21.82	43	12	SNP	0.000	A
ZNF485	220992	genome.wustl.edu	37	10	44111987	44111987	+	Missense_Mutation	SNP	G	G	A	rs369821326		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:44111987G>A	ENST00000361807.3	+	5	690	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	ZNF485_ENST00000374435.3_Missense_Mutation_p.A166T|ZNF485_ENST00000374437.2_Missense_Mutation_p.A75T	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						ATGTGGGATCGCCTTTATGAA	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		20647	0.001		0.0	False		,,,				2504	0.0																0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	125.0	120.0	122.0		496	0.6	0.0	10		122	0,8600		0,0,4300	no	missense	ZNF485	NM_145312.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	166/442	44111987	1,13005	2203	4300	6503	SO:0001583	missense	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.496G>A	10.37:g.44111987G>A	ENSP00000354694:p.Ala166Thr		B4DSE6|Q96CL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A166T	ENST00000361807.3	37	c.496	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	G	4.219	0.039416	0.08148	2.27E-4	0.0	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.13778	2.56;2.56;2.56	2.52	0.605	0.17553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10766	0.0263	N	0.21617	0.685	0.09310	N	1	P	0.52170	0.951	P	0.49085	0.6	T	0.24404	-1.0161	9	0.28530	T	0.3	.	4.9514	0.14015	0.4528:0.0:0.5472:0.0	.	166	Q8NCK3	ZN485_HUMAN	T	166;75;166	ENSP00000354694:A166T;ENSP00000363560:A75T;ENSP00000363558:A166T	ENSP00000354694:A166T	A	+	1	0	ZNF485	43431993	0.000000	0.05858	0.039000	0.18376	0.187000	0.23431	0.430000	0.21428	0.154000	0.19237	0.462000	0.41574	GCC	ZNF485	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198298		0.398	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	-	0.00	52	0	G	NM_145312		44111987	+1	tier1	-	no_errors	ENST00000361807	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.008	A
ZNF492	57615	genome.wustl.edu	37	19	22846645	22846646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:22846645_22846646insA	ENST00000456783.2	+	4	418_419	c.174_175insA	c.(175-177)aaafs	p.K59fs	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAAGCAGGGCAAAAAAAATTA	0.302																																																	0																																										SO:0001589	frameshift_variant	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.182dupA	19.37:g.22846653_22846653dupA	ENSP00000413660:p.Lys59fs		Q08EI7|Q08EI8	Frame_Shift_Ins	INS	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N60fs	ENST00000456783.2	37	c.174_175	CCDS46032.1	19																																																																																			ZNF492	-	NULL	ENSG00000229676		0.302	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1		0.00	66	0	-	NM_020855		22846646	+1	tier1		no_errors	ENST00000456783	ensembl	human	known	74_37	frame_shift_ins	9.09	40	4	INS	0.000:0.001	A
ZNF497	162968	genome.wustl.edu	37	19	58867645	58867645	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:58867645G>A	ENST00000311044.3	-	3	1545	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R453C|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000593374.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCGACTTGCGCACGAAGGCC	0.682																																																	0													12.0	14.0	14.0					19																	58867645		2197	4297	6494	SO:0001583	missense	0			AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1357C>T	19.37:g.58867645G>A	ENSP00000311183:p.Arg453Cys		Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R453C	ENST00000311044.3	37	c.1357	CCDS12977.1	19	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778249	0.49786	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.30182	1.54;1.54	1.14	-2.29	0.06805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35740	0.0942	L	0.39633	1.23	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.21861	-1.0233	9	0.54805	T	0.06	.	1.8909	0.03247	0.1423:0.1924:0.4699:0.1954	.	453	Q6ZNH5	ZN497_HUMAN	C	453	ENSP00000311183:R453C;ENSP00000402815:R453C	ENSP00000311183:R453C	R	-	1	0	ZNF497	63559457	0.000000	0.05858	0.005000	0.12908	0.374000	0.29953	-1.391000	0.02525	-1.225000	0.02578	0.195000	0.17529	CGC	ZNF497	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174586		0.682	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF497	HGNC	protein_coding	OTTHUMT00000466942.2	-	0.00	18	0	G	NM_198458		58867645	-1	tier1	-	no_errors	ENST00000311044	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.047	A
ZNF500	26048	genome.wustl.edu	37	16	4812297	4812297	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:4812297G>A	ENST00000219478.6	-	4	937	c.638C>T	c.(637-639)tCg>tTg	p.S213L	ZNF500_ENST00000545009.1_Missense_Mutation_p.S213L			O60304	ZN500_HUMAN	zinc finger protein 500	213					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAGGAAGGGCGAGGCTGACGC	0.637																																																	0													48.0	42.0	44.0					16																	4812297		2195	4297	6492	SO:0001583	missense	0			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.638C>T	16.37:g.4812297G>A	ENSP00000219478:p.Ser213Leu		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S213L	ENST00000219478.6	37	c.638	CCDS32383.1	16	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495785	0.26774	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.06849	3.33;3.25	4.18	-0.754	0.11065	.	.	.	.	.	T	0.03959	0.0111	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.45205	-0.9277	9	0.22706	T	0.39	.	0.8799	0.01232	0.2903:0.159:0.3879:0.1628	.	213;213	B4DNN9;O60304	.;ZN500_HUMAN	L	213	ENSP00000445714:S213L;ENSP00000219478:S213L	ENSP00000219478:S213L	S	-	2	0	ZNF500	4752298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.181000	0.09740	0.017000	0.15025	-0.150000	0.13652	TCG	ZNF500	-	NULL	ENSG00000103199		0.637	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF500	HGNC	protein_coding	OTTHUMT00000432461.1	-	0.00	58	0	G	XM_085507		4812297	-1	tier1	-	no_errors	ENST00000219478	ensembl	human	known	74_37	missense	29.41	35	15	SNP	0.000	A
ZNF507	22847	genome.wustl.edu	37	19	32844630	32844630	+	Silent	SNP	G	G	A	rs369944187		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:32844630G>A	ENST00000311921.4	+	2	1086	c.894G>A	c.(892-894)gcG>gcA	p.A298A	ZNF507_ENST00000544431.1_Silent_p.A298A|ZNF507_ENST00000355898.5_Silent_p.A298A	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CAGCTGCTGCGCCTGGTGGGG	0.502																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	102.0	104.0	103.0		894,894	-1.5	0.0	19		103	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF507	NM_001136156.1,NM_014910.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	298/954,298/954	32844630	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.894G>A	19.37:g.32844630G>A			A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A298	ENST00000311921.4	37	c.894	CCDS32985.1	19																																																																																			ZNF507	-	NULL	ENSG00000168813		0.502	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	-	0.00	43	0	G	NM_014910		32844630	+1	tier1	-	no_errors	ENST00000311921	ensembl	human	known	74_37	silent	15.62	26	5	SNP	0.000	A
ZNF518A	9849	genome.wustl.edu	37	10	97916214	97916214	+	RNA	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:97916214delA	ENST00000534948.1	+	0	992							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATTATGCACTAAAAAATGTGA	0.274																																																	0													41.0	41.0	41.0					10																	97916214		1791	4059	5850			0			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916214delA			A0PJI5|O15044|Q32MP4	RNA	DEL	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-	ENSG00000177853		0.274	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript			0.00	83	0	A	NM_014803		97916214	+1	tier1		no_errors	ENST00000478086	ensembl	human	known	74_37	rna	11.48	54	7	DEL	0.143	-
ZNF518A	9849	genome.wustl.edu	37	10	97918856	97918856	+	RNA	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:97918856delA	ENST00000534948.1	+	0	3634							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATTCAGAACAAAAAAAAACT	0.348																																																	0													43.0	42.0	42.0					10																	97918856		1795	4061	5856			0			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918856delA			A0PJI5|O15044|Q32MP4	RNA	DEL	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-	ENSG00000177853		0.348	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript			0.00	22	0	A	NM_014803		97918856	+1	tier1		no_errors	ENST00000316045	ensembl	human	known	74_37	rna	41.38	17	12	DEL	0.867	-
PRAP1	118471	genome.wustl.edu	37	10	135165862	135165862	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:135165862G>T	ENST00000433452.2	+	5	646	c.374G>T	c.(373-375)aGg>aTg	p.R125M	PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000423766.1_Missense_Mutation_p.R126M|FUOM_ENST00000465384.1_5'Flank|RP11-122K13.7_ENST00000452591.1_RNA|ZNF511_ENST00000368554.4_Missense_Mutation_p.R284M|PRAP1_ENST00000458230.1_Missense_Mutation_p.R116M			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	125						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		GGCGAGGAGAGGCCCCGGTTG	0.647																																																	0													97.0	98.0	98.0					10																	135165862		2203	4300	6503	SO:0001583	missense	0			AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.374G>T	10.37:g.135165862G>T	ENSP00000416126:p.Arg125Met		B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.R284M	ENST00000433452.2	37	c.851	CCDS7679.1	10	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162881	0.38217	.	.	ENSG00000198546;ENSG00000165828;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766;ENST00000458230	T;T;T;T	0.33438	1.41;1.45;1.45;1.45	3.37	0.364	0.16124	.	1.521150	0.04330	N	0.352221	T	0.23806	0.0576	N	0.19112	0.55	0.09310	N	1	P;P;P	0.39624	0.681;0.681;0.681	B;B;B	0.44133	0.442;0.442;0.442	T	0.17289	-1.0374	10	0.52906	T	0.07	-1.6214	2.7752	0.05345	0.2528:0.0:0.5139:0.2333	.	116;126;125	A6XND8;Q96NZ9-3;Q96NZ9	.;.;PRAP1_HUMAN	M	284;125;126;116	ENSP00000357542:R284M;ENSP00000416126:R125M;ENSP00000409495:R126M;ENSP00000402700:R116M	ENSP00000409495:R126M	R	+	2	0	ZNF511;PRAP1	135015852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.867000	0.04241	0.074000	0.16767	-0.149000	0.13747	AGG	ZNF511	-	NULL	ENSG00000198546		0.647	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051132.1	-	0.00	27	0	G	NM_145202		135165862	+1	tier1	-	no_errors	ENST00000368554	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.000	T
ZNF554	115196	genome.wustl.edu	37	19	2834366	2834366	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:2834366A>G	ENST00000317243.5	+	5	1331	c.1133A>G	c.(1132-1134)aAg>aGg	p.K378R		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGGAGAGAAGCCCTACGGG	0.552																																																	0													43.0	48.0	46.0					19																	2834366		2179	4288	6467	SO:0001583	missense	0			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1133A>G	19.37:g.2834366A>G	ENSP00000321132:p.Lys378Arg		Q8NAT3|Q9BWN3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K378R	ENST00000317243.5	37	c.1133	CCDS42462.1	19	.	.	.	.	.	.	.	.	.	.	A	15.25	2.777665	0.49786	.	.	ENSG00000172006	ENST00000317243	T	0.24908	1.83	2.76	1.73	0.24493	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16599	0.0399	L	0.28274	0.84	0.80722	D	1	B	0.21147	0.052	B	0.27170	0.077	T	0.06409	-1.0828	9	0.41790	T	0.15	.	5.9256	0.19110	0.8628:0.0:0.1372:0.0	.	378	Q86TJ5	ZN554_HUMAN	R	378	ENSP00000321132:K378R	ENSP00000321132:K378R	K	+	2	0	ZNF554	2785366	0.035000	0.19736	0.948000	0.38648	0.733000	0.41908	0.191000	0.17076	0.312000	0.23038	-0.350000	0.07774	AAG	ZNF554	-	pfscan_Znf_C2H2	ENSG00000172006		0.552	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF554	HGNC	protein_coding	OTTHUMT00000451598.3	-	0.00	53	0	A	NM_152303		2834366	+1	tier1	-	no_errors	ENST00000317243	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	G
ZNF536	9745	genome.wustl.edu	37	19	30934476	30934477	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:30934476_30934477insA	ENST00000355537.3	+	2	154_155	c.7_8insA	c.(7-9)gaafs	p.E3fs		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	3					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGGATGGAAGAAGCGAGCCTG	0.589																																																	0																																										SO:0001589	frameshift_variant	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.9dupA	19.37:g.30934478_30934478dupA	ENSP00000347730:p.Glu3fs		A2RU18	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A4fs	ENST00000355537.3	37	c.7_8	CCDS32984.1	19																																																																																			ZNF536	-	NULL	ENSG00000198597		0.589	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2		0.00	58	0	-	NM_014717		30934477	+1	tier1		no_errors	ENST00000355537	ensembl	human	known	74_37	frame_shift_ins	28.57	25	10	INS	1.000:1.000	A
ZNF541	84215	genome.wustl.edu	37	19	48041514	48041514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:48041514delG	ENST00000391901.3	-	7	2978	c.2979delC	c.(2977-2979)cccfs	p.P993fs	ZNF541_ENST00000487275.1_Intron|ZNF541_ENST00000448976.1_Intron|ZNF541_ENST00000314121.4_Frame_Shift_Del_p.P1012fs			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	993					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						GTGGTGTGTAGGGGGAGCACT	0.647																																																	0													50.0	54.0	53.0					19																	48041514		692	1591	2283	SO:0001589	frameshift_variant	0			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.2979delC	19.37:g.48041514delG	ENSP00000375770:p.Pro993fs		Q8NDK8	Frame_Shift_Del	DEL	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.Y1013fs	ENST00000391901.3	37	c.3036		19																																																																																			ZNF541	-	NULL	ENSG00000118156		0.647	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1		0.00	26	0	G	NM_032255		48041514	-1	tier1		no_errors	ENST00000314121	ensembl	human	known	74_37	frame_shift_del	16.13	26	5	DEL	0.894	-
ZNF530	348327	genome.wustl.edu	37	19	58117515	58117515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:58117515C>T	ENST00000332854.6	+	3	842	c.622C>T	c.(622-624)Cga>Tga	p.R208*	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCCACTGGACGAAAGCCTCT	0.468																																																	0													85.0	87.0	86.0					19																	58117515		2203	4300	6503	SO:0001587	stop_gained	0			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.622C>T	19.37:g.58117515C>T	ENSP00000332861:p.Arg208*		O43340|Q9P220	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R208*	ENST00000332854.6	37	c.622	CCDS12955.1	19	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701634	0.48307	.	.	ENSG00000183647	ENST00000332854	.	.	.	0.801	-1.6	0.08426	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	3.3825	0.07260	0.315:0.4589:0.2261:0.0	.	.	.	.	X	208	.	ENSP00000332861:R208X	R	+	1	2	ZNF530	62809327	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.423000	0.07034	-1.102000	0.03023	-0.578000	0.04140	CGA	ZNF530	-	NULL	ENSG00000183647		0.468	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	-	0.00	30	0	C	NM_020880		58117515	+1	tier1	-	no_errors	ENST00000332854	ensembl	human	known	74_37	nonsense	17.02	39	8	SNP	0.000	T
ZNF607	84775	genome.wustl.edu	37	19	38189877	38189877	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:38189877A>G	ENST00000355202.4	-	5	1750	c.1155T>C	c.(1153-1155)ggT>ggC	p.G385G	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.G384G	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CACTATGAATACCCTGATGTC	0.388																																																	0													79.0	77.0	78.0					19																	38189877		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1155T>C	19.37:g.38189877A>G			F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G385	ENST00000355202.4	37	c.1155	CCDS33006.1	19																																																																																			ZNF607	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.388	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	-	0.00	58	0	A	NM_032689		38189877	-1	tier1	-	no_errors	ENST00000355202	ensembl	human	known	74_37	silent	15.09	45	8	SNP	0.968	G
ZNF615	284370	genome.wustl.edu	37	19	52505112	52505112	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:52505112T>G	ENST00000602063.1	-	5	541	c.192A>C	c.(190-192)gaA>gaC	p.E64D	ZNF615_ENST00000598071.1_Missense_Mutation_p.E64D|ZNF615_ENST00000597747.1_Missense_Mutation_p.E64D|ZNF615_ENST00000594083.1_Missense_Mutation_p.E64D|ZNF615_ENST00000391795.3_Missense_Mutation_p.E69D|ZNF615_ENST00000376716.5_Missense_Mutation_p.E64D|ZNF615_ENST00000595114.1_5'Flank			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCAAGTTTCTTCTCCTCGTT	0.478																																																	0													183.0	140.0	155.0					19																	52505112		2203	4300	6503	SO:0001583	missense	0			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.192A>C	19.37:g.52505112T>G	ENSP00000473089:p.Glu64Asp		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E64D	ENST00000602063.1	37	c.192	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	T	10.72	1.428399	0.25726	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.01005	5.45;5.45	2.84	1.76	0.24704	Krueppel-associated box (3);	.	.	.	.	T	0.01254	0.0041	L	0.54965	1.715	0.09310	N	1	P;P;P;P	0.37330	0.455;0.59;0.59;0.455	B;B;B;B	0.37144	0.123;0.242;0.242;0.123	T	0.47535	-0.9110	9	0.51188	T	0.08	.	5.0258	0.14383	0.2662:0.0:0.0:0.7338	.	69;60;64;64	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	D	64;63;69;63	ENSP00000365906:E64D;ENSP00000375672:E69D	ENSP00000347019:E63D	E	-	3	2	ZNF615	57196924	0.031000	0.19500	0.007000	0.13788	0.078000	0.17371	1.002000	0.29796	0.454000	0.26884	0.533000	0.62120	GAA	ZNF615	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197619		0.478	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	-	0.00	82	0	T	NM_198480		52505112	-1	tier1	-	no_errors	ENST00000594083	ensembl	human	known	74_37	missense	12.66	69	10	SNP	0.022	G
ZNF586	54807	genome.wustl.edu	37	19	58291095	58291095	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:58291095A>G	ENST00000396154.2	+	3	1313	c.1140A>G	c.(1138-1140)aaA>aaG	p.K380K	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000391702.3_Silent_p.K337K|ZNF586_ENST00000599802.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGTGGAAAATCATTTCGCC	0.433																																																	0													89.0	91.0	90.0					19																	58291095		2197	4294	6491	SO:0001819	synonymous_variant	0			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.1140A>G	19.37:g.58291095A>G			A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K380	ENST00000396154.2	37	c.1140	CCDS42640.1	19																																																																																			ZNF586	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083828		0.433	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	-	0.00	43	0	A	NM_017652		58291095	+1	tier1	-	no_errors	ENST00000396154	ensembl	human	known	74_37	silent	15.38	44	8	SNP	0.881	G
ZNF646	9726	genome.wustl.edu	37	16	31090803	31090803	+	Missense_Mutation	SNP	G	G	A	rs140829625		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:31090803G>A	ENST00000394979.2	+	1	3581	c.3158G>A	c.(3157-3159)cGc>cAc	p.R1053H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1053H			O15015	ZN646_HUMAN	zinc finger protein 646	1053					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CGCCCCTTCCGCTGCAACCAG	0.622																																																	0								G	HIS/ARG	0,4394		0,0,2197	105.0	111.0	109.0		3158	3.5	1.0	16	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF646	NM_014699.3	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1053/1833	31090803	1,12993	2197	4300	6497	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3158G>A	16.37:g.31090803G>A	ENSP00000378429:p.Arg1053His		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1053H	ENST00000394979.2	37	c.3158		16	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709888	0.68730	0.0	1.16E-4	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.53857	0.6;0.6	5.75	3.45	0.39498	.	.	.	.	.	T	0.50905	0.1643	L	0.33710	1.025	0.09310	N	1	D	0.58620	0.983	P	0.53861	0.736	T	0.35001	-0.9806	9	0.59425	D	0.04	-2.61	7.549	0.27783	0.1775:0.1434:0.6792:0.0	.	1053	O15015-2	.	H	1053	ENSP00000300850:R1053H;ENSP00000378429:R1053H	ENSP00000300850:R1053H	R	+	2	0	ZNF646	30998304	0.002000	0.14202	1.000000	0.80357	0.990000	0.78478	0.572000	0.23684	1.404000	0.46819	0.563000	0.77884	CGC	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.622	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0.00	38	0	G	NM_014699		31090803	+1	tier1	rs140829625	no_errors	ENST00000300850	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.216	A
ZNF648	127665	genome.wustl.edu	37	1	182025992	182025992	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:182025992G>A	ENST00000339948.3	-	2	1361	c.1154C>T	c.(1153-1155)aCg>aTg	p.T385M		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCCCAGGTGCGTGCGCTGGTG	0.682																																					NSCLC(71;908 1374 5429 20458 35642)												0													30.0	30.0	30.0					1																	182025992		2188	4271	6459	SO:0001583	missense	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1154C>T	1.37:g.182025992G>A	ENSP00000344129:p.Thr385Met		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T385M	ENST00000339948.3	37	c.1154	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707817	0.48412	.	.	ENSG00000179930	ENST00000339948	T	0.20332	2.08	2.81	1.89	0.25635	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19046	0.0457	M	0.72353	2.195	0.35271	D	0.780486	P	0.43094	0.799	B	0.36959	0.237	T	0.27706	-1.0066	9	0.59425	D	0.04	.	4.0872	0.09953	0.1399:0.2462:0.6139:0.0	.	385	Q5T619	ZN648_HUMAN	M	385	ENSP00000344129:T385M	ENSP00000344129:T385M	T	-	2	0	ZNF648	180292615	0.258000	0.24033	0.995000	0.50966	0.971000	0.66376	0.679000	0.25291	0.739000	0.32628	0.561000	0.74099	ACG	ZNF648	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179930		0.682	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	-	0.00	19	0	G	XM_060597		182025992	-1	tier1	-	no_errors	ENST00000339948	ensembl	human	novel	74_37	missense	27.27	16	6	SNP	0.985	A
ZNF663P	100130934	genome.wustl.edu	37	20	45085292	45085292	+	RNA	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:45085292delT	ENST00000400371.2	-	0	1226									zinc finger protein 663, pseudogene																		ACGCCCATTATTTTTTTTCCC	0.373																																																	0																																												0					20q13.12	2014-03-13	2013-09-26	2013-09-26	ENSG00000215452	ENSG00000215452		"""Zinc fingers, C2H2-type"""	25342	pseudogene	pseudogene			"""zinc finger protein 663"""	ZNF663			Standard	NR_045983		Approved	DKFZp547G0215	uc031rtv.1		OTTHUMG00000032648		20.37:g.45085292delT				RNA	DEL	-	NULL	ENST00000400371.2	37	NULL		20																																																																																			ZNF663P	-	-	ENSG00000215452		0.373	ZNF663P-002	KNOWN	basic	processed_transcript	ZNF663P	HGNC	pseudogene	OTTHUMT00000079571.1		0.00	49	0	T	NM_173643		45085292	-1	tier1		no_errors	ENST00000400371	ensembl	human	known	74_37	rna	34.62	34	18	DEL	0.000	-
ZNF668	79759	genome.wustl.edu	37	16	31072399	31072399	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:31072399C>A	ENST00000538906.1	-	3	2634	c.1850G>T	c.(1849-1851)gGg>gTg	p.G617V	ZNF668_ENST00000539836.3_Missense_Mutation_p.G640V|ZNF668_ENST00000394983.2_Missense_Mutation_p.G617V|ZNF668_ENST00000300849.4_Missense_Mutation_p.G617V|ZNF668_ENST00000535577.1_Missense_Mutation_p.G617V|ZNF668_ENST00000426488.2_Missense_Mutation_p.G640V|ZNF668_ENST00000417110.2_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCAGGCCGGCCCCTCTTCAGG	0.657																																					Colon(181;1111 1980 5060 10512 25785)												0													31.0	39.0	36.0					16																	31072399		2125	4251	6376	SO:0001583	missense	0				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1850G>T	16.37:g.31072399C>A	ENSP00000440149:p.Gly617Val		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G640V	ENST00000538906.1	37	c.1919	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143557	0.37825	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.19	4.23	0.50019	.	0.290389	0.25680	N	0.029002	T	0.04003	0.0112	N	0.14661	0.345	0.51012	D	0.999907	B	0.30068	0.267	B	0.22601	0.04	T	0.23190	-1.0195	10	0.05620	T	0.96	-27.9108	11.3779	0.49739	0.0:0.9146:0.0:0.0854	.	617	Q96K58	ZN668_HUMAN	V	640;617;617;617;617	ENSP00000442573:G640V;ENSP00000441349:G617V;ENSP00000440149:G617V;ENSP00000378434:G617V;ENSP00000300849:G617V	ENSP00000300849:G617V	G	-	2	0	ZNF668	30979900	0.004000	0.15560	0.998000	0.56505	0.503000	0.33858	0.728000	0.26013	1.414000	0.47017	0.655000	0.94253	GGG	ZNF668	-	NULL	ENSG00000167394		0.657	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	-	0.00	103	0	C	NM_024706		31072399	-1	tier1	-	no_errors	ENST00000426488	ensembl	human	known	74_37	missense	13.00	86	13	SNP	0.816	A
ZNF671	79891	genome.wustl.edu	37	19	58238904	58238904	+	5'UTR	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:58238904G>A	ENST00000317398.6	-	0	88				ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_5'UTR|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CATCTCCTCCGCGCTTTCCCA	0.637																																																	0													55.0	57.0	56.0					19																	58238904		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.-8C>T	19.37:g.58238904G>A			A6NF07|Q9H5E9	RNA	SNP	-	NULL	ENST00000317398.6	37	NULL	CCDS12961.1	19																																																																																			ZNF671	-	-	ENSG00000083814		0.637	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	-	0.00	91	0	G	NM_024833		58238904	-1	tier1	-	no_errors	ENST00000594803	ensembl	human	known	74_37	rna	14.77	75	13	SNP	0.000	A
ZNF687	57592	genome.wustl.edu	37	1	151261173	151261173	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:151261173T>C	ENST00000368879.2	+	3	2383	c.2285T>C	c.(2284-2286)gTa>gCa	p.V762A		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	762					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCGCCGTGTAGGATACAGG	0.567																																																	0													105.0	98.0	100.0					1																	151261173		2203	4300	6503	SO:0001583	missense	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2285T>C	1.37:g.151261173T>C	ENSP00000357874:p.Val762Ala		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V762A	ENST00000368879.2	37	c.2285		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.4|27.4	4.829873|4.829873	0.91036|0.91036	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879|ENST00000426871	T;T;T|.	0.02345|.	4.33;4.33;4.33|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.32147|.	N|.	0.006501|.	T|.	0.36963|.	0.0986|.	N|N	0.20986|0.20986	0.625|0.625	0.43703|0.43703	D|D	0.996169|0.996169	P;B|.	0.35401|.	0.499;0.006|.	B;B|.	0.33620|.	0.167;0.013|.	T|.	0.29941|.	-0.9995|.	10|.	0.66056|.	D|.	0.02|.	.|.	13.6013|13.6013	0.62020|0.62020	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	762;762|.	Q8N1G0-2;Q8N1G0|.	.;ZN687_HUMAN|.	A|Q	762|365	ENSP00000336620:V762A;ENSP00000319829:V762A;ENSP00000357874:V762A|.	ENSP00000319829:V762A|.	V|X	+|+	2|1	0|0	ZNF687|ZNF687	149527797|149527797	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.916000|0.916000	0.54674|0.54674	7.744000|7.744000	0.85034|0.85034	2.052000|2.052000	0.61016|0.61016	0.459000|0.459000	0.35465|0.35465	GTA|TAG	ZNF687	-	NULL	ENSG00000143373		0.567	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding		-	0.00	63	0	T	NM_020832		151261173	+1	tier1	-	no_errors	ENST00000324048	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.966	C
PI4KB	5298	genome.wustl.edu	37	1	151262391	151262391	+	IGR	DEL	G	G	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:151262391delG	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Frame_Shift_Del_p.G959fs			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGTGGGGGTGGGGGGCCTGG	0.627																																					Colon(154;765 1838 9854 28443 37492)												0													9.0	11.0	10.0					1																	151262391		2153	4235	6388	SO:0001628	intergenic_variant	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262391delG			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P960fs	ENST00000368873.1	37	c.2872		1																																																																																			ZNF687	-	NULL	ENSG00000143373		0.627	PI4KB-002	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding	OTTHUMT00000034400.3		0.00	102	0	G	NM_002651		151262391	+1	tier1		no_errors	ENST00000324048	ensembl	human	known	74_37	frame_shift_del	23.66	71	22	DEL	0.884	-
ZNF689	115509	genome.wustl.edu	37	16	30615890	30615890	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:30615890G>T	ENST00000287461.3	-	3	1535	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	ZNF689_ENST00000566673.1_5'Flank|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	400					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CAGGCGTGCAGCTTCTCCTCT	0.697																																																	0													15.0	15.0	15.0					16																	30615890		2189	4294	6483	SO:0001583	missense	0			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.1198C>A	16.37:g.30615890G>T	ENSP00000287461:p.Leu400Met		Q658J5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L400M	ENST00000287461.3	37	c.1198	CCDS10686.1	16	.	.	.	.	.	.	.	.	.	.	g	15.52	2.858083	0.51376	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.18960	2.18	5.39	4.44	0.53790	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38164	N	0.001797	T	0.36717	0.0977	L	0.46885	1.475	0.34061	D	0.657286	D	0.67145	0.996	D	0.68621	0.959	T	0.53158	-0.8478	10	0.87932	D	0	-18.9795	11.9276	0.52829	0.0835:0.0:0.9165:0.0	.	400	Q96CS4	ZN689_HUMAN	M	400	ENSP00000287461:L400M	ENSP00000287461:L400M	L	-	1	2	ZNF689	30523391	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	5.123000	0.64703	1.521000	0.48983	0.555000	0.69702	CTG	ZNF689	-	pfscan_Znf_C2H2	ENSG00000156853		0.697	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF689	HGNC	protein_coding	OTTHUMT00000255552.1	-	0.00	41	0	G	NM_138447		30615890	-1	tier1	-	no_errors	ENST00000287461	ensembl	human	known	74_37	missense	20.45	34	9	SNP	1.000	T
ZNF695	57116	genome.wustl.edu	37	1	247163304	247163304	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:247163304G>A	ENST00000339986.7	-	2	223	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.R26W	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACAAACTCCGCTGAGCTGGG	0.433																																																	0													68.0	74.0	72.0					1																	247163304		2195	4293	6488	SO:0001583	missense	0				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.76C>T	1.37:g.247163304G>A	ENSP00000341236:p.Arg26Trp		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R26W	ENST00000339986.7	37	c.76	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398650	0.11696	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.03004	4.08;4.08	0.588	-1.18	0.09617	Krueppel-associated box (4);	.	.	.	.	T	0.15046	0.0363	M	0.86864	2.845	0.21386	N	0.999701	D;D;B	0.76494	0.999;0.995;0.169	D;P;B	0.69654	0.965;0.863;0.01	T	0.04693	-1.0933	8	0.72032	D	0.01	.	.	.	.	.	26;26;26	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	W	26	ENSP00000429736:R26W;ENSP00000341236:R26W	ENSP00000428213:R26W	R	-	1	2	ZNF695	245229927	0.200000	0.23398	0.488000	0.27440	0.029000	0.11900	0.703000	0.25646	-0.583000	0.05921	0.195000	0.17529	CGG	ZNF695	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197472		0.433	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	-	0.00	87	0	G	NM_020394		247163304	-1	tier1	-	no_errors	ENST00000339986	ensembl	human	known	74_37	missense	20.51	62	16	SNP	0.691	A
ZNF703	80139	genome.wustl.edu	37	8	37554830	37554830	+	Silent	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:37554830C>T	ENST00000331569.4	+	2	640	c.411C>T	c.(409-411)gcC>gcT	p.A137A		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	137	Poly-Ala.				adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CCTCCGCAGCCGCGGCCCTGA	0.736																																																	0													4.0	6.0	5.0					8																	37554830		2001	3963	5964	SO:0001819	synonymous_variant	0			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.411C>T	8.37:g.37554830C>T			Q5XG76	Silent	SNP	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.A137	ENST00000331569.4	37	c.411	CCDS6094.1	8																																																																																			ZNF703	-	NULL	ENSG00000183779		0.736	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF703	HGNC	protein_coding	OTTHUMT00000376683.2	-	0.00	24	0	C	NM_025069		37554830	+1	tier1	-	no_errors	ENST00000331569	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.378	T
ZNF704	619279	genome.wustl.edu	37	8	81550825	81550826	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:81550825_81550826delAA	ENST00000327835.3	-	0	4245_4246					NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704								metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGCTACGTTTAAAAAAAAAAAA	0.376																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.*2776TT>-	8.37:g.81550835_81550836delAA			B2RNE6|B9EGW6	RNA	DEL	-	NULL	ENST00000327835.3	37	NULL	CCDS34913.1	8																																																																																			ZNF704	-	-	ENSG00000164684		0.376	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	HGNC	protein_coding	OTTHUMT00000379964.2		0.00	36	0	AA	NM_001033723		81550826	-1	tier1		no_errors	ENST00000517379	ensembl	human	putative	74_37	rna	36.73	31	18	DEL	0.000:0.000	-
ZNF705A	440077	genome.wustl.edu	37	12	8327007	8327007	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:8327007G>A	ENST00000359286.4	+	2	187	c.98G>A	c.(97-99)aGa>aAa	p.R33K		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AAGCTGTACAGAGATGTGATG	0.428																																																	0													19.0	21.0	20.0					12																	8327007		989	2074	3063	SO:0001583	missense	0			AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"""Zinc fingers, C2H2-type"", ""-"""	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.98G>A	12.37:g.8327007G>A	ENSP00000352233:p.Arg33Lys			Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R33K	ENST00000359286.4	37	c.98	CCDS31737.1	12	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511774	0.44660	.	.	ENSG00000196946	ENST00000402465;ENST00000396570;ENST00000359286	T;T;T	0.02301	4.35;4.35;4.35	1.57	-0.464	0.12160	Krueppel-associated box (4);	.	.	.	.	T	0.02119	0.0066	L	0.47016	1.485	0.19300	N	0.99998	B	0.19445	0.036	B	0.10450	0.005	T	0.47368	-0.9123	9	0.22109	T	0.4	.	4.1887	0.10411	0.4081:0.0:0.5919:0.0	.	33	Q6ZN79	Z705A_HUMAN	K	33	ENSP00000384896:R33K;ENSP00000379816:R33K;ENSP00000352233:R33K	ENSP00000352233:R33K	R	+	2	0	ZNF705A	8218274	0.045000	0.20229	0.770000	0.31555	0.330000	0.28571	0.650000	0.24858	-0.110000	0.12022	-0.587000	0.04127	AGA	ZNF705A	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196946		0.428	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF705A	HGNC	protein_coding	OTTHUMT00000400449.1	-	0.00	125	0	G	NM_001004328		8327007	+1	tier1	-	no_errors	ENST00000359286	ensembl	human	known	74_37	missense	10.34	78	9	SNP	0.866	A
ZNF714	148206	genome.wustl.edu	37	19	21300892	21300892	+	Silent	SNP	T	T	C			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:21300892T>C	ENST00000596143.1	+	5	1747	c.1422T>C	c.(1420-1422)caT>caC	p.H474H	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ACATAATTCATACTGGAGAGA	0.383																																																	0																																										SO:0001819	synonymous_variant	0			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1422T>C	19.37:g.21300892T>C			Q49AI1|Q86W65|Q8ND40	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H474	ENST00000596143.1	37	c.1422	CCDS54239.1	19																																																																																			ZNF714	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160352		0.383	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1	-	0.00	48	0	T	NM_182515		21300892	+1	tier1	-	no_errors	ENST00000596143	ensembl	human	known	74_37	silent	43.59	22	17	SNP	1.000	C
ZNF717	100131827	genome.wustl.edu	37	3	75786865	75786865	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:75786865G>A	ENST00000478296.1	-	4	2035	c.1759C>T	c.(1759-1761)Cat>Tat	p.H587Y	ZNF717_ENST00000422325.1_Missense_Mutation_p.H637Y|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.H630Y|MIR4273_ENST00000582824.1_RNA			Q9BY31	ZN717_HUMAN	zinc finger protein 717	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GTTCCCTGATGGGTGCTGAGA	0.428																																																	0													22.0	26.0	25.0					3																	75786865		631	1557	2188	SO:0001583	missense	0			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.1759C>T	3.37:g.75786865G>A	ENSP00000419377:p.His587Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H637Y	ENST00000478296.1	37	c.1909		3	.	.	.	.	.	.	.	.	.	.	.	16.70	3.195642	0.58126	.	.	ENSG00000227124	ENST00000478296;ENST00000422325;ENST00000400845	D;D;D	0.86769	-2.17;-2.17;-2.17	1.9	1.9	0.25705	.	.	.	.	.	D	0.95137	0.8424	H	0.97340	3.985	0.32214	N	0.576131	D	0.89917	1.0	D	0.91635	0.999	D	0.93377	0.6740	9	0.87932	D	0	.	9.9769	0.41789	0.0:0.0:1.0:0.0	.	637	C9JSV9	.	Y	587;637;630	ENSP00000419377:H587Y;ENSP00000409514:H637Y;ENSP00000383643:H630Y	ENSP00000383643:H630Y	H	-	1	0	ZNF717	75869555	1.000000	0.71417	0.024000	0.17045	0.005000	0.04900	6.599000	0.74127	1.423000	0.47198	0.551000	0.68910	CAT	ZNF717	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000227124		0.428	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	ZNF717	HGNC	protein_coding	OTTHUMT00000352764.2	-	0.00	77	0	G	NM_001128223		75786865	-1	tier1	-	no_errors	ENST00000422325	ensembl	human	known	74_37	missense	11.11	64	8	SNP	0.876	A
ZNF730	100129543	genome.wustl.edu	37	19	23316942	23316942	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:23316942G>A	ENST00000597761.2	+	2	263	c.64G>A	c.(64-66)Gac>Aac	p.D22N	ZNF730_ENST00000593635.1_5'UTR	NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GCAATGTCTGGACACCGAACA	0.378																																																	0																																										SO:0001583	missense	0			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.64G>A	19.37:g.23316942G>A	ENSP00000472959:p.Asp22Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D22N	ENST00000597761.2	37	c.64	CCDS59371.1	19	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365571	0.24684	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.195	0.195	0.15151	.	.	.	.	.	T	0.40145	0.1105	L	0.49640	1.575	0.09310	N	1	.	.	.	.	.	.	T	0.36456	-0.9747	5	0.49607	T	0.09	.	.	.	.	.	.	.	.	N	22	.	ENSP00000329365:D22N	D	+	1	0	ZNF730	23108782	0.087000	0.21565	0.018000	0.16275	0.018000	0.09664	0.791000	0.26915	0.300000	0.22699	0.306000	0.20318	GAC	ZNF730	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000183850		0.378	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	-	0.00	115	0	G	XM_001719792		23316942	+1	tier1	-	no_errors	ENST00000597761	ensembl	human	known	74_37	missense	20.37	86	22	SNP	0.022	A
ZNF746	155061	genome.wustl.edu	37	7	149171653	149171653	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:149171653C>T	ENST00000340622.3	-	7	2037	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	ZNF746_ENST00000458143.2_Missense_Mutation_p.R587H			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	586					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCATGGTTGCGCTGGTGCTT	0.677																																																	0													45.0	36.0	39.0					7																	149171653		2203	4300	6503	SO:0001583	missense	0			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1757G>A	7.37:g.149171653C>T	ENSP00000345140:p.Arg586His		A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R587H	ENST00000340622.3	37	c.1760	CCDS5897.1	7	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925573	0.73213	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.09911	2.93;2.93	5.58	5.58	0.84498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000102	T	0.30355	0.0762	L	0.60067	1.865	0.31269	N	0.691941	D;D	0.89917	1.0;0.991	D;P	0.70716	0.97;0.899	T	0.06588	-1.0818	10	0.87932	D	0	-22.5373	17.0667	0.86561	0.0:1.0:0.0:0.0	.	587;586	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	H	586;587	ENSP00000345140:R586H;ENSP00000395007:R587H	ENSP00000345140:R586H	R	-	2	0	ZNF746	148802586	0.533000	0.26354	1.000000	0.80357	0.866000	0.49608	1.408000	0.34668	2.630000	0.89119	0.462000	0.41574	CGC	ZNF746	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181220		0.677	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	-	0.00	44	0	C	NM_152557		149171653	-1	tier1	-	no_errors	ENST00000458143	ensembl	human	known	74_37	missense	18.60	35	8	SNP	1.000	T
ZNF76	7629	genome.wustl.edu	37	6	35259168	35259168	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35259168C>T	ENST00000373953.3	+	8	1005	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	ZNF76_ENST00000440666.2_Missense_Mutation_p.R221C|ZNF76_ENST00000339411.5_Missense_Mutation_p.R247C	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	247					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GAAGCATGTCCGTACCCACAC	0.572																																					Esophageal Squamous(52;92 1039 20612 23956 34676)												0													85.0	69.0	74.0					6																	35259168		2203	4300	6503	SO:0001583	missense	0			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.739C>T	6.37:g.35259168C>T	ENSP00000363064:p.Arg247Cys		Q9BQB2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R247C	ENST00000373953.3	37	c.739	CCDS4801.1	6	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369219	0.82463	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000490	T	0.74764	0.3759	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.985	T	0.80425	-0.1388	10	0.87932	D	0	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	247;247;247	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	C	247;247;247;247;221;247	ENSP00000419106:R247C;ENSP00000363064:R247C;ENSP00000392243:R221C;ENSP00000344097:R247C	ENSP00000344097:R247C	R	+	1	0	ZNF76	35367146	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	3.217000	0.51184	2.941000	0.99782	0.655000	0.94253	CGT	ZNF76	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000065029		0.572	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	-	0.00	28	0	C	NM_003427		35259168	+1	tier1	-	no_errors	ENST00000373953	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	T
ZNF85	7639	genome.wustl.edu	37	19	21131730	21131730	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:21131730G>A	ENST00000328178.8	+	4	523	c.410G>A	c.(409-411)tGt>tAt	p.C137Y	ZNF85_ENST00000345030.6_Missense_Mutation_p.C104Y|ZNF85_ENST00000601023.1_Missense_Mutation_p.C78Y	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	137					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTAACCAATGTCTCACAGCT	0.323																																																	0													66.0	69.0	68.0					19																	21131730		2203	4300	6503	SO:0001583	missense	0			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.410G>A	19.37:g.21131730G>A	ENSP00000329793:p.Cys137Tyr		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C137Y	ENST00000328178.8	37	c.410	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	3.111	-0.182679	0.06340	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.05649	3.53;3.41	1.23	-1.89	0.07689	.	.	.	.	.	T	0.13841	0.0335	M	0.79805	2.47	0.09310	N	1	D;D;D	0.89917	1.0;0.98;0.993	D;D;P	0.79108	0.992;0.962;0.885	T	0.38243	-0.9670	9	0.06494	T	0.89	.	0.2479	0.00201	0.217:0.2533:0.2746:0.2551	.	104;78;137	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	Y	137;104;12	ENSP00000329793:C137Y;ENSP00000342340:C104Y	ENSP00000329793:C137Y	C	+	2	0	ZNF85	20923570	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-0.062000	0.11674	-0.274000	0.09232	0.455000	0.32223	TGT	ZNF85	-	NULL	ENSG00000105750		0.323	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	-	0.00	55	0	G	NM_003429		21131730	+1	tier1	-	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	18.75	39	9	SNP	0.000	A
ZNF880	400713	genome.wustl.edu	37	19	52888438	52888438	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:52888438delA	ENST00000422689.2	+	4	1620	c.1605delA	c.(1603-1605)ctafs	p.L535fs		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	535					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGTTATACCTAAAAAAACATG	0.403																																																	0													52.0	49.0	50.0					19																	52888438		692	1591	2283	SO:0001589	frameshift_variant	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1605delA	19.37:g.52888438delA	ENSP00000406318:p.Leu535fs		B4DNA6	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K537fs	ENST00000422689.2	37	c.1605	CCDS46164.1	19																																																																																			ZNF880	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000221923		0.403	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1		0.00	54	0	A	NM_001145434		52888438	+1	tier1		no_errors	ENST00000422689	ensembl	human	known	74_37	frame_shift_del	12.50	42	6	DEL	0.000	-
ZNF888	388559	genome.wustl.edu	37	19	53418494	53418494	+	lincRNA	SNP	A	A	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:53418494A>T	ENST00000596623.1	-	0	505							P0CJ79	ZN888_HUMAN	zinc finger protein 888						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACGTCTCTGTATAGAGTCCTC	0.468																																																	0													103.0	127.0	120.0					19																	53418494		876	1989	2865			0					19q13.41	2013-02-15			ENSG00000213793	ENSG00000213793		"""Zinc fingers, C2H2-type"", ""-"""	38695	protein-coding gene	gene with protein product							Standard	XM_005275849		Approved			P0CJ79			19.37:g.53418494A>T				RNA	SNP	-	NULL	ENST00000596623.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	-	7.567	0.665993	0.14710	.	.	ENSG00000213793	ENST00000454258	.	.	.	2.11	2.11	0.27256	.	.	.	.	.	D	0.86142	0.5862	H	0.99911	4.935	.	.	.	.	.	.	.	.	.	D	0.85731	0.1331	5	0.87932	D	0	.	5.2936	0.15741	0.8408:0.0:0.1592:0.0	.	.	.	.	N	33	.	ENSP00000401894:Y33N	Y	-	1	0	AC010487.1	58110306	0.955000	0.32602	0.015000	0.15790	0.005000	0.04900	2.226000	0.42963	0.968000	0.38212	0.327000	0.21459	TAC	ZNF888	-	-	ENSG00000213793		0.468	ZNF888-001	KNOWN	basic	lincRNA	ZNF888	HGNC	lincRNA	OTTHUMT00000463875.1	-	0.00	180	0	A	XM_496322		53418494	-1	tier1	-	no_errors	ENST00000454258	ensembl	human	known	74_37	rna	15.17	151	27	SNP	0.107	T
ZNF813	126017	genome.wustl.edu	37	19	53994005	53994005	+	Silent	SNP	A	A	G			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:53994005A>G	ENST00000396403.4	+	4	647	c.519A>G	c.(517-519)tcA>tcG	p.S173S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATGCTTCCTCAATTTCAACAT	0.393																																																	0													109.0	119.0	116.0					19																	53994005		2197	4294	6491	SO:0001819	synonymous_variant	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.519A>G	19.37:g.53994005A>G				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S173	ENST00000396403.4	37	c.519	CCDS46172.1	19																																																																																			ZNF813	-	NULL	ENSG00000198346		0.393	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	-	0.00	110	0	A	NM_001004301		53994005	+1	tier1	-	no_errors	ENST00000396403	ensembl	human	known	74_37	silent	16.33	82	16	SNP	0.009	G
ZNF773	374928	genome.wustl.edu	37	19	58018683	58018683	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:58018683G>T	ENST00000282292.4	+	4	1360	c.1220G>T	c.(1219-1221)aGg>aTg	p.R407M	ZNF773_ENST00000598770.1_Missense_Mutation_p.R406M|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AAACATCAGAGGGTTCACACT	0.423																																																	0													92.0	96.0	94.0					19																	58018683		2203	4300	6503	SO:0001583	missense	0			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1220G>T	19.37:g.58018683G>T	ENSP00000282292:p.Arg407Met		Q96DL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R407M	ENST00000282292.4	37	c.1220	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975410	0.34848	.	.	ENSG00000152439	ENST00000282292	T	0.25579	1.79	1.03	1.03	0.20045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47021	0.1423	M	0.76727	2.345	0.27880	N	0.939714	D;D	0.76494	0.999;0.999	D;D	0.79784	0.948;0.993	T	0.29027	-1.0025	9	0.72032	D	0.01	.	9.5666	0.39402	0.0:0.0:1.0:0.0	.	406;407	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	M	407	ENSP00000282292:R407M	ENSP00000282292:R407M	R	+	2	0	ZNF773	62710495	0.001000	0.12720	0.266000	0.24541	0.819000	0.46315	0.984000	0.29565	0.837000	0.34925	0.305000	0.20034	AGG	ZNF773	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152439		0.423	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	-	0.00	109	0	G	NM_198542		58018683	+1	tier1	-	no_errors	ENST00000282292	ensembl	human	known	74_37	missense	8.82	93	9	SNP	0.989	T
ZNRD1	30834	genome.wustl.edu	37	6	30030078	30030078	+	Silent	SNP	G	G	A			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:30030078G>A	ENST00000332435.5	+	3	595	c.324G>A	c.(322-324)ggG>ggA	p.G108G	ZNRD1-AS1_ENST00000452229.1_RNA|ZNRD1_ENST00000376782.2_Silent_p.G108G|ZNRD1_ENST00000359374.4_Silent_p.G108G|ZNRD1_ENST00000376785.2_Silent_p.G108G|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000431012.1_RNA	NM_170783.2	NP_740753.1	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	108					nucleobase-containing compound metabolic process (GO:0006139)|termination of RNA polymerase I transcription (GO:0006363)	DNA-directed RNA polymerase I complex (GO:0005736)	DNA-directed RNA polymerase activity (GO:0003899)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										CCGATGAAGGGCAAACTGTCT	0.478																																																	0													175.0	114.0	136.0					6																	30030078		1511	2709	4220	SO:0001819	synonymous_variant	0			AF024617	CCDS4670.1	6p21	2011-02-18	2006-04-04		ENSG00000066379	ENSG00000066379			13182	protein-coding gene	gene with protein product		607525	"""zinc ribbon domain containing, 1"""			8938444, 10662553	Standard	NM_170783		Approved	hZR14, HTEX-6, tctex-6, RPA12	uc003npa.3	Q9P1U0	OTTHUMG00000031149	ENST00000332435.5:c.324G>A	6.37:g.30030078G>A				Silent	SNP	pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS	p.G108	ENST00000332435.5	37	c.324	CCDS4670.1	6																																																																																			ZNRD1	-	pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS	ENSG00000066379		0.478	ZNRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRD1	HGNC	protein_coding	OTTHUMT00000076272.2	-	0.00	45	0	G			30030078	+1	tier1	-	no_errors	ENST00000332435	ensembl	human	known	74_37	silent	7.04	65	5	SNP	0.991	A
ZRANB1	54764	genome.wustl.edu	37	10	126670253	126670253	+	Intron	DEL	T	T	-	rs201912597		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:126670253delT	ENST00000359653.4	+	6	1798				ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TATTTATTTATTTTTTTACTA	0.269																																																	0													34.0	36.0	35.0					10																	126670253		2197	4298	6495	SO:0001627	intron_variant	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1428-25T>-	10.37:g.126670253delT			B4DZ98|D3DRF4|Q5SQP6|Q69YK3	RNA	DEL	-	NULL	ENST00000359653.4	37	NULL	CCDS7642.1	10																																																																																			ZRANB1	-	-	ENSG00000019995		0.269	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1		0.00	50	0	T	NM_017580		126670253	+1	tier1		no_errors	ENST00000471421	ensembl	human	known	74_37	rna	12.50	35	5	DEL	0.007	-
ZRANB3	84083	genome.wustl.edu	37	2	135985510	135985510	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:135985510delT	ENST00000264159.6	-	14	2146	c.2030delA	c.(2029-2031)aagfs	p.K677fs	ZRANB3_ENST00000536680.1_Frame_Shift_Del_p.K677fs|ZRANB3_ENST00000401392.1_Frame_Shift_Del_p.K677fs|ZRANB3_ENST00000412849.1_5'UTR	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	677					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGTTTGAACCTTTTTGGAGGT	0.368																																																	0													105.0	87.0	93.0					2																	135985510		1825	4063	5888	SO:0001589	frameshift_variant	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2030delA	2.37:g.135985510delT	ENSP00000264159:p.Lys677fs		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K677fs	ENST00000264159.6	37	c.2030	CCDS46419.1	2																																																																																			ZRANB3	-	NULL	ENSG00000121988		0.368	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1		0.00	89	0	T	NM_032143		135985510	-1	tier1		no_errors	ENST00000264159	ensembl	human	known	74_37	frame_shift_del	12.63	83	12	DEL	0.000	-
ZRANB3	84083	genome.wustl.edu	37	2	136103154	136103154	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:136103154C>T	ENST00000264159.6	-	6	759	c.643G>A	c.(643-645)Gac>Aac	p.D215N	ZRANB3_ENST00000536680.1_Missense_Mutation_p.D215N|ZRANB3_ENST00000401392.1_Missense_Mutation_p.D215N	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	215	DNA annealing helicase activity.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTTGCATAGTCGGTCCATCTT	0.299																																																	0													119.0	111.0	113.0					2																	136103154		1820	4077	5897	SO:0001583	missense	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.643G>A	2.37:g.136103154C>T	ENSP00000264159:p.Asp215Asn		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D215N	ENST00000264159.6	37	c.643	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198866	0.79015	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.93076	-3.16;-3.16;-3.16	5.04	5.04	0.67666	SNF2-related (1);	0.333926	0.38548	N	0.001646	D	0.92841	0.7723	L	0.49350	1.555	0.51767	D	0.999933	P;P;P	0.48764	0.915;0.659;0.612	P;B;B	0.46208	0.507;0.242;0.196	D	0.93476	0.6823	10	0.59425	D	0.04	-18.0496	18.7494	0.91807	0.0:1.0:0.0:0.0	.	155;215;215	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	N	215;215;215;155	ENSP00000383979:D215N;ENSP00000264159:D215N;ENSP00000441320:D215N	ENSP00000264159:D215N	D	-	1	0	ZRANB3	135819624	1.000000	0.71417	0.987000	0.45799	0.856000	0.48823	4.883000	0.63128	2.491000	0.84063	0.557000	0.71058	GAC	ZRANB3	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000121988		0.299	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	-	0.00	43	0	C	NM_032143		136103154	-1	tier1	-	no_errors	ENST00000264159	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	T
ZSCAN5C	649137	genome.wustl.edu	37	19	56719852	56719853	+	Frame_Shift_Ins	INS	-	-	A	rs1865102	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:56719852_56719853insA	ENST00000534327.1	+	5	923_924	c.774_775insA	c.(775-777)caafs	p.Q259fs	ZSCAN5C_ENST00000376267.1_Frame_Shift_Ins_p.Q259fs			A6NGD5	ZSA5C_HUMAN	zinc finger and SCAN domain containing 5C	259			Q -> K (in dbSNP:rs1865102).		regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|lung(6)|stomach(1)	8						GGAAGGAACCCCAAAAAAGAGC	0.51																																																	0																																										SO:0001589	frameshift_variant	0					19q13.43	2013-01-08			ENSG00000204532	ENSG00000204532		"""-"", ""Zinc fingers, C2H2-type"""	34294	protein-coding gene	gene with protein product							Standard	NG_012782		Approved	ZNF495C		A6NGD5	OTTHUMG00000167475	Exception_encountered	19.37:g.56719852_56719853insA	ENSP00000435234:p.Gln259fs			Frame_Shift_Ins	INS	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q258fs	ENST00000534327.1	37	c.774_775		19																																																																																			ZSCAN5C	-	NULL	ENSG00000204532		0.510	ZSCAN5C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ZSCAN5C	HGNC	protein_coding	OTTHUMT00000394739.1		0.00	85	0	0	XM_001131980		56719853	+1			no_errors	ENST00000376267	ensembl	human	known	74_37	frame_shift_ins	23.44	49	15	INS	0.007:0.010	A
ZSWIM8	23053	genome.wustl.edu	37	10	75560546	75560547	+	Intron	DEL	CC	CC	-			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:75560546_75560547delCC	ENST00000605216.1	+	24	5348				ZSWIM8_ENST00000604729.1_Intron|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Intron|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604524.1_Intron|ZSWIM8_ENST00000603114.1_Intron	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8								zinc ion binding (GO:0008270)										AGGACCATTGCCCCCCCCCCAC	0.614																																																	0																																										SO:0001627	intron_variant	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5131+29CC>-	10.37:g.75560554_75560555delCC			B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	RNA	DEL	-	NULL	ENST00000605216.1	37	NULL		10																																																																																			ZSWIM8	-	-	ENSG00000214655		0.614	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1		0.00	107	0	CC	NM_001242487		75560547	+1	tier1		no_errors	ENST00000603195	ensembl	human	known	74_37	rna	28.47	98	39	DEL	0.749:0.797	-
ZXDC	79364	genome.wustl.edu	37	3	126185160	126185160	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:126185160C>T	ENST00000389709.3	-	5	1332	c.1279G>A	c.(1279-1281)Gcg>Acg	p.A427T	ZXDC_ENST00000336332.5_Missense_Mutation_p.A427T	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	427					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GAGAACCTCGCGCAACATCCT	0.502																																																	0													56.0	61.0	59.0					3																	126185160		2100	4237	6337	SO:0001583	missense	0			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1279G>A	3.37:g.126185160C>T	ENSP00000374359:p.Ala427Thr		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A427T	ENST00000389709.3	37	c.1279	CCDS43145.1	3	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835059	0.71373	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.51574	0.7;0.7	5.29	5.29	0.74685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.64525	-0.6387	10	0.66056	D	0.02	-21.5159	16.7896	0.85584	0.0:1.0:0.0:0.0	.	427;427	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	T	427	ENSP00000374359:A427T;ENSP00000337694:A427T	ENSP00000337694:A427T	A	-	1	0	ZXDC	127667850	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	7.579000	0.82511	2.629000	0.89072	0.591000	0.81541	GCG	ZXDC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000070476		0.502	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZXDC	HGNC	protein_coding	OTTHUMT00000370327.2	-	0.00	49	0	C	NM_025112		126185160	-1	tier1	-	no_errors	ENST00000389709	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	T
