#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
ABHD17A	81926	genome.wustl.edu	37	19	1881527	1881527	+	Frame_Shift_Del	DEL	G	G	-	rs377128884		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:1881527delG	ENST00000292577.7	-	2	472	c.39delC	c.(37-39)ttcfs	p.F13fs	ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.F13delF(1)									GCGGGCAGCAGAAGAGGCAGC	0.756																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											9.0	13.0	11.0					19																	1881527		2041	4133	6174	SO:0001589	frameshift_variant	0			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.39delC	19.37:g.1881527delG	ENSP00000292577:p.Phe13fs		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	pfam_Dienelactn_hydro	p.C14fs	ENST00000292577.7	37	c.39	CCDS45902.1	19																																																																																			ABHD17A	-	NULL	ENSG00000129968		0.756	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0.00	20	0	G	NM_031213		1881527	-1	tier1		no_errors	ENST00000250974	ensembl	human	known	74_37	frame_shift_del	33.33	6	3	DEL	1.000	-
ABHD17A	81926	genome.wustl.edu	37	19	1881529	1881530	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:1881529_1881530delAG	ENST00000292577.7	-	2	469_470	c.36_37delCT	c.(34-39)ctcttcfs	p.F13fs	ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGGCAGCAGAAGAGGCAGCAGA	0.762																																																	0																																										SO:0001589	frameshift_variant	0			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.36_37delCT	19.37:g.1881531_1881532delAG	ENSP00000292577:p.Phe13fs		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	pfam_Dienelactn_hydro	p.F13fs	ENST00000292577.7	37	c.37_36	CCDS45902.1	19																																																																																			ABHD17A	-	NULL	ENSG00000129968		0.762	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0.00	20	0	AG	NM_031213		1881530	-1	tier1		no_errors	ENST00000250974	ensembl	human	known	74_37	frame_shift_del	33.33	6	3	DEL	1.000:0.997	-
ABRA	137735	genome.wustl.edu	37	8	107781944	107781944	+	Missense_Mutation	SNP	G	G	A	rs148548347		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:107781944G>A	ENST00000311955.3	-	1	529	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTCTCCTCCGCGTTGGGGAG	0.577																																																	0								G	TRP/ARG	0,4406		0,0,2203	208.0	186.0	193.0		475	5.1	0.9	8	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABRA	NM_139166.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	159/382	107781944	1,13005	2203	4300	6503	SO:0001583	missense	0			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.475C>T	8.37:g.107781944G>A	ENSP00000311436:p.Arg159Trp			Missense_Mutation	SNP	NULL	p.R159W	ENST00000311955.3	37	c.475	CCDS6305.1	8	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395952	0.62177	0.0	1.16E-4	ENSG00000174429	ENST00000311955	D	0.93488	-3.23	6.07	5.12	0.69794	.	0.100578	0.64402	D	0.000004	D	0.95322	0.8482	M	0.63843	1.955	0.53005	D	0.999964	D	0.89917	1.0	D	0.69824	0.966	D	0.94803	0.7972	10	0.72032	D	0.01	-13.0205	11.8862	0.52604	0.0:0.0:0.6313:0.3687	.	159	Q8N0Z2	ABRA_HUMAN	W	159	ENSP00000311436:R159W	ENSP00000311436:R159W	R	-	1	2	ABRA	107851120	0.999000	0.42202	0.940000	0.37924	0.330000	0.28571	3.236000	0.51336	2.884000	0.98904	0.655000	0.94253	CGG	ABRA	-	NULL	ENSG00000174429		0.577	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABRA	HGNC	protein_coding	OTTHUMT00000380416.1	-	0.00	107	0	G	NM_139166		107781944	-1	tier1	rs148548347	no_errors	ENST00000311955	ensembl	human	known	74_37	missense	21.36	81	22	SNP	0.985	A
ACBD5	91452	genome.wustl.edu	37	10	27524039	27524039	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:27524039G>T	ENST00000375888.1	-	2	342	c.278C>A	c.(277-279)cCt>cAt	p.P93H	ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000396271.3_Missense_Mutation_p.P95H|AL160291.1_ENST00000578607.1_RNA|ACBD5_ENST00000375901.1_Intron|RNU7-12P_ENST00000516030.1_RNA|ACBD5_ENST00000375905.4_Missense_Mutation_p.P60H|ACBD5_ENST00000476758.1_Intron			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	93	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCTTCCAATAGGATCCCAAAA	0.313																																																	0													55.0	55.0	55.0					10																	27524039		2203	4300	6503	SO:0001583	missense	0			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.278C>A	10.37:g.27524039G>T	ENSP00000365049:p.Pro93His		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	p.P93H	ENST00000375888.1	37	c.278		10	.	.	.	.	.	.	.	.	.	.	G	24.8	4.565743	0.86439	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.49	5.49	0.81192	.	0.046449	0.85682	D	0.000000	T	0.61248	0.2332	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66567	-0.5891	10	0.52906	T	0.07	-13.4941	19.7382	0.96215	0.0:0.0:1.0:0.0	.	95;93	Q5T8D3-3;B7Z2R7	.;.	H	90;95;60;93;102;60	ENSP00000379568:P95H;ENSP00000365070:P60H;ENSP00000365049:P93H;ENSP00000401591:P102H;ENSP00000393398:P60H	ENSP00000365049:P93H	P	-	2	0	ACBD5	27564045	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.124000	0.71620	2.741000	0.93983	0.585000	0.79938	CCT	ACBD5	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	ENSG00000107897		0.313	ACBD5-005	KNOWN	basic	protein_coding	ACBD5	HGNC	protein_coding	OTTHUMT00000047314.1		0.00	29	0	G	NM_145698		27524039	-1			no_errors	ENST00000375888	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
ACOT12	134526	genome.wustl.edu	37	5	80628300	80628300	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:80628300C>A	ENST00000307624.3	-	13	1415	c.1387G>T	c.(1387-1389)Gat>Tat	p.D463Y	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	463	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ACTCACCCATCTTTGAGGGGT	0.353																																																	0													140.0	120.0	127.0					5																	80628300		2203	4300	6503	SO:0001583	missense	0			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1387G>T	5.37:g.80628300C>A	ENSP00000303246:p.Asp463Tyr		B3KVK9|Q5FWE9	Missense_Mutation	SNP	pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.D463Y	ENST00000307624.3	37	c.1387	CCDS4055.1	5	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472862	0.26423	.	.	ENSG00000172497	ENST00000307624	T	0.78595	-1.19	5.55	3.75	0.43078	Lipid-binding START (2);START-like domain (1);	0.638657	0.15870	N	0.240575	D	0.84624	0.5513	M	0.76574	2.34	0.22629	N	0.998915	D	0.53619	0.961	D	0.64877	0.93	T	0.74003	-0.3804	10	0.66056	D	0.02	.	7.0899	0.25277	0.1707:0.742:0.0:0.0872	.	463	Q8WYK0	ACO12_HUMAN	Y	463	ENSP00000303246:D463Y	ENSP00000303246:D463Y	D	-	1	0	ACOT12	80664056	0.006000	0.16342	0.002000	0.10522	0.032000	0.12392	0.778000	0.26732	0.792000	0.33850	0.561000	0.74099	GAT	ACOT12	-	pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	ENSG00000172497		0.353	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT12	HGNC	protein_coding	OTTHUMT00000254074.1	-	0.00	34	0	C	NM_130767		80628300	-1	tier1	-	no_errors	ENST00000307624	ensembl	human	known	74_37	missense	15.15	56	10	SNP	0.029	A
ADAM32	203102	genome.wustl.edu	37	8	39007314	39007314	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:39007314A>T	ENST00000379907.4	+	5	408	c.281A>T	c.(280-282)cAa>cTa	p.Q94L	ADAM32_ENST00000437682.2_Missense_Mutation_p.Q101L|ADAM32_ENST00000519315.1_Missense_Mutation_p.Q94L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	94						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TCCTAGACTCAATGCTACTAT	0.348																																																	0													112.0	103.0	106.0					8																	39007314		1868	4107	5975	SO:0001583	missense	0			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.281A>T	8.37:g.39007314A>T	ENSP00000369238:p.Gln94Leu		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.Q94L	ENST00000379907.4	37	c.281	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701452	0.48307	.	.	ENSG00000197140	ENST00000523400;ENST00000399831;ENST00000437682;ENST00000519315;ENST00000379907;ENST00000522506;ENST00000521741;ENST00000399826	T;T;T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34;3.34;3.34	5.16	5.16	0.70880	Peptidase M12B, propeptide (1);	0.263300	0.19952	N	0.102403	T	0.06872	0.0175	L	0.35644	1.08	0.18873	N	0.999987	B;B;B	0.19445	0.036;0.036;0.03	B;B;B	0.25987	0.03;0.05;0.065	T	0.31308	-0.9948	10	0.25751	T	0.34	.	11.6578	0.51328	1.0:0.0:0.0:0.0	.	101;94;94	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	L	125;94;101;94;94;94;20;95	ENSP00000427735:Q125L;ENSP00000382727:Q94L;ENSP00000405978:Q101L;ENSP00000429422:Q94L;ENSP00000369238:Q94L;ENSP00000429066:Q94L;ENSP00000431050:Q20L	ENSP00000369238:Q94L	Q	+	2	0	ADAM32	39126471	0.005000	0.15991	0.156000	0.22583	0.784000	0.44337	2.050000	0.41297	2.083000	0.62718	0.533000	0.62120	CAA	ADAM32	-	pfam_Peptidase_M12B_N	ENSG00000197140		0.348	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	-	0.00	38	0	A	NM_145004		39007314	+1	tier1	-	no_errors	ENST00000379907	ensembl	human	known	74_37	missense	20.00	32	8	SNP	0.278	T
ADCY2	108	genome.wustl.edu	37	5	7520985	7520985	+	Silent	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:7520985G>A	ENST00000338316.4	+	3	632	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	181					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						CTGCAACACCGGGAGGCAAGG	0.612																																																	0													166.0	112.0	131.0					5																	7520985		2203	4300	6503	SO:0001819	synonymous_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.543G>A	5.37:g.7520985G>A			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P181	ENST00000338316.4	37	c.543	CCDS3872.2	5																																																																																			ADCY2	-	NULL	ENSG00000078295		0.612	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	-	0.00	79	0	G	NM_020546		7520985	+1	tier1	-	no_errors	ENST00000338316	ensembl	human	known	74_37	silent	12.90	81	12	SNP	0.000	A
ALDH3B1	221	genome.wustl.edu	37	11	67787219	67787219	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:67787219G>C	ENST00000539229.1	+	7	629	c.513G>C	c.(511-513)gaG>gaC	p.E171D	ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E171D|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Missense_Mutation_p.E171D|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E135D	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	172					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										GGCCCCAGGAGACGGGGCAGC	0.657																																																	0													88.0	102.0	97.0					11																	67787219		2199	4294	6493	SO:0001583	missense	0			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.513G>C	11.37:g.67787219G>C	ENSP00000474034:p.Glu171Asp		A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.E171D	ENST00000539229.1	37	c.513		11																																																																																			ALDH3B1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000006534		0.657	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	ALDH3B1	HGNC	protein_coding		-	0.00	142	0	G	NM_000694		67787219	+1	tier1	-	no_errors	ENST00000007633	ensembl	human	known	74_37	missense	17.76	125	27	SNP	0.993	C
ANAPC2	29882	genome.wustl.edu	37	9	140070157	140070157	+	Intron	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:140070157C>A	ENST00000323927.2	-	11	2025				ANAPC2_ENST00000487917.1_Intron	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTGGTGGGCTCACCTTGGTCC	0.672																																																	0													47.0	43.0	44.0					9																	140070157		2194	4296	6490	SO:0001627	intron_variant	0			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.2020+2G>T	9.37:g.140070157C>A			Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	RNA	SNP	-	NULL	ENST00000323927.2	37	NULL	CCDS7033.1	9																																																																																			ANAPC2	-	-	ENSG00000176248		0.672	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	-	0.00	122	0	C	NM_013366		140070157	-1	tier1	-	no_errors	ENST00000483432	ensembl	human	known	74_37	rna	11.58	83	11	SNP	0.927	A
ANK2	287	genome.wustl.edu	37	4	114293758	114293758	+	Intron	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr4:114293758G>T	ENST00000357077.4	+	44	11663				ANK2_ENST00000264366.6_Intron|ANK2_ENST00000510275.2_Missense_Mutation_p.V461F|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						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)		TACCAGGGTTGTCCGCCGGCG	0.502																																																	0																																										SO:0001627	intron_variant	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.11611-488G>T	4.37:g.114293758G>T			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	p.V461F	ENST00000357077.4	37	c.1381	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.648|9.648	1.140743|1.140743	0.21205|0.21205	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000431447;ENST00000510275	.|D	.|0.86097	.|-2.07	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|.	.|.	.|.	.|.	D|D	0.87116|0.87116	0.6097|0.6097	.|.	.|.	.|.	0.30708|0.30708	N|N	0.749533|0.749533	.|D;D	.|0.63046	.|0.992;0.974	.|P;P	.|0.62298	.|0.9;0.66	T|T	0.80108|0.80108	-0.1520|-0.1520	4|8	.|0.09843	.|T	.|0.71	.|.	15.3131|15.3131	0.74053|0.74053	0.0684:0.0:0.9316:0.0|0.0684:0.0:0.9316:0.0	.|.	.|844;810	.|F8W694;Q7Z344	.|.;.	F|F	810|844;461	.|ENSP00000421023:V461F	.|ENSP00000413959:V844F	C|V	+|+	2|1	0|0	ANK2|ANK2	114513207|114513207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.976000|3.976000	0.56867|0.56867	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	TGT|GTC	ANK2	-	NULL	ENSG00000145362		0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0.00	45	0	G	NM_001148		114293758	+1			no_errors	ENST00000510275	ensembl	human	novel	74_37	missense	9.26	49	5	SNP	1.000	T
ANTXR1	84168	genome.wustl.edu	37	2	69351771	69351771	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:69351771A>G	ENST00000303714.4	+	12	1269	c.947A>G	c.(946-948)cAc>cGc	p.H316R	ANTXR1_ENST00000409349.3_Missense_Mutation_p.H316R|ANTXR1_ENST00000409829.3_Missense_Mutation_p.H316R	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	316					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCACCACACACTGTGTAAGT	0.433									Familial Infantile Hemangioma																																								0													253.0	213.0	227.0					2																	69351771		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.947A>G	2.37:g.69351771A>G	ENSP00000301945:p.His316Arg		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.H316R	ENST00000303714.4	37	c.947	CCDS1892.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.47|11.47	1.647194|1.647194	0.29246|0.29246	.|.	.|.	ENSG00000169604|ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349|ENST00000482235	D;D;D|.	0.85339|.	-1.97;-1.97;-1.97|.	5.3|5.3	4.14|4.14	0.48551|0.48551	Anthrax toxin receptor, extracellular (1);|.	0.371381|.	0.33753|.	N|.	0.004581|.	T|T	0.37945|0.37945	0.1022|0.1022	N|N	0.16478|0.16478	0.41|0.41	0.37311|0.37311	D|D	0.909111|0.909111	B;B;B|.	0.09022|.	0.002;0.001;0.001|.	B;B;B|.	0.12156|.	0.004;0.007;0.001|.	T|T	0.31166|0.31166	-0.9953|-0.9953	10|5	0.28530|.	T|.	0.3|.	-16.6491|-16.6491	8.6642|8.6642	0.34110|0.34110	0.9061:0.0:0.0939:0.0|0.9061:0.0:0.0939:0.0	.|.	316;316;316|.	Q9H6X2;Q9H6X2-2;Q9H6X2-4|.	ANTR1_HUMAN;.;.|.	R|A	316|148	ENSP00000301945:H316R;ENSP00000387058:H316R;ENSP00000386494:H316R|.	ENSP00000301945:H316R|.	H|T	+|+	2|1	0|0	ANTXR1|ANTXR1	69205275|69205275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.810000|2.810000	0.47979|0.47979	1.024000|1.024000	0.39682|0.39682	0.533000|0.533000	0.62120|0.62120	CAC|ACT	ANTXR1	-	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel	ENSG00000169604		0.433	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR1	HGNC	protein_coding	OTTHUMT00000251770.2	-	0.00	57	0	A	NM_032208		69351771	+1	tier1	-	no_errors	ENST00000303714	ensembl	human	known	74_37	missense	18.31	58	13	SNP	1.000	G
ARHGAP31	57514	genome.wustl.edu	37	3	119120938	119120938	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:119120938G>A	ENST00000264245.4	+	10	1871	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	447					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CGAGCAAACAGCCCCAAAGAT	0.597																																					Pancreas(7;176 297 5394 51128 51241)												0													77.0	89.0	85.0					3																	119120938		2013	4164	6177	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1339G>A	3.37:g.119120938G>A	ENSP00000264245:p.Ala447Thr		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A447T	ENST00000264245.4	37	c.1339	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587589	0.66105	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07800	3.16	5.26	4.32	0.51571	.	0.076888	0.52532	D	0.000076	T	0.09423	0.0232	L	0.57536	1.79	0.38315	D	0.943353	P	0.35077	0.483	B	0.30943	0.122	T	0.05068	-1.0908	10	0.51188	T	0.08	.	10.859	0.46815	0.0:0.0:0.6797:0.3203	.	447	Q2M1Z3	RHG31_HUMAN	T	447	ENSP00000264245:A447T	ENSP00000264245:A447T	A	+	1	0	ARHGAP31	120603628	1.000000	0.71417	0.980000	0.43619	0.901000	0.52897	5.187000	0.65087	2.733000	0.93635	0.655000	0.94253	GCC	ARHGAP31	-	NULL	ENSG00000031081		0.597	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2		0.00	32	0	G			119120938	+1			no_errors	ENST00000264245	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.999	A
ASNS	440	genome.wustl.edu	37	7	97482391	97482391	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:97482391T>C	ENST00000394309.3	-	12	1928	c.1457A>G	c.(1456-1458)cAg>cGg	p.Q486R	ASNS_ENST00000422745.1_Missense_Mutation_p.Q465R|ASNS_ENST00000394308.3_Missense_Mutation_p.Q486R|ASNS_ENST00000175506.4_Missense_Mutation_p.Q486R|ASNS_ENST00000455086.1_Missense_Mutation_p.Q403R|ASNS_ENST00000437628.1_Missense_Mutation_p.Q403R|ASNS_ENST00000444334.1_Missense_Mutation_p.Q465R	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	486	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AACGTATTCCTGTAAAATCTT	0.358																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												0													40.0	38.0	39.0					7																	97482391		2203	4300	6503	SO:0001583	missense	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1457A>G	7.37:g.97482391T>C	ENSP00000377846:p.Gln486Arg		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.Q486R	ENST00000394309.3	37	c.1457	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	T	13.49	2.251483	0.39797	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.42131	0.99;0.99;0.98;0.99;0.98;0.98;0.98	3.63	3.63	0.41609	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	L	0.33245	0.995	0.58432	D	0.999999	B	0.12630	0.006	B	0.18871	0.023	T	0.19877	-1.0292	10	0.56958	D	0.05	-20.7808	10.8782	0.46923	0.0:0.0:0.0:1.0	.	486	P08243	ASNS_HUMAN	R	486;486;403;486;465;403;465	ENSP00000175506:Q486R;ENSP00000377846:Q486R;ENSP00000414379:Q403R;ENSP00000377845:Q486R;ENSP00000414901:Q465R;ENSP00000408472:Q403R;ENSP00000406994:Q465R	ENSP00000175506:Q486R	Q	-	2	0	ASNS	97320327	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.107000	0.64603	1.879000	0.54435	0.459000	0.35465	CAG	ASNS	-	NULL	ENSG00000070669		0.358	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1		0.00	32	0	T	NM_001673, NM_183356		97482391	-1			no_errors	ENST00000175506	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	C
ATP8A2	51761	genome.wustl.edu	37	13	26343263	26343263	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr13:26343263G>A	ENST00000381655.2	+	26	2606	c.2464G>A	c.(2464-2466)Ggc>Agc	p.G822S	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G782S|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	782					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CATCGGAGACGGCGCCAACGA	0.562																																																	0													95.0	101.0	99.0					13																	26343263		2130	4224	6354	SO:0001583	missense	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2464G>A	13.37:g.26343263G>A	ENSP00000371070:p.Gly822Ser		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G822S	ENST00000381655.2	37	c.2464	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.548552	0.96488	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.64260	-0.09;-0.09	6.17	6.17	0.99709	HAD-like domain (2);	0.049028	0.85682	D	0.000000	D	0.87916	0.6298	H	0.97564	4.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.90785	0.4682	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	782;602;782	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	S	822;782;602	ENSP00000371070:G822S;ENSP00000255283:G782S	ENSP00000255283:G782S	G	+	1	0	ATP8A2	25241263	1.000000	0.71417	0.976000	0.42696	0.803000	0.45373	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGC	ATP8A2	-	superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000132932		0.562	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	-	0.00	73	0	G	NM_016529		26343263	+1	tier1	-	no_errors	ENST00000381655	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	A
B4GALNT1	2583	genome.wustl.edu	37	12	58022875	58022875	+	Missense_Mutation	SNP	G	G	A	rs200510000		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:58022875G>A	ENST00000341156.4	-	7	1351	c.767C>T	c.(766-768)cCg>cTg	p.P256L	B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.P201L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	256					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGGGTTGGGCGGGTGTCTTAT	0.577																																																	0								G	LEU/PRO	0,4406		0,0,2203	68.0	63.0	65.0		767	4.3	0.8	12		65	5,8595		0,5,4295	yes	missense	B4GALNT1	NM_001478.3	98	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	256/534	58022875	5,13001	2203	4300	6503	SO:0001583	missense	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.767C>T	12.37:g.58022875G>A	ENSP00000341562:p.Pro256Leu		B4DE26|Q8N636	Missense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.P256L	ENST00000341156.4	37	c.767	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	.	12.59	1.984464	0.35036	0.0	5.81E-4	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.19105	2.17;2.22	5.23	4.34	0.51931	.	0.456770	0.22088	N	0.064790	T	0.16896	0.0406	L	0.39147	1.195	0.28489	N	0.914586	B;B	0.15473	0.013;0.006	B;B	0.10450	0.002;0.005	T	0.13602	-1.0503	10	0.21540	T	0.41	-8.1271	10.9142	0.47126	0.0888:0.0:0.9112:0.0	.	201;256	B4DE26;Q00973	.;B4GN1_HUMAN	L	256;201	ENSP00000341562:P256L;ENSP00000401601:P201L	ENSP00000341562:P256L	P	-	2	0	B4GALNT1	56309142	0.965000	0.33210	0.819000	0.32651	0.622000	0.37654	4.056000	0.57448	1.215000	0.43411	0.655000	0.94253	CCG	B4GALNT1	-	pirsf_GM2_synthase	ENSG00000135454		0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	-	0.00	64	0	G	NM_001478		58022875	-1	tier1	rs200510000	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.038	A
BBS4	585	genome.wustl.edu	37	15	73029250	73029250	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr15:73029250C>G	ENST00000268057.4	+	15	1437	c.1396C>G	c.(1396-1398)Caa>Gaa	p.Q466E	BBS4_ENST00000542334.1_Missense_Mutation_p.Q294E|BBS4_ENST00000395205.2_Missense_Mutation_p.Q474E|BBS4_ENST00000539603.1_Missense_Mutation_p.Q454E	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	466	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GGGCTCTAATCAAGCTCTAGG	0.532									Bardet-Biedl syndrome																																								0													161.0	162.0	162.0					15																	73029250		2198	4297	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1396C>G	15.37:g.73029250C>G	ENSP00000268057:p.Gln466Glu		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q474E	ENST00000268057.4	37	c.1420	CCDS10246.1	15	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137088	0.56936	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.86	3.96	0.45880	.	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	L	0.55103	1.725	0.45648	D	0.998573	B;B;B	0.31931	0.347;0.347;0.236	B;B;B	0.26416	0.069;0.069;0.039	T	0.78430	-0.2207	10	0.17369	T	0.5	-12.5148	10.0223	0.42051	0.0:0.7903:0.1377:0.0719	.	454;474;466	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	E	294;466;454;474	ENSP00000445964:Q294E;ENSP00000268057:Q466E;ENSP00000442492:Q454E;ENSP00000378631:Q474E	ENSP00000268057:Q466E	Q	+	1	0	BBS4	70816303	1.000000	0.71417	0.781000	0.31783	0.993000	0.82548	5.958000	0.70330	0.810000	0.34279	0.655000	0.94253	CAA	BBS4	-	NULL	ENSG00000140463		0.532	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS4	HGNC	protein_coding	OTTHUMT00000257473.2		0.00	31	0	C	NM_033028		73029250	+1			no_errors	ENST00000395205	ensembl	human	known	74_37	missense	7.32	37	3	SNP	1.000	G
C9orf131	138724	genome.wustl.edu	37	9	35043395	35043395	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:35043395G>T	ENST00000312292.5	+	2	816	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.A209S|C9orf131_ENST00000354479.5_Missense_Mutation_p.A184S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	257										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TACCCATGGGGCCCATACTAT	0.517																																																	0													143.0	133.0	136.0					9																	35043395		2203	4300	6503	SO:0001583	missense	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.769G>T	9.37:g.35043395G>T	ENSP00000308279:p.Ala257Ser		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.A257S	ENST00000312292.5	37	c.769	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332846	0.60853	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	T;T;T;T	0.35789	2.24;2.23;2.25;1.29	4.95	2.88	0.33553	.	1.016850	0.07898	N	0.972111	T	0.40297	0.1111	L	0.55481	1.735	0.09310	N	1	P;P;P	0.50819	0.939;0.939;0.939	B;P;P	0.48627	0.445;0.584;0.584	T	0.28744	-1.0034	10	0.72032	D	0.01	-0.2094	5.6979	0.17865	0.2601:0.0:0.7399:0.0	.	257;184;209	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	S	209;184;257;222	ENSP00000393683:A209S;ENSP00000346472:A184S;ENSP00000308279:A257S;ENSP00000368019:A222S	ENSP00000308279:A257S	A	+	1	0	C9orf131	35033395	0.001000	0.12720	0.019000	0.16419	0.136000	0.21042	0.300000	0.19156	1.246000	0.43901	0.650000	0.86243	GCC	C9orf131	-	NULL	ENSG00000174038		0.517	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	-	0.00	43	0	G	NM_203299		35043395	+1	tier1	-	no_errors	ENST00000312292	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.004	T
CCDC73	493860	genome.wustl.edu	37	11	32635220	32635220	+	Missense_Mutation	SNP	C	C	T	rs201070131		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:32635220C>T	ENST00000335185.5	-	16	2687	c.2644G>A	c.(2644-2646)Gga>Aga	p.G882R	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	882										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)					GTTGACCTTCCGCTTCTGTTT	0.368																																																	0													146.0	139.0	142.0					11																	32635220		1837	4082	5919	SO:0001583	missense	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.2644G>A	11.37:g.32635220C>T	ENSP00000335325:p.Gly882Arg		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	NULL	p.G882R	ENST00000335185.5	37	c.2644	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459932	0.84317	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.49	5.49	0.81192	.	0.207947	0.33670	N	0.004666	T	0.73753	0.3627	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.75883	-0.3160	9	0.87932	D	0	.	17.5512	0.87876	0.0:1.0:0.0:0.0	.	882	Q6ZRK6	CCD73_HUMAN	R	882	.	ENSP00000335325:G882R	G	-	1	0	CCDC73	32591796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.257000	0.51500	2.568000	0.86640	0.650000	0.86243	GGA	CCDC73	-	NULL	ENSG00000186714		0.368	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	-	0.00	67	0	C	NM_001008391		32635220	-1	tier1	rs201070131	no_errors	ENST00000335185	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	T
CD63	967	genome.wustl.edu	37	12	56121049	56121049	+	Silent	SNP	A	A	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:56121049A>G	ENST00000549117.1	-	3	577	c.141T>C	c.(139-141)gcT>gcC	p.A47A	CD63_ENST00000257857.4_Silent_p.A47A|CD63_ENST00000548898.1_5'Flank|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000552692.1_Silent_p.A47A|CD63_ENST00000552754.1_Silent_p.A24A|CD63_ENST00000552067.1_5'Flank|CD63_ENST00000420846.3_Silent_p.A47A|CD63_ENST00000548160.1_5'Flank|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000550776.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	47					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AGCCAGGGGTAGCCCCCTGGA	0.567																																					Pancreas(123;1459 1747 6717 18841 37380)												0													101.0	99.0	100.0					12																	56121049		2203	4300	6503	SO:0001819	synonymous_variant	0			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.141T>C	12.37:g.56121049A>G			F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.A47	ENST00000549117.1	37	c.141	CCDS8890.1	12																																																																																			CD63	-	pfam_Tetraspanin/Peripherin	ENSG00000135404		0.567	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD63	HGNC	protein_coding	OTTHUMT00000409234.1		0.00	31	0	A			56121049	-1			no_errors	ENST00000257857	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.001	G
CDC42BPB	9578	genome.wustl.edu	37	14	103433438	103433438	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr14:103433438C>T	ENST00000361246.2	-	17	2704	c.2416G>A	c.(2416-2418)Gcc>Acc	p.A806T		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCTTCTTGGCTGCCAGATCC	0.522																																																	0													85.0	79.0	81.0					14																	103433438		2203	4300	6503	SO:0001583	missense	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2416G>A	14.37:g.103433438C>T	ENSP00000355237:p.Ala806Thr			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.A806T	ENST00000361246.2	37	c.2416	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022138	0.35701	.	.	ENSG00000198752	ENST00000361246	T	0.40476	1.03	5.32	3.23	0.37069	.	0.159877	0.64402	D	0.000020	T	0.36386	0.0965	L	0.51422	1.61	0.41333	D	0.987258	B	0.15930	0.015	B	0.17098	0.017	T	0.12785	-1.0534	10	0.18276	T	0.48	.	14.0489	0.64722	0.3333:0.6666:0.0:0.0	.	806	Q9Y5S2	MRCKB_HUMAN	T	806	ENSP00000355237:A806T	ENSP00000355237:A806T	A	-	1	0	CDC42BPB	102503191	0.947000	0.32204	0.811000	0.32455	0.977000	0.68977	2.199000	0.42715	0.510000	0.28216	0.655000	0.94253	GCC	CDC42BPB	-	NULL	ENSG00000198752		0.522	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	-	0.00	55	0	C	NM_006035		103433438	-1	tier1	-	no_errors	ENST00000361246	ensembl	human	known	74_37	missense	11.76	75	10	SNP	0.992	T
CDH7	1005	genome.wustl.edu	37	18	63430163	63430163	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr18:63430163C>A	ENST00000397968.2	+	2	511	c.85C>A	c.(85-87)Ctc>Atc	p.L29I	CDH7_ENST00000323011.3_Missense_Mutation_p.L29I|CDH7_ENST00000536984.2_Missense_Mutation_p.L29I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	29					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCAAGCAGAACTCTCAAGGTC	0.463																																																	0													109.0	104.0	106.0					18																	63430163		2203	4300	6503	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.85C>A	18.37:g.63430163C>A	ENSP00000381058:p.Leu29Ile		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L29I	ENST00000397968.2	37	c.85	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625096	0.28889	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.55052	0.54;0.56;0.54	5.56	5.56	0.83823	.	0.275184	0.31335	N	0.007824	T	0.43831	0.1265	L	0.36672	1.1	0.30297	N	0.789852	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.33904	-0.9850	10	0.24483	T	0.36	.	15.856	0.78977	0.136:0.864:0.0:0.0	.	29;29	F5H5X9;Q9ULB5	.;CADH7_HUMAN	I	29	ENSP00000319166:L29I;ENSP00000443030:L29I;ENSP00000381058:L29I	ENSP00000319166:L29I	L	+	1	0	CDH7	61581143	0.245000	0.23899	0.941000	0.38009	0.823000	0.46562	0.711000	0.25764	2.610000	0.88304	0.650000	0.86243	CTC	CDH7	-	NULL	ENSG00000081138		0.463	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	-	0.00	53	0	C	NM_033646		63430163	+1	tier1	-	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	16.13	52	10	SNP	0.996	A
CEACAM3	1084	genome.wustl.edu	37	19	42314366	42314366	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:42314366G>T	ENST00000357396.3	+	5	842	c.601G>T	c.(601-603)Ggt>Tgt	p.G201C	CEACAM3_ENST00000221999.4_Missense_Mutation_p.W183L|CEACAM3_ENST00000344550.4_Missense_Mutation_p.W183L	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	201						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TCCAGGCCGTGGTCCCTCCCA	0.617																																																	0													161.0	100.0	121.0					19																	42314366		2203	4299	6502	SO:0001583	missense	0			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.601G>T	19.37:g.42314366G>T	ENSP00000349971:p.Gly201Cys		G5E978|Q3KPH9	Missense_Mutation	SNP	pfam_Ig_V-set	p.G201C	ENST00000357396.3	37	c.601	CCDS12586.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.79|10.79	1.450647|1.450647	0.26074|0.26074	.|.	.|.	ENSG00000170956|ENSG00000170956	ENST00000357396|ENST00000221999;ENST00000344550	T|T;T	0.01287|0.01076	5.05|5.37;5.37	2.0|2.0	-1.56|-1.56	0.08532|0.08532	.|.	.|.	.|.	.|.	.|.	T|T	0.02193|0.02193	0.0068|0.0068	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	D|P	0.76494|0.47962	0.999|0.903	D|P	0.68192|0.50049	0.956|0.629	T|T	0.40098|0.40098	-0.9581|-0.9581	9|9	0.54805|0.87932	T|D	0.06|0	.|.	5.0161|5.0161	0.14337|0.14337	0.5354:0.0:0.4646:0.0|0.5354:0.0:0.4646:0.0	.|.	201|183	P40198|G5E978	CEAM3_HUMAN|.	C|L	201|183	ENSP00000349971:G201C|ENSP00000221999:W183L;ENSP00000341725:W183L	ENSP00000349971:G201C|ENSP00000221999:W183L	G|W	+|+	1|2	0|0	CEACAM3|CEACAM3	47006206|47006206	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.599000|0.599000	0.24089|0.24089	-0.310000|-0.310000	0.08766|0.08766	-0.481000|-0.481000	0.04817|0.04817	GGT|TGG	CEACAM3	-	NULL	ENSG00000170956		0.617	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM3	HGNC	protein_coding	OTTHUMT00000316509.2		0.00	74	0	G	NM_001815		42314366	+1			no_errors	ENST00000357396	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	T
CEP170B	283638	genome.wustl.edu	37	14	105360904	105360904	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr14:105360904C>T	ENST00000414716.3	+	18	4624	c.4396C>T	c.(4396-4398)Cgg>Tgg	p.R1466W	CEP170B_ENST00000453495.1_Missense_Mutation_p.R1502W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1431W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1396W	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1501						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGAACTGAGGCGGGTGCAGAA	0.632																																																	0													43.0	55.0	51.0					14																	105360904		2057	4183	6240	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.4396C>T	14.37:g.105360904C>T	ENSP00000404151:p.Arg1466Trp		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R1502W	ENST00000414716.3	37	c.4504	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590424	0.46214	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.60299	0.26;0.21;0.2;0.3	4.76	0.118	0.14667	.	0.058952	0.64402	D	0.000006	T	0.70002	0.3174	M	0.73962	2.25	0.39967	D	0.974745	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.984	T	0.70371	-0.4890	10	0.87932	D	0	-14.4513	8.5276	0.33315	0.6062:0.2719:0.1218:0.0	.	1466;1501;1396	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	W	1431;1466;1502;1396;134	ENSP00000451249:R1431W;ENSP00000404151:R1466W;ENSP00000407238:R1502W;ENSP00000415006:R1396W	ENSP00000251181:R118W	R	+	1	2	KIAA0284	104431949	0.990000	0.36364	0.042000	0.18584	0.320000	0.28249	1.820000	0.39032	0.160000	0.19432	-0.315000	0.08773	CGG	CEP170B	-	NULL	ENSG00000099814		0.632	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2	-	0.00	106	0	C	NM_001112726		105360904	+1	tier1	-	no_errors	ENST00000453495	ensembl	human	known	74_37	missense	8.54	75	7	SNP	0.906	T
CEPT1	10390	genome.wustl.edu	37	1	111703575	111703576	+	Intron	INS	-	-	A	rs71096395|rs397808502|rs571497696	byFrequency	TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:111703575_111703576insA	ENST00000545121.1	+	4	695				CEPT1_ENST00000357172.4_Intron	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AGTGATTTGGTAAAAAAAAAAA	0.297																																																	0																																										SO:0001627	intron_variant	0			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.488-201->A	1.37:g.111703586_111703586dupA			Q69YJ9|Q9P0Y8	RNA	INS	-	NULL	ENST00000545121.1	37	NULL	CCDS830.1	1																																																																																			CEPT1	-	-	ENSG00000134255		0.297	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2		0.00	16	0	-	NM_006090		111703576	+1	tier1		no_errors	ENST00000480324	ensembl	human	known	74_37	rna	21.05	15	4	INS	0.073:0.207	A
C2	717	genome.wustl.edu	37	6	31912622	31912622	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:31912622C>A	ENST00000299367.5	+	16	2297	c.2021C>A	c.(2020-2022)cCc>cAc	p.P674H	C2_ENST00000469372.1_Missense_Mutation_p.P428H|CFB_ENST00000456570.1_Missense_Mutation_p.P521H|C2_ENST00000442278.2_Missense_Mutation_p.P542H|CFB_ENST00000477310.1_Missense_Mutation_p.P445H|C2_ENST00000468407.1_3'UTR|C2_ENST00000452323.2_Missense_Mutation_p.P460H|CFB_ENST00000556679.1_Missense_Mutation_p.P521H|CFB_ENST00000425368.2_5'Flank	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	674	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GATGAGAGTCCCTGCAAGGGT	0.562																																																	0													100.0	90.0	94.0					6																	31912622		1511	2709	4220	SO:0001583	missense	0				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.2021C>A	6.37:g.31912622C>A	ENSP00000299367:p.Pro674His		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P521H	ENST00000299367.5	37	c.1562	CCDS4728.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.53|19.53	3.844051|3.844051	0.71488|0.71488	.|.	.|.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310|ENST00000383177	T;T;T;T;T;T;T;T|T	0.30182|0.26223	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54|1.75	5.39|5.39	4.52|4.52	0.55395|0.55395	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|0.000000	0.38959|0.38959	N|N	0.001501|0.001501	T|T	0.17619|0.17619	0.0423|0.0423	M|M	0.73962|0.73962	2.25|2.25	0.30244|0.30244	N|N	0.794696|0.794696	D;D;D;D;D;D;D;D;D|.	0.89917|.	0.998;1.0;1.0;1.0;0.997;1.0;0.999;0.959;1.0|.	D;D;D;D;D;D;D;D;D|.	0.85130|.	0.963;0.992;0.986;0.994;0.969;0.969;0.982;0.918;0.997|.	T|T	0.17531|0.17531	-1.0366|-1.0366	10|8	0.66056|0.14252	D|T	0.02|0.57	-7.5009|-7.5009	9.9254|9.9254	0.41489|0.41489	0.0:0.9061:0.0:0.0939|0.0:0.9061:0.0:0.0939	.|.	521;645;460;428;542;359;542;674;461|.	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0|.	.;.;.;.;.;.;.;CO2_HUMAN;.|.	H|T	428;461;460;674;359;542;521;521;445|448	ENSP00000418923:P428H;ENSP00000417482:P461H;ENSP00000392322:P460H;ENSP00000299367:P674H;ENSP00000395683:P542H;ENSP00000451848:P521H;ENSP00000410815:P521H;ENSP00000418996:P445H|ENSP00000372664:P448T	ENSP00000299367:P674H|ENSP00000372664:P448T	P|P	+|+	2|1	0|0	CFB;C2;XXbac-BPG116M5.17|C2	32020601|32020601	0.649000|0.649000	0.27322|0.27322	0.937000|0.937000	0.37676|0.37676	0.966000|0.966000	0.64601|0.64601	3.985000|3.985000	0.56930|0.56930	1.294000|1.294000	0.44707|0.44707	0.563000|0.563000	0.77884|0.77884	CCC|CCT	CFB	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000243649		0.562	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFB	HGNC	protein_coding	OTTHUMT00000076379.9	-	0.00	61	0	C			31912622	+1	tier1	-	no_errors	ENST00000556679	ensembl	human	known	74_37	missense	25.26	71	24	SNP	0.979	A
CFH	3075	genome.wustl.edu	37	1	196706673	196706673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:196706673G>T	ENST00000367429.4	+	17	2905	c.2665G>T	c.(2665-2667)Gaa>Taa	p.E889*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	889	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTCTTCACAAGAAAGTTATGC	0.358																																																	0													76.0	72.0	74.0					1																	196706673		2203	4300	6503	SO:0001587	stop_gained	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2665G>T	1.37:g.196706673G>T	ENSP00000356399:p.Glu889*		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E889*	ENST00000367429.4	37	c.2665	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	39	7.652392	0.98412	.	.	ENSG00000000971	ENST00000367429	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999969	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	8.5815	0.33632	0.109:0.0:0.891:0.0	.	.	.	.	X	889	.	ENSP00000356399:E889X	E	+	1	0	CFH	194973296	0.028000	0.19301	0.182000	0.23118	0.006000	0.05464	0.495000	0.22483	2.058000	0.61347	0.650000	0.86243	GAA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.358	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	-	0.00	40	0	G	NM_000186		196706673	+1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	0.706	T
CHRM4	1132	genome.wustl.edu	37	11	46407375	46407375	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:46407375G>A	ENST00000433765.2	-	1	732	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	245					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGGCTCTTGAGGAAGGCCAGC	0.672																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)												0													18.0	20.0	19.0					11																	46407375		1949	4139	6088	SO:0001583	missense	0			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.733C>T	11.37:g.46407375G>A	ENSP00000409378:p.Leu245Phe		B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt	p.L245F	ENST00000433765.2	37	c.733	CCDS44581.1	11	.	.	.	.	.	.	.	.	.	.	G	3.479	-0.106388	0.06924	.	.	ENSG00000180720	ENST00000433765	T	0.60424	0.19	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.41581	0.1165	L	0.28458	0.855	0.35258	D	0.779308	B	0.10296	0.003	B	0.15052	0.012	T	0.47898	-0.9081	9	0.37606	T	0.19	0.001	5.9801	0.19403	0.1389:0.0:0.69:0.1711	.	245	P08173	ACM4_HUMAN	F	245	ENSP00000409378:L245F	ENSP00000409378:L245F	L	-	1	0	CHRM4	46363951	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	1.800000	0.38833	2.346000	0.79739	0.462000	0.41574	CTC	CHRM4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180720		0.672	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM4	HGNC	protein_coding	OTTHUMT00000334985.1	-	0.00	76	0	G	NM_000741		46407375	-1	tier1	-	no_errors	ENST00000433765	ensembl	human	known	74_37	missense	10.59	76	9	SNP	1.000	A
CNTNAP2	26047	genome.wustl.edu	37	7	147844591	147844591	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:147844591G>C	ENST00000361727.3	+	17	3079	c.2563G>C	c.(2563-2565)Gaa>Caa	p.E855Q	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	855	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCTGCCACAGAAGTGTCCTT	0.473										HNSCC(39;0.1)																																							0													125.0	126.0	126.0					7																	147844591		2203	4300	6503	SO:0001583	missense	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.2563G>C	7.37:g.147844591G>C	ENSP00000354778:p.Glu855Gln		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E855Q	ENST00000361727.3	37	c.2563	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134577	0.56828	.	.	ENSG00000174469	ENST00000361727	D	0.87966	-2.32	5.34	5.34	0.76211	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.280121	0.35615	N	0.003097	D	0.82724	0.5099	L	0.31157	0.91	0.80722	D	1	B	0.21452	0.056	B	0.32928	0.155	T	0.76919	-0.2781	10	0.17832	T	0.49	.	17.6488	0.88157	0.0:0.0:1.0:0.0	.	855	Q9UHC6	CNTP2_HUMAN	Q	855	ENSP00000354778:E855Q	ENSP00000354778:E855Q	E	+	1	0	CNTNAP2	147475524	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.902000	0.87389	2.507000	0.84556	0.561000	0.74099	GAA	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000174469		0.473	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	-	0.00	44	0	G			147844591	+1	tier1	-	no_errors	ENST00000361727	ensembl	human	known	74_37	missense	12.12	58	8	SNP	0.993	C
CNTNAP3	79937	genome.wustl.edu	37	9	39103809	39103809	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:39103809G>C	ENST00000297668.6	-	16	2541	c.2468C>G	c.(2467-2469)aCc>aGc	p.T823S	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.T822S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.T735S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	823	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGAAACTGTGGTCTTAAAAAA	0.483																																																	0													29.0	33.0	32.0					9																	39103809		2203	4298	6501	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2468C>G	9.37:g.39103809G>C	ENSP00000297668:p.Thr823Ser		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T823S	ENST00000297668.6	37	c.2468	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628298	0.67015	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	D;D;D	0.88975	-1.91;-2.45;-1.91	3.28	3.28	0.37604	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.93331	0.7874	M	0.78344	2.41	0.80722	D	1	D;D;D	0.76494	0.999;0.975;0.995	D;D;D	0.67382	0.919;0.934;0.951	D	0.94070	0.7334	9	0.72032	D	0.01	.	13.6746	0.62447	0.0:0.0:1.0:0.0	.	823;822;823	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	S	823;822;735	ENSP00000297668:T823S;ENSP00000366884:T822S;ENSP00000350863:T735S	ENSP00000297668:T823S	T	-	2	0	CNTNAP3	39093809	1.000000	0.71417	0.903000	0.35520	0.748000	0.42578	8.488000	0.90458	1.831000	0.53308	0.306000	0.20318	ACC	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.483	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	-	0.00	83	0	G	NM_033655		39103809	-1	tier1	-	no_errors	ENST00000297668	ensembl	human	known	74_37	missense	9.28	88	9	SNP	0.998	C
COG7	91949	genome.wustl.edu	37	16	23428334	23428334	+	Missense_Mutation	SNP	G	G	T	rs375206757		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr16:23428334G>T	ENST00000307149.5	-	9	1431	c.1246C>A	c.(1246-1248)Ctg>Atg	p.L416M		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	416					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.L416L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAGGTCCCCAGGCCATTGGTG	0.582																																																	1	Substitution - coding silent(1)	breast(1)											89.0	69.0	76.0					16																	23428334		2197	4300	6497	SO:0001583	missense	0			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1246C>A	16.37:g.23428334G>T	ENSP00000305442:p.Leu416Met		Q6UWU7	Missense_Mutation	SNP	pfam_COG7	p.L416M	ENST00000307149.5	37	c.1246	CCDS10610.1	16	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073758	0.76415	.	.	ENSG00000168434	ENST00000307149	T	0.49139	0.79	5.59	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.63843	1.955	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	T	0.58381	-0.7646	10	0.34782	T	0.22	-7.155	11.3005	0.49302	0.1468:0.0:0.8532:0.0	.	416	P83436	COG7_HUMAN	M	416	ENSP00000305442:L416M	ENSP00000305442:L416M	L	-	1	2	COG7	23335835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.596000	0.61055	0.742000	0.32697	0.655000	0.94253	CTG	COG7	-	pfam_COG7	ENSG00000168434		0.582	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG7	HGNC	protein_coding	OTTHUMT00000211625.1		0.00	50	0	G			23428334	-1			no_errors	ENST00000307149	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
COL15A1	1306	genome.wustl.edu	37	9	101784427	101784427	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:101784427C>T	ENST00000375001.3	+	13	2179	c.1756C>T	c.(1756-1758)Ccc>Tcc	p.P586S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	586	Nonhelical region 2 (NC2).				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)				GCCTGTTGGACCCACGGTGAG	0.562																																																	0													162.0	140.0	147.0					9																	101784427		2203	4300	6503	SO:0001583	missense	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.1756C>T	9.37:g.101784427C>T	ENSP00000364140:p.Pro586Ser		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.P586S	ENST00000375001.3	37	c.1756	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	C	7.073	0.568714	0.13560	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89746	-2.56	3.34	1.2	0.21068	.	0.287775	0.33938	N	0.004414	T	0.79240	0.4412	L	0.54323	1.7	0.24468	N	0.994409	B	0.34103	0.437	B	0.27500	0.08	T	0.63377	-0.6651	10	0.10111	T	0.7	-0.5306	5.3704	0.16136	0.2346:0.5371:0.2284:0.0	.	586	P39059	COFA1_HUMAN	S	586;556	ENSP00000364140:P586S	ENSP00000364140:P586S	P	+	1	0	COL15A1	100824248	0.996000	0.38824	0.849000	0.33467	0.069000	0.16628	0.637000	0.24659	0.701000	0.31803	0.467000	0.42956	CCC	COL15A1	-	NULL	ENSG00000204291		0.562	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	-	0.00	71	0	C	NM_001855		101784427	+1	tier1	-	no_errors	ENST00000375001	ensembl	human	known	74_37	missense	25.00	51	17	SNP	0.779	T
COL16A1	1307	genome.wustl.edu	37	1	32165447	32165447	+	Missense_Mutation	SNP	C	C	T	rs573984488		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:32165447C>T	ENST00000373672.3	-	4	749	c.233G>A	c.(232-234)cGc>cAc	p.R78H	COL16A1_ENST00000271069.6_Missense_Mutation_p.R78H|COL16A1_ENST00000373668.3_Missense_Mutation_p.R78H	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	78	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CGCCCCCAGGCGCAGGATGAG	0.592																																					Colon(143;498 1786 21362 25193 36625)												0													67.0	69.0	68.0					1																	32165447		1938	4139	6077	SO:0001583	missense	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.233G>A	1.37:g.32165447C>T	ENSP00000362776:p.Arg78His		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R78H	ENST00000373672.3	37	c.233	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.960572	0.74016	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.41065	1.01;1.01;1.01	4.63	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000011	T	0.64450	0.2599	M	0.72353	2.195	0.42246	D	0.991957	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.987	T	0.69921	-0.5014	10	0.87932	D	0	.	16.67	0.85263	0.0:1.0:0.0:0.0	.	78;78	A6NCT7;Q07092	.;COGA1_HUMAN	H	78	ENSP00000362776:R78H;ENSP00000271069:R78H;ENSP00000362772:R78H	ENSP00000271069:R78H	R	-	2	0	COL16A1	31938034	0.998000	0.40836	0.999000	0.59377	0.821000	0.46438	4.426000	0.59882	2.302000	0.77476	0.556000	0.70494	CGC	COL16A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000084636		0.592	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	-	0.00	57	0	C	NM_001856		32165447	-1	tier1	-	no_errors	ENST00000271069	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	T
COL4A2	1284	genome.wustl.edu	37	13	111145564	111145564	+	Missense_Mutation	SNP	C	C	T	rs199782906	byFrequency	TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr13:111145564C>T	ENST00000360467.5	+	39	3875	c.3569C>T	c.(3568-3570)cCg>cTg	p.P1190L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1190	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCAGGTTTTCCGGGACTCCGT	0.577													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15829	0.0		0.0	False		,,,				2504	0.0																0								C	LEU/PRO	3,3777		0,3,1887	58.0	66.0	64.0		3569	5.3	0.1	13	dbSNP_134	64	0,8218		0,0,4109	no	missense	COL4A2	NM_001846.2	98	0,3,5996	TT,TC,CC		0.0,0.0794,0.025	probably-damaging	1190/1713	111145564	3,11995	1890	4109	5999	SO:0001583	missense	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3569C>T	13.37:g.111145564C>T	ENSP00000353654:p.Pro1190Leu		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1190L	ENST00000360467.5	37	c.3569	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735726	0.69189	7.94E-4	0.0	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96685	-4.09	5.28	5.28	0.74379	.	0.113583	0.39759	N	0.001271	D	0.97911	0.9313	M	0.82056	2.57	0.53005	D	0.999964	D	0.76494	0.999	D	0.72338	0.977	D	0.98147	1.0439	10	0.51188	T	0.08	.	15.8396	0.78835	0.0:1.0:0.0:0.0	.	1190	P08572	CO4A2_HUMAN	L	1190	ENSP00000353654:P1190L	ENSP00000257309:P1190L	P	+	2	0	COL4A2	109943565	0.828000	0.29307	0.068000	0.19968	0.067000	0.16453	4.485000	0.60279	2.454000	0.82982	0.561000	0.74099	CCG	COL4A2	-	pfam_Collagen	ENSG00000134871		0.577	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2		0.00	46	0	C	NM_001846		111145564	+1			no_errors	ENST00000360467	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.266	T
COL7A1	1294	genome.wustl.edu	37	3	48606262	48606262	+	Silent	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:48606262C>T	ENST00000328333.8	-	103	7820	c.7713G>A	c.(7711-7713)aaG>aaA	p.K2571K	COL7A1_ENST00000454817.1_Silent_p.K2539K	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2571	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCTGAGCCCTTGTCACCAG	0.647																																																	0													27.0	25.0	25.0					3																	48606262		2198	4294	6492	SO:0001819	synonymous_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.7713G>A	3.37:g.48606262C>T			Q14054|Q16507	Silent	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.K2571	ENST00000328333.8	37	c.7713	CCDS2773.1	3																																																																																			COL7A1	-	pfam_Collagen	ENSG00000114270		0.647	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	-	0.00	124	0	C	NM_000094		48606262	-1	tier1	-	no_errors	ENST00000328333	ensembl	human	known	74_37	silent	17.54	94	20	SNP	0.997	T
CTNNAL1	8727	genome.wustl.edu	37	9	111705299	111705299	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:111705299C>G	ENST00000325551.4	-	18	2167	c.2081G>C	c.(2080-2082)aGa>aCa	p.R694T	CTNNAL1_ENST00000374594.1_Missense_Mutation_p.R95T|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R610T|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.R694T|FAM206A_ENST00000374624.3_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	694					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CATCATGGATCTTGTCTTCGT	0.308																																																	0													70.0	68.0	69.0					9																	111705299		2202	4300	6502	SO:0001583	missense	0			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.2081G>C	9.37:g.111705299C>G	ENSP00000320434:p.Arg694Thr		B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.R694T	ENST00000325551.4	37	c.2081	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622114	0.66787	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.85	4.94	0.65067	.	0.174844	0.64402	D	0.000011	T	0.53981	0.1830	L	0.54323	1.7	0.20307	N	0.999914	P;D;P;P;P	0.56521	0.801;0.976;0.801;0.734;0.801	P;P;P;P;P	0.51701	0.516;0.677;0.516;0.535;0.516	T	0.55159	-0.8184	10	0.87932	D	0	-20.0645	6.8882	0.24214	0.1749:0.7395:0.0:0.0856	.	694;610;694;694;694	B2RBI4;Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;.;CTNL1_HUMAN	T	694;694;610;95	ENSP00000363723:R694T;ENSP00000320434:R694T;ENSP00000323351:R610T;ENSP00000363722:R95T	ENSP00000320434:R694T	R	-	2	0	CTNNAL1	110745120	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	2.021000	0.41020	2.767000	0.95098	0.655000	0.94253	AGA	CTNNAL1	-	superfamily_Vinculin/catenin	ENSG00000119326		0.308	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	-	0.00	36	0	C	NM_003798		111705299	-1	tier1	-	no_errors	ENST00000325551	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	G
CUBN	8029	genome.wustl.edu	37	10	16945979	16945979	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:16945979T>C	ENST00000377833.4	-	51	8113	c.8048A>G	c.(8047-8049)aAg>aGg	p.K2683R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2683	CUB 19. {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)	AAAGGAATACTTTGCATGGAA	0.303																																																	0													44.0	41.0	42.0					10																	16945979		2203	4299	6502	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.8048A>G	10.37:g.16945979T>C	ENSP00000367064:p.Lys2683Arg		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.K2683R	ENST00000377833.4	37	c.8048	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	T	0.474	-0.883048	0.02530	.	.	ENSG00000107611	ENST00000377833	T	0.17691	2.26	5.59	3.27	0.37495	CUB (5);	1.529560	0.04157	N	0.322401	T	0.09202	0.0227	N	0.03999	-0.3	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34775	-0.9815	10	0.14252	T	0.57	.	8.755	0.34639	0.0:0.2844:0.0:0.7156	.	2683	O60494	CUBN_HUMAN	R	2683	ENSP00000367064:K2683R	ENSP00000367064:K2683R	K	-	2	0	CUBN	16985985	0.000000	0.05858	0.034000	0.17996	0.265000	0.26407	0.202000	0.17295	0.499000	0.27970	0.482000	0.46254	AAG	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.303	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0.00	28	0	T	NM_001081		16945979	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.004	C
DCX	1641	genome.wustl.edu	37	X	110576330	110576330	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chrX:110576330C>A	ENST00000338081.3	-	4	1171	c.1000G>T	c.(1000-1002)Ggt>Tgt	p.G334C	DCX_ENST00000371993.2_Missense_Mutation_p.G253C|DCX_ENST00000356915.2_Missense_Mutation_p.G253C|DCX_ENST00000488120.1_Missense_Mutation_p.G253C|DCX_ENST00000356220.3_Missense_Mutation_p.G253C|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	334	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.		G -> D (in SBHX).		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTTTCAGGACCACAGGCAATA	0.393																																																	0													157.0	110.0	126.0					X																	110576330		2203	4300	6503	SO:0001583	missense	0			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.1000G>T	X.37:g.110576330C>A	ENSP00000337697:p.Gly334Cys		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	p.G334C	ENST00000338081.3	37	c.1000	CCDS14556.1	X	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833987	0.91036	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47	5.44	5.44	0.79542	Doublecortin domain (5);	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98671	1.0688	10	0.72032	D	0.01	.	18.3359	0.90287	0.0:1.0:0.0:0.0	.	322;334	B4DM53;O43602	.;DCX_HUMAN	C	253;253;334;253;253	ENSP00000349385:G253C;ENSP00000361061:G253C;ENSP00000337697:G334C;ENSP00000348553:G253C;ENSP00000419861:G253C	ENSP00000337697:G334C	G	-	1	0	DCX	110462986	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.748000	0.85085	2.270000	0.75569	0.436000	0.28706	GGT	DCX	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	ENSG00000077279		0.393	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	HGNC	protein_coding	OTTHUMT00000357058.1	-	0.00	22	0	C	NM_178153		110576330	-1	tier1	-	no_errors	ENST00000338081	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	A
DNAJC7	7266	genome.wustl.edu	37	17	40142298	40142298	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:40142298C>T	ENST00000457167.4	-	6	819	c.583G>A	c.(583-585)Gca>Aca	p.A195T	DNAJC7_ENST00000426588.3_Missense_Mutation_p.A139T|DNAJC7_ENST00000316603.7_Missense_Mutation_p.A139T	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	195					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ACAGACTGTGCTTCTGGATAA	0.502																																					Colon(63;618 1117 8600 10857 19751)												0													59.0	56.0	57.0					17																	40142298		1984	4158	6142	SO:0001583	missense	0			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.583G>A	17.37:g.40142298C>T	ENSP00000406463:p.Ala195Thr		Q7Z784	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.A195T	ENST00000457167.4	37	c.583	CCDS45677.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.351397	0.95830	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	D;D;D	0.94046	-2.74;-3.34;-3.34	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	M	0.85945	2.785	0.80722	D	1	D;D;D	0.71674	0.988;0.997;0.998	D;D;D	0.77004	0.983;0.973;0.989	D	0.97481	1.0047	10	0.87932	D	0	-2.1389	19.4909	0.95049	0.0:1.0:0.0:0.0	.	184;139;195	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	T	195;139;139	ENSP00000406463:A195T;ENSP00000394327:A139T;ENSP00000313311:A139T	ENSP00000313311:A139T	A	-	1	0	DNAJC7	37395824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.607000	0.88179	0.563000	0.77884	GCA	DNAJC7	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000168259		0.502	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC7	HGNC	protein_coding	OTTHUMT00000453366.2	-	0.00	62	0	C			40142298	-1	tier1	-	no_errors	ENST00000457167	ensembl	human	known	74_37	missense	12.61	104	15	SNP	1.000	T
DRD5	1816	genome.wustl.edu	37	4	9784946	9784946	+	Silent	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr4:9784946G>A	ENST00000304374.2	+	1	1689	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	431					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACGAGGAGGAGGGTCCTTTCG	0.567																																																	0													83.0	73.0	77.0					4																	9784946		2203	4300	6503	SO:0001819	synonymous_variant	0			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1293G>A	4.37:g.9784946G>A			B2R9S3|Q8NEQ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt	p.E431	ENST00000304374.2	37	c.1293	CCDS3405.1	4																																																																																			DRD5	-	NULL	ENSG00000169676		0.567	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1	-	0.00	54	0	G			9784946	+1	tier1	-	no_errors	ENST00000304374	ensembl	human	known	74_37	silent	15.00	34	6	SNP	0.063	A
ELFN2	114794	genome.wustl.edu	37	22	37769432	37769432	+	Silent	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr22:37769432G>A	ENST00000402918.2	-	3	2928	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	715					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCGTAGTACAGGGCGGGAAAG	0.711																																																	0													28.0	28.0	28.0					22																	37769432		2200	4298	6498	SO:0001819	synonymous_variant	0			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2143C>T	22.37:g.37769432G>A			Q96PY3	Silent	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor	p.L715	ENST00000402918.2	37	c.2143	CCDS33642.1	22																																																																																			ELFN2	-	NULL	ENSG00000166897		0.711	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	-	0.00	57	0	G	NM_052906		37769432	-1	tier1	-	no_errors	ENST00000402918	ensembl	human	known	74_37	silent	17.65	27	6	SNP	0.998	A
ELL2	22936	genome.wustl.edu	37	5	95249513	95249513	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:95249513C>T	ENST00000237853.4	-	4	792	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	148					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTTTGTGCTTCGGTTGCGGGA	0.418																																																	0													191.0	191.0	191.0					5																	95249513		2203	4300	6503	SO:0001583	missense	0			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.443G>A	5.37:g.95249513C>T	ENSP00000237853:p.Arg148Gln		B4DNK7	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.R148Q	ENST00000237853.4	37	c.443	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.474171	0.96291	.	.	ENSG00000118985	ENST00000237853	T	0.31247	1.5	5.49	5.49	0.81192	.	0.182978	0.49916	D	0.000137	T	0.56963	0.2021	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.58272	-0.7665	10	0.72032	D	0.01	-2.0343	19.3344	0.94309	0.0:1.0:0.0:0.0	.	148	O00472	ELL2_HUMAN	Q	148	ENSP00000237853:R148Q	ENSP00000237853:R148Q	R	-	2	0	ELL2	95275269	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.030000	0.57260	2.740000	0.93945	0.563000	0.77884	CGA	ELL2	-	pfam_RNA_pol_II_elong_fac_ELL	ENSG00000118985		0.418	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	-	0.00	93	0	C	NM_012081		95249513	-1	tier1	-	no_errors	ENST00000237853	ensembl	human	known	74_37	missense	16.16	83	16	SNP	1.000	T
ELTD1	64123	genome.wustl.edu	37	1	79411960	79411960	+	Splice_Site	SNP	T	T	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:79411960T>G	ENST00000370742.3	-	3	387	c.324A>C	c.(322-324)atA>atC	p.I108I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	108	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CGAACTTACCTATACAGACGG	0.368																																																	0													86.0	81.0	83.0					1																	79411960		1854	4104	5958	SO:0001630	splice_region_variant	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.325+1A>C	1.37:g.79411960T>G			B1AR71|Q5KU34	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.I108	ENST00000370742.3	37	c.324	CCDS41352.1	1																																																																																			ELTD1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000162618		0.368	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	-	0.00	31	0	T	NM_022159	Silent	79411960	-1	tier1	-	no_errors	ENST00000370742	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.994	G
AC011718.2	0	genome.wustl.edu	37	22	20639062	20639062	+	lincRNA	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr22:20639062G>A	ENST00000577456.1	-	0	2498																											CAGCGTCCTCGTTAGCATGCC	0.458																																																	0																																												0																															22.37:g.20639062G>A				RNA	SNP	-	NULL	ENST00000577456.1	37	NULL		22																																																																																			AC011718.2	-	-	ENSG00000223579		0.458	AC011718.2-004	KNOWN	basic	lincRNA	ENSG00000223579	Clone_based_vega_gene	lincRNA	OTTHUMT00000444810.1	-	0.00	43	0	G			20639062	-1	tier1	-	no_errors	ENST00000577456	ensembl	human	known	74_37	rna	38.24	21	13	SNP	0.970	A
EMID1	129080	genome.wustl.edu	37	22	29651307	29651307	+	Silent	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr22:29651307C>A	ENST00000404820.3	+	14	1294	c.1167C>A	c.(1165-1167)ctC>ctA	p.L389L	EMID1_ENST00000404755.3_Intron|EMID1_ENST00000334018.6_Intron			Q96A84	EMID1_HUMAN	EMI domain containing 1	384						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGCTGGAGCTCCTGGCCAGAC	0.642																																																	0													12.0	16.0	14.0					22																	29651307		692	1585	2277	SO:0001819	synonymous_variant	0			AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.1167C>A	22.37:g.29651307C>A			B0QYK6|Q6ICG1|Q86SS7	Silent	SNP	pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain	p.L389	ENST00000404820.3	37	c.1167		22																																																																																			EMID1	-	NULL	ENSG00000186998		0.642	EMID1-002	NOVEL	basic|appris_principal	protein_coding	EMID1	HGNC	protein_coding	OTTHUMT00000321075.1	-	0.00	74	0	C	NM_133455		29651307	+1	tier1	-	no_errors	ENST00000404820	ensembl	human	novel	74_37	silent	6.56	57	4	SNP	1.000	A
RP11-289H16.1	0	genome.wustl.edu	37	1	144090788	144090788	+	lincRNA	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:144090788C>A	ENST00000441760.1	-	0	600				SRGAP2B_ENST00000467933.1_RNA																							ATAGAACCAGCATTGTTAACT	0.403																																																	0																																												0																															1.37:g.144090788C>A				RNA	SNP	-	NULL	ENST00000441760.1	37	NULL		1																																																																																			RP11-289H16.1	-	-	ENSG00000224363		0.403	RP11-289H16.1-001	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000224363	Clone_based_vega_gene	lincRNA	OTTHUMT00000099257.1	-	0.00	31	0	C			144090788	-1	tier1	-	no_errors	ENST00000441760	ensembl	human	known	74_37	rna	12.50	28	4	SNP	0.850	A
PTPRB	5787	genome.wustl.edu	37	12	70932804	70932804	+	Intron	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:70932804C>T	ENST00000261266.5	-	25	5154				PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000334414.6_Intron|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550857.1_Intron|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(3)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCTGTTAGGTCAAATATGAGT	0.358																																																	3	Unknown(3)	lung(3)											46.0	45.0	45.0					12																	70932804		1850	4091	5941	SO:0001627	intron_variant	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5125-10G>A	12.37:g.70932804C>T			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	RNA	SNP	-	NULL	ENST00000261266.5	37	NULL	CCDS44944.1	12																																																																																			RP11-588H23.3	-	-	ENSG00000258168		0.358	PTPRB-007	KNOWN	basic|CCDS	protein_coding	ENSG00000258168	Clone_based_vega_gene	protein_coding	OTTHUMT00000404439.1	-	0.00	38	0	C			70932804	+1	tier1	-	no_errors	ENST00000548687	ensembl	human	known	74_37	rna	13.79	25	4	SNP	0.001	T
EPHB1	2047	genome.wustl.edu	37	3	134881021	134881021	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:134881021C>T	ENST00000398015.3	+	7	1954	c.1584C>T	c.(1582-1584)gaC>gaT	p.D528D	EPHB1_ENST00000493838.1_Splice_Site_p.D89D	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	528	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						CTCTGACTGACGGTAAGGGTC	0.562																																																	0													79.0	84.0	82.0					3																	134881021		2145	4267	6412	SO:0001630	splice_region_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.1585+1C>T	3.37:g.134881021C>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.D528	ENST00000398015.3	37	c.1584	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3	ENSG00000154928		0.562	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0.00	40	0	C	NM_004441	Silent	134881021	+1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	18.60	35	8	SNP	0.674	T
EPHX2	2053	genome.wustl.edu	37	8	27398991	27398991	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:27398991G>A	ENST00000521400.1	+	16	1811	c.1381G>A	c.(1381-1383)Ggt>Agt	p.G461S	EPHX2_ENST00000517536.1_Splice_Site_p.G278S|EPHX2_ENST00000521780.1_Splice_Site_p.G395S|EPHX2_ENST00000518379.1_Splice_Site_p.G429S|EPHX2_ENST00000380476.3_Splice_Site_p.G408S	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	461	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		TCTCCCCAGAGGTCCTCTAAA	0.527																																																	0													109.0	96.0	101.0					8																	27398991		2203	4300	6503	SO:0001630	splice_region_variant	0			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1380-1G>A	8.37:g.27398991G>A			B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_HAD-SF_hydro_IA,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA	p.G461S	ENST00000521400.1	37	c.1381	CCDS6060.1	8	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378264	0.82682	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.92	5.92	0.95590	Alpha/beta hydrolase fold-1 (1);	0.101413	0.64402	D	0.000003	T	0.78142	0.4237	M	0.84585	2.705	0.58432	D	0.999997	D;D	0.76494	0.991;0.999	D;D	0.72982	0.919;0.979	T	0.79150	-0.1922	10	0.49607	T	0.09	0.857	15.8242	0.78686	0.0:0.0:1.0:0.0	.	429;461	E5RFU2;P34913	.;HYES_HUMAN	S	461;278;395;408;408;429	ENSP00000430269:G461S;ENSP00000428875:G278S;ENSP00000430302:G395S;ENSP00000369843:G408S;ENSP00000427956:G429S	ENSP00000369843:G408S	G	+	1	0	EPHX2	27454908	1.000000	0.71417	0.971000	0.41717	0.793000	0.44817	3.566000	0.53805	2.798000	0.96311	0.557000	0.71058	GGT	EPHX2	-	pfam_AB_hydrolase_1	ENSG00000120915		0.527	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX2	HGNC	protein_coding	OTTHUMT00000219954.4	-	0.00	67	0	G		Missense_Mutation	27398991	+1	tier1	-	no_errors	ENST00000521400	ensembl	human	known	74_37	missense	7.32	76	6	SNP	0.998	A
FAT4	79633	genome.wustl.edu	37	4	126408710	126408710	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr4:126408710A>G	ENST00000394329.3	+	16	13040	c.13027A>G	c.(13027-13029)Ata>Gta	p.I4343V	FAT4_ENST00000335110.5_Missense_Mutation_p.I2584V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4343	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I4343V(1)|p.I4286V(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTGCTTACTATATCACTTGG	0.403																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(2)											72.0	70.0	70.0					4																	126408710		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13027A>G	4.37:g.126408710A>G	ENSP00000377862:p.Ile4343Val		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I4343V	ENST00000394329.3	37	c.13027	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	8.396	0.840846	0.16891	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.77489	-1.1;-1.1	5.41	2.84	0.33178	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.181173	0.25037	U	0.033637	T	0.57858	0.2082	N	0.17345	0.48	0.26931	N	0.96647	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.002	T	0.42531	-0.9446	10	0.25106	T	0.35	.	7.2035	0.25895	0.7772:0.1463:0.0765:0.0	.	2584;4343;4343	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	4343;2584	ENSP00000377862:I4343V;ENSP00000335169:I2584V	ENSP00000335169:I2584V	I	+	1	0	FAT4	126628160	0.759000	0.28416	0.998000	0.56505	0.458000	0.32498	1.369000	0.34227	0.898000	0.36418	-0.256000	0.11100	ATA	FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196159		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0.00	20	0	A	NM_024582		126408710	+1			no_errors	ENST00000394329	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.837	G
FBN1	2200	genome.wustl.edu	37	15	48779545	48779545	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr15:48779545C>A	ENST00000316623.5	-	28	3882	c.3427G>T	c.(3427-3429)Ggc>Tgc	p.G1143C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1143	EGF-like 17; 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)		AGCTGATGGCCAGGCGGGCAT	0.483																																																	0													117.0	115.0	116.0					15																	48779545		2198	4296	6494	SO:0001583	missense	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.3427G>T	15.37:g.48779545C>A	ENSP00000325527:p.Gly1143Cys		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.G1143C	ENST00000316623.5	37	c.3427	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863445	0.91511	.	.	ENSG00000166147	ENST00000316623	D	0.92911	-3.13	5.6	5.6	0.85130	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99239	1.0884	10	0.87932	D	0	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	1143	P35555	FBN1_HUMAN	C	1143	ENSP00000325527:G1143C	ENSP00000325527:G1143C	G	-	1	0	FBN1	46566837	1.000000	0.71417	0.657000	0.29651	0.876000	0.50452	7.275000	0.78548	2.639000	0.89480	0.655000	0.94253	GGC	FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.483	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0.00	51	0	C			48779545	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.998	A
FIGLA	344018	genome.wustl.edu	37	2	71014835	71014835	+	Silent	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:71014835C>T	ENST00000332372.6	-	2	334	c.330G>A	c.(328-330)gcG>gcA	p.A110A		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	110	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			endometrium(2)|lung(3)	5						TATATTCAGTCGCACCTTTAA	0.398																																																	0													67.0	60.0	62.0					2																	71014835		1830	4090	5920	SO:0001819	synonymous_variant	0			BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"""Basic helix-loop-helix proteins"""	24669	protein-coding gene	gene with protein product	"""factor in the germline alpha"""	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.330G>A	2.37:g.71014835C>T				Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A110	ENST00000332372.6	37	c.330	CCDS46320.1	2																																																																																			FIGLA	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000183733		0.398	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGLA	HGNC	protein_coding	OTTHUMT00000331214.1	-	0.00	49	0	C	NM_001004311		71014835	-1	tier1	-	no_errors	ENST00000332372	ensembl	human	known	74_37	silent	11.67	53	7	SNP	0.646	T
FRAS1	80144	genome.wustl.edu	37	4	79345576	79345576	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr4:79345576T>C	ENST00000325942.6	+	35	5151		c.e35+2		FRAS1_ENST00000264895.6_Splice_Site	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1						cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTTCACAGGTAAAGATTCAT	0.308																																																	0													77.0	63.0	67.0					4																	79345576		1762	4016	5778	SO:0001630	splice_region_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4711+2T>C	4.37:g.79345576T>C			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	-	e35+2	ENST00000325942.6	37	c.4711+2	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	T	19.39	3.819160	0.71028	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000510944	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRAS1	79564600	1.000000	0.71417	0.947000	0.38551	0.723000	0.41478	6.977000	0.76141	2.326000	0.78906	0.533000	0.62120	.	FRAS1	-	-	ENSG00000138759		0.308	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	-	0.00	34	0	T		Intron	79345576	+1	tier1	-	no_errors	ENST00000264895	ensembl	human	known	74_37	splice_site	25.00	27	9	SNP	0.998	C
FZD4	8322	genome.wustl.edu	37	11	86662616	86662616	+	Silent	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:86662616G>A	ENST00000531380.1	-	2	1487	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	394					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGTAAAGAGGGGAGCCACCA	0.453																																																	0													114.0	108.0	110.0					11																	86662616		2201	4299	6500	SO:0001819	synonymous_variant	0			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1182C>T	11.37:g.86662616G>A			A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.P394	ENST00000531380.1	37	c.1182	CCDS8279.1	11																																																																																			FZD4	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000174804		0.453	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	FZD4	HGNC	protein_coding	OTTHUMT00000393818.2	-	0.00	42	0	G	NM_012193		86662616	-1	tier1	-	no_errors	ENST00000531380	ensembl	human	known	74_37	silent	26.23	45	16	SNP	0.006	A
GLYCTK	132158	genome.wustl.edu	37	3	52326740	52326740	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:52326740G>T	ENST00000436784.2	+	5	1230	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron|MIR135A1_ENST00000385191.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	390					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		AGCTGGAGGAGGCTCTGGAGA	0.662																																																	0													35.0	39.0	37.0					3																	52326740		2203	4300	6503	SO:0001583	missense	0				CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1170G>T	3.37:g.52326740G>T	ENSP00000389175:p.Glu390Asp		Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	pfam_MOFRL	p.E390D	ENST00000436784.2	37	c.1170	CCDS2852.1	3	.	.	.	.	.	.	.	.	.	.	G	5.012	0.187936	0.09547	.	.	ENSG00000168237	ENST00000436784;ENST00000411757	T	0.56275	0.47	5.85	0.504	0.16946	.	0.277274	0.42053	N	0.000774	T	0.38957	0.1060	L	0.56769	1.78	0.45806	D	0.998686	B	0.14805	0.011	B	0.15484	0.013	T	0.10989	-1.0606	9	.	.	.	-11.5145	2.7415	0.05255	0.2693:0.1325:0.4915:0.1067	.	390	Q8IVS8	GLCTK_HUMAN	D	390;324	ENSP00000389175:E390D	.	E	+	3	2	GLYCTK	52301780	0.020000	0.18652	0.963000	0.40424	0.184000	0.23303	-0.100000	0.10990	0.260000	0.21731	-0.345000	0.07892	GAG	GLYCTK	-	NULL	ENSG00000168237		0.662	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYCTK	HGNC	protein_coding	OTTHUMT00000350835.1		0.00	81	0	G	NM_145262		52326740	+1			no_errors	ENST00000436784	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.416	T
GNRH1	2796	genome.wustl.edu	37	8	25279131	25279131	+	Silent	SNP	C	C	T	rs577363506		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:25279131C>T	ENST00000276414.4	-	2	1518	c.195G>A	c.(193-195)acG>acA	p.T65T	GNRH1_ENST00000421054.2_Silent_p.T65T	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	65					cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|ovulation cycle (GO:0042698)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|response to corticosteroid (GO:0031960)|response to ethanol (GO:0045471)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	gonadotropin hormone-releasing hormone activity (GO:0005183)|hormone activity (GO:0005179)			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		GTGGCTGGTGCGTGGTGCATT	0.458																																																	0													90.0	100.0	97.0					8																	25279131		2047	4200	6247	SO:0001819	synonymous_variant	0			X01059	CCDS43725.1	8p21-p11.2	2013-02-26	2004-10-13		ENSG00000147437	ENSG00000147437		"""Endogenous ligands"""	4419	protein-coding gene	gene with protein product		152760	"""gonadotropin-releasing hormone 1 (leutinizing-releasing hormone)"""	GRH, GNRH, LHRH		6090951	Standard	NM_000825		Approved		uc003xem.4	P01148	OTTHUMG00000163852	ENST00000276414.4:c.195G>A	8.37:g.25279131C>T			A0AVP0	Silent	SNP	pfam_GnRH,prints_Gonadoliberin_I_precursor	p.T65	ENST00000276414.4	37	c.195	CCDS43725.1	8																																																																																			GNRH1	-	prints_Gonadoliberin_I_precursor	ENSG00000147437		0.458	GNRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNRH1	HGNC	protein_coding	OTTHUMT00000375982.1	-	0.00	83	0	C	NM_001083111		25279131	-1	tier1	-	no_errors	ENST00000276414	ensembl	human	known	74_37	silent	25.00	69	23	SNP	0.025	T
GRIPAP1	56850	genome.wustl.edu	37	X	48854534	48854534	+	Intron	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chrX:48854534C>T	ENST00000376441.1	-	4	233				GRIPAP1_ENST00000376423.4_Intron|GRIPAP1_ENST00000376425.3_Intron|GRIPAP1_ENST00000376444.3_Intron	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1							blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						AGACATCTCCCAGTCACACTC	0.488																																																	0													229.0	167.0	188.0					X																	48854534		2203	4300	6503	SO:0001627	intron_variant	0			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.198+31G>A	X.37:g.48854534C>T			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	RNA	SNP	-	NULL	ENST00000376441.1	37	NULL	CCDS35248.1	X																																																																																			GRIPAP1	-	-	ENSG00000068400		0.488	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	-	0.00	63	0	C	NM_207672		48854534	-1	tier1	-	no_errors	ENST00000480041	ensembl	human	putative	74_37	rna	9.80	46	5	SNP	0.004	T
GRM5	2915	genome.wustl.edu	37	11	88300675	88300675	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:88300675T>A	ENST00000305447.4	-	7	2325	c.2176A>T	c.(2176-2178)Att>Ttt	p.I726F	GRM5_ENST00000393297.1_Missense_Mutation_p.I726F|GRM5_ENST00000305432.5_Missense_Mutation_p.I726F|GRM5_ENST00000418177.2_Missense_Mutation_p.I726F|GRM5_ENST00000455756.2_Missense_Mutation_p.I726F	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	726					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ACTTCTCGAATGCTTGGGTAG	0.448																																																	0													160.0	135.0	143.0					11																	88300675		2201	4299	6500	SO:0001583	missense	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2176A>T	11.37:g.88300675T>A	ENSP00000306138:p.Ile726Phe		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.I726F	ENST00000305447.4	37	c.2176	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709775	0.68730	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.58	5.58	0.84498	GPCR, family 3, C-terminal (2);	0.088804	0.85682	D	0.000000	D	0.88104	0.6347	N	0.20483	0.58	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.958	D	0.87451	0.2401	9	.	.	.	.	15.7446	0.77929	0.0:0.0:0.0:1.0	.	726;726	P41594-2;P41594	.;GRM5_HUMAN	F	726	ENSP00000402912:I726F;ENSP00000405690:I726F;ENSP00000305905:I726F;ENSP00000306138:I726F;ENSP00000376975:I726F	.	I	-	1	0	GRM5	87940323	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.186000	0.72026	2.133000	0.65898	0.459000	0.35465	ATT	GRM5	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000168959		0.448	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1		0.00	68	0	T	NM_000842		88300675	-1			no_errors	ENST00000305447	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
IGSF3	3321	genome.wustl.edu	37	1	117127484	117127484	+	Silent	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:117127484G>A	ENST00000369486.3	-	9	3396	c.2631C>T	c.(2629-2631)caC>caT	p.H877H	IGSF3_ENST00000369483.1_Silent_p.H897H|IGSF3_ENST00000318837.6_Silent_p.H897H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	877	Ig-like C2-type 7.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCTCTCCATAGTGGAAGGTGG	0.592																																																	0													81.0	78.0	79.0					1																	117127484		2203	4300	6503	SO:0001819	synonymous_variant	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2631C>T	1.37:g.117127484G>A			A6NJZ6|A6NMC7	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.H897	ENST00000369486.3	37	c.2691	CCDS30813.1	1																																																																																			IGSF3	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143061		0.592	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	-	0.00	58	0	G	NM_001542		117127484	-1	tier1	-	no_errors	ENST00000318837	ensembl	human	known	74_37	silent	16.36	46	9	SNP	1.000	A
SLC27A3	11000	genome.wustl.edu	37	1	153746308	153746308	+	5'Flank	SNP	C	C	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:153746308C>G	ENST00000368661.3	+	0	0				INTS3_ENST00000456435.1_3'UTR|INTS3_ENST00000318967.2_3'UTR|INTS3_ENST00000476843.1_3'UTR|SLC27A3_ENST00000271857.2_5'Flank	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACAAGCATTCAGAAAGGAGT	0.537																																																	0																																										SO:0001631	upstream_gene_variant	0			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153746308C>G	Exception_encountered		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	RNA	SNP	-	NULL	ENST00000368661.3	37	NULL	CCDS1053.1	1																																																																																			INTS3	-	-	ENSG00000143624		0.537	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding		-	0.00	45	0	C	NM_024330		153746308	+1	tier1	-	no_errors	ENST00000476843	ensembl	human	known	74_37	rna	9.43	48	5	SNP	0.000	G
KCNMA1	3778	genome.wustl.edu	37	10	78704644	78704644	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:78704644T>G	ENST00000286628.8	-	23	2788	c.2789A>C	c.(2788-2790)cAg>cCg	p.Q930P	KCNMA1_ENST00000404771.3_Missense_Mutation_p.Q930P|RP11-443A13.5_ENST00000608791.1_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000286627.5_Missense_Mutation_p.Q872P|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.Q913P|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.Q872P|KCNMA1_ENST00000354353.5_Missense_Mutation_p.Q933P|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.Q872P|KCNMA1_ENST00000406533.3_Missense_Mutation_p.Q934P	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	930					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AATATTATTCTGATTGGCTGA	0.448																																																	0													171.0	136.0	148.0					10																	78704644		2203	4300	6503	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2789A>C	10.37:g.78704644T>G	ENSP00000286628:p.Gln930Pro		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.Q934P	ENST00000286628.8	37	c.2801		10	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763706	0.31228	.	.	ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	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	5.74	5.74	0.90152	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	N	0.14661	0.345	0.80722	D	1	D;B;B;B;B;B;B;B	0.65815	0.995;0.013;0.003;0.002;0.003;0.002;0.092;0.013	D;B;B;B;B;B;B;B	0.66979	0.948;0.017;0.01;0.005;0.021;0.005;0.039;0.017	T	0.50499	-0.8821	10	0.28530	T	0.3	-10.7772	16.0356	0.80625	0.0:0.0:0.0:1.0	.	901;875;913;930;872;683;933;872	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.;.;.;KCMA1_HUMAN;.;.;.;.	P	872;809;865;904;867;872;872;904;934;933;913;683	ENSP00000361517:Q872P;ENSP00000361485:Q809P;ENSP00000361514:Q865P;ENSP00000396608:Q904P;ENSP00000361520:Q872P;ENSP00000286627:Q872P;ENSP00000385552:Q934P;ENSP00000346321:Q933P;ENSP00000385806:Q913P	ENSP00000286627:Q872P	Q	-	2	0	KCNMA1	78374650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.953000	0.87836	2.187000	0.69744	0.528000	0.53228	CAG	KCNMA1	-	NULL	ENSG00000156113		0.448	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0.00	82	0	T	NM_002247		78704644	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	13.04	60	9	SNP	1.000	G
ITPRIP	85450	genome.wustl.edu	37	10	106074541	106074541	+	Silent	SNP	G	G	A	rs528588716		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:106074541G>A	ENST00000337478.1	-	2	1440	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Silent_p.T423T|ITPRIP_ENST00000278071.2_Silent_p.T423T	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	423						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGCTGGGACCGGTCAGGCGGC	0.662													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18299	0.0		0.0	False		,,,				2504	0.0																0													24.0	27.0	26.0					10																	106074541		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1269C>T	10.37:g.106074541G>A			D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	NULL	p.T423	ENST00000337478.1	37	c.1269	CCDS7557.1	10																																																																																			ITPRIP	-	NULL	ENSG00000148841		0.662	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIP	HGNC	protein_coding	OTTHUMT00000050204.1	-	0.00	34	0	G	NM_033397		106074541	-1	tier1	-	no_errors	ENST00000278071	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.914	A
KLHL26	55295	genome.wustl.edu	37	19	18775251	18775251	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:18775251C>A	ENST00000300976.4	+	2	354	c.264C>A	c.(262-264)ttC>ttA	p.F88L	KLHL26_ENST00000595182.1_Missense_Mutation_p.F88L|KLHL26_ENST00000599006.1_Missense_Mutation_p.F88L|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.F88L(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGACTACTTCAGGTAAGTGC	0.622																																																	1	Substitution - Missense(1)	prostate(1)											52.0	56.0	55.0					19																	18775251		2203	4300	6503	SO:0001583	missense	0				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.264C>A	19.37:g.18775251C>A	ENSP00000300976:p.Phe88Leu		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F88L	ENST00000300976.4	37	c.264	CCDS12384.1	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485605	0.84854	.	.	ENSG00000167487	ENST00000431920;ENST00000300976	D	0.84944	-1.92	4.14	3.09	0.35607	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.92153	0.7512	M	0.89601	3.045	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.92194	0.5762	10	0.87932	D	0	.	10.345	0.43901	0.0:0.8993:0.0:0.1007	.	88	Q53HC5	KLH26_HUMAN	L	88	ENSP00000300976:F88L	ENSP00000300976:F88L	F	+	3	2	KLHL26	18636251	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	3.801000	0.55545	0.823000	0.34589	0.561000	0.74099	TTC	KLHL26	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000167487		0.622	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL26	HGNC	protein_coding	OTTHUMT00000465145.1		0.00	36	0	C	NM_018316		18775251	+1			no_errors	ENST00000300976	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A
KRT23	25984	genome.wustl.edu	37	17	39092782	39092782	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:39092782G>C	ENST00000209718.3	-	2	498	c.74C>G	c.(73-75)cCc>cGc	p.P25R	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)	25	Head.					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)				GAAGCTCCTGGGCCGGCCCCA	0.701																																																	0													20.0	26.0	24.0					17																	39092782		2184	4278	6462	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.74C>G	17.37:g.39092782G>C	ENSP00000209718:p.Pro25Arg		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.P25R	ENST00000209718.3	37	c.74	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	G	0.188	-1.056204	0.01965	.	.	ENSG00000108244	ENST00000209718	D	0.81659	-1.52	5.73	1.38	0.22167	.	0.696518	0.13103	N	0.413642	T	0.54886	0.1886	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.34800	-0.9814	10	0.16420	T	0.52	.	2.3313	0.04236	0.1521:0.1202:0.4532:0.2745	.	25	Q9C075	K1C23_HUMAN	R	25	ENSP00000209718:P25R	ENSP00000209718:P25R	P	-	2	0	KRT23	36346308	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	-0.430000	0.06973	0.044000	0.15775	0.557000	0.71058	CCC	KRT23	-	NULL	ENSG00000108244		0.701	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1		0.00	31	0	G			39092782	-1			no_errors	ENST00000209718	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.001	C
KRT86	3892	genome.wustl.edu	37	12	52695793	52695793	+	Silent	SNP	C	C	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:52695793C>G	ENST00000423955.2	+	3	271	c.93C>G	c.(91-93)ccC>ccG	p.P31P	KRT86_ENST00000293525.5_Silent_p.P31P|KRT86_ENST00000544024.1_Silent_p.P31P			O43790	KRT86_HUMAN	keratin 86	31	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGCCGCCCCCTACCGTGGCA	0.701																																																	0													18.0	23.0	21.0					12																	52695793		2053	4173	6226	SO:0001819	synonymous_variant	0			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.93C>G	12.37:g.52695793C>G			P78387	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.P31	ENST00000423955.2	37	c.93	CCDS41785.1	12																																																																																			KRT86	-	NULL	ENSG00000170442		0.701	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	HGNC	protein_coding	OTTHUMT00000404911.1	-	0.00	52	0	C	NM_002284		52695793	+1	tier1	-	no_errors	ENST00000293525	ensembl	human	known	74_37	silent	14.81	46	8	SNP	1.000	G
LARS	51520	genome.wustl.edu	37	5	145539938	145539938	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:145539938G>A	ENST00000394434.2	-	7	872	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Splice_Site_p.R190W|LARS_ENST00000274562.9_Splice_Site_p.R209W|LARS_ENST00000510191.1_Splice_Site_p.R182W	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	236					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAAACTTACCGCTTCCCAAAT	0.383																																																	0													61.0	56.0	58.0					5																	145539938		2203	4300	6503	SO:0001630	splice_region_variant	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.707+1C>T	5.37:g.145539938G>A			A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.R236W	ENST00000394434.2	37	c.706	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673805	0.67928	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.72	2.75	0.32379	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.054928	0.64402	D	0.000002	T	0.71736	0.3375	H	0.97158	3.95	0.58432	D	0.999998	D;B;D	0.89917	1.0;0.03;1.0	D;B;D	0.97110	1.0;0.011;0.999	T	0.74910	-0.3503	10	0.87932	D	0	-10.5194	8.1048	0.30879	0.0705:0.0:0.5293:0.4002	.	209;190;236	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	W	236;190;182;209	ENSP00000377954:R236W;ENSP00000437791:R190W;ENSP00000426005:R182W;ENSP00000274562:R209W	ENSP00000274562:R209W	R	-	1	2	LARS	145520131	1.000000	0.71417	0.998000	0.56505	0.736000	0.42039	3.797000	0.55514	0.724000	0.32296	0.655000	0.94253	CGG	LARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-synth_Ia_arc/euk	ENSG00000133706		0.383	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	-	0.00	52	0	G	NM_020117	Missense_Mutation	145539938	-1	tier1	-	no_errors	ENST00000394434	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
LDHAL6CP	121498	genome.wustl.edu	37	12	63397624	63397624	+	lincRNA	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:63397624G>A	ENST00000552996.1	-	0	1070				LDHAL6CP_ENST00000550738.1_RNA																							TGATGAACTTGCCTTTGTGGA	0.438																																																	0																																												0																															12.37:g.63397624G>A				RNA	SNP	-	NULL	ENST00000552996.1	37	NULL		12																																																																																			LDHAL6CP	-	-	ENSG00000250517		0.438	RP11-848D3.5-001	KNOWN	basic	lincRNA	LDHAL6CP	HGNC	lincRNA	OTTHUMT00000406731.1	-	0.00	77	0	G			63397624	+1	tier1	-	no_errors	ENST00000550738	ensembl	human	known	74_37	rna	27.59	63	24	SNP	1.000	A
LGALSL	29094	genome.wustl.edu	37	2	64682498	64682498	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:64682498A>T	ENST00000238875.5	+	2	511	c.57A>T	c.(55-57)ttA>ttT	p.L19F	LGALSL_ENST00000409537.2_Missense_Mutation_p.L19F|AC008074.3_ENST00000441630.1_RNA	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	19						intracellular (GO:0005622)	carbohydrate binding (GO:0030246)										ATGGCCATTTAAACAACTCTT	0.458																																																	0													158.0	164.0	162.0					2																	64682498		2203	4300	6503	SO:0001583	missense	0			AF161508	CCDS1877.1	2p14	2011-08-15			ENSG00000119862	ENSG00000119862			25012	protein-coding gene	gene with protein product	"""galectin-related protein"""					11042152, 16682780	Standard	NM_014181		Approved	HSPC159, GRP	uc002scy.4	Q3ZCW2	OTTHUMG00000129541	ENST00000238875.5:c.57A>T	2.37:g.64682498A>T	ENSP00000238875:p.Leu19Phe		B2RBG8|D6W5E8|Q6P5T6|Q9P005	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.L19F	ENST00000238875.5	37	c.57	CCDS1877.1	2	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751507	0.49257	.	.	ENSG00000119862	ENST00000238875;ENST00000409537	D;D	0.96300	-3.97;-3.97	4.97	1.18	0.20946	.	0.243585	0.35124	N	0.003428	D	0.95319	0.8481	L	0.36672	1.1	0.51012	D	0.999908	D	0.71674	0.998	D	0.83275	0.996	D	0.91676	0.5354	10	0.38643	T	0.18	-6.5795	4.9966	0.14243	0.4573:0.31:0.2327:0.0	.	19	Q3ZCW2	LEGL_HUMAN	F	19	ENSP00000238875:L19F;ENSP00000386242:L19F	ENSP00000238875:L19F	L	+	3	2	AC008074.1	64536002	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.657000	0.24963	0.202000	0.20498	0.460000	0.39030	TTA	LGALSL	-	NULL	ENSG00000119862		0.458	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALSL	HGNC	protein_coding	OTTHUMT00000251731.2	-	0.00	71	0	A	NM_014181		64682498	+1	tier1	-	no_errors	ENST00000238875	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.998	T
LIFR	3977	genome.wustl.edu	37	5	38502838	38502838	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:38502838G>C	ENST00000263409.4	-	11	1663	c.1501C>G	c.(1501-1503)Cca>Gca	p.P501A	LIFR_ENST00000453190.2_Missense_Mutation_p.P501A|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	501	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGAGTGTATGGATTTAACTTG	0.313			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													80.0	78.0	79.0					5																	38502838		2201	4299	6500	SO:0001583	missense	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1501C>G	5.37:g.38502838G>C	ENSP00000263409:p.Pro501Ala		Q6LCD9	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P501A	ENST00000263409.4	37	c.1501	CCDS3927.1	5	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972810	0.74246	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.66638	-0.22;-0.22	5.68	5.68	0.88126	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	M	0.85041	2.73	0.53005	D	0.999965	D	0.76494	0.999	D	0.74023	0.982	D	0.83695	0.0179	10	0.45353	T	0.12	-16.9189	16.5133	0.84292	0.0:0.0:1.0:0.0	.	501	P42702	LIFR_HUMAN	A	501	ENSP00000263409:P501A;ENSP00000398368:P501A	ENSP00000263409:P501A	P	-	1	0	LIFR	38538595	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.457000	0.66672	2.678000	0.91216	0.655000	0.94253	CCA	LIFR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113594		0.313	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1		0.00	115	0	G	NM_002310		38502838	-1			no_errors	ENST00000263409	ensembl	human	known	74_37	missense	6.45	87	6	SNP	0.997	C
LIMA1	51474	genome.wustl.edu	37	12	50571452	50571452	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:50571452C>T	ENST00000341247.4	-	11	1824	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	LIMA1_ENST00000394943.3_Missense_Mutation_p.E560K|LIMA1_ENST00000552491.1_Missense_Mutation_p.E256K|LIMA1_ENST00000552909.1_Missense_Mutation_p.E398K|LIMA1_ENST00000552823.1_Missense_Mutation_p.E399K|LIMA1_ENST00000547825.1_Missense_Mutation_p.E257K|LIMA1_ENST00000552783.1_Missense_Mutation_p.E400K	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	559					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						ATTTCGTCTTCAGGAGGCCAT	0.507																																																	0													127.0	126.0	127.0					12																	50571452		2203	4300	6503	SO:0001583	missense	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.1675G>A	12.37:g.50571452C>T	ENSP00000340184:p.Glu559Lys		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E560K	ENST00000341247.4	37	c.1678	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953732	0.92660	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;D;D;D;D;D	0.89939	-1.82;-1.81;-2.2;-2.59;-1.84;-2.2;-2.21	5.49	5.49	0.81192	.	0.110110	0.64402	D	0.000008	D	0.94275	0.8161	M	0.75777	2.31	0.54753	D	0.999984	P;D;D	0.76494	0.943;0.999;0.992	P;D;D	0.68621	0.749;0.954;0.959	D	0.94317	0.7550	10	0.72032	D	0.01	.	19.7445	0.96247	0.0:1.0:0.0:0.0	.	569;559;398	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	K	256;257;399;560;559;400;398;478	ENSP00000448463:E256K;ENSP00000448706:E257K;ENSP00000450266:E399K;ENSP00000378400:E560K;ENSP00000340184:E559K;ENSP00000448779:E400K;ENSP00000450087:E398K	ENSP00000340184:E559K	E	-	1	0	LIMA1	48857719	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.854000	0.62918	2.739000	0.93911	0.655000	0.94253	GAA	LIMA1	-	NULL	ENSG00000050405		0.507	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	-	0.00	41	0	C	NM_016357		50571452	-1	tier1	-	no_errors	ENST00000394943	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T
TRRAP	8295	genome.wustl.edu	37	7	98611622	98611622	+	IGR	SNP	C	C	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:98611622C>G	ENST00000359863.4	+	0	12677				AC004893.11_ENST00000360902.1_RNA	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAAAGGGCCTTGACAAGAT	0.522																																																	0																																										SO:0001628	intergenic_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		7.37:g.98611622C>G			A4D265|O75218|Q9Y631|Q9Y6H4	RNA	SNP	-	NULL	ENST00000359863.4	37	NULL	CCDS59066.1	7																																																																																			AC004893.11	-	-	ENSG00000242687		0.522	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC101927550	Clone_based_vega_gene	protein_coding	OTTHUMT00000317978.1	-	0.00	20	0	C	NM_003496		98611622	+1	tier1	-	no_errors	ENST00000360902	ensembl	human	known	74_37	rna	17.14	29	6	SNP	0.004	G
LRFN2	57497	genome.wustl.edu	37	6	40399901	40399901	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:40399901G>A	ENST00000338305.6	-	2	1494	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	318	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGATAAGGGGGCTGGGGTCC	0.597																																																	0													40.0	41.0	41.0					6																	40399901		2203	4299	6502	SO:0001583	missense	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.952C>T	6.37:g.40399901G>A	ENSP00000345985:p.Pro318Ser		A5PKU3|Q5SYP9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P318S	ENST00000338305.6	37	c.952	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130232	0.77549	.	.	ENSG00000156564	ENST00000338305	T	0.73258	-0.73	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88768	0.6526	H	0.96720	3.87	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.91606	0.5299	10	0.62326	D	0.03	.	18.2433	0.89974	0.0:0.0:1.0:0.0	.	318	Q9ULH4	LRFN2_HUMAN	S	318	ENSP00000345985:P318S	ENSP00000345985:P318S	P	-	1	0	LRFN2	40507879	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.853000	0.99521	2.661000	0.90470	0.655000	0.94253	CCC	LRFN2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000156564		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1	-	0.00	82	0	G	XM_166372		40399901	-1	tier1	-	no_errors	ENST00000338305	ensembl	human	known	74_37	missense	5.56	102	6	SNP	1.000	A
MCC	4163	genome.wustl.edu	37	5	112389471	112389471	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:112389471C>T	ENST00000302475.4	-	13	2392	c.1829G>A	c.(1828-1830)aGg>aAg	p.R610K	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.R547K|MCC_ENST00000408903.3_Missense_Mutation_p.R800K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	610					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)		CAGATCCAGCCTCTGGCTGTC	0.557																																																	0													80.0	75.0	77.0					5																	112389471		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.1829G>A	5.37:g.112389471C>T	ENSP00000305617:p.Arg610Lys		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.R610K	ENST00000302475.4	37	c.1829	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838806	0.32513	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.33865	2.55;2.56;1.39	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	N	0.04508	-0.205	0.53005	D	0.999962	P;P;P	0.47910	0.841;0.902;0.841	P;D;P	0.63033	0.745;0.91;0.745	T	0.16778	-1.0391	10	0.07990	T	0.79	-28.6418	18.7621	0.91856	0.0:1.0:0.0:0.0	.	610;800;610	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	K	610;547;800	ENSP00000305617:R610K;ENSP00000421615:R547K;ENSP00000386227:R800K	ENSP00000305617:R610K	R	-	2	0	MCC	112417370	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	6.179000	0.71974	2.433000	0.82419	0.563000	0.77884	AGG	MCC	-	NULL	ENSG00000171444		0.557	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	-	0.00	42	0	C	NM_001085377		112389471	-1	tier1	-	no_errors	ENST00000302475	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T
MDGA2	161357	genome.wustl.edu	37	14	47566228	47566228	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr14:47566228G>T	ENST00000399232.2	-	6	1181	c.817C>A	c.(817-819)Cct>Act	p.P273T	MDGA2_ENST00000426342.1_Missense_Mutation_p.P44T|MDGA2_ENST00000439988.3_Missense_Mutation_p.P342T|MDGA2_ENST00000357362.3_Missense_Mutation_p.P44T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	273	Ig-like 3.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTGAGAGAAGGTGCAGGCTCT	0.468																																																	0													132.0	126.0	128.0					14																	47566228		1918	4126	6044	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.817C>A	14.37:g.47566228G>T	ENSP00000382178:p.Pro273Thr		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.P342T	ENST00000399232.2	37	c.1024		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.550022|4.550022	0.86127|0.86127	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|.	0.13901|.	2.55;2.55;2.55;2.55|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.51477|.	U|.	0.000090|.	D|D	0.85986|0.85986	0.5825|0.5825	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.67382|.	0.951|.	D|D	0.88074|0.88074	0.2802|0.2802	10|5	0.72032|.	D|.	0.01|.	.|.	18.6475|18.6475	0.91416|0.91416	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	273|.	Q7Z553|.	MDGA2_HUMAN|.	T|N	273;44;342;44|47	ENSP00000400011:P273T;ENSP00000405456:P44T;ENSP00000382178:P342T;ENSP00000349925:P44T|.	ENSP00000349925:P44T|.	P|T	-|-	1|2	0|0	MDGA2|MDGA2	46635978|46635978	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.995000|0.995000	0.86356|0.86356	9.025000|9.025000	0.93694|0.93694	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	CCT|ACC	MDGA2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000272781		0.468	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5		0.00	50	0	G	NM_182830		47566228	-1			no_errors	ENST00000439988	ensembl	human	known	74_37	missense	6.38	43	3	SNP	0.998	T
MFN1	55669	genome.wustl.edu	37	3	179069813	179069813	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:179069813T>A	ENST00000471841.1	+	3	364	c.238T>A	c.(238-240)Ttt>Att	p.F80I	MFN1_ENST00000263969.5_Missense_Mutation_p.F80I|MFN1_ENST00000280653.7_Missense_Mutation_p.F80I	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	80	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAAGGTGGCATTTTTTGGCAG	0.388																																																	0													143.0	149.0	147.0					3																	179069813		2203	4300	6503	SO:0001583	missense	0			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.238T>A	3.37:g.179069813T>A	ENSP00000420617:p.Phe80Ile		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.F80I	ENST00000471841.1	37	c.238	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839835	0.71488	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	L	0.52905	1.665	0.80722	D	1	D;P	0.58620	0.983;0.92	P;P	0.60415	0.874;0.552	D	0.94252	0.7494	10	0.29301	T	0.29	-11.4806	15.2812	0.73787	0.0:0.0:0.0:1.0	.	108;80	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	I	80	ENSP00000420617:F80I;ENSP00000280653:F80I;ENSP00000419134:F80I;ENSP00000263969:F80I	ENSP00000263969:F80I	F	+	1	0	MFN1	180552507	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.612000	0.82975	2.078000	0.62432	0.383000	0.25322	TTT	MFN1	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000171109		0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	-	0.00	79	0	T	NM_017927		179069813	+1	tier1	-	no_errors	ENST00000263969	ensembl	human	known	74_37	missense	14.29	60	10	SNP	0.999	A
MFN1	55669	genome.wustl.edu	37	3	179069816	179069816	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:179069816T>G	ENST00000471841.1	+	3	367	c.241T>G	c.(241-243)Ttt>Gtt	p.F81V	MFN1_ENST00000263969.5_Missense_Mutation_p.F81V|MFN1_ENST00000280653.7_Missense_Mutation_p.F81V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	81	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GGTGGCATTTTTTGGCAGGTA	0.388																																																	0													137.0	144.0	141.0					3																	179069816		2203	4300	6503	SO:0001583	missense	0			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.241T>G	3.37:g.179069816T>G	ENSP00000420617:p.Phe81Val		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.F81V	ENST00000471841.1	37	c.241	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	T	17.95	3.513841	0.64522	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.048200	0.85682	D	0.000000	D	0.96049	0.8713	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95039	0.8176	10	0.28530	T	0.3	-18.0397	15.2812	0.73787	0.0:0.0:0.0:1.0	.	109;81	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	V	81	ENSP00000420617:F81V;ENSP00000280653:F81V;ENSP00000419134:F81V;ENSP00000263969:F81V	ENSP00000263969:F81V	F	+	1	0	MFN1	180552510	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.612000	0.82975	2.078000	0.62432	0.383000	0.25322	TTT	MFN1	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000171109		0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	-	0.00	79	0	T	NM_017927		179069816	+1	tier1	-	no_errors	ENST00000263969	ensembl	human	known	74_37	missense	13.24	59	9	SNP	1.000	G
MFN1	55669	genome.wustl.edu	37	3	179107819	179107819	+	Silent	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:179107819G>T	ENST00000471841.1	+	17	2166	c.2040G>T	c.(2038-2040)ctG>ctT	p.L680L	MFN1_ENST00000263969.5_Silent_p.L680L|MFN1_ENST00000280653.7_Silent_p.L569L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	680					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTGCTCGCCTGTGCCAACAAG	0.308																																																	0													61.0	66.0	64.0					3																	179107819		2203	4299	6502	SO:0001819	synonymous_variant	0			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.2040G>T	3.37:g.179107819G>T			B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.L680	ENST00000471841.1	37	c.2040	CCDS3228.1	3																																																																																			MFN1	-	pfam_Fzo/mitofusin_HR2	ENSG00000171109		0.308	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	-	0.00	29	0	G	NM_017927		179107819	+1	tier1	-	no_errors	ENST00000263969	ensembl	human	known	74_37	silent	16.39	51	10	SNP	1.000	T
MICAL3	57553	genome.wustl.edu	37	22	18300174	18300174	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr22:18300174C>G	ENST00000441493.2	-	26	5605	c.5253G>C	c.(5251-5253)aaG>aaC	p.K1751N	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1751					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCTTCTTCTTCTTGTCCTTCT	0.637																																																	0													27.0	29.0	28.0					22																	18300174		1939	4118	6057	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5253G>C	22.37:g.18300174C>G	ENSP00000416015:p.Lys1751Asn		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.K1751N	ENST00000441493.2	37	c.5253	CCDS46659.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.548|9.548	1.115072|1.115072	0.20795|0.20795	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.68181|.	-0.31|.	4.65|4.65	0.234|0.234	0.15390|0.15390	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48205|0.48205	0.1487|0.1487	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P|.	0.50066|.	0.931|.	P|.	0.46629|.	0.522|.	T|T	0.24440|0.24440	-1.0160|-1.0160	10|5	0.35671|.	T|.	0.21|.	.|.	9.1894|9.1894	0.37189|0.37189	0.0:0.7024:0.0:0.2976|0.0:0.7024:0.0:0.2976	.|.	1751|.	Q7RTP6|.	MICA3_HUMAN|.	N|T	1751|733	ENSP00000416015:K1751N|.	ENSP00000416015:K1751N|.	K|R	-|-	3|2	2|0	XXbac-B461K10.4|XXbac-B461K10.4	16680174|16680174	0.993000|0.993000	0.37304|0.37304	0.985000|0.985000	0.45067|0.45067	0.918000|0.918000	0.54935|0.54935	0.728000|0.728000	0.26013|0.26013	-0.021000|-0.021000	0.14009|0.14009	-0.258000|-0.258000	0.10820|0.10820	AAG|AGA	MICAL3	-	NULL	ENSG00000243156		0.637	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1		0.00	43	0	C			18300174	-1			no_errors	ENST00000441493	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	G
MMP9	4318	genome.wustl.edu	37	20	44639644	44639644	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:44639644G>T	ENST00000372330.3	+	4	623	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S	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)	202					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)	TCAGGGAGACGCCCATTTCGA	0.602																																																	0													88.0	84.0	85.0					20																	44639644		2203	4300	6503	SO:0001583	missense	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.604G>T	20.37:g.44639644G>T	ENSP00000361405:p.Ala202Ser		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.A202S	ENST00000372330.3	37	c.604	CCDS13390.1	20	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645216	0.67358	.	.	ENSG00000100985	ENST00000372330	T	0.22743	1.94	4.62	4.62	0.57501	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.03717	-1.1010	10	0.12430	T	0.62	.	16.9809	0.86327	0.0:0.0:1.0:0.0	.	202	P14780	MMP9_HUMAN	S	202	ENSP00000361405:A202S	ENSP00000361405:A202S	A	+	1	0	MMP9	44073051	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.391000	0.34475	2.553000	0.86117	0.650000	0.86243	GCC	MMP9	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000100985		0.602	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1		0.00	63	0	G			44639644	+1			no_errors	ENST00000372330	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T
MSH4	4438	genome.wustl.edu	37	1	76333264	76333264	+	Silent	SNP	T	T	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:76333264T>C	ENST00000263187.3	+	9	1400	c.1296T>C	c.(1294-1296)gaT>gaC	p.D432D		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	432					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AACTTGTGGATCCTTTAAAGG	0.308								Mismatch excision repair (MMR)																																									0													90.0	94.0	93.0					1																	76333264		2201	4296	6497	SO:0001819	synonymous_variant	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1296T>C	1.37:g.76333264T>C			Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.D432	ENST00000263187.3	37	c.1296	CCDS670.1	1																																																																																			MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core	ENSG00000057468		0.308	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1		0.00	48	0	T	NM_002440		76333264	+1			no_errors	ENST00000263187	ensembl	human	known	74_37	silent	8.33	55	5	SNP	0.995	C
MUC12	10071	genome.wustl.edu	37	7	100612955	100612956	+	In_Frame_Ins	INS	-	-	CTG	rs150485202|rs374842509		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:100612955_100612956insCTG	ENST00000379442.3	+	1	52_53	c.52_53insCTG	c.(52-54)act>aCTGct	p.18_19insA	RP11-395B7.2_ENST00000420080.1_RNA|MUC12_ENST00000536621.1_In_Frame_Ins_p.18_19insA			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	18					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						CGCGTCCGTTACTACAGTGACA	0.634																																																	0										747,2323		50,647,838						-0.8	0.0		dbSNP_130	49	1170,4352		68,1034,1659	no	coding	MUC12	NM_001164462.1		118,1681,2497	A1A1,A1R,RR		21.188,24.3322,22.3115				1917,6675				SO:0001652	inframe_insertion	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	Exception_encountered	7.37:g.100612955_100612956insCTG	ENSP00000368755:p.Thr18_Thr19insAla		A6ND38|F5GWV9|Q9UKN0	In_Frame_Ins	INS	pfam_SEA_dom	p.19in_frame_insA	ENST00000379442.3	37	c.52_53		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.634	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1		0.00	35	0	-	XM_379904		100612956	+1	tier1		no_errors	ENST00000536621	ensembl	human	known	74_37	in_frame_ins	15.62	27	5	INS	0.000:0.000	CTG
MUC15	143662	genome.wustl.edu	37	11	26586795	26586795	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:26586795T>A	ENST00000455601.2	-	2	729	c.611A>T	c.(610-612)tAt>tTt	p.Y204F	ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.Y231F|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.Y231F|MUC15_ENST00000529533.1_Missense_Mutation_p.Y231F|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.Y231F	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	204					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						TTTTTCTTGATAAGGGGTAAA	0.388																																																	0													133.0	134.0	133.0					11																	26586795		2203	4300	6503	SO:0001583	missense	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.611A>T	11.37:g.26586795T>A	ENSP00000397339:p.Tyr204Phe		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	NULL	p.Y231F	ENST00000455601.2	37	c.692	CCDS7859.1	11	.	.	.	.	.	.	.	.	.	.	T	16.06	3.014580	0.54468	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.29142	1.82;1.8;1.58;1.8;1.58	4.24	3.13	0.36017	.	0.309682	0.23524	N	0.047247	T	0.40619	0.1124	L	0.46157	1.445	0.09310	N	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.74674	0.984;0.937;0.937	T	0.07654	-1.0761	10	0.42905	T	0.14	-9.5414	5.6247	0.17477	0.0:0.1199:0.0:0.8801	.	231;204;231	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	F	204;231;231;231;231	ENSP00000397339:Y204F;ENSP00000416753:Y231F;ENSP00000281268:Y231F;ENSP00000431983:Y231F;ENSP00000431945:Y231F	ENSP00000281268:Y231F	Y	-	2	0	MUC15	26543371	0.213000	0.23551	0.078000	0.20375	0.095000	0.18619	1.321000	0.33678	1.866000	0.54105	0.528000	0.53228	TAT	MUC15	-	NULL	ENSG00000169550		0.388	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1	-	0.00	131	0	T	NM_145650		26586795	-1	tier1	-	no_errors	ENST00000436318	ensembl	human	known	74_37	missense	13.53	115	18	SNP	0.034	A
MUC20	200958	genome.wustl.edu	37	3	195453002	195453002	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:195453002G>T	ENST00000447234.2	+	2	1654	c.1528G>T	c.(1528-1530)Gtg>Ttg	p.V510L	MUC20_ENST00000320736.6_Missense_Mutation_p.V339L|MUC20_ENST00000445522.2_Missense_Mutation_p.V475L|MUC20_ENST00000436408.1_Missense_Mutation_p.V510L	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	510	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGAAAGAGAAGTGACAGCACC	0.592																																																	0													59.0	53.0	55.0					3																	195453002		2160	4247	6407	SO:0001583	missense	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1528G>T	3.37:g.195453002G>T	ENSP00000414350:p.Val510Leu		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.V510L	ENST00000447234.2	37	c.1528		3	.	.	.	.	.	.	.	.	.	.	G	8.776	0.927149	0.18056	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.16743	2.75;2.78;2.91;2.32	3.86	-1.32	0.09201	.	1.458410	0.04410	N	0.365916	T	0.08133	0.0203	N	0.04508	-0.205	0.09310	N	1	B	0.19331	0.035	B	0.14578	0.011	T	0.34054	-0.9844	10	0.30078	T	0.28	4.4	7.2755	0.26281	0.5217:0.0:0.4783:0.0	.	339	E9PH32	.	L	510;339;510;475	ENSP00000414350:V510L;ENSP00000325431:V339L;ENSP00000396774:V510L;ENSP00000405629:V475L	ENSP00000325431:V339L	V	+	1	0	MUC20	196938673	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.060000	0.11712	-0.334000	0.08463	-0.492000	0.04666	GTG	MUC20	-	NULL	ENSG00000176945		0.592	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	-	0.00	122	0	G	NM_152673		195453002	+1	tier1	-	no_errors	ENST00000447234	ensembl	human	known	74_37	missense	6.16	137	9	SNP	0.000	T
MUC5AC	4586	genome.wustl.edu	37	11	1216458	1216458	+	3'UTR	SNP	G	G	A	rs543190470		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:1216458G>A	ENST00000358378.6	+	0	2022							P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CCACCACACCGCCTGCTCCGT	0.677																																																	0													50.0	49.0	50.0					11																	1216458		872	1989	2861	SO:0001624	3_prime_UTR_variant	0			AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000358378.6:c.*2019G>A	11.37:g.1216458G>A			O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	RNA	SNP	-	NULL	ENST00000358378.6	37	NULL		11																																																																																			MUC5AC	-	-	ENSG00000215182		0.677	MUC5AC-002	PUTATIVE	basic|exp_conf	processed_transcript	MUC5AC	HGNC	protein_coding	OTTHUMT00000396096.2	-	0.00	28	0	G	XM_001130382		1216458	+1	tier1	-	no_errors	ENST00000358378	ensembl	human	putative	74_37	rna	25.00	21	7	SNP	0.000	A
NAT9	26151	genome.wustl.edu	37	17	72767990	72767990	+	Missense_Mutation	SNP	G	G	A	rs148689395		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:72767990G>A	ENST00000357814.3	-	7	570	c.497C>T	c.(496-498)aCg>aTg	p.T166M	NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000581136.1_Missense_Mutation_p.T161M|NAT9_ENST00000583757.1_Intron|NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000578822.1_Missense_Mutation_p.T171M|NAT9_ENST00000582524.1_Intron|NAT9_ENST00000582870.1_Missense_Mutation_p.T170M|NAT9_ENST00000580632.1_Missense_Mutation_p.T166M|NAT9_ENST00000580301.1_Missense_Mutation_p.T165M	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	166	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AACACTGCTCGTAGCCACCTA	0.562																																																	0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	86.0	82.0	84.0		497	-0.1	1.0	17	dbSNP_134	84	0,8600		0,0,4300	no	missense	NAT9	NM_015654.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	166/208	72767990	1,13005	2203	4300	6503	SO:0001583	missense	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.497C>T	17.37:g.72767990G>A	ENSP00000350467:p.Thr166Met		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.T166M	ENST00000357814.3	37	c.497	CCDS11706.1	17	.	.	.	.	.	.	.	.	.	.	G	2.666	-0.278670	0.05679	2.27E-4	0.0	ENSG00000109065	ENST00000357814	T	0.44881	0.91	5.09	-0.132	0.13489	Acyl-CoA N-acyltransferase (2);	0.733388	0.12977	N	0.423614	T	0.25457	0.0619	N	0.25286	0.73	0.80722	D	1	B;B	0.12630	0.006;0.001	B;B	0.06405	0.002;0.002	T	0.04178	-1.0971	10	0.38643	T	0.18	-8.7724	7.7133	0.28690	0.7151:0.0:0.0659:0.219	.	165;166	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	M	166	ENSP00000350467:T166M	ENSP00000350467:T166M	T	-	2	0	NAT9	70279585	0.691000	0.27709	0.982000	0.44146	0.003000	0.03518	1.741000	0.38238	-0.236000	0.09753	-1.421000	0.01109	ACG	NAT9	-	superfamily_Acyl_CoA_acyltransferase	ENSG00000109065		0.562	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	-	0.00	39	0	G	NM_015654		72767990	-1	tier1	rs148689395	no_errors	ENST00000357814	ensembl	human	known	74_37	missense	7.81	59	5	SNP	0.980	A
NCAPH2	29781	genome.wustl.edu	37	22	50960627	50960627	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr22:50960627T>C	ENST00000420993.2	+	14	1302	c.1180T>C	c.(1180-1182)Tgg>Cgg	p.W394R	NCAPH2_ENST00000395701.3_Missense_Mutation_p.W394R|NCAPH2_ENST00000299821.11_Missense_Mutation_p.W394R|NCAPH2_ENST00000520297.1_3'UTR|CTA-384D8.36_ENST00000608319.1_RNA	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	394					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGTCCTGTACTGGACACACGT	0.612																																																	0													73.0	78.0	76.0					22																	50960627		2203	4300	6503	SO:0001583	missense	0			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1180T>C	22.37:g.50960627T>C	ENSP00000410088:p.Trp394Arg		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.W394R	ENST00000420993.2	37	c.1180	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	T	16.96	3.266053	0.59540	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.93	4.93	0.64822	.	0.239353	0.37219	N	0.002181	T	0.75057	0.3798	M	0.65975	2.015	0.44995	D	0.998014	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72846	-0.4169	9	0.25751	T	0.34	-15.09	13.4087	0.60929	0.0:0.0:0.0:1.0	.	394;372;394	Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;CNDH2_HUMAN	R	394	.	ENSP00000299821:W394R	W	+	1	0	NCAPH2	49307493	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	3.697000	0.54764	1.863000	0.54032	0.482000	0.46254	TGG	NCAPH2	-	pfam_Condensin_II_H2-like	ENSG00000025770		0.612	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1		0.00	44	0	T	NM_152299		50960627	+1			no_errors	ENST00000299821	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	C
NDUFB1	4707	genome.wustl.edu	37	14	92587941	92587941	+	Intron	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr14:92587941G>A	ENST00000553514.1	-	1	83				NDUFB1_ENST00000329559.3_Intron|NDUFB1_ENST00000556555.1_5'UTR|NDUFB1_ENST00000605997.1_Intron|CPSF2_ENST00000298875.4_5'Flank|NDUFB1_ENST00000555441.1_5'Flank			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa						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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		CGCCACCGTCGCCGTGATCCT	0.682																																																	0													17.0	21.0	19.0					14																	92587941		2158	4224	6382	SO:0001627	intron_variant	0			BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"""Mitochondrial respiratory chain complex / Complex I"""	7695	protein-coding gene	gene with protein product	"""complex I MNLL subunit"""	603837	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"""			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000553514.1:c.122+44C>T	14.37:g.92587941G>A			A0AV68	RNA	SNP	-	NULL	ENST00000553514.1	37	NULL		14																																																																																			NDUFB1	-	-	ENSG00000183648		0.682	NDUFB1-004	KNOWN	basic|appris_principal	protein_coding	NDUFB1	HGNC	protein_coding	OTTHUMT00000412116.2	-	0.00	70	0	G	NM_004545		92587941	-1	tier1	-	no_errors	ENST00000556555	ensembl	human	putative	74_37	rna	8.62	52	5	SNP	0.000	A
NINL	22981	genome.wustl.edu	37	20	25472115	25472115	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:25472115C>G	ENST00000278886.6	-	11	1430	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q	NINL_ENST00000422516.1_Missense_Mutation_p.E453Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	453					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCCTCCACCTCAGACCGCAGG	0.657																																																	0													82.0	79.0	80.0					20																	25472115		2203	4300	6503	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1357G>C	20.37:g.25472115C>G	ENSP00000278886:p.Glu453Gln		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.E453Q	ENST00000278886.6	37	c.1357	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046595	0.75846	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.32988	1.73;1.43	4.6	4.6	0.57074	.	0.410444	0.23151	N	0.051353	T	0.45816	0.1361	L	0.52126	1.63	0.32900	D	0.51305	D;D	0.89917	0.999;1.0	D;D	0.80764	0.935;0.994	T	0.48536	-0.9027	10	0.21014	T	0.42	-7.3627	12.8533	0.57871	0.0:1.0:0.0:0.0	.	453;453	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	Q	453	ENSP00000278886:E453Q;ENSP00000410431:E453Q	ENSP00000278886:E453Q	E	-	1	0	NINL	25420115	0.954000	0.32549	0.931000	0.37212	0.655000	0.38815	3.877000	0.56123	2.401000	0.81631	0.306000	0.20318	GAG	NINL	-	NULL	ENSG00000101004		0.657	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	-	0.00	67	0	C	NM_025176		25472115	-1	tier1	-	no_errors	ENST00000278886	ensembl	human	known	74_37	missense	11.29	55	7	SNP	0.992	G
NLN	57486	genome.wustl.edu	37	5	65084238	65084238	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:65084238G>T	ENST00000380985.5	+	8	1430	c.1252G>T	c.(1252-1254)Gtt>Ttt	p.V418F	NLN_ENST00000502464.1_Missense_Mutation_p.V314F	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	418						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GAACAAGAGTGTTACACTTTA	0.438																																																	0													188.0	187.0	188.0					5																	65084238		2203	4300	6503	SO:0001583	missense	0			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1252G>T	5.37:g.65084238G>T	ENSP00000370372:p.Val418Phe		Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.V418F	ENST00000380985.5	37	c.1252	CCDS3989.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.142365|5.142365	0.94560|0.94560	.|.	.|.	ENSG00000123213|ENSG00000123213	ENST00000509935|ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299	.|T;T;T	.|0.39592	.|1.07;1.07;1.07	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Metallopeptidase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78704|0.78704	0.4325|0.4325	H|H	0.97023|0.97023	3.925|3.925	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.984;0.984;1.0	.|P;P;D	.|0.97110	.|0.901;0.901;1.0	D|D	0.84701|0.84701	0.0728|0.0728	5|10	.|0.87932	.|D	.|0	-20.402|-20.402	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|113;418;418	.|Q96K48;Q9BYT8;Q9BQD0	.|.;NEUL_HUMAN;.	F|F	14|418;314;418;146	.|ENSP00000370372:V418F;ENSP00000423214:V314F;ENSP00000427417:V146F	.|ENSP00000339283:V418F	C|V	+|+	2|1	0|0	NLN|NLN	65119994|65119994	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	7.660000|7.660000	0.83776|0.83776	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	TGT|GTT	NLN	-	pfam_Pept_M3A_M3B	ENSG00000123213		0.438	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1		0.00	53	0	G			65084238	+1			no_errors	ENST00000380985	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
LINC01378	103689918	genome.wustl.edu	37	4	118497188	118497188	+	lincRNA	SNP	A	A	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr4:118497188A>G	ENST00000422145.3	+	0	159				NT5C3AP1_ENST00000441170.1_RNA																							CACCCCCGCCACCAGGGCGCA	0.612																																																	0																																												0																															4.37:g.118497188A>G				RNA	SNP	-	NULL	ENST00000422145.3	37	NULL		4																																																																																			NT5C3AP1	-	-	ENSG00000213492		0.612	AC092661.1-002	KNOWN	basic	lincRNA	NT5C3AP1	HGNC	lincRNA	OTTHUMT00000291362.3	-	0.00	61	0	A			118497188	-1	tier1	-	no_errors	ENST00000441170	ensembl	human	known	74_37	rna	8.00	46	4	SNP	0.025	G
NUP93	9688	genome.wustl.edu	37	16	56878425	56878425	+	Silent	SNP	A	A	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr16:56878425A>G	ENST00000308159.5	+	22	2485	c.2364A>G	c.(2362-2364)caA>caG	p.Q788Q	NUP93_ENST00000564887.1_Silent_p.Q665Q|NUP93_ENST00000542526.1_Silent_p.Q665Q|NUP93_ENST00000569842.1_Missense_Mutation_p.S828G	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	788					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						TCCGAAGTCAAGCCCGCACTC	0.493																																					Colon(33;610 796 1305 1705 38917)												0													106.0	86.0	93.0					16																	56878425		2198	4300	6498	SO:0001819	synonymous_variant	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.2364A>G	16.37:g.56878425A>G			B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.S828G	ENST00000308159.5	37	c.2482	CCDS10769.1	16																																																																																			NUP93	-	NULL	ENSG00000102900		0.493	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	-	0.00	171	0	A	NM_014669		56878425	+1	tier1	-	no_errors	ENST00000569842	ensembl	human	putative	74_37	missense	22.92	111	33	SNP	1.000	G
OCLN	100506658	genome.wustl.edu	37	5	68809798	68809798	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:68809798C>A	ENST00000355237.2	+	4	1189	c.753C>A	c.(751-753)ttC>ttA	p.F251L	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_De_novo_Start_InFrame|OCLN_ENST00000396442.2_Missense_Mutation_p.F251L|OCLN_ENST00000380766.2_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	251	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TACTGGGGTTCATGATTATTG	0.338																																																	0													123.0	111.0	115.0					5																	68809798		2203	4300	6503	SO:0001583	missense	0			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.753C>A	5.37:g.68809798C>A	ENSP00000347379:p.Phe251Leu		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin	p.F251L	ENST00000355237.2	37	c.753	CCDS4006.1	5	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507387	0.64410	.	.	ENSG00000197822	ENST00000355237;ENST00000396442	T;T	0.35789	1.29;1.29	5.84	4.05	0.47172	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.67397	2.05	0.80722	D	1	D	0.65815	0.995	D	0.63381	0.914	T	0.53892	-0.8374	10	0.45353	T	0.12	-41.6089	12.1978	0.54307	0.0:0.8564:0.0:0.1436	.	251	Q16625	OCLN_HUMAN	L	251	ENSP00000347379:F251L;ENSP00000379719:F251L	ENSP00000347379:F251L	F	+	3	2	OCLN	68845554	0.575000	0.26692	0.915000	0.36163	0.648000	0.38561	1.151000	0.31651	1.473000	0.48159	0.591000	0.81541	TTC	OCLN	-	pfam_Marvel,pirsf_Occludin	ENSG00000197822		0.338	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	-	0.00	48	0	C	NM_002538		68809798	+1	tier1	-	no_errors	ENST00000355237	ensembl	human	known	74_37	missense	10.17	53	6	SNP	0.937	A
OR2A4	79541	genome.wustl.edu	37	6	132022418	132022418	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:132022418C>T	ENST00000315453.2	-	1	217	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	42					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		AGTATGGTCCCGTTCCCCAGC	0.577																																																	0													16.0	17.0	17.0					6																	132022418		2132	4193	6325	SO:0001583	missense	0			AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"""GPCR / Class A : Olfactory receptors"""	14729	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 10"""	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.124G>A	6.37:g.132022418C>T	ENSP00000319546:p.Gly42Arg		Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.G42R	ENST00000315453.2	37	c.124	CCDS5149.1	6	.	.	.	.	.	.	.	.	.	.	-	7.370	0.626638	0.14257	.	.	ENSG00000180658	ENST00000315453	T	0.00441	7.41	1.68	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37261	U	0.002168	T	0.00412	0.0013	M	0.77313	2.365	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52975	-0.8503	10	0.39692	T	0.17	.	6.7069	0.23257	0.0:0.6999:0.3001:0.0	.	42	O95047	OR2A4_HUMAN	R	42	ENSP00000319546:G42R	ENSP00000319546:G42R	G	-	1	0	OR2A4	132064111	0.000000	0.05858	0.740000	0.30986	0.000000	0.00434	-5.764000	0.00100	0.975000	0.38392	0.000000	0.15137	GGG	OR2A4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180658		0.577	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A4	HGNC	protein_coding	OTTHUMT00000109221.1	-	0.00	60	0	C	NM_030908		132022418	-1	tier1	-	no_errors	ENST00000315453	ensembl	human	known	74_37	missense	13.33	52	8	SNP	0.099	T
OR51S1	119692	genome.wustl.edu	37	11	4869959	4869959	+	Nonsense_Mutation	SNP	G	G	T	rs140920607		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:4869959G>T	ENST00000322101.2	-	1	555	c.480C>A	c.(478-480)tgC>tgA	p.C160*	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	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C160*(1)		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)		GGAGACCCAGGCATCGAAAAG	0.552																																																	1	Substitution - Nonsense(1)	lung(1)											102.0	102.0	102.0					11																	4869959		2201	4298	6499	SO:0001587	stop_gained	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.480C>A	11.37:g.4869959G>T	ENSP00000322754:p.Cys160*		B9EGZ1|Q6IFI2	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C160*	ENST00000322101.2	37	c.480	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403386	0.62288	.	.	ENSG00000176922	ENST00000322101	.	.	.	5.25	-1.31	0.09230	.	0.000000	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.368	9.7531	0.40487	0.5186:0.0:0.4814:0.0	.	.	.	.	X	160	.	ENSP00000322754:C160X	C	-	3	2	OR51S1	4826535	0.000000	0.05858	0.973000	0.42090	0.649000	0.38597	-0.461000	0.06712	-0.100000	0.12241	0.655000	0.94253	TGC	OR51S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176922		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1		0.00	63	0	G	NM_001004758		4869959	-1			no_errors	ENST00000322101	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	0.019	T
OR2AG2	338755	genome.wustl.edu	37	11	6789525	6789525	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:6789525G>C	ENST00000338569.2	-	1	761	c.664C>G	c.(664-666)Cta>Gta	p.L222V		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGTGAATAGGACTAGTGTG	0.498																																																	0													88.0	78.0	81.0					11																	6789525		2201	4296	6497	SO:0001583	missense	0			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.664C>G	11.37:g.6789525G>C	ENSP00000342697:p.Leu222Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L222V	ENST00000338569.2	37	c.664	CCDS31413.1	11	.	.	.	.	.	.	.	.	.	.	G	5.492	0.275867	0.10403	.	.	ENSG00000188124	ENST00000338569	T	0.00188	8.59	4.47	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001347	T	0.00271	0.0008	L	0.45228	1.405	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.52719	-0.8538	10	0.87932	D	0	.	1.999	0.03463	0.1766:0.1554:0.508:0.16	.	222	A6NM03	O2AG2_HUMAN	V	222	ENSP00000342697:L222V	ENSP00000342697:L222V	L	-	1	2	OR2AG2	6746101	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-3.186000	0.00566	0.367000	0.24454	-0.137000	0.14449	CTA	OR2AG2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188124		0.498	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG2	HGNC	protein_coding	OTTHUMT00000386775.1	-	0.00	82	0	G	NM_001004490		6789525	-1	tier1	-	no_errors	ENST00000338569	ensembl	human	known	74_37	missense	13.19	79	12	SNP	0.001	C
OR5AN1	390195	genome.wustl.edu	37	11	59132150	59132150	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:59132150C>A	ENST00000313940.2	+	1	266	c.219C>A	c.(217-219)tgC>tgA	p.C73*		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TAGATGTCTGCTATATCAGCT	0.418																																																	0													186.0	177.0	180.0					11																	59132150		2201	4295	6496	SO:0001587	stop_gained	0			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.219C>A	11.37:g.59132150C>A	ENSP00000320302:p.Cys73*		B9EIS2|Q6IEV4	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C73*	ENST00000313940.2	37	c.219	CCDS31559.1	11	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627339	0.66901	.	.	ENSG00000176495	ENST00000313940	.	.	.	4.42	4.42	0.53409	.	0.109406	0.41938	D	0.000800	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.501	15.9406	0.79750	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000320302:C73X	C	+	3	2	OR5AN1	58888726	0.003000	0.15002	0.774000	0.31636	0.544000	0.35116	0.229000	0.17833	2.150000	0.67090	0.655000	0.94253	TGC	OR5AN1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000176495		0.418	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AN1	HGNC	protein_coding	OTTHUMT00000394231.1	-	0.00	63	0	C	NM_001004729		59132150	+1	tier1	-	no_errors	ENST00000313940	ensembl	human	known	74_37	nonsense	22.95	47	14	SNP	0.846	A
OR6K3	391114	genome.wustl.edu	37	1	158687131	158687131	+	Silent	SNP	A	A	G	rs371617141		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:158687131A>G	ENST00000368146.1	-	1	822	c.823T>C	c.(823-825)Ttg>Ctg	p.L275L	OR6K3_ENST00000368145.1_Silent_p.L259L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L275V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CTGAAACGCAAGTACATGAGT	0.463																																																	1	Substitution - Missense(1)	large_intestine(1)						A		0,4406		0,0,2203	149.0	129.0	136.0		775	-7.0	0.0	1		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6K3	NM_001005327.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		259/316	158687131	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.823T>C	1.37:g.158687131A>G			Q5VUV0|Q6IFR5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L275	ENST00000368146.1	37	c.823		1																																																																																			OR6K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000203757		0.463	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding		-	0.00	54	0	A			158687131	-1	tier1	-	no_errors	ENST00000368146	ensembl	human	known	74_37	silent	23.40	36	11	SNP	0.000	G
OR8K1	390157	genome.wustl.edu	37	11	56113842	56113842	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:56113842T>G	ENST00000279783.2	+	1	422	c.328T>G	c.(328-330)Ttt>Gtt	p.F110V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F110V(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GCTAGCATTCTTTGAGATTTT	0.408										HNSCC(65;0.19)																																							1	Substitution - Missense(1)	large_intestine(1)											180.0	181.0	181.0					11																	56113842		2201	4296	6497	SO:0001583	missense	0			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.328T>G	11.37:g.56113842T>G	ENSP00000279783:p.Phe110Val		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F110V	ENST00000279783.2	37	c.328	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092695	0.36952	.	.	ENSG00000150261	ENST00000279783	T	0.00377	7.69	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000079	T	0.00328	0.0010	M	0.63428	1.95	0.09310	N	1	P	0.45474	0.859	B	0.37833	0.259	T	0.52155	-0.8613	10	0.72032	D	0.01	-22.2381	9.2	0.37251	0.0:0.1335:0.0:0.8665	.	110	Q8NGG5	OR8K1_HUMAN	V	110	ENSP00000279783:F110V	ENSP00000279783:F110V	F	+	1	0	OR8K1	55870418	0.756000	0.28383	0.630000	0.29268	0.991000	0.79684	1.479000	0.35453	1.862000	0.54008	0.448000	0.29417	TTT	OR8K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000150261		0.408	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	-	0.00	37	0	T	NM_001002907		56113842	+1	tier1	-	no_errors	ENST00000279783	ensembl	human	known	74_37	missense	12.50	35	5	SNP	0.001	G
PAX1	5075	genome.wustl.edu	37	20	21687380	21687380	+	Silent	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:21687380C>T	ENST00000398485.2	+	2	645	c.591C>T	c.(589-591)cgC>cgT	p.R197R	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.R173R	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	197	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				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						GGGAGATCCGCGACCGGCTGC	0.637																																																	0													51.0	55.0	53.0					20																	21687380		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.591C>T	20.37:g.21687380C>T			B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.R197	ENST00000398485.2	37	c.591	CCDS13146.2	20																																																																																			PAX1	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom	ENSG00000125813		0.637	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0.00	93	0	C			21687380	+1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	silent	11.70	83	11	SNP	0.988	T
PDCD2L	84306	genome.wustl.edu	37	19	34900093	34900093	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:34900093G>T	ENST00000246535.3	+	4	411	c.364G>T	c.(364-366)Gac>Tac	p.D122Y	RP11-618P17.4_ENST00000606020.1_Missense_Mutation_p.D117Y|PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	122					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCAGCTGAGGACTGGTGTGA	0.502																																																	0													123.0	116.0	118.0					19																	34900093		2203	4300	6503	SO:0001583	missense	0			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.364G>T	19.37:g.34900093G>T	ENSP00000246535:p.Asp122Tyr			Missense_Mutation	SNP	pfam_PDCD2_C	p.D122Y	ENST00000246535.3	37	c.364	CCDS12438.1	19	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563732	0.65651	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.81	3.65	0.41850	.	0.092482	0.64402	D	0.000001	T	0.68988	0.3061	M	0.69358	2.11	0.44309	D	0.997188	D	0.76494	0.999	D	0.68765	0.96	T	0.68409	-0.5416	9	0.66056	D	0.02	-7.0472	7.8031	0.29187	0.2171:0.0:0.7829:0.0	.	122	Q9BRP1	PDD2L_HUMAN	Y	122	.	ENSP00000246535:D122Y	D	+	1	0	PDCD2L	39591933	0.998000	0.40836	0.987000	0.45799	0.957000	0.61999	2.155000	0.42301	0.680000	0.31366	0.655000	0.94253	GAC	PDCD2L	-	NULL	ENSG00000126249		0.502	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2L	HGNC	protein_coding	OTTHUMT00000459251.3		0.00	31	0	G	NM_032346		34900093	+1			no_errors	ENST00000246535	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.912	T
PLCB4	5332	genome.wustl.edu	37	20	9389320	9389320	+	Silent	SNP	A	A	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:9389320A>T	ENST00000378493.1	+	19	1809	c.1794A>T	c.(1792-1794)tcA>tcT	p.S598S	PLCB4_ENST00000378501.2_Silent_p.S598S|PLCB4_ENST00000278655.4_Silent_p.S598S|PLCB4_ENST00000334005.3_Silent_p.S598S|PLCB4_ENST00000378473.3_Silent_p.S610S|PLCB4_ENST00000414679.2_Silent_p.S610S|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	598	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTAATGAATCAGTCGGTCTTG	0.388																																																	0													100.0	93.0	96.0					20																	9389320		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1794A>T	20.37:g.9389320A>T			B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S598	ENST00000378493.1	37	c.1794	CCDS13105.1	20																																																																																			PLCB4	-	pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000101333		0.388	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	-	0.00	78	0	A			9389320	+1	tier1	-	no_errors	ENST00000334005	ensembl	human	known	74_37	silent	25.86	86	30	SNP	0.118	T
PLCE1	51196	genome.wustl.edu	37	10	95892064	95892064	+	Missense_Mutation	SNP	G	G	T	rs140876132		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:95892064G>T	ENST00000371380.3	+	2	1575	c.1340G>T	c.(1339-1341)cGa>cTa	p.R447L	PLCE1_ENST00000260766.3_Missense_Mutation_p.R447L|PLCE1_ENST00000371385.3_Missense_Mutation_p.R139L|PLCE1_ENST00000371375.1_Missense_Mutation_p.R139L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	447					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAATGTGTCCGAGACACTGTA	0.502																																																	0													157.0	159.0	159.0					10																	95892064		2100	4232	6332	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1340G>T	10.37:g.95892064G>T	ENSP00000360431:p.Arg447Leu		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.R447L	ENST00000371380.3	37	c.1340	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	6.935	0.542267	0.13250	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.84	-4.13	0.03904	Ras guanine nucleotide exchange factor, domain (1);	0.583037	0.14665	N	0.305688	T	0.14614	0.0353	N	0.19112	0.55	0.18873	N	0.999983	B;B;B	0.23249	0.049;0.082;0.049	B;B;B	0.25987	0.044;0.065;0.044	T	0.14896	-1.0456	10	0.72032	D	0.01	.	2.9703	0.05920	0.4662:0.2043:0.2348:0.0947	.	447;139;447	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	L	447;447;139;139	ENSP00000260766:R447L;ENSP00000360431:R447L;ENSP00000360438:R139L;ENSP00000360426:R139L	ENSP00000260766:R447L	R	+	2	0	PLCE1	95882054	0.000000	0.05858	0.033000	0.17914	0.088000	0.18126	-0.820000	0.04457	-0.772000	0.04602	-0.251000	0.11542	CGA	PLCE1	-	superfamily_Ras_GEF_dom	ENSG00000138193		0.502	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3		0.00	52	0	G	NM_016341		95892064	+1			no_errors	ENST00000260766	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.006	T
POLR2A	5430	genome.wustl.edu	37	17	7415274	7415274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:7415274C>T	ENST00000322644.6	+	25	4645	c.4246C>T	c.(4246-4248)Cga>Tga	p.R1416*		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1416					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGCCATCACCCGACACGGAGT	0.512																																																	0													92.0	77.0	82.0					17																	7415274		2203	4300	6503	SO:0001587	stop_gained	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4246C>T	17.37:g.7415274C>T	ENSP00000314949:p.Arg1416*		A6NN93|B9EH88|Q6NX41	Nonsense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.R1416*	ENST00000322644.6	37	c.4246	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	C	46	12.676567	0.99687	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	.	.	.	5.06	2.86	0.33363	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7442	13.7729	0.63036	0.2875:0.7125:0.0:0.0	.	.	.	.	X	1372;315;1416	.	ENSP00000314949:R1416X	R	+	1	2	SLC35G6	7355998	0.993000	0.37304	0.995000	0.50966	0.994000	0.84299	2.931000	0.48932	1.310000	0.45006	0.449000	0.29647	CGA	POLR2A	-	pfam_RNA_pol_Rpb1_5	ENSG00000181222		0.512	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	-	0.00	92	0	C	NM_000937		7415274	+1	tier1	-	no_errors	ENST00000322644	ensembl	human	known	74_37	nonsense	19.72	57	14	SNP	0.992	T
POLR3B	55703	genome.wustl.edu	37	12	106831541	106831541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:106831541G>T	ENST00000228347.4	+	18	2161	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.E589*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	647			Missing (in HLD8). {ECO:0000269|PubMed:22036171}.		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)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TGCACTGTACGAACACACAAT	0.328																																																	0													78.0	76.0	77.0					12																	106831541		2202	4300	6502	SO:0001587	stop_gained	0			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1939G>T	12.37:g.106831541G>T	ENSP00000228347:p.Glu647*		A8K6H0|B3KV73|F5H1E6|Q9NW59	Nonsense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.E647*	ENST00000228347.4	37	c.1939	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	G	41	8.810072	0.98962	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-21.6053	20.1162	0.97934	0.0:0.0:1.0:0.0	.	.	.	.	X	647;647;589	.	ENSP00000228347:E647X	E	+	1	0	POLR3B	105355671	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.252000	0.95491	2.756000	0.94617	0.655000	0.94253	GAA	POLR3B	-	pfam_RNA_pol_Rpb2_5	ENSG00000013503		0.328	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1		0.00	26	0	G	NM_018082		106831541	+1			no_errors	ENST00000228347	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	1.000	T
PPIL4	85313	genome.wustl.edu	37	6	149847891	149847891	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:149847891C>A	ENST00000253329.2	-	8	732	c.700G>T	c.(700-702)Gat>Tat	p.D234Y		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	234					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GGTTTAATATCTGCATCAGGT	0.358																																																	0													94.0	87.0	89.0					6																	149847891		2203	4299	6502	SO:0001583	missense	0				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.700G>T	6.37:g.149847891C>A	ENSP00000253329:p.Asp234Tyr		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.D234Y	ENST00000253329.2	37	c.700	CCDS34550.1	6	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680681	0.88542	.	.	ENSG00000131013	ENST00000253329	T	0.74632	-0.86	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);	0.085191	0.85682	D	0.000000	D	0.87589	0.6215	M	0.90309	3.105	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.64506	0.926;0.915	D	0.88983	0.3409	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	234;234	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	Y	234	ENSP00000253329:D234Y	ENSP00000253329:D234Y	D	-	1	0	PPIL4	149889584	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.776000	0.68924	2.785000	0.95823	0.655000	0.94253	GAT	PPIL4	-	NULL	ENSG00000131013		0.358	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL4	HGNC	protein_coding	OTTHUMT00000042642.1		0.00	30	0	C			149847891	-1			no_errors	ENST00000253329	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	A
PPP1R12B	4660	genome.wustl.edu	37	1	202407190	202407190	+	Intron	DEL	T	T	-			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:202407190delT	ENST00000608999.1	+	10	1611				RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000480184.1_Frame_Shift_Del_p.V499fs	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCAAGGCAGTTTTTTTTTTC	0.388																																																	0									,,	92,128,3982		2,0,88,2,124,1885	28.0	30.0	30.0		,,	1.9	0.0	1		31	174,230,7838		0,1,173,13,203,3731	no	intron,utr-3,codingComplex	PPP1R12B	NM_002481.3,NM_001167858.1,NM_001167857.1	,,	2,1,261,15,327,5616	A1A1,A1A2,A1R,A2A2,A2R,RR		4.9017,5.2356,5.0145	,,	,,	202407190	266,358,11820	2202	4300	6502	SO:0001627	intron_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.1458+38T>-	1.37:g.202407190delT			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	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.F502fs	ENST00000608999.1	37	c.1496	CCDS1426.1	1																																																																																			PPP1R12B	-	NULL	ENSG00000077157		0.388	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3		0.00	23	0	T	NM_032105		202407190	+1	tier1		no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_del	28.57	10	4	DEL	0.041	-
PTPRT	11122	genome.wustl.edu	37	20	41385155	41385155	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:41385155A>G	ENST00000373187.1	-	6	805	c.806T>C	c.(805-807)aTc>aCc	p.I269T	PTPRT_ENST00000373201.1_Missense_Mutation_p.I269T|PTPRT_ENST00000373193.3_Missense_Mutation_p.I269T|PTPRT_ENST00000373198.4_Missense_Mutation_p.I269T|PTPRT_ENST00000373190.1_Missense_Mutation_p.I269T|PTPRT_ENST00000373184.1_Missense_Mutation_p.I269T|PTPRT_ENST00000356100.2_Missense_Mutation_p.I269T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	269	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCAGAGCGGATCACACAGCG	0.602																																																	0													62.0	63.0	63.0					20																	41385155		2148	4251	6399	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.806T>C	20.37:g.41385155A>G	ENSP00000362283:p.Ile269Thr		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.I269T	ENST00000373187.1	37	c.806	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	A	8.691	0.907356	0.17833	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198663	0.42548	D	0.000691	T	0.20740	0.0499	N	0.05280	-0.08	0.49130	D	0.999755	P;P	0.44816	0.844;0.759	P;B	0.48114	0.567;0.279	T	0.06534	-1.0821	10	0.06757	T	0.87	.	15.7133	0.77649	1.0:0.0:0.0:0.0	.	269;269	O14522-1;O14522	.;PTPRT_HUMAN	T	269	ENSP00000362286:I269T;ENSP00000362283:I269T;ENSP00000362289:I269T;ENSP00000348408:I269T;ENSP00000362294:I269T;ENSP00000362280:I269T;ENSP00000362297:I269T	ENSP00000348408:I269T	I	-	2	0	PTPRT	40818569	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.962000	0.93254	2.196000	0.70406	0.533000	0.62120	ATC	PTPRT	-	pfscan_Ig-like_dom	ENSG00000196090		0.602	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0.00	64	0	A			41385155	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	9.09	70	7	SNP	1.000	G
R3HDM1	23518	genome.wustl.edu	37	2	136393551	136393551	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:136393551G>C	ENST00000264160.4	+	10	1160	c.790G>C	c.(790-792)Gac>Cac	p.D264H	R3HDM1_ENST00000409606.1_Missense_Mutation_p.D264H|R3HDM1_ENST00000410054.1_Missense_Mutation_p.D208H|R3HDM1_ENST00000409478.1_Missense_Mutation_p.D220H|R3HDM1_ENST00000329971.3_Missense_Mutation_p.D220H	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	264	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTCTAGCTTTGACAAAGATGA	0.313																																																	0													91.0	103.0	99.0					2																	136393551		2203	4299	6502	SO:0001583	missense	0			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.790G>C	2.37:g.136393551G>C	ENSP00000264160:p.Asp264His		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.D264H	ENST00000264160.4	37	c.790	CCDS2177.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.627625|4.627625	0.87560|0.87560	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000456040	T;T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93;0.93|.	5.31|5.31	5.31|5.31	0.75309|0.75309	SUZ domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78052|0.78052	0.4223|0.4223	M|M	0.77103|0.77103	2.36|2.36	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.944;0.999;0.999;0.999|.	T|T	0.77734|0.77734	-0.2477|-0.2477	10|5	0.62326|.	D|.	0.03|.	-11.5931|-11.5931	19.3411|19.3411	0.94342|0.94342	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220;264;208;264|.	G5E9G8;E9PBB4;E9PG42;Q15032|.	.;.;.;R3HD1_HUMAN|.	H|F	220;220;264;220;208;264|246	ENSP00000386457:D220H;ENSP00000264160:D264H;ENSP00000331396:D220H;ENSP00000386877:D208H;ENSP00000387010:D264H|.	ENSP00000264160:D264H|.	D|L	+|+	1|3	0|2	R3HDM1|R3HDM1	136110021|136110021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.813000|9.813000	0.99286|0.99286	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	GAC|TTG	R3HDM1	-	NULL	ENSG00000048991		0.313	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	HGNC	protein_coding	OTTHUMT00000254659.1	-	0.00	49	0	G	NM_015361		136393551	+1	tier1	-	no_errors	ENST00000264160	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	C
RNF17	56163	genome.wustl.edu	37	13	25442743	25442743	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr13:25442743G>C	ENST00000255324.5	+	31	4219	c.4167G>C	c.(4165-4167)ttG>ttC	p.L1389F	RNF17_ENST00000381921.1_Missense_Mutation_p.L1347F|RNF17_ENST00000339524.3_Missense_Mutation_p.L399F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1389					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTAGGAATTGCTTTCGGCTG	0.358																																																	0													147.0	141.0	143.0					13																	25442743		2203	4300	6503	SO:0001583	missense	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4167G>C	13.37:g.25442743G>C	ENSP00000255324:p.Leu1389Phe		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.L1389F	ENST00000255324.5	37	c.4167	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923476	0.52653	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.26810	3.3;3.28;2.53;1.71	5.93	2.64	0.31445	.	0.304528	0.23666	N	0.045776	T	0.37073	0.0990	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.74674	0.942;0.973;0.984;0.973	T	0.19321	-1.0309	10	0.27785	T	0.31	-3.9366	3.9762	0.09475	0.3629:0.0:0.4795:0.1576	.	1385;399;1383;1389	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	F	1389;1347;713;399	ENSP00000255324:L1389F;ENSP00000371346:L1347F;ENSP00000388892:L713F;ENSP00000344776:L399F	ENSP00000255324:L1389F	L	+	3	2	RNF17	24340743	1.000000	0.71417	0.999000	0.59377	0.716000	0.41182	0.440000	0.21592	0.784000	0.33661	0.655000	0.94253	TTG	RNF17	-	NULL	ENSG00000132972		0.358	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0.00	77	0	G	NM_031994		25442743	+1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	missense	19.74	61	15	SNP	0.999	C
RNPC3	55599	genome.wustl.edu	37	1	104076467	104076467	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:104076467delA	ENST00000533099.1	+	4	583	c.347delA	c.(346-348)gaafs	p.E116fs	RNPC3_ENST00000524631.1_Frame_Shift_Del_p.E116fs|RNPC3_ENST00000423855.2_Frame_Shift_Del_p.E116fs			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	116	Necessary for interaction with PDCD7.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		TCAGGCTCTGAAAAAAAAAAA	0.318																																																	0										85,435,1262		6,1,72,18,398,396	50.0	39.0	43.0			4.6	0.6	1		49	197,914,2651		20,3,154,16,879,809	no	codingComplex	RNPC3	NM_017619.3		26,4,226,34,1277,1205	A1A1,A1A2,A1R,A2A2,A2R,RR		29.5322,29.1807,29.4192			104076467	282,1349,3913	692	1590	2282	SO:0001589	frameshift_variant	0			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.347delA	1.37:g.104076467delA	ENSP00000432886:p.Glu116fs		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K119fs	ENST00000533099.1	37	c.347	CCDS781.1	1																																																																																			RNPC3	-	NULL	ENSG00000185946		0.318	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1		0.00	18	0	A	NM_017619		104076467	+1	tier1		no_errors	ENST00000423855	ensembl	human	known	74_37	frame_shift_del	19.23	21	5	DEL	0.784	-
RNF187	149603	genome.wustl.edu	37	1	228680819	228680819	+	Silent	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:228680819G>T	ENST00000305943.7	+	3	977	c.222G>T	c.(220-222)gtG>gtT	p.V74V	RNF187_ENST00000482739.2_3'UTR	NM_001010858.2	NP_001010858.2	Q5TA31	RN187_HUMAN	ring finger protein 187	183					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			stomach(1)	1						CCTTCTTTGTGGAGGAGGAGG	0.602																																																	0													51.0	57.0	55.0					1																	228680819		692	1591	2283	SO:0001819	synonymous_variant	0			BC008022		1q42.13	2010-07-14		2005-08-09	ENSG00000168159	ENSG00000168159		"""RING-type (C3HC4) zinc fingers"""	27146	protein-coding gene	gene with protein product		613754				12477932	Standard	NM_001010858		Approved		uc001htb.3	Q5TA31	OTTHUMG00000040043	ENST00000305943.7:c.222G>T	1.37:g.228680819G>T			A6NL57|Q6P2J7|Q6PJR0	Silent	SNP	NULL	p.V74	ENST00000305943.7	37	c.222		1																																																																																			RNF187	-	NULL	ENSG00000168159		0.602	RNF187-001	KNOWN	basic|appris_principal	protein_coding	RNF187	HGNC	protein_coding	OTTHUMT00000096590.2		0.00	55	0	G	NM_001010858		228680819	+1			no_errors	ENST00000305943	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.007	T
RPL26L1	51121	genome.wustl.edu	37	5	172396449	172396449	+	Missense_Mutation	SNP	C	C	T	rs371090798		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:172396449C>T	ENST00000521476.1	+	4	467	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	RPL26L1_ENST00000265100.2_Missense_Mutation_p.R115W|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R115W|RPL26L1_ENST00000519974.1_Missense_Mutation_p.R115W			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	115					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGACAAGGATCGGAAAAAAAT	0.388																																																	0													104.0	111.0	109.0					5																	172396449		2203	4300	6503	SO:0001583	missense	0			AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.343C>T	5.37:g.172396449C>T	ENSP00000428223:p.Arg115Trp		B3KY82|D3DQM0	Missense_Mutation	SNP	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc	p.R115W	ENST00000521476.1	37	c.343	CCDS4382.1	5	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827649	0.71143	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519156	.	.	.	4.49	-1.15	0.09709	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.216666	0.48767	D	0.000177	T	0.67363	0.2885	M	0.75884	2.315	0.53688	D	0.999978	D	0.64830	0.994	P	0.60068	0.868	T	0.68345	-0.5433	9	0.87932	D	0	.	10.7335	0.46111	0.4661:0.4172:0.1166:0.0	.	115	Q9UNX3	RL26L_HUMAN	W	115	.	ENSP00000265100:R115W	R	+	1	2	RPL26L1	172329055	0.986000	0.35501	0.241000	0.24154	0.946000	0.59487	1.438000	0.35002	-0.351000	0.08249	-0.238000	0.12139	CGG	RPL26L1	-	superfamily_Translation_prot_SH3-like,tigrfam_Ribosomal_L26/L24P_euk/arc	ENSG00000037241		0.388	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL26L1	HGNC	protein_coding	OTTHUMT00000372559.1	-	0.00	87	0	C	NM_016093		172396449	+1	tier1	-	no_errors	ENST00000265100	ensembl	human	known	74_37	missense	11.90	73	10	SNP	0.996	T
RTCB	51493	genome.wustl.edu	37	22	32788229	32788229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr22:32788229C>A	ENST00000216038.5	-	11	1506	c.1408G>T	c.(1408-1410)Gag>Tag	p.E470*	RTCB_ENST00000451746.2_3'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.E470Q(1)									TCACTTACCTCTTCCATAACC	0.368																																																	1	Substitution - Missense(1)	breast(1)											93.0	91.0	91.0					22																	32788229		2203	4300	6503	SO:0001587	stop_gained	0			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.1408G>T	22.37:g.32788229C>A	ENSP00000216038:p.Glu470*			Nonsense_Mutation	SNP	pfam_RtcB,superfamily_RtcB	p.E470*	ENST00000216038.5	37	c.1408	CCDS13905.1	22	.	.	.	.	.	.	.	.	.	.	C	39	7.556419	0.98355	.	.	ENSG00000100220	ENST00000216038	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.9717	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	470	.	ENSP00000216038:E470X	E	-	1	0	C22orf28	31118229	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.805000	0.86005	2.768000	0.95171	0.655000	0.94253	GAG	RTCB	-	pfam_RtcB,superfamily_RtcB	ENSG00000100220		0.368	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTCB	HGNC	protein_coding	OTTHUMT00000075188.3		0.00	45	0	C	NM_014306		32788229	-1			no_errors	ENST00000216038	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	1.000	A
RUNX2	860	genome.wustl.edu	37	6	45399659	45399659	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:45399659T>A	ENST00000371438.1	+	3	841	c.483T>A	c.(481-483)gaT>gaA	p.D161E	RUNX2_ENST00000541979.1_Missense_Mutation_p.D229E|RUNX2_ENST00000465038.2_Missense_Mutation_p.D161E|RUNX2_ENST00000359524.5_Missense_Mutation_p.D147E|RUNX2_ENST00000371432.3_Missense_Mutation_p.D147E|RUNX2_ENST00000576263.1_Missense_Mutation_p.D161E|RUNX2_ENST00000371436.6_Missense_Mutation_p.D161E|RUNX2_ENST00000352853.5_Missense_Mutation_p.D229E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	161	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGGTAACGATGAAAATTATT	0.483																																																	0													166.0	156.0	160.0					6																	45399659		2203	4300	6503	SO:0001583	missense	0			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.483T>A	6.37:g.45399659T>A	ENSP00000360493:p.Asp161Glu		O14614|O14615|O95181	Missense_Mutation	SNP	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	p.D229E	ENST00000371438.1	37	c.687	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831033	0.50845	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45	4.96	2.52	0.30459	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.73962	2.25	0.80722	D	1	P;P;P	0.47302	0.574;0.893;0.784	P;P;P	0.53689	0.618;0.732;0.711	D	0.99123	1.0850	10	0.87932	D	0	-6.0812	9.2552	0.37579	0.0:0.2174:0.0:0.7826	.	229;161;147	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	161;229;229;161;161;147;147	ENSP00000420707:D161E;ENSP00000319087:D229E;ENSP00000446290:D229E;ENSP00000360493:D161E;ENSP00000360491:D161E;ENSP00000352514:D147E;ENSP00000360486:D147E	ENSP00000319087:D229E	D	+	3	2	RUNX2	45507637	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.161000	0.31773	0.316000	0.23135	-0.297000	0.09499	GAT	RUNX2	-	pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	ENSG00000124813		0.483	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	-	0.00	104	0	T	NM_004348		45399659	+1	tier1	-	no_errors	ENST00000352853	ensembl	human	known	74_37	missense	10.91	98	12	SNP	1.000	A
SCN2A	6326	genome.wustl.edu	37	2	166167085	166167085	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:166167085A>T	ENST00000375437.2	+	7	1240	c.950A>T	c.(949-951)gAt>gTt	p.D317V	SCN2A_ENST00000375427.2_Missense_Mutation_p.D317V|SCN2A_ENST00000283256.6_Missense_Mutation_p.D317V|SCN2A_ENST00000357398.3_Missense_Mutation_p.D317V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	317					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)	TTTAACTGGGATGAATATATT	0.259																																																	0													57.0	58.0	58.0					2																	166167085		2198	4295	6493	SO:0001583	missense	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.950A>T	2.37:g.166167085A>T	ENSP00000364586:p.Asp317Val		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D317V	ENST00000375437.2	37	c.950	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	A	9.447	1.089591	0.20390	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96522	-4.04;-3.97;-3.97;-3.97;-3.97	5.29	5.29	0.74685	Ion transport (1);	.	.	.	.	D	0.92502	0.7619	N	0.25957	0.775	0.50171	D	0.999852	B;B	0.12630	0.0;0.006	B;B	0.18561	0.001;0.022	D	0.89619	0.3847	9	0.72032	D	0.01	.	12.0998	0.53776	0.8566:0.1434:0.0:0.0	.	317;317	Q99250-2;Q99250	.;SCN2A_HUMAN	V	317	ENSP00000406454:D317V;ENSP00000364586:D317V;ENSP00000349973:D317V;ENSP00000283256:D317V;ENSP00000364576:D317V	ENSP00000283256:D317V	D	+	2	0	SCN2A	165875331	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.461000	0.45040	2.128000	0.65567	0.460000	0.39030	GAT	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.259	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2		0.00	57	0	A	NM_021007		166167085	+1			no_errors	ENST00000283256	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T
SCG2	7857	genome.wustl.edu	37	2	224463860	224463860	+	Silent	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:224463860G>C	ENST00000305409.2	-	2	373	c.141C>G	c.(139-141)gtC>gtG	p.V47V		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAAACTTTTGGACATTTTCCA	0.438																																																	0													98.0	104.0	102.0					2																	224463860		2201	4300	6501	SO:0001819	synonymous_variant	0			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.141C>G	2.37:g.224463860G>C			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	pfam_Granin	p.V47	ENST00000305409.2	37	c.141	CCDS2457.1	2																																																																																			SCG2	-	pfam_Granin	ENSG00000171951		0.438	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	-	0.00	37	0	G	NM_003469		224463860	-1	tier1	-	no_errors	ENST00000305409	ensembl	human	known	74_37	silent	15.79	32	6	SNP	0.381	C
SCN5A	6331	genome.wustl.edu	37	3	38603969	38603969	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:38603969C>G	ENST00000333535.4	-	22	4049	c.3900G>C	c.(3898-3900)aaG>aaC	p.K1300N	SCN5A_ENST00000449557.2_Missense_Mutation_p.K1246N|SCN5A_ENST00000413689.1_Missense_Mutation_p.K1300N|SCN5A_ENST00000451551.2_Missense_Mutation_p.K1246N|SCN5A_ENST00000455624.2_Missense_Mutation_p.K1299N|SCN5A_ENST00000423572.2_Missense_Mutation_p.K1299N|SCN5A_ENST00000443581.1_Missense_Mutation_p.K1299N|SCN5A_ENST00000414099.2_Missense_Mutation_p.K1300N|SCN5A_ENST00000425664.1_Missense_Mutation_p.K1300N|SCN5A_ENST00000450102.2_Missense_Mutation_p.K1246N			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1300					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)	TCCGCAGTGACTTGATGGGGC	0.607																																																	0													42.0	46.0	45.0					3																	38603969		2066	4219	6285	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3900G>C	3.37:g.38603969C>G	ENSP00000328968:p.Lys1300Asn		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.K1300N	ENST00000333535.4	37	c.3900	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865463	0.32977	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	4.04	2.24	0.28232	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98353	0.9453	M	0.93898	3.47	0.43936	D	0.996593	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.996;0.997;1.0;0.999;0.991	D;D;D;D;D;D;P	0.87578	0.996;0.998;0.977;0.987;0.996;0.991;0.892	D	0.97079	0.9783	10	0.87932	D	0	.	5.7786	0.18294	0.0:0.5179:0.0:0.4821	.	1246;1299;1300;1300;1300;1299;1300	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	N	1300;1299;1300;1246;1299;1300;1300;1299;1246;1246	ENSP00000398962:K1300N;ENSP00000398266:K1299N;ENSP00000410257:K1300N;ENSP00000388797:K1246N;ENSP00000397915:K1299N;ENSP00000416634:K1300N;ENSP00000328968:K1300N;ENSP00000399524:K1299N;ENSP00000403355:K1246N;ENSP00000413996:K1246N	ENSP00000328968:K1300N	K	-	3	2	SCN5A	38578973	0.998000	0.40836	0.993000	0.49108	0.159000	0.22180	0.481000	0.22260	0.384000	0.24942	-0.150000	0.13652	AAG	SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.607	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0.00	62	0	C	NM_198056		38603969	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	12.07	51	7	SNP	1.000	G
SERINC3	10955	genome.wustl.edu	37	20	43142627	43142627	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:43142627T>G	ENST00000342374.4	-	2	251	c.94A>C	c.(94-96)Agt>Cgt	p.S32R	SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.S32R|SERINC3_ENST00000468234.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	32					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GAATTCTTACTGTTAGGACAG	0.473																																																	0													189.0	160.0	170.0					20																	43142627		2203	4300	6503	SO:0001583	missense	0			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.94A>C	20.37:g.43142627T>G	ENSP00000340243:p.Ser32Arg		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	pfam_TMS_TDE	p.S32R	ENST00000342374.4	37	c.94	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949408	0.53186	.	.	ENSG00000132824	ENST00000255175;ENST00000342374	T;T	0.14516	2.5;2.5	4.57	3.44	0.39384	.	0.677326	0.15465	N	0.260936	T	0.26484	0.0647	M	0.80982	2.52	0.18873	N	0.999982	P;B	0.40211	0.707;0.434	P;B	0.49597	0.616;0.392	T	0.07158	-1.0787	10	0.37606	T	0.19	.	7.0648	0.25145	0.1327:0.0757:0.0:0.7916	.	32;32	Q53GK8;Q13530	.;SERC3_HUMAN	R	32	ENSP00000255175:S32R;ENSP00000340243:S32R	ENSP00000255175:S32R	S	-	1	0	SERINC3	42576041	0.000000	0.05858	0.347000	0.25668	0.811000	0.45836	0.271000	0.18626	0.823000	0.34589	-0.490000	0.04691	AGT	SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.473	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	-	0.00	58	0	T	NM_006811		43142627	-1	tier1	-	no_errors	ENST00000255175	ensembl	human	known	74_37	missense	8.11	68	6	SNP	0.002	G
SLC1A3	6507	genome.wustl.edu	37	5	36686224	36686224	+	Silent	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:36686224G>T	ENST00000265113.4	+	10	1958	c.1482G>T	c.(1480-1482)gtG>gtT	p.V494V	SLC1A3_ENST00000381918.3_Silent_p.V449V|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	494					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGGATTGTGGAGCACTTGT	0.517																																																	0													120.0	120.0	120.0					5																	36686224		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1482G>T	5.37:g.36686224G>T			B2R5T3|Q4JCQ8	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V494	ENST00000265113.4	37	c.1482	CCDS3919.1	5																																																																																			SLC1A3	-	pfam_Na-dicarboxylate_symporter	ENSG00000079215		0.517	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A3	HGNC	protein_coding	OTTHUMT00000207579.2	-	0.00	46	0	G	NM_004172		36686224	+1	tier1	-	no_errors	ENST00000265113	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.001	T
SLC44A4	80736	genome.wustl.edu	37	6	31832357	31832357	+	Intron	DEL	A	A	-			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:31832357delA	ENST00000229729.6	-	20	2032				NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000544672.1_Intron|SLC44A4_ENST00000375562.4_Intron	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4						acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCAAATCTCCAAAAAAAAAAA	0.488																																																	0																																										SO:0001627	intron_variant	0			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.2011+71T>-	6.37:g.31832357delA			A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	RNA	DEL	-	NULL	ENST00000229729.6	37	NULL	CCDS4724.2	6																																																																																			SLC44A4	-	-	ENSG00000204385		0.488	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3		0.00	14	0	A			31832357	-1	tier1		no_errors	ENST00000487680	ensembl	human	putative	74_37	rna	14.29	30	5	DEL	0.055	-
SLC4A11	83959	genome.wustl.edu	37	20	3208438	3208438	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:3208438G>A	ENST00000380056.3	-	19	2718	c.2671C>T	c.(2671-2673)Cct>Tct	p.P891S	SLC4A11_ENST00000539553.2_Missense_Mutation_p.P875S|SLC4A11_ENST00000380059.3_Missense_Mutation_p.P918S|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	891	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCCAGTCAAGGCCTGTGCTCA	0.617																																					NSCLC(190;922 2139 10266 10292 38692)												0													146.0	109.0	121.0					20																	3208438		2203	4300	6503	SO:0001583	missense	0			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2671C>T	20.37:g.3208438G>A	ENSP00000369396:p.Pro891Ser		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.P918S	ENST00000380056.3	37	c.2752	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528660	0.64860	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	D;D;T	0.81579	-1.51;-1.5;-1.47	3.89	-0.464	0.12160	.	1.202030	0.06478	N	0.732268	T	0.63046	0.2478	N	0.14661	0.345	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.08055	0.003;0.001;0.001	T	0.52170	-0.8611	10	0.87932	D	0	.	2.7927	0.05392	0.3002:0.0:0.3612:0.3387	.	875;918;891	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	S	918;891;875	ENSP00000369399:P918S;ENSP00000369396:P891S;ENSP00000441370:P875S	ENSP00000369396:P891S	P	-	1	0	SLC4A11	3156438	0.262000	0.24073	0.263000	0.24496	0.571000	0.35966	0.777000	0.26718	-0.039000	0.13602	0.650000	0.86243	CCT	SLC4A11	-	NULL	ENSG00000088836		0.617	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	-	0.00	48	0	G			3208438	-1	tier1	-	no_errors	ENST00000380059	ensembl	human	known	74_37	missense	25.97	57	20	SNP	0.032	A
SLC6A4	6532	genome.wustl.edu	37	17	28548752	28548752	+	Silent	SNP	A	A	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:28548752A>G	ENST00000401766.2	-	2	737	c.225T>C	c.(223-225)caT>caC	p.H75H	SLC6A4_ENST00000261707.3_Silent_p.H75H			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	75					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GTTCCCCTTGATGAAGCTCAG	0.547																																																	0													212.0	187.0	195.0					17																	28548752		2203	4300	6503	SO:0001819	synonymous_variant	0			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.225T>C	17.37:g.28548752A>G			Q5EE02	Silent	SNP	pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N	p.H75	ENST00000401766.2	37	c.225	CCDS11256.1	17																																																																																			SLC6A4	-	NULL	ENSG00000108576		0.547	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	HGNC	protein_coding	OTTHUMT00000256115.3	-	0.00	123	0	A	NM_001045		28548752	-1	tier1	-	no_errors	ENST00000261707	ensembl	human	known	74_37	silent	27.15	110	41	SNP	0.119	G
SLITRK1	114798	genome.wustl.edu	37	13	84454666	84454666	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr13:84454666G>T	ENST00000377084.2	-	1	1862	c.977C>A	c.(976-978)gCg>gAg	p.A326E		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	326					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.A326V(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCTACCCGTCGCTATCGCTGC	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											77.0	76.0	76.0					13																	84454666		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.977C>A	13.37:g.84454666G>T	ENSP00000366288:p.Ala326Glu		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A326E	ENST00000377084.2	37	c.977	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	8.898	0.955563	0.18507	.	.	ENSG00000178235	ENST00000377084	T	0.58506	0.33	4.85	4.0	0.46444	.	0.191486	0.47455	D	0.000232	T	0.40932	0.1137	N	0.20986	0.625	0.36169	D	0.848637	B	0.12630	0.006	B	0.20767	0.031	T	0.38929	-0.9638	10	0.14252	T	0.57	-4.5496	12.2747	0.54728	0.0:0.1712:0.8288:0.0	.	326	Q96PX8	SLIK1_HUMAN	E	326	ENSP00000366288:A326E	ENSP00000366288:A326E	A	-	2	0	SLITRK1	83352667	1.000000	0.71417	0.864000	0.33941	0.982000	0.71751	4.888000	0.63164	1.258000	0.44101	0.555000	0.69702	GCG	SLITRK1	-	NULL	ENSG00000178235		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1		0.00	33	0	G	NM_052910		84454666	-1			no_errors	ENST00000377084	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.842	T
SNTA1	6640	genome.wustl.edu	37	20	32005636	32005636	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:32005636C>T	ENST00000217381.2	-	3	861	c.590G>A	c.(589-591)cGg>cAg	p.R197Q		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	197	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GGAAGGCTGCCGCTGAAGGGG	0.567																																																	0													74.0	76.0	75.0					20																	32005636		2203	4300	6503	SO:0001583	missense	0			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.590G>A	20.37:g.32005636C>T	ENSP00000217381:p.Arg197Gln		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.R197Q	ENST00000217381.2	37	c.590	CCDS13220.1	20	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061348	0.36373	.	.	ENSG00000101400	ENST00000217381	T	0.42513	0.97	5.71	3.78	0.43462	Pleckstrin homology domain (2);	0.172773	0.27927	N	0.017298	T	0.23330	0.0564	N	0.22421	0.69	0.29815	N	0.831355	B;B	0.15141	0.012;0.004	B;B	0.06405	0.002;0.0	T	0.12553	-1.0543	10	0.16896	T	0.51	-9.1681	5.9321	0.19144	0.0:0.6486:0.0:0.3514	.	197;197	B4DX40;Q13424	.;SNTA1_HUMAN	Q	197	ENSP00000217381:R197Q	ENSP00000217381:R197Q	R	-	2	0	SNTA1	31469297	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	1.207000	0.32333	1.415000	0.47037	0.655000	0.94253	CGG	SNTA1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000101400		0.567	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	HGNC	protein_coding	OTTHUMT00000078704.2	-	0.00	33	0	C	NM_003098		32005636	-1	tier1	-	no_errors	ENST00000217381	ensembl	human	known	74_37	missense	59.65	23	34	SNP	1.000	T
SPDYE3	441272	genome.wustl.edu	37	7	99917283	99917283	+	Missense_Mutation	SNP	G	G	A	rs577036288		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:99917283G>A	ENST00000332397.6	+	9	1626	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	SPDYE3_ENST00000437326.2_Missense_Mutation_p.R104H	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	481										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						ATACCCTTGCGCCCTAAGCAT	0.537													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18682	0.0		0.0	False		,,,				2504	0.0																0													131.0	138.0	136.0					7																	99917283		2203	4300	6503	SO:0001583	missense	0			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1442G>A	7.37:g.99917283G>A	ENSP00000329565:p.Arg481His		Q495Y9|Q6PHC4	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.R481H	ENST00000332397.6	37	c.1442	CCDS47658.2	7	.	.	.	.	.	.	.	.	.	.	T	1.172	-0.640657	0.03557	.	.	ENSG00000214300	ENST00000332397;ENST00000437326	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.17874	0.0429	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.18587	-1.0332	5	0.45353	T	0.12	.	.	.	.	.	.	.	.	H	481;104	.	ENSP00000329565:R481H	R	+	2	0	SPDYE3	99755219	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.964000	0.03833	-1.216000	0.02607	-1.241000	0.01538	CGC	SPDYE3	-	pfam_Cell_cycle_regulatory_Spy1	ENSG00000214300		0.537	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	HGNC	protein_coding	OTTHUMT00000340224.2	-	0.00	263	0	G	NM_001004351		99917283	+1	tier1	-	no_errors	ENST00000332397	ensembl	human	known	74_37	missense	35.66	173	97	SNP	0.000	A
SPTAN1	6709	genome.wustl.edu	37	9	131337616	131337616	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:131337616C>G	ENST00000372731.4	+	5	753	c.643C>G	c.(643-645)Ctc>Gtc	p.L215V	SPTAN1_ENST00000372739.3_Missense_Mutation_p.L215V|SPTAN1_ENST00000358161.5_Missense_Mutation_p.L215V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	215					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCTGCCAAACTCATACAGGT	0.343																																					NSCLC(120;833 1744 2558 35612 37579)												0													73.0	77.0	76.0					9																	131337616		2203	4300	6503	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.643C>G	9.37:g.131337616C>G	ENSP00000361816:p.Leu215Val		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.L215V	ENST00000372731.4	37	c.643	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501445	0.85176	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.63255	-0.03;-0.03;-0.03	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84311	0.5444	M	0.91612	3.225	0.80722	D	1	B;D;D;P;D	0.89917	0.21;0.992;1.0;0.862;0.999	B;D;D;P;D	0.91635	0.246;0.987;0.999;0.802;0.987	D	0.86888	0.2046	10	0.72032	D	0.01	.	19.0874	0.93209	0.0:1.0:0.0:0.0	.	215;215;215;215;215	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	V	215	ENSP00000350882:L215V;ENSP00000361816:L215V;ENSP00000361824:L215V	ENSP00000350882:L215V	L	+	1	0	SPTAN1	130377437	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.202000	0.77856	2.762000	0.94881	0.467000	0.42956	CTC	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.343	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0.00	56	0	C	NM_003127		131337616	+1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	missense	11.94	59	8	SNP	1.000	G
SPTB	6710	genome.wustl.edu	37	14	65230544	65230544	+	IGR	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr14:65230544G>T	ENST00000389721.5	-	0	6705				SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000389722.3_Intron|SPTB_ENST00000556626.1_Intron	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GAGGGAAGGCGGTGGGACCGT	0.547																																																	0													359.0	305.0	322.0					14																	65230544		876	1991	2867	SO:0001628	intergenic_variant	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277			14.37:g.65230544G>T			Q15510|Q15519	RNA	SNP	-	NULL	ENST00000389721.5	37	NULL	CCDS32100.1	14																																																																																			SPTB	-	-	ENSG00000070182		0.547	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	-	0.00	118	0	G			65230544	-1	tier1	-	no_errors	ENST00000342835	ensembl	human	known	74_37	rna	8.97	71	7	SNP	0.000	T
ST6GAL1	6480	genome.wustl.edu	37	3	186769080	186769080	+	Silent	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:186769080C>A	ENST00000169298.3	+	5	1325	c.651C>A	c.(649-651)gcC>gcA	p.A217A	ST6GAL1_ENST00000448044.1_Silent_p.A217A|ST6GAL1_ENST00000457772.2_5'UTR	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	217					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CACCCACAGCCAACTTCCAAC	0.438																																																	0													141.0	124.0	130.0					3																	186769080		2203	4300	6503	SO:0001819	synonymous_variant	0			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.651C>A	3.37:g.186769080C>A			A8KA14|B2R513|D3DNV3	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.A217	ENST00000169298.3	37	c.651	CCDS3285.1	3																																																																																			ST6GAL1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000073849		0.438	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	HGNC	protein_coding	OTTHUMT00000344399.1	-	0.00	83	0	C	NM_173216		186769080	+1	tier1	-	no_errors	ENST00000169298	ensembl	human	known	74_37	silent	7.69	72	6	SNP	0.423	A
SYNE1	23345	genome.wustl.edu	37	6	152472809	152472809	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:152472809C>T	ENST00000367255.5	-	135	24930	c.24329G>A	c.(24328-24330)cGt>cAt	p.R8110H	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2634H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7722H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8039H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R265H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8110H|SYNE1_ENST00000539504.1_Missense_Mutation_p.R265H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8039H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8110					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)		AAACTCCTCACGCTGGCCAAT	0.423										HNSCC(10;0.0054)																																							0													36.0	35.0	35.0					6																	152472809		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24329G>A	6.37:g.152472809C>T	ENSP00000356224:p.Arg8110His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R8110H	ENST00000367255.5	37	c.24329	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	35	5.454421	0.96223	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000020	T	0.52403	0.1732	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.995;0.995;0.992;0.995;0.986	T	0.32161	-0.9917	10	0.36615	T	0.2	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	8110;8110;8039;8039;312	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8110;265;756;8039;8110;8039;7722;2634;272;267;1032;265	ENSP00000356224:R8110H;ENSP00000441052:R265H;ENSP00000356226:R756H;ENSP00000396024:R8039H;ENSP00000265368:R8110H;ENSP00000390975:R8039H;ENSP00000341887:R7722H;ENSP00000349276:R2634H;ENSP00000356220:R1032H;ENSP00000346701:R265H	ENSP00000265368:R8110H	R	-	2	0	SYNE1	152514502	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	7.625000	0.83145	2.836000	0.97738	0.655000	0.94253	CGT	SYNE1	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom	ENSG00000131018		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	34	0	C	NM_182961		152472809	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
SYT17	51760	genome.wustl.edu	37	16	19234436	19234436	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr16:19234436G>C	ENST00000355377.2	+	6	1419	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	SYT17_ENST00000568115.1_Missense_Mutation_p.D280H|SYT17_ENST00000568433.1_Missense_Mutation_p.D35H|SYT17_ENST00000562711.2_Missense_Mutation_p.D337H|SYT17_ENST00000562034.1_Missense_Mutation_p.D280H	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	341	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ACTGAATGTTGATGTCATTCG	0.473																																																	0													117.0	96.0	103.0					16																	19234436		2197	4300	6497	SO:0001583	missense	0				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1021G>C	16.37:g.19234436G>C	ENSP00000347538:p.Asp341His		O43330|Q9NZ18	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.D341H	ENST00000355377.2	37	c.1021	CCDS10575.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.125218	0.94429	.	.	ENSG00000103528	ENST00000355377	T	0.68624	-0.34	4.83	4.83	0.62350	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.171002	0.34411	N	0.003981	T	0.68961	0.3058	N	0.20304	0.555	0.58432	D	0.999999	P;D	0.55385	0.947;0.971	P;P	0.59115	0.796;0.852	T	0.73933	-0.3826	10	0.66056	D	0.02	.	18.8234	0.92106	0.0:0.0:1.0:0.0	.	341;280	Q9BSW7;B4DJB2	SYT17_HUMAN;.	H	341	ENSP00000347538:D341H	ENSP00000347538:D341H	D	+	1	0	SYT17	19141937	1.000000	0.71417	0.712000	0.30502	0.999000	0.98932	7.755000	0.85180	2.596000	0.87737	0.655000	0.94253	GAT	SYT17	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	ENSG00000103528		0.473	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2	-	0.00	114	0	G	NM_016524		19234436	+1	tier1	-	no_errors	ENST00000355377	ensembl	human	known	74_37	missense	17.53	80	17	SNP	0.996	C
TAF1A	9015	genome.wustl.edu	37	1	222732053	222732054	+	Frame_Shift_Ins	INS	-	-	TTAA			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:222732053_222732054insTTAA	ENST00000352967.4	-	11	1489_1490	c.1301_1302insTTAA	c.(1300-1302)aagfs	p.K434fs	TAF1A_ENST00000350027.4_Frame_Shift_Ins_p.K434fs|TAF1A_ENST00000366890.1_Frame_Shift_Ins_p.K320fs|TAF1A_ENST00000391882.1_Frame_Shift_Ins_p.K320fs	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	434					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCTTCATCCGCTTAATTTTCTT	0.302																																																	0																																										SO:0001589	frameshift_variant	0			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1298_1301dupTTAA	1.37:g.222732054_222732057dupTTAA	ENSP00000327072:p.Lys434fs		B2RDZ8|D3DTB7|Q9NWA1	Frame_Shift_Ins	INS	pirsf_RNA_pol_I_TAF1A/TAFI48	p.K434fs	ENST00000352967.4	37	c.1302_1301	CCDS1531.1	1																																																																																			TAF1A	-	pirsf_RNA_pol_I_TAF1A/TAFI48	ENSG00000143498		0.302	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1A	HGNC	protein_coding	OTTHUMT00000091493.2		0.00	35	0	-	NM_005681		222732054	-1	tier1		no_errors	ENST00000350027	ensembl	human	known	74_37	frame_shift_ins	6.45	29	2	INS	0.980:0.984	TTAA
TCF7	6932	genome.wustl.edu	37	5	133473773	133473773	+	Silent	SNP	C	C	T	rs561867522		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:133473773C>T	ENST00000321584.4	+	4	661	c.465C>T	c.(463-465)caC>caT	p.H155H	TCF7_ENST00000432532.2_Silent_p.H40H|TCF7_ENST00000520958.1_Silent_p.H40H|TCF7_ENST00000378560.4_Silent_p.H40H|TCF7_ENST00000342854.5_Silent_p.H155H|TCF7_ENST00000321603.6_Silent_p.H155H|TCF7_ENST00000395029.1_Silent_p.H155H|TCF7_ENST00000395023.1_Silent_p.H40H|TCF7_ENST00000378564.1_Silent_p.H155H|TCF7_ENST00000518915.1_Silent_p.H40H			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	155					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCCCCCCCACGGTGTCCCCC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16537	0.0		0.0	False		,,,				2504	0.001																0													117.0	113.0	114.0					5																	133473773		2203	4300	6503	SO:0001819	synonymous_variant	0			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.465C>T	5.37:g.133473773C>T			B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	NULL	p.T58M	ENST00000321584.4	37	c.173		5																																																																																			TCF7	-	NULL	ENSG00000081059		0.572	TCF7-201	KNOWN	basic	protein_coding	TCF7	HGNC	protein_coding		-	0.00	55	0	C	NM_201634		133473773	+1	tier1	-	no_errors	ENST00000517741	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.092	T
TECPR1	25851	genome.wustl.edu	37	7	97847352	97847352	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:97847352T>C	ENST00000447648.2	-	24	3459	c.3160A>G	c.(3160-3162)Aac>Gac	p.N1054D	TECPR1_ENST00000379795.3_Missense_Mutation_p.N1056D			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1054					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.N1055D(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TACCACAGGTTTCCTGGGGAG	0.672																																																	1	Substitution - Missense(1)	endometrium(1)											22.0	25.0	24.0					7																	97847352		1931	4096	6027	SO:0001583	missense	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3160A>G	7.37:g.97847352T>C	ENSP00000404923:p.Asn1054Asp		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.N1056D	ENST00000447648.2	37	c.3166	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	T	16.81	3.226956	0.58668	.	.	ENSG00000205356	ENST00000447648;ENST00000379795	T;T	0.80033	-1.33;-1.33	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86699	0.1928	10	0.33940	T	0.23	-52.0065	13.3346	0.60509	0.0:0.0:0.0:1.0	.	1054	Q7Z6L1	TCPR1_HUMAN	D	1054;1056	ENSP00000404923:N1054D;ENSP00000369121:N1056D	ENSP00000369121:N1056D	N	-	1	0	TECPR1	97685288	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	6.186000	0.72026	1.744000	0.51775	0.459000	0.35465	AAC	TECPR1	-	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.672	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1		0.00	30	0	T	NM_015395		97847352	-1			no_errors	ENST00000379795	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.998	C
TM4SF20	79853	genome.wustl.edu	37	2	228243873	228243873	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:228243873C>A	ENST00000304568.3	-	1	149	c.112G>T	c.(112-114)Gac>Tac	p.D38Y		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GAAAATTGGTCTTCCTCAACT	0.438																																																	0													124.0	123.0	123.0					2																	228243873		2203	4300	6503	SO:0001583	missense	0			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.112G>T	2.37:g.228243873C>A	ENSP00000303028:p.Asp38Tyr		B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	pfam_L6_membrane	p.D38Y	ENST00000304568.3	37	c.112	CCDS2466.1	2	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901248	0.52227	.	.	ENSG00000168955	ENST00000304568	T	0.32988	1.43	5.77	3.96	0.45880	.	0.760060	0.12290	N	0.482052	T	0.47875	0.1469	L	0.57536	1.79	0.09310	N	1	D	0.61080	0.989	D	0.63113	0.911	T	0.27123	-1.0083	10	0.62326	D	0.03	-10.6889	10.6348	0.45558	0.0:0.8406:0.0:0.1594	.	38	Q53R12	T4S20_HUMAN	Y	38	ENSP00000303028:D38Y	ENSP00000303028:D38Y	D	-	1	0	TM4SF20	227952117	0.006000	0.16342	0.002000	0.10522	0.012000	0.07955	2.100000	0.41777	1.438000	0.47492	0.591000	0.81541	GAC	TM4SF20	-	pfam_L6_membrane	ENSG00000168955		0.438	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF20	HGNC	protein_coding	OTTHUMT00000256896.2		0.00	31	0	C	NM_024795		228243873	-1			no_errors	ENST00000304568	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.003	A
TMC6	11322	genome.wustl.edu	37	17	76120758	76120758	+	Silent	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:76120758G>C	ENST00000590602.1	-	8	897	c.738C>G	c.(736-738)ctC>ctG	p.L246L	TMC6_ENST00000306591.7_Silent_p.L246L|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Silent_p.L246L|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000589553.1_Silent_p.L19L|TMC6_ENST00000392467.3_Silent_p.L246L|TMC6_ENST00000592076.1_5'Flank			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	246					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGAAGTAGGAGAGCACGCTGG	0.662																																																	0													20.0	18.0	18.0					17																	76120758		2175	4243	6418	SO:0001819	synonymous_variant	0			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.738C>G	17.37:g.76120758G>C			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	pfam_TMC	p.L246	ENST00000590602.1	37	c.738	CCDS32748.1	17																																																																																			TMC6	-	NULL	ENSG00000141524		0.662	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	-	0.00	42	0	G			76120758	-1	tier1	-	no_errors	ENST00000322914	ensembl	human	known	74_37	silent	11.63	38	5	SNP	1.000	C
TMEM106C	79022	genome.wustl.edu	37	12	48361947	48361947	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:48361947A>G	ENST00000429772.2	+	8	801	c.688A>G	c.(688-690)Atg>Gtg	p.M230V	TMEM106C_ENST00000552546.1_Missense_Mutation_p.M159V|TMEM106C_ENST00000550552.1_Missense_Mutation_p.M211V|TMEM106C_ENST00000256686.6_Missense_Mutation_p.M211V|TMEM106C_ENST00000449758.2_Missense_Mutation_p.M211V|TMEM106C_ENST00000549288.1_3'UTR|TMEM106C_ENST00000552561.1_Missense_Mutation_p.M230V	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	230						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		CATTGGCCTCATGACCCAGAG	0.418																																																	0													126.0	116.0	120.0					12																	48361947		2203	4300	6503	SO:0001583	missense	0			BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.688A>G	12.37:g.48361947A>G	ENSP00000400471:p.Met230Val		B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.M230V	ENST00000429772.2	37	c.688	CCDS8758.1	12	.	.	.	.	.	.	.	.	.	.	A	0.061	-1.224573	0.01530	.	.	ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	4.46	-1.78	0.07957	.	0.632911	0.17139	N	0.185521	T	0.07279	0.0184	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40459	-0.9562	10	0.08179	T	0.78	-13.3527	10.5755	0.45225	0.5037:0.0:0.4963:0.0	.	230;211	Q9BVX2;Q9BVX2-2	T106C_HUMAN;.	V	211;230;159;211;230;211;140	ENSP00000256686:M211V;ENSP00000446657:M230V;ENSP00000448268:M159V;ENSP00000449737:M211V;ENSP00000400471:M230V;ENSP00000402705:M211V;ENSP00000447254:M140V	ENSP00000256686:M211V	M	+	1	0	TMEM106C	46648214	0.000000	0.05858	0.063000	0.19743	0.995000	0.86356	-0.713000	0.05007	-0.311000	0.08754	0.460000	0.39030	ATG	TMEM106C	-	pfam_DUF1356_TMEM106	ENSG00000134291		0.418	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106C	HGNC	protein_coding	OTTHUMT00000406452.1	-	0.00	20	0	A	NM_024056		48361947	+1	tier1	-	no_errors	ENST00000429772	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.013	G
TMPRSS4	56649	genome.wustl.edu	37	11	117988062	117988062	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:117988062C>T	ENST00000437212.3	+	12	1409	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	TMPRSS4_ENST00000522307.1_Missense_Mutation_p.H252Y|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.H359Y|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.H394Y|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.H397Y|TMPRSS4_ENST00000518413.2_3'UTR			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	399	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)		TGACCAGTGGCATGTGGTGGG	0.592																																																	0													176.0	150.0	159.0					11																	117988062		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.1195C>T	11.37:g.117988062C>T	ENSP00000416037:p.His399Tyr		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.H399Y	ENST00000437212.3	37	c.1195	CCDS31684.1	11	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340315	0.41398	.	.	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	5.06	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.241492	0.29106	N	0.013129	T	0.18841	0.0452	N	0.00325	-1.645	0.21933	N	0.999461	B;B;B;B;B	0.25667	0.131;0.014;0.069;0.004;0.096	B;B;B;B;B	0.28139	0.036;0.033;0.016;0.021;0.086	T	0.36672	-0.9738	10	0.02654	T	1	.	9.6117	0.39668	0.1604:0.6847:0.1548:0.0	.	374;359;252;399;397	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	Y	397;252;359;399;394	ENSP00000435184:H397Y;ENSP00000428814:H252Y;ENSP00000429209:H359Y;ENSP00000416037:H399Y;ENSP00000430547:H394Y	ENSP00000416037:H399Y	H	+	1	0	TMPRSS4	117493272	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.277000	0.33167	1.095000	0.41419	0.563000	0.77884	CAT	TMPRSS4	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000137648		0.592	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS4	HGNC	protein_coding	OTTHUMT00000377328.2	-	0.00	55	0	C	NM_019894		117988062	+1	tier1	-	no_errors	ENST00000437212	ensembl	human	known	74_37	missense	37.93	36	22	SNP	1.000	T
CROT	54677	genome.wustl.edu	37	7	86974747	86974747	+	5'Flank	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:86974747G>T	ENST00000331536.3	+	0	0				CROT_ENST00000412227.2_5'Flank|TP53TG1_ENST00000359941.5_lincRNA|CROT_ENST00000442291.1_5'Flank|CROT_ENST00000419147.2_5'Flank	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CACCCGGCGAGCCCTTCCCAG	0.677																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653		7.37:g.86974747G>T	Exception_encountered		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	RNA	SNP	-	NULL	ENST00000331536.3	37	NULL	CCDS5604.1	7																																																																																			TP53TG1	-	-	ENSG00000182165		0.677	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG1	HGNC	protein_coding	OTTHUMT00000253485.1		0.00	40	0	G	NM_021151		86974747	-1			no_errors	ENST00000359941	ensembl	human	known	74_37	rna	9.09	30	3	SNP	0.000	T
CROT	54677	genome.wustl.edu	37	7	86974782	86974782	+	5'Flank	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:86974782G>A	ENST00000331536.3	+	0	0				CROT_ENST00000412227.2_5'Flank|TP53TG1_ENST00000359941.5_lincRNA|CROT_ENST00000442291.1_5'Flank|CROT_ENST00000419147.2_5'Flank	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATAGAGCCGGGGCCCAAGACG	0.697																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653		7.37:g.86974782G>A	Exception_encountered		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	RNA	SNP	-	NULL	ENST00000331536.3	37	NULL	CCDS5604.1	7																																																																																			TP53TG1	-	-	ENSG00000182165		0.697	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG1	HGNC	protein_coding	OTTHUMT00000253485.1		0.00	30	0	G	NM_021151		86974782	-1			no_errors	ENST00000359941	ensembl	human	known	74_37	rna	11.11	24	3	SNP	0.000	A
TRAF1	7185	genome.wustl.edu	37	9	123667461	123667461	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:123667461C>T	ENST00000373887.3	-	8	3533	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	TRAF1_ENST00000540010.1_Missense_Mutation_p.R363Q|TRAF1_ENST00000546084.1_Missense_Mutation_p.R241Q	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	363	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TAGGTCAGGCCGGAAGGCGTC	0.602																																																	0													100.0	69.0	79.0					9																	123667461		2203	4300	6503	SO:0001583	missense	0			AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.1088G>A	9.37:g.123667461C>T	ENSP00000362994:p.Arg363Gln		B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	p.R363Q	ENST00000373887.3	37	c.1088	CCDS6825.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.257813	0.95368	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.46063	0.88;0.88;0.88	5.41	4.5	0.54988	TRAF-type (1);TRAF-like (1);MATH (3);	0.062091	0.64402	D	0.000004	T	0.42832	0.1220	M	0.84326	2.69	0.49483	D	0.999799	B	0.34015	0.435	B	0.21151	0.033	T	0.46400	-0.9194	10	0.34782	T	0.22	-39.0029	14.1697	0.65500	0.0:0.9235:0.0:0.0765	.	363	Q13077	TRAF1_HUMAN	Q	363;363;241	ENSP00000362994:R363Q;ENSP00000443183:R363Q;ENSP00000438583:R241Q	ENSP00000362994:R363Q	R	-	2	0	TRAF1	122707282	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.908000	0.63307	2.704000	0.92352	0.655000	0.94253	CGG	TRAF1	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	ENSG00000056558		0.602	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF1	HGNC	protein_coding	OTTHUMT00000053843.1	-	0.00	39	0	C	NM_005658		123667461	-1	tier1	-	no_errors	ENST00000373887	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	T
TRANK1	9881	genome.wustl.edu	37	3	36931320	36931320	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:36931320G>A	ENST00000429976.2	-	7	1022	c.775C>T	c.(775-777)Cga>Tga	p.R259*	TRANK1_ENST00000301807.6_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	259							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACTACTCACGCTTAACGAGG	0.577																																																	0													78.0	75.0	76.0					3																	36931320		692	1591	2283	SO:0001630	splice_region_variant	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.775+1C>T	3.37:g.36931320G>A			Q8N8K0	Nonsense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.R259*	ENST00000429976.2	37	c.775	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447696	0.63178	.	.	ENSG00000168016	ENST00000429976	.	.	.	5.36	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3347	0.49496	0.0:0.0:0.6701:0.3299	.	.	.	.	X	259	.	ENSP00000416168:R259X	R	-	1	2	TRANK1	36906324	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	2.634000	0.46528	1.378000	0.46305	0.655000	0.94253	CGA	TRANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000168016		0.577	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0.00	51	0	G	NM_014831	Nonsense_Mutation	36931320	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	nonsense	23.91	35	11	SNP	0.996	A
TRIM11	81559	genome.wustl.edu	37	1	228584497	228584497	+	Intron	SNP	T	T	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:228584497T>A	ENST00000284551.6	-	5	1138				RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_Intron|TRIM11_ENST00000366699.3_Missense_Mutation_p.H337L|TRIM11_ENST00000493030.2_Intron	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				gtcagaagtatgagcagagga	0.488																																																	0																																										SO:0001627	intron_variant	0			AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.859+150A>T	1.37:g.228584497T>A			A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.H337L	ENST00000284551.6	37	c.1010	CCDS31048.1	1	.	.	.	.	.	.	.	.	.	.	T	2.782	-0.253196	0.05829	.	.	ENSG00000154370	ENST00000366699	T	0.71461	-0.57	1.35	-2.69	0.06022	.	.	.	.	.	T	0.40670	0.1126	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22452	-1.0216	8	0.10377	T	0.69	.	1.8707	0.03207	0.4246:0.2346:0.0:0.3408	.	337	Q96F44-2	.	L	337	ENSP00000355660:H337L	ENSP00000355660:H337L	H	-	2	0	TRIM11	226651120	0.028000	0.19301	0.000000	0.03702	0.031000	0.12232	0.449000	0.21744	-0.841000	0.04200	0.260000	0.18958	CAT	TRIM11	-	NULL	ENSG00000154370		0.488	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM11	HGNC	protein_coding	OTTHUMT00000095995.3	-	0.00	68	0	T	NM_145214		228584497	-1	tier1	-	no_errors	ENST00000366699	ensembl	human	known	74_37	missense	6.78	54	4	SNP	0.000	A
TRIM4	89122	genome.wustl.edu	37	7	99506320	99506320	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:99506320G>A	ENST00000355947.2	-	4	812	c.683C>T	c.(682-684)aCg>aTg	p.T228M	TRIM4_ENST00000349062.2_Missense_Mutation_p.T202M|TRIM4_ENST00000354241.5_Missense_Mutation_p.T202M	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	228					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)				CTTCTTCTTCGTCTCTTCTTC	0.448																																																	0													205.0	176.0	186.0					7																	99506320		2203	4300	6503	SO:0001583	missense	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.683C>T	7.37:g.99506320G>A	ENSP00000348216:p.Thr228Met		A4D298|Q75MK1|Q96F06|Q9C036	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.T228M	ENST00000355947.2	37	c.683	CCDS5679.1	7	.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232224	0.05983	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799;ENST00000354241	T;T;T	0.04502	3.61;3.61;3.61	2.68	1.3	0.21679	.	.	.	.	.	T	0.03178	0.0093	L	0.31294	0.92	0.09310	N	1	P;B;B	0.41784	0.762;0.389;0.042	B;B;B	0.33042	0.157;0.035;0.003	T	0.43130	-0.9410	9	0.54805	T	0.06	.	4.7819	0.13206	0.2607:0.0:0.7393:0.0	.	202;202;228	Q9C037-3;Q9C037-2;Q9C037	.;.;TRIM4_HUMAN	M	228;202;58;202	ENSP00000348216:T228M;ENSP00000275736:T202M;ENSP00000346186:T202M	ENSP00000275736:T202M	T	-	2	0	TRIM4	99344256	0.014000	0.17966	0.045000	0.18777	0.202000	0.24057	-0.146000	0.10250	0.369000	0.24510	0.650000	0.86243	ACG	TRIM4	-	NULL	ENSG00000146833		0.448	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	HGNC	protein_coding	OTTHUMT00000345050.1	-	0.00	76	0	G	NM_033017		99506320	-1	tier1	-	no_errors	ENST00000355947	ensembl	human	known	74_37	missense	8.79	83	8	SNP	0.052	A
TRIM46	80128	genome.wustl.edu	37	1	155150650	155150650	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:155150650G>T	ENST00000334634.4	+	6	1082	c.1082G>T	c.(1081-1083)gGt>gTt	p.G361V	TRIM46_ENST00000368383.3_Missense_Mutation_p.G361V|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000392451.2_Missense_Mutation_p.G361V|TRIM46_ENST00000368382.1_Missense_Mutation_p.G338V|TRIM46_ENST00000545012.1_Missense_Mutation_p.G235V|TRIM46_ENST00000543729.1_Missense_Mutation_p.G368V|TRIM46_ENST00000368385.4_Missense_Mutation_p.G361V	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	361						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)			GATGGCTCAGGTCTGGTGGGC	0.607																																																	0													33.0	36.0	35.0					1																	155150650		2203	4300	6503	SO:0001583	missense	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.1082G>T	1.37:g.155150650G>T	ENSP00000334657:p.Gly361Val		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	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.G361V	ENST00000334634.4	37	c.1082	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902142	0.72754	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.51574	0.76;1.0;1.0;0.7;1.0;1.0;1.0	3.59	3.59	0.41128	.	0.000000	0.64402	D	0.000001	T	0.52597	0.1744	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.996;1.0	D;D;D;D	0.91635	0.925;0.998;0.925;0.999	T	0.56523	-0.7965	10	0.59425	D	0.04	.	13.0708	0.59059	0.0:0.0:1.0:0.0	.	361;338;361;361	Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;TRI46_HUMAN;.	V	368;319;361;235;361;361;338;361	ENSP00000442719:G368V;ENSP00000357369:G361V;ENSP00000440254:G235V;ENSP00000376245:G361V;ENSP00000357367:G361V;ENSP00000357366:G338V;ENSP00000334657:G361V	ENSP00000334657:G361V	G	+	2	0	TRIM46	153417274	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	9.099000	0.94207	2.011000	0.59026	0.313000	0.20887	GGT	TRIM46	-	NULL	ENSG00000163462		0.607	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1		0.00	54	0	G	NM_025058		155150650	+1			no_errors	ENST00000334634	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.999	T
TSSC4	10078	genome.wustl.edu	37	11	2426270	2426270	+	IGR	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:2426270G>C	ENST00000333256.6	+	0	1686				TRPM5_ENST00000155858.6_Missense_Mutation_p.S1132C|TRPM5_ENST00000533060.1_Missense_Mutation_p.S1140C|TRPM5_ENST00000528453.1_Missense_Mutation_p.S1133C|TRPM5_ENST00000452833.1_Missense_Mutation_p.S1134C|AC124057.5_ENST00000433035.1_RNA			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4											endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGCTGAGAGCCTGCTGG	0.672																																																	0													27.0	28.0	28.0					11																	2426270		2201	4296	6497	SO:0001628	intergenic_variant	0			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895		11.37:g.2426270G>C			C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.S1134C	ENST00000333256.6	37	c.3401	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038964	0.35989	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.63255	0.13;0.07;0.07;-0.03;0.07	2.43	2.43	0.29744	.	1.163180	0.06757	U	0.781091	T	0.60971	0.2310	L	0.36672	1.1	0.09310	N	1	D;D;D	0.54964	0.969;0.969;0.969	P;P;P	0.50490	0.642;0.521;0.521	T	0.53308	-0.8457	10	0.72032	D	0.01	-0.2496	8.4801	0.33038	0.0:0.0:1.0:0.0	.	1140;1134;1132	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	C	1126;1132;1134;1140;1133	ENSP00000434383:S1126C;ENSP00000155858:S1132C;ENSP00000387965:S1134C;ENSP00000434121:S1140C;ENSP00000436809:S1133C	ENSP00000155858:S1132C	S	-	2	0	TRPM5	2382846	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	0.605000	0.24179	1.671000	0.50874	0.491000	0.48974	TCT	TRPM5	-	NULL	ENSG00000070985		0.672	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027369.3	-	0.00	123	0	G	NM_005706		2426270	-1	tier1	-	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	8.66	116	11	SNP	0.005	C
UBR2	23304	genome.wustl.edu	37	6	42657384	42657384	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:42657384A>G	ENST00000372899.1	+	46	5360	c.5102A>G	c.(5101-5103)tAt>tGt	p.Y1701C	UBR2_ENST00000372901.1_Missense_Mutation_p.Y1701C|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1701					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CTTGATGACTATGGGGAGACC	0.507																																																	0													275.0	281.0	279.0					6																	42657384		2203	4300	6503	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5102A>G	6.37:g.42657384A>G	ENSP00000361990:p.Tyr1701Cys		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.Y1701C	ENST00000372899.1	37	c.5102	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654929	0.88056	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.64438	-0.1;-0.1	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.80433	0.4622	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.85416	0.1140	10	0.72032	D	0.01	0.1728	15.5568	0.76200	1.0:0.0:0.0:0.0	.	289;1701;1701	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	C	1701	ENSP00000361990:Y1701C;ENSP00000361992:Y1701C	ENSP00000361990:Y1701C	Y	+	2	0	UBR2	42765362	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.339000	0.96797	2.073000	0.62155	0.455000	0.32223	TAT	UBR2	-	NULL	ENSG00000024048		0.507	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	-	0.00	66	0	A	NM_015255		42657384	+1	tier1	-	no_errors	ENST00000372899	ensembl	human	known	74_37	missense	5.88	80	5	SNP	1.000	G
VCPIP1	80124	genome.wustl.edu	37	8	67576874	67576874	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:67576874C>G	ENST00000310421.4	-	1	2578	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	774					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATCTTCTTCTCCTTAGAAGTT	0.468																																					NSCLC(179;265 2915 6144 43644)												0													177.0	169.0	172.0					8																	67576874		2203	4300	6503	SO:0001583	missense	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2320G>C	8.37:g.67576874C>G	ENSP00000309031:p.Glu774Gln		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E774Q	ENST00000310421.4	37	c.2320	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411878	0.83340	.	.	ENSG00000175073	ENST00000310421	T	0.44083	0.93	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	L	0.60455	1.87	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.57820	-0.7745	10	0.39692	T	0.17	-12.8153	19.7534	0.96277	0.0:1.0:0.0:0.0	.	774	Q96JH7	VCIP1_HUMAN	Q	774	ENSP00000309031:E774Q	ENSP00000309031:E774Q	E	-	1	0	VCPIP1	67739428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.783000	0.85696	2.647000	0.89833	0.655000	0.94253	GAG	VCPIP1	-	NULL	ENSG00000175073		0.468	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1		0.00	71	0	C			67576874	-1			no_errors	ENST00000310421	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	G
VEZF1	7716	genome.wustl.edu	37	17	56056642	56056642	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:56056642G>T	ENST00000581208.1	-	5	1049	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K	VEZF1_ENST00000584396.1_Missense_Mutation_p.Q328K	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	337					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						tgctgctgctgctTTTGGTTA	0.443																																																	0													91.0	96.0	94.0					17																	56056642		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.1009C>A	17.37:g.56056642G>T	ENSP00000462337:p.Gln337Lys			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q337K	ENST00000581208.1	37	c.1009	CCDS32687.1	17	.	.	.	.	.	.	.	.	.	.	G	9.551	1.115961	0.20795	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.71	5.71	0.89125	.	1.062980	0.07161	N	0.850754	T	0.32071	0.0817	N	0.08118	0	0.20074	N	0.999932	B	0.26041	0.14	B	0.34489	0.184	T	0.15464	-1.0436	9	0.10111	T	0.7	-1.4976	17.6481	0.88154	0.0:0.0:1.0:0.0	.	337	Q14119	VEZF1_HUMAN	K	337	.	ENSP00000258963:Q337K	Q	-	1	0	VEZF1	53411641	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.069000	0.71209	2.710000	0.92621	0.655000	0.94253	CAG	VEZF1	-	NULL	ENSG00000136451		0.443	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VEZF1	HGNC	protein_coding	OTTHUMT00000443321.1		0.00	54	0	G			56056642	-1			no_errors	ENST00000581208	ensembl	human	known	74_37	missense	8.43	76	7	SNP	1.000	T
CFAP44	55779	genome.wustl.edu	37	3	113125833	113125833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:113125833G>A	ENST00000295868.2	-	8	1108	c.946C>T	c.(946-948)Cga>Tga	p.R316*	WDR52_ENST00000393845.2_Nonsense_Mutation_p.R316*|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTGCCAAATCGACCTAGTGAT	0.393																																																	0													155.0	138.0	144.0					3																	113125833		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000295868.2:c.946C>T	3.37:g.113125833G>A	ENSP00000295868:p.Arg316*			Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R316*	ENST00000295868.2	37	c.946	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.476481	0.96291	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	.	.	.	4.39	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6718	0.40017	0.0:0.0:0.5915:0.4085	.	.	.	.	X	316	.	ENSP00000295868:R316X	R	-	1	2	WDR52	114608523	1.000000	0.71417	0.994000	0.49952	0.859000	0.49053	5.156000	0.64905	2.291000	0.77112	0.491000	0.48974	CGA	WDR52	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000206530		0.393	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	-	0.00	76	0	G			113125833	-1	tier1	-	no_errors	ENST00000393845	ensembl	human	known	74_37	nonsense	10.47	77	9	SNP	1.000	A
WDR81	124997	genome.wustl.edu	37	17	1631464	1631464	+	Missense_Mutation	SNP	G	G	T	rs547107402		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:1631464G>T	ENST00000409644.1	+	1	3211	c.3211G>T	c.(3211-3213)Gtc>Ttc	p.V1071F	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000309182.5_Missense_Mutation_p.V20F|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1071					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACGTCTGGCGTCAGCTTCCA	0.657																																																	0													28.0	32.0	31.0					17																	1631464		2201	4299	6500	SO:0001583	missense	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3211G>T	17.37:g.1631464G>T	ENSP00000386609:p.Val1071Phe		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1071F	ENST00000409644.1	37	c.3211	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064670	0.55432	.	.	ENSG00000167716	ENST00000309182;ENST00000409644;ENST00000354680	T;T	0.56275	2.02;0.47	5.58	5.58	0.84498	.	0.060916	0.64402	D	0.000003	T	0.62708	0.2450	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.68765	0.96;0.888	T	0.66272	-0.5965	10	0.87932	D	0	.	19.5737	0.95432	0.0:0.0:1.0:0.0	.	198;20	Q8TEL1;Q562E7	.;WDR81_HUMAN	F	20;1071;20	ENSP00000312074:V20F;ENSP00000386609:V1071F	ENSP00000312074:V20F	V	+	1	0	WDR81	1578214	1.000000	0.71417	0.960000	0.40013	0.409000	0.31022	4.570000	0.60872	2.644000	0.89710	0.609000	0.83330	GTC	WDR81	-	NULL	ENSG00000167716		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2		0.00	42	0	G	NM_152348		1631464	+1			no_errors	ENST00000409644	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.990	T
ZAP70	7535	genome.wustl.edu	37	2	98349436	98349436	+	Silent	SNP	G	G	A	rs202191985		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:98349436G>A	ENST00000264972.5	+	5	869	c.654G>A	c.(652-654)gcG>gcA	p.A218A	ZAP70_ENST00000442208.1_Silent_p.A92A|ZAP70_ENST00000451498.2_5'Flank|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	218	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AAGACAAGGCGGGCAAGTACT	0.612																																																	0													104.0	81.0	89.0					2																	98349436		2203	4300	6503	SO:0001819	synonymous_variant	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.654G>A	2.37:g.98349436G>A			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.A218	ENST00000264972.5	37	c.654	CCDS33254.1	2																																																																																			ZAP70	-	pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2	ENSG00000115085		0.612	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	-	0.00	74	0	G			98349436	+1	tier1	rs202191985	no_errors	ENST00000264972	ensembl	human	known	74_37	silent	21.78	78	22	SNP	0.017	A
ZHX1	11244	genome.wustl.edu	37	8	124266852	124266852	+	Silent	SNP	T	T	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:124266852T>A	ENST00000522655.1	-	3	1875	c.1335A>T	c.(1333-1335)gcA>gcT	p.A445A	ZHX1_ENST00000297857.2_Silent_p.A445A|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000395571.3_Silent_p.A445A|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	445	Required for interaction with NFYA.				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)			TTGGAACTGCTGCTGTTGCTG	0.438																																																	0													121.0	126.0	124.0					8																	124266852		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.1335A>T	8.37:g.124266852T>A			Q8IWD8	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.A445	ENST00000522655.1	37	c.1335	CCDS6342.1	8	.	.	.	.	.	.	.	.	.	.	T	2.049	-0.418073	0.04766	.	.	ENSG00000165156	ENST00000520474	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	T	0.61590	0.2359	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60332	-0.7284	4	.	.	.	-14.8106	10.8255	0.46629	0.0:0.0:0.0:1.0	.	.	.	.	L	130	.	.	Q	-	2	0	ZHX1	124336033	0.991000	0.36638	0.997000	0.53966	0.627000	0.37826	0.366000	0.20365	2.048000	0.60808	0.374000	0.22700	CAG	ZHX1	-	NULL	ENSG00000165156		0.438	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	-	0.00	41	0	T			124266852	-1	tier1	-	no_errors	ENST00000297857	ensembl	human	known	74_37	silent	29.41	36	15	SNP	1.000	A
ZNF174	7727	genome.wustl.edu	37	16	3452111	3452111	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr16:3452111delA	ENST00000268655.4	+	1	692	c.107delA	c.(106-108)caafs	p.Q36fs	ZSCAN32_ENST00000439568.2_5'Flank|ZNF174_ENST00000572544.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000575752.1_Frame_Shift_Del_p.Q36fs|ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000571936.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000344823.5_Frame_Shift_Del_p.Q36fs|ZSCAN32_ENST00000573830.1_5'Flank|ZSCAN32_ENST00000396852.4_5'Flank|ZSCAN32_ENST00000304926.3_5'Flank	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	36					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCTCCTCTGCAAAAAAACTGC	0.502																																																	0													146.0	165.0	159.0					16																	3452111		2197	4300	6497	SO:0001589	frameshift_variant	0			U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.107delA	16.37:g.3452111delA	ENSP00000268655:p.Gln36fs		Q53Y68|Q9BQ34	Frame_Shift_Del	DEL	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.N38fs	ENST00000268655.4	37	c.107	CCDS10504.1	16																																																																																			ZNF174	-	superfamily_Retrov_capsid_C	ENSG00000103343		0.502	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF174	HGNC	protein_coding	OTTHUMT00000251510.1		0.00	59	0	A	NM_003450		3452111	+1	tier1		no_errors	ENST00000268655	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.000	-
ZNF20	7568	genome.wustl.edu	37	19	12243540	12243540	+	Silent	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:12243540G>A	ENST00000334213.5	-	4	1685	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000485451.1_5'Flank	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	487					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)|lung(6)	8						TGGAAATAAAGGCCTTACCAC	0.423																																																	0													173.0	183.0	179.0					19																	12243540		2203	4300	6503	SO:0001819	synonymous_variant	0			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1461C>T	19.37:g.12243540G>A			Q8N457|Q9UG41	Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A487	ENST00000334213.5	37	c.1461	CCDS45986.1	19																																																																																			ZNF20	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000132010		0.423	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF20	HGNC	protein_coding	OTTHUMT00000344101.1	-	0.00	79	0	G	NM_021143		12243540	-1	tier1	-	no_errors	ENST00000334213	ensembl	human	known	74_37	silent	14.81	46	8	SNP	0.013	A
ZNF207	7756	genome.wustl.edu	37	17	30696347	30696347	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:30696347C>T	ENST00000321233.6	+	10	1304	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	ZNF207_ENST00000394673.2_Missense_Mutation_p.R369C|ZNF207_ENST00000341711.6_Missense_Mutation_p.R301C|ZNF207_ENST00000394670.4_Missense_Mutation_p.R400C|ZNF207_ENST00000342555.6_Missense_Mutation_p.R403C|ZNF207_ENST00000577908.1_Missense_Mutation_p.R400C	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	384	GLEBS.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TAAGTATCAACGTAATCTTCC	0.512																																																	0													96.0	96.0	96.0					17																	30696347		2203	4300	6503	SO:0001583	missense	0			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1150C>T	17.37:g.30696347C>T	ENSP00000322777:p.Arg384Cys		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.R400C	ENST00000321233.6	37	c.1198	CCDS11271.1	17	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014353	0.54468	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.50548	0.74;0.75	5.55	4.58	0.56647	.	0.099447	0.64402	D	0.000001	T	0.63593	0.2524	L	0.54323	1.7	0.80722	D	1	B;B;B;B;D	0.89917	0.214;0.214;0.214;0.113;1.0	B;B;B;B;D	0.81914	0.033;0.033;0.033;0.01;0.995	T	0.63152	-0.6701	10	0.39692	T	0.17	.	16.0097	0.80391	0.1351:0.8649:0.0:0.0	.	353;403;400;369;384	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	C	400;353;403;369;301;384	ENSP00000378165:R400C;ENSP00000344913:R301C	ENSP00000322777:R369C	R	+	1	0	ZNF207	27720460	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.750000	0.55157	1.316000	0.45131	0.585000	0.79938	CGT	ZNF207	-	NULL	ENSG00000010244		0.512	ZNF207-003	KNOWN	basic|CCDS	protein_coding	ZNF207	HGNC	protein_coding	OTTHUMT00000256251.2	-	0.00	50	0	C			30696347	+1	tier1	-	no_errors	ENST00000394670	ensembl	human	known	74_37	missense	19.35	50	12	SNP	1.000	T
ZNF208	7757	genome.wustl.edu	37	19	22154882	22154882	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:22154882A>G	ENST00000397126.4	-	4	3102	c.2954T>C	c.(2953-2955)tTc>tCc	p.F985S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	985					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)				AAGGATTGAGAATGTACTAAA	0.348																																																	0													53.0	57.0	56.0					19																	22154882		2091	4237	6328	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.2954T>C	19.37:g.22154882A>G	ENSP00000380315:p.Phe985Ser			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.F985S	ENST00000397126.4	37	c.2954	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	a	0	-2.762512	0.00084	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.13538	2.58	2.43	-4.87	0.03123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	.	.	.	0.09310	N	1	B	0.18968	0.032	B	0.14578	0.011	T	0.36286	-0.9754	8	0.09084	T	0.74	.	0.5911	0.00728	0.2129:0.2559:0.2798:0.2514	.	857	O43345	ZN208_HUMAN	S	985;857	ENSP00000380315:F985S	ENSP00000380315:F985S	F	-	2	0	ZNF208	21946722	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.461000	0.00463	-2.774000	0.00363	-0.828000	0.03084	TTC	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.348	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1		0.00	43	0	A	NM_007153		22154882	-1			no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	6.25	30	2	SNP	0.000	G
ZNF485	220992	genome.wustl.edu	37	10	44112612	44112612	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:44112612G>A	ENST00000361807.3	+	5	1315	c.1121G>A	c.(1120-1122)aGa>aAa	p.R374K	ZNF485_ENST00000374435.3_Missense_Mutation_p.R374K|ZNF485_ENST00000374437.2_Missense_Mutation_p.R283K	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGACATCAGAGAATTCATACT	0.453																																																	0													79.0	72.0	74.0					10																	44112612		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.1121G>A	10.37:g.44112612G>A	ENSP00000354694:p.Arg374Lys		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.R374K	ENST00000361807.3	37	c.1121	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139398	0.37728	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.18338	2.22;2.22;2.22	1.86	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22360	0.0539	L	0.28344	0.845	0.23260	N	0.998022	P	0.39964	0.697	P	0.54889	0.763	T	0.16188	-1.0411	9	0.48119	T	0.1	.	9.7485	0.40462	0.0:0.0:1.0:0.0	.	374	Q8NCK3	ZN485_HUMAN	K	374;283;374	ENSP00000354694:R374K;ENSP00000363560:R283K;ENSP00000363558:R374K	ENSP00000354694:R374K	R	+	2	0	ZNF485	43432618	0.002000	0.14202	0.950000	0.38849	0.910000	0.53928	0.579000	0.23788	1.337000	0.45525	0.313000	0.20887	AGA	ZNF485	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198298		0.453	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	-	0.00	32	0	G	NM_145312		44112612	+1	tier1	-	no_errors	ENST00000361807	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.999	A
ZNF613	79898	genome.wustl.edu	37	19	52448537	52448537	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:52448537C>A	ENST00000293471.6	+	6	2080	c.1401C>A	c.(1399-1401)caC>caA	p.H467Q	ZNF613_ENST00000391794.4_Missense_Mutation_p.H431Q|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CCTGCTCACACAAGTCAGGTC	0.428																																																	0													82.0	75.0	77.0					19																	52448537		2203	4300	6503	SO:0001583	missense	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1401C>A	19.37:g.52448537C>A	ENSP00000293471:p.His467Gln		Q96SS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H467Q	ENST00000293471.6	37	c.1401	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	C	2.656	-0.280795	0.05642	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.18338	2.22;2.22	3.36	-2.07	0.07276	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.199975	0.25037	N	0.033625	T	0.03263	0.0095	N	0.02213	-0.635	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.32455	-0.9906	10	0.02654	T	1	.	0.1686	0.00111	0.286:0.2528:0.2255:0.2357	.	467	Q6PF04	ZN613_HUMAN	Q	467;431;141	ENSP00000293471:H467Q;ENSP00000375671:H431Q	ENSP00000293471:H467Q	H	+	3	2	ZNF613	57140349	0.000000	0.05858	0.281000	0.24762	0.969000	0.65631	-3.964000	0.00324	-0.067000	0.12976	-0.140000	0.14226	CAC	ZNF613	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176024		0.428	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2		0.00	53	0	C	NM_024840		52448537	+1			no_errors	ENST00000293471	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	A
ZNF704	619279	genome.wustl.edu	37	8	81550825	81550825	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:81550825delA	ENST00000327835.3	-	0	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)			TGCTACGTTTAAAAAAAAAAA	0.373																																																	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.*2776T>-	8.37:g.81550825delA			B2RNE6|B9EGW6	RNA	DEL	-	NULL	ENST00000327835.3	37	NULL	CCDS34913.1	8																																																																																			ZNF704	-	-	ENSG00000164684		0.373	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	HGNC	protein_coding	OTTHUMT00000379964.2		0.00	15	0	A	NM_001033723		81550825	-1	tier1		no_errors	ENST00000517379	ensembl	human	putative	74_37	rna	13.64	19	3	DEL	0.000	-
ZNF808	388558	genome.wustl.edu	37	19	53056935	53056935	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:53056935G>C	ENST00000359798.4	+	5	946	c.766G>C	c.(766-768)Gac>Cac	p.D256H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCATTTAGGAGACAAACAATA	0.398																																																	0													146.0	148.0	147.0					19																	53056935		2203	4297	6500	SO:0001583	missense	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.766G>C	19.37:g.53056935G>C	ENSP00000352846:p.Asp256His		Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D256H	ENST00000359798.4	37	c.766	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	14.01	2.407606	0.42715	.	.	ENSG00000198482	ENST00000359798	T	0.15718	2.4	1.57	-2.21	0.06973	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26376	0.0644	L	0.56199	1.76	0.21822	N	0.999529	P	0.52463	0.953	P	0.59761	0.863	T	0.15694	-1.0428	9	0.87932	D	0	.	5.7316	0.18042	0.0:0.2146:0.5657:0.2197	.	256	Q8N4W9	ZN808_HUMAN	H	256	ENSP00000352846:D256H	ENSP00000352846:D256H	D	+	1	0	ZNF808	57748747	0.093000	0.21703	0.000000	0.03702	0.063000	0.16089	1.185000	0.32065	-0.617000	0.05664	0.305000	0.20034	GAC	ZNF808	-	pfscan_Znf_C2H2	ENSG00000198482		0.398	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	-	0.00	127	0	G	NM_001039886		53056935	+1	tier1	-	no_errors	ENST00000359798	ensembl	human	known	74_37	missense	7.27	102	8	SNP	0.952	C
